rs4747204

Homo sapiens
A>G
PSAP : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0228 (6846/29934,GnomAD)
A==0228 (6661/29118,TOPMED)
A==0238 (1190/5008,1000G)
A==0214 (826/3854,ALSPAC)
A==0219 (812/3708,TWINSUK)
chr10:71839132 (GRCh38.p7) (10q22.1)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.71839132A>G
GRCh37.p13 chr 10NC_000010.10:g.73598889A>G
PSAP RefSeqGeneNG_009301.1:g.17194T>C

Gene: PSAP, prosaposin(minus strand)

Molecule type Change Amino acid[Codon] SO Term
PSAP transcript variant 2NM_001042465.2:c.N/AIntron Variant
PSAP transcript variant 3NM_001042466.2:c.N/AIntron Variant
PSAP transcript variant 1NM_002778.3:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.224G=0.776
1000GenomesAmericanSub694A=0.280G=0.720
1000GenomesEast AsianSub1008A=0.320G=0.680
1000GenomesEuropeSub1006A=0.209G=0.791
1000GenomesGlobalStudy-wide5008A=0.238G=0.762
1000GenomesSouth AsianSub978A=0.170G=0.830
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.214G=0.786
The Genome Aggregation DatabaseAfricanSub8706A=0.240G=0.760
The Genome Aggregation DatabaseAmericanSub838A=0.240G=0.760
The Genome Aggregation DatabaseEast AsianSub1614A=0.261G=0.739
The Genome Aggregation DatabaseEuropeSub18474A=0.219G=0.780
The Genome Aggregation DatabaseGlobalStudy-wide29934A=0.228G=0.771
The Genome Aggregation DatabaseOtherSub302A=0.250G=0.750
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.228G=0.771
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.219G=0.781
PMID Title Author Journal
22072270Genome-wide association study identifies 5q21 and 9p24.1 (KDM4C) loci associated with alcohol withdrawal symptoms.Wang KSJ Neural Transm (Vienna)

P-Value

SNP ID p-value Traits Study
rs47472048.97E-05alcohol withdrawal symptoms22072270

eQTL of rs4747204 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs4747204 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr107357166373572152E067-26737
chr107357217973572806E067-26083
chr107357400473574191E067-24698
chr107357430773574387E067-24502
chr107357450373574598E067-24291
chr107357513373575278E067-23611
chr107357535773575638E067-23251
chr107357577873575828E067-23061
chr107357589873575985E067-22904
chr107357599073576050E067-22839
chr107357620373576306E067-22583
chr107357633473576384E067-22505
chr107357644073576500E067-22389
chr107357651173576597E067-22292
chr107357665173576701E067-22188
chr107357683173577310E067-21579
chr107357734773577459E067-21430
chr107357757373578109E067-20780
chr107357819573578385E067-20504
chr107357843573578487E067-20402
chr107357852973578662E067-20227
chr107357883373578899E067-19990
chr107358250073582566E067-16323
chr107358264173582691E067-16198
chr107358292873583032E067-15857
chr107358309473583187E067-15702
chr107358332473583376E067-15513
chr107358360773583885E067-15004
chr107358406473584145E067-14744
chr107358777773587918E067-10971
chr107359171673592023E067-6866
chr107359205573592329E067-6560
chr107359238073592461E067-6428
chr107359332573593411E067-5478
chr107359342673593509E067-5380
chr107359383173593933E067-4956
chr107359397773594073E067-4816
chr107359423873594304E067-4585
chr107359440773594507E067-4382
chr107359525173595305E067-3584
chr107359532373595373E067-3516
chr107359540673595540E067-3349
chr107359559173599020E0670
chr107360120273601267E0672313
chr107360136073601420E0672471
chr107360180773601870E0672918
chr107360191773602024E0673028
chr107360207473602118E0673185
chr107360230073602432E0673411
chr107360257973602629E0673690
chr107360265373602902E0673764
chr107360294073603371E0674051
chr107360342573603502E0674536
chr107360354873603683E0674659
chr107360392773603986E0675038
chr107360401673604070E0675127
chr107360526773605360E0676378
chr107360542173605680E0676532
chr107360587473606207E0676985
chr107360659773606871E0677708
chr107360712273607319E0678233
chr107360734773607401E0678458
chr107361377473614153E06714885
chr107361416373614238E06715274
chr107361928573619552E06720396
chr107361963273619761E06720743
chr107361982973621045E06720940
chr107362118673621306E06722297
chr107364290373643024E06744014
