rs7078551

Homo sapiens
C>T
PRTFDC1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0290 (8706/29944,GnomAD)
T=0279 (8146/29118,TOPMED)
T=0277 (1389/5008,1000G)
T=0315 (1214/3854,ALSPAC)
T=0339 (1257/3708,TWINSUK)
chr10:24885797 (GRCh38.p7) (10p12.1)
AD
GWASdb2
1   publication(s)
See rs on genome
389 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.24885797C>T
GRCh37.p13 chr 10NC_000010.10:g.25174726C>T

Gene: PRTFDC1, phosphoribosyl transferase domain containing 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
PRTFDC1 transcript variant 2NM_001282786.1:c.N/AIntron Variant
PRTFDC1 transcript variant 1NM_020200.6:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.781T=0.219
1000GenomesAmericanSub694C=0.640T=0.360
1000GenomesEast AsianSub1008C=0.795T=0.205
1000GenomesEuropeSub1006C=0.688T=0.312
1000GenomesGlobalStudy-wide5008C=0.723T=0.277
1000GenomesSouth AsianSub978C=0.670T=0.330
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.685T=0.315
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.720T=0.279
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.661T=0.339
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs70785510.00061alcohol dependence20201924

eQTL of rs7078551 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 rs7078551 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 )
chr102513541325136465E067-38261
chr102513655125136987E067-37739
chr102513713725137525E067-37201
chr102513753625137814E067-36912
chr102513786425139309E067-35417
chr102513961025139702E067-35024
chr102513974425139875E067-34851
chr102513988425139934E067-34792
chr102513998125140053E067-34673
chr102514024425140456E067-34270
chr102514048025140921E067-33805
chr102514093325141051E067-33675
chr102514566025145773E067-28953
chr102514614125146768E067-27958
chr102515347125153521E067-21205
chr102515413325154532E067-20194
chr102515468225154802E067-19924
chr102515492825155010E067-19716
chr102515511525155165E067-19561
chr102515520325155253E067-19473
chr102515534825155454E067-19272
chr102515548525155741E067-18985
chr102515590625155996E067-18730
chr102515974625159796E067-14930
chr102515989225159932E067-14794
chr102516177425162746E067-11980
chr102517211625172280E067-2446
chr102518873325188798E06714007
chr102518884825188898E06714122
chr102518894125189053E06714215
chr102518906025189123E06714334
chr102518913925189218E06714413
chr102518925425189464E06714528
chr102519038525190575E06715659
chr102519062725191664E06715901
chr102519698225197133E06722256
chr102519737925197528E06722653
chr102519757425197644E06722848
chr102519786925198394E06723143
chr102520433525204513E06729609
chr102520452825204686E06729802
chr102520469125204768E06729965
chr102520985725210116E06735131
chr102521016725210710E06735441
chr102521496025215000E06740234
chr102521510325215163E06740377
chr102521604525216183E06741319
chr102521619425216355E06741468
chr102521813825218386E06743412
chr102521842825218779E06743702
chr102521890825218958E06744182
chr102521903425219154E06744308
chr102513541325136465E068-38261
chr102513713725137525E068-37201
chr102513753625137814E068-36912
chr102513961025139702E068-35024
chr102513974425139875E068-34851
chr102513988425139934E068-34792
chr102513998125140053E068-34673
chr102514024425140456E068-34270
chr102514048025140921E068-33805
chr102514093325141051E068-33675
chr102514614125146768E068-27958
chr102515468225154802E068-19924
chr102515492825155010E068-19716
chr102515511525155165E068-19561
chr102515520325155253E068-19473
chr102515534825155454E068-19272
chr102515548525155741E068-18985
chr102515590625155996E068-18730
chr102516177425162746E068-11980
chr102517211625172280E068-2446
chr102517229325172423E068-2303
chr102517246325172638E068-2088
chr102517267025172718E068-2008
chr102517386325174094E068-632
chr102517409725174224E068-502
chr102517945625179622E0684730
chr102518838825188428E06813662
chr102518873325188798E06814007
chr102518884825188898E06814122
chr102518894125189053E06814215
chr102518906025189123E06814334
chr102518913925189218E06814413
chr102518925425189464E06814528
chr102518963525189679E06814909
chr102518974225190361E06815016
chr102519038525190575E06815659
chr102519062725191664E06815901
chr102520433525204513E06829609
chr102520452825204686E06829802
chr102520469125204768E06829965
chr102520483025204903E06830104
chr102520985725210116E06835131
chr102521016725210710E06835441
chr102521473525214785E06840009
chr102521496025215000E06840234
chr102521510325215163E06840377
chr102521555725215768E06840831
chr102521604525216183E06841319
chr102521619425216355E06841468
chr102521698225217061E06842256
chr102521720425217391E06842478
chr102521803025218127E06843304
chr102521813825218386E06843412
chr102521842825218779E06843702
chr102521890825218958E06844182
chr102521903425219154E06844308
chr102513541325136465E069-38261
chr102513655125136987E069-37739
chr102513713725137525E069-37201
chr102513961025139702E069-35024
chr102513974425139875E069-34851
chr102513988425139934E069-34792
chr102513998125140053E069-34673
chr102514093325141051E069-33675