chr107364303473643647E06744145
chr107357090273571234E068-27655
chr107357166373572152E068-26737
chr107357217973572806E068-26083
chr107357577873575828E068-23061
chr107357589873575985E068-22904
chr107357599073576050E068-22839
chr107357620373576306E068-22583
chr107357633473576384E068-22505
chr107357644073576500E068-22389
chr107357651173576597E068-22292
chr107357665173576701E068-22188
chr107357683173577310E068-21579
chr107357734773577459E068-21430
chr107357757373578109E068-20780
chr107357819573578385E068-20504
chr107357843573578487E068-20402
chr107357852973578662E068-20227
chr107357883373578899E068-19990
chr107358332473583376E068-15513
chr107359100473591054E068-7835
chr107359108873591421E068-7468
chr107359154773591601E068-7288
chr107359171673592023E068-6866
chr107359205573592329E068-6560
chr107359238073592461E068-6428
chr107359281673592999E068-5890
chr107359307173593121E068-5768
chr107359332573593411E068-5478
chr107359342673593509E068-5380
chr107359383173593933E068-4956
chr107359397773594073E068-4816
chr107359423873594304E068-4585
chr107359440773594507E068-4382
chr107359525173595305E068-3584
chr107359532373595373E068-3516
chr107359540673595540E068-3349
chr107359930573599459E068416
chr107360120273601267E0682313
chr107360136073601420E0682471
chr107360180773601870E0682918
chr107360191773602024E0683028
chr107360207473602118E0683185
chr107360230073602432E0683411
chr107360342573603502E0684536
chr107360354873603683E0684659
chr107360392773603986E0685038
chr107360401673604070E0685127
chr107360505573605129E0686166
chr107360526773605360E0686378
chr107360542173605680E0686532
chr107360587473606207E0686985
chr107360659773606871E0687708
chr107361963273619761E06820743
chr107362118673621306E06822297
chr107362747973628435E06828590
chr107364252673642662E06843637
chr107364276973642843E06843880
chr107364290373643024E06844014
chr107364303473643647E06844145
chr107364765973648142E06848770
chr107357166373572152E069-26737
chr107357217973572806E069-26083
chr107357283373572890E069-25999
chr107357577873575828E069-23061
chr107357589873575985E069-22904
chr107357599073576050E069-22839
chr107357620373576306E069-22583
chr107357633473576384E069-22505
chr107357644073576500E069-22389
chr107357651173576597E069-22292
chr107357665173576701E069-22188
chr107357683173577310E069-21579
chr107357734773577459E069-21430
chr107357757373578109E069-20780
chr107357819573578385E069-20504
chr107357843573578487E069-20402
chr107357852973578662E069-20227
chr107358292873583032E069-15857
chr107358309473583187E069-15702
chr107358332473583376E069-15513
chr107358360773583885E069-15004
chr107358406473584145E069-14744
chr107358753673587606E069-11283
chr107358768673587737E069-11152
chr107358777773587918E069-10971
chr107359100473591054E069-7835
chr107359108873591421E069-7468
chr107359154773591601E069-7288
chr107359171673592023E069-6866
chr107359205573592329E069-6560
chr107359238073592461E069-6428
chr107359281673592999E069-5890
chr107359307173593121E069-5768
chr107359332573593411E069-5478
chr107359342673593509E069-5380
chr107359383173593933E069-4956
chr107359397773594073E069-4816
chr107359423873594304E069-4585
chr107359440773594507E069-4382
chr107359525173595305E069-3584
chr107359532373595373E069-3516
chr107359540673595540E069-3349
chr107359559173599020E0690
chr107359930573599459E069416
chr107360080173601080E0691912
chr107360120273601267E0692313
chr107360136073601420E0692471
chr107360180773601870E0692918
chr107360191773602024E0693028
chr107360207473602118E0693185
chr107360230073602432E0693411
chr107360257973602629E0693690
chr107360265373602902E0693764
chr107360294073603371E0694051
chr107360342573603502E0694536
chr107360354873603683E0694659
chr107360392773603986E0695038
chr107360526773605360E0696378
chr107360542173605680E0696532
chr107360659773606871E0697708
chr107360712273607319E0698233
chr107360734773607401E0698458
chr107360760373607655E0698714
chr107360769273607790E0698803
chr107361170873612613E06912819
chr107361377473614153E06914885
chr107361416373614238E06915274
chr107361928573619552E06920396
chr107361963273619761E06920743
chr107361982973621045E06920940
chr107362118673621306E06922297
chr107362747973628435E06928590
chr107364011973640240E06941230
chr107364027173640489E06941382
chr107364049473640602E06941605
chr107364252673642662E06943637
chr107364276973642843E06943880
chr107364290373643024E06944014
chr107364303473643647E06944145
chr107364755773647629E06948668
chr107364765973648142E06948770
chr107356429473564382E070-34507
chr107356445373564503E070-34386
chr107356465273564702E070-34187
chr107356473773564828E070-34061
chr107359332573593411E070-5478
chr107359342673593509E070-5380
chr107359383173593933E070-4956
chr107359397773594073E070-4816
chr107359423873594304E070-4585
chr107359559173599020E0700
chr107359930573599459E070416
chr107360080173601080E0701912
chr107360120273601267E0702313
chr107360136073601420E0702471
chr107360542173605680E0706532
chr107360587473606207E0706985
chr107360659773606871E0707708
chr107360712273607319E0708233
chr107360734773607401E0708458
chr107360760373607655E0708714
chr107360769273607790E0708803
chr107361928573619552E07020396
chr107361963273619761E07020743
chr107361982973621045E07020940
chr107364252673642662E07043637
chr107364276973642843E07043880
chr107364290373643024E07044014
chr107364303473643647E07044145
chr107355686473558261E071-40628
chr107357166373572152E071-26737
chr107357217973572806E071-26083
chr107357283373572890E071-25999
chr107357535773575638E071-23251
chr107357577873575828E071-23061
chr107357589873575985E071-22904
chr107357599073576050E071-22839
chr107357620373576306E071-22583
chr107357633473576384E071-22505
chr107357644073576500E071-22389
chr107357651173576597E071-22292
chr107357665173576701E071-22188
chr107357683173577310E071-21579
chr107357734773577459E071-21430
chr107357757373578109E071-20780
chr107357819573578385E071-20504
chr107357843573578487E071-20402
chr107357852973578662E071-20227
chr107357883373578899E071-19990
chr107357905673579218E071-19671
chr107358292873583032E071-15857
chr107358309473583187E071-15702
chr107358332473583376E071-15513
chr107358360773583885E071-15004
chr107358406473584145E071-14744
chr107358466573584782E071-14107
chr107358486573584915E071-13974
chr107358494673585048E071-13841
chr107358513373585270E071-13619
chr107359205573592329E071-6560
chr107359238073592461E071-6428
chr107359281673592999E071-5890
chr107359307173593121E071-5768
chr107359332573593411E071-5478
chr107359342673593509E071-5380
chr107359383173593933E071-4956
chr107359397773594073E071-4816
chr107359423873594304E071-4585
chr107359525173595305E071-3584
chr107359532373595373E071-3516
chr107359540673595540E071-3349
chr107359559173599020E0710
chr107359930573599459E071416
chr107360120273601267E0712313
chr107360136073601420E0712471
chr107360180773601870E0712918
chr107360191773602024E0713028
chr107360207473602118E0713185
chr107360230073602432E0713411
chr107360257973602629E0713690
chr107360265373602902E0713764
chr107360294073603371E0714051
chr107360342573603502E0714536
chr107360354873603683E0714659
chr107360392773603986E0715038
chr107360401673604070E0715127
chr107360505573605129E0716166
chr107360526773605360E0716378
chr107360542173605680E0716532
chr107360587473606207E0716985
chr107360659773606871E0717708
chr107360712273607319E0718233
chr107360734773607401E0718458
chr107361377473614153E07114885
chr107361416373614238E07115274
chr107361799173618374E07119102
chr107361848573618549E07119596
chr107361928573619552E07120396
chr107361963273619761E07120743
chr107361982973621045E07120940
chr107362118673621306E07122297
chr107362131073621482E07122421
chr107362747973628435E07128590
chr107364011973640240E07141230
chr107364027173640489E07141382
chr107364049473640602E07141605
chr107364252673642662E07143637
chr107364276973642843E07143880
chr107364290373643024E07144014
chr107364303473643647E07144145
chr107364755773647629E07148668
chr107364765973648142E07148770
chr107357166373572152E072-26737
chr107357217973572806E072-26083
chr107357535773575638E072-23251
chr107357577873575828E072-23061
chr107357589873575985E072-22904
chr107357599073576050E072-22839
chr107357620373576306E072-22583
chr107357633473576384E072-22505
chr107357644073576500E072-22389
chr107357651173576597E072-22292
chr107357665173576701E072-22188
chr107357683173577310E072-21579
chr107357734773577459E072-21430
chr107357757373578109E072-20780
chr107357819573578385E072-20504
chr107357843573578487E072-20402
chr107357852973578662E072-20227
chr107357883373578899E072-19990
chr107357905673579218E072-19671
chr107357922973579314E072-19575
chr107358292873583032E072-15857
chr107358309473583187E072-15702
chr107358332473583376E072-15513
chr107358360773583885E072-15004
chr107358406473584145E072-14744
chr107359154773591601E072-7288
chr107359171673592023E072-6866
chr107359205573592329E072-6560
chr107359238073592461E072-6428
chr107359281673592999E072-5890
chr107359307173593121E072-5768
chr107359332573593411E072-5478
chr107359342673593509E072-5380
chr107359383173593933E072-4956
chr107359397773594073E072-4816
chr107359423873594304E072-4585
chr107359525173595305E072-3584
chr107359532373595373E072-3516
chr107359540673595540E072-3349
chr107359559173599020E0720
chr107359930573599459E072416
chr107360080173601080E0721912
chr107360120273601267E0722313
chr107360136073601420E0722471
chr107360180773601870E0722918
chr107360191773602024E0723028
chr107360207473602118E0723185
chr107360230073602432E0723411
chr107360257973602629E0723690
chr107360265373602902E0723764
chr107360294073603371E0724051
chr107360342573603502E0724536
chr107360354873603683E0724659
chr107360392773603986E0725038
chr107360401673604070E0725127
chr107360505573605129E0726166
chr107360526773605360E0726378
chr107360542173605680E0726532
chr107360587473606207E0726985
chr107360659773606871E0727708
chr107360712273607319E0728233
chr107360734773607401E0728458
chr107361377473614153E07214885
chr107361416373614238E07215274
chr107361928573619552E07220396
chr107361963273619761E07220743
chr107361982973621045E07220940
chr107362118673621306E07222297
chr107362131073621482E07222421
chr107364290373643024E07244014
chr107364303473643647E07244145
chr107357166373572152E073-26737
chr107357577873575828E073-23061
chr107357589873575985E073-22904
chr107357599073576050E073-22839
chr107357620373576306E073-22583
chr107357633473576384E073-22505
chr107357644073576500E073-22389
chr107357651173576597E073-22292
chr107357665173576701E073-22188
chr107357683173577310E073-21579
chr107357734773577459E073-21430
chr107357757373578109E073-20780
chr107357819573578385E073-20504
chr107357843573578487E073-20402
chr107357852973578662E073-20227
chr107357883373578899E073-19990
chr107357905673579218E073-19671
chr107358777773587918E073-10971
chr107358830173588351E073-10538
chr107358852873588578E073-10311
chr107358862273588878E073-10011
chr107359154773591601E073-7288
chr107359171673592023E073-6866
chr107359205573592329E073-6560
chr107359238073592461E073-6428
chr107359281673592999E073-5890
chr107359307173593121E073-5768
chr107359332573593411E073-5478
chr107359342673593509E073-5380
chr107359383173593933E073-4956
chr107359397773594073E073-4816
chr107359423873594304E073-4585
chr107359525173595305E073-3584
chr107359532373595373E073-3516
chr107359540673595540E073-3349
chr107359559173599020E0730
chr107359930573599459E073416
chr107360080173601080E0731912
chr107360120273601267E0732313
chr107360136073601420E0732471
chr107360180773601870E0732918
chr107360191773602024E0733028
chr107360207473602118E0733185
chr107360230073602432E0733411
chr107360294073603371E0734051
chr107360342573603502E0734536
chr107360354873603683E0734659
chr107360505573605129E0736166
chr107360526773605360E0736378
chr107360542173605680E0736532
chr107360659773606871E0737708
chr107360712273607319E0738233
chr107360734773607401E0738458
chr107361982973621045E07320940
chr107362118673621306E07322297
chr107362131073621482E07322421
chr107362747973628435E07328590
chr107364276973642843E07343880
chr107364290373643024E07344014
chr107364303473643647E07344145
chr107356495673565071E074-33818
chr107356516773566311E074-32578
chr107357535773575638E074-23251
chr107357577873575828E074-23061
chr107357589873575985E074-22904
chr107357599073576050E074-22839
chr107357620373576306E074-22583
chr107357633473576384E074-22505
chr107357644073576500E074-22389
chr107357651173576597E074-22292
chr107357665173576701E074-22188
chr107357683173577310E074-21579
chr107357734773577459E074-21430
chr107357757373578109E074-20780
chr107357819573578385E074-20504
chr107357843573578487E074-20402
chr107357852973578662E074-20227
chr107357883373578899E074-19990
chr107357905673579218E074-19671
chr107358292873583032E074-15857
chr107358309473583187E074-15702
chr107358332473583376E074-15513
chr107358360773583885E074-15004
chr107359022473590976E074-7913
chr107359100473591054E074-7835
chr107359108873591421E074-7468
chr107359154773591601E074-7288
chr107359171673592023E074-6866
chr107359205573592329E074-6560
chr107359238073592461E074-6428
chr107359281673592999E074-5890
chr107359307173593121E074-5768
chr107359332573593411E074-5478
chr107359342673593509E074-5380
chr107359383173593933E074-4956
chr107359397773594073E074-4816
chr107359423873594304E074-4585
chr107359440773594507E074-4382
chr107359525173595305E074-3584
chr107359532373595373E074-3516
chr107359540673595540E074-3349
chr107359559173599020E0740
chr107359930573599459E074416
chr107360080173601080E0741912
chr107360120273601267E0742313
chr107360136073601420E0742471
chr107360180773601870E0742918
chr107360191773602024E0743028
chr107360207473602118E0743185
chr107360230073602432E0743411
chr107360257973602629E0743690
chr107360265373602902E0743764
chr107360294073603371E0744051
chr107360342573603502E0744536
chr107360354873603683E0744659
chr107360392773603986E0745038
chr107360401673604070E0745127
chr107360461073604723E0745721
chr107360505573605129E0746166
chr107360526773605360E0746378
chr107360542173605680E0746532
chr107360587473606207E0746985
chr107360659773606871E0747708
chr107360712273607319E0748233
chr107360734773607401E0748458
chr107360760373607655E0748714
chr107360769273607790E0748803
chr107361170873612613E07412819
chr107361377473614153E07414885
chr107361416373614238E07415274
chr107361431573614359E07415426
chr107361928573619552E07420396
chr107361963273619761E07420743
chr107361982973621045E07420940
chr107362118673621306E07422297
chr107364252673642662E07443637
chr107364276973642843E07443880
chr107364290373643024E07444014
chr107364303473643647E07444145
chr107364755773647629E07448668
chr107364765973648142E07448770
chr107356377173564237E081-34652
chr107356429473564382E081-34507
chr107356445373564503E081-34386
chr107356682873566912E081-31977
chr107357620373576306E081-22583
chr107357633473576384E081-22505
chr107357644073576500E081-22389
chr107357651173576597E081-22292
chr107357665173576701E081-22188
chr107357683173577310E081-21579
chr107357734773577459E081-21430
chr107359559173599020E0810
chr107359930573599459E081416
chr107359971473600627E081825
chr107360080173601080E0811912
chr107360120273601267E0812313
chr107360136073601420E0812471
chr107360180773601870E0812918
chr107360191773602024E0813028
chr107360207473602118E0813185
chr107360265373602902E0813764
chr107360294073603371E0814051
chr107360659773606871E0817708
chr107360712273607319E0818233
chr107360734773607401E0818458
chr107360760373607655E0818714
chr107360769273607790E0818803
chr107360783773608002E0818948
chr107360891773609124E08110028
chr107356377173564237E082-34652
chr107359540673595540E082-3349
chr107359559173599020E0820
chr107360080173601080E0821912
chr107360120273601267E0822313
chr107360136073601420E0822471
chr107360257973602629E0823690
chr107360265373602902E0823764
chr107360294073603371E0824051
chr107360542173605680E0826532
chr107360734773607401E0828458
chr107360760373607655E0828714
chr107360769273607790E0828803
chr107360783773608002E0828948
chr107364276973642843E08243880
chr107364290373643024E08244014
chr107364303473643647E08244145










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr107360992473611623E06711035
chr107360992473611623E06811035
chr107360992473611623E06911035
chr107360992473611623E07011035
chr107360992473611623E07111035
chr107360992473611623E07211035
chr107360992473611623E07311035
chr107360992473611623E07411035
chr107360992473611623E08111035
chr107360992473611623E08211035