chr102514566025145773E069-28953
chr102514614125146768E069-27958
chr102515590625155996E069-18730
chr102516177425162746E069-11980
chr102517915725179345E0694431
chr102517945625179622E0694730
chr102518807325188123E06913347
chr102518822825188326E06913502
chr102518838825188428E06913662
chr102518873325188798E06914007
chr102518884825188898E06914122
chr102518894125189053E06914215
chr102518906025189123E06914334
chr102518913925189218E06914413
chr102518925425189464E06914528
chr102518963525189679E06914909
chr102518974225190361E06915016
chr102519062725191664E06915901
chr102519757425197644E06922848
chr102519786925198394E06923143
chr102520433525204513E06929609
chr102520452825204686E06929802
chr102520469125204768E06929965
chr102520985725210116E06935131
chr102521016725210710E06935441
chr102521555725215768E06940831
chr102521803025218127E06943304
chr102521813825218386E06943412
chr102521842825218779E06943702
chr102521890825218958E06944182
chr102521903425219154E06944308
chr102521939025219475E06944664
chr102521951425219628E06944788
chr102513541325136465E070-38261
chr102513655125136987E070-37739
chr102514153525141585E070-33141
chr102514177625141826E070-32900
chr102514331325143466E070-31260
chr102514566025145773E070-28953
chr102514688525146935E070-27791
chr102514694625148046E070-26680
chr102515492825155010E070-19716
chr102515511525155165E070-19561
chr102515520325155253E070-19473
chr102515534825155454E070-19272
chr102515548525155741E070-18985
chr102515590625155996E070-18730
chr102516177425162746E070-11980
chr102519062725191664E07015901
chr102513541325136465E071-38261
chr102513655125136987E071-37739
chr102513713725137525E071-37201
chr102513753625137814E071-36912
chr102513786425139309E071-35417
chr102513961025139702E071-35024
chr102513974425139875E071-34851
chr102513988425139934E071-34792
chr102513998125140053E071-34673
chr102514024425140456E071-34270
chr102514048025140921E071-33805
chr102514093325141051E071-33675
chr102514614125146768E071-27958
chr102515413325154532E071-20194
chr102515468225154802E071-19924
chr102515492825155010E071-19716
chr102515511525155165E071-19561
chr102515520325155253E071-19473
chr102515534825155454E071-19272
chr102515548525155741E071-18985
chr102515590625155996E071-18730
chr102515974625159796E071-14930
chr102515989225159932E071-14794
chr102516177425162746E071-11980
chr102516283825162928E071-11798
chr102516781525167877E071-6849
chr102516792325167967E071-6759
chr102516801925168147E071-6579
chr102518822825188326E07113502
chr102518838825188428E07113662
chr102518873325188798E07114007
chr102518884825188898E07114122
chr102518894125189053E07114215
chr102518906025189123E07114334
chr102518913925189218E07114413
chr102518925425189464E07114528
chr102518963525189679E07114909
chr102518974225190361E07115016
chr102519038525190575E07115659
chr102519062725191664E07115901
chr102519757425197644E07122848
chr102519786925198394E07123143
chr102520433525204513E07129609
chr102520452825204686E07129802
chr102520469125204768E07129965
chr102520483025204903E07130104
chr102520985725210116E07135131
chr102521016725210710E07135441
chr102521813825218386E07143412
chr102521842825218779E07143702
chr102521890825218958E07144182
chr102521903425219154E07144308
chr102521939025219475E07144664
chr102521951425219628E07144788
chr102513713725137525E072-37201
chr102513753625137814E072-36912
chr102513786425139309E072-35417
chr102513961025139702E072-35024
chr102513974425139875E072-34851
chr102513988425139934E072-34792
chr102513998125140053E072-34673
chr102514024425140456E072-34270
chr102514614125146768E072-27958
chr102515413325154532E072-20194
chr102515468225154802E072-19924
chr102515492825155010E072-19716
chr102515511525155165E072-19561
chr102515520325155253E072-19473
chr102515534825155454E072-19272
chr102515548525155741E072-18985
chr102516177425162746E072-11980
chr102516283825162928E072-11798
chr102517211625172280E072-2446
chr102517229325172423E072-2303
chr102517246325172638E072-2088
chr102518838825188428E07213662
chr102518873325188798E07214007
chr102518884825188898E07214122
chr102518894125189053E07214215
chr102518906025189123E07214334
chr102518913925189218E07214413
chr102518925425189464E07214528
chr102518974225190361E07215016
chr102519038525190575E07215659
chr102520433525204513E07229609
chr102520452825204686E07229802
chr102520469125204768E07229965
chr102520483025204903E07230104
chr102520985725210116E07235131
chr102521016725210710E07235441
chr102521145325211639E07236727
chr102521186025211924E07237134
chr102521192925212005E07237203
chr102521803025218127E07243304
chr102521813825218386E07243412
chr102521842825218779E07243702
chr102521890825218958E07244182
chr102521903425219154E07244308
chr102521939025219475E07244664
chr102521951425219628E07244788
chr102513655125136987E073-37739
chr102513713725137525E073-37201
chr102513753625137814E073-36912
chr102513786425139309E073-35417
chr102513961025139702E073-35024
chr102513974425139875E073-34851
chr102513988425139934E073-34792
chr102513998125140053E073-34673
chr102514024425140456E073-34270
chr102514048025140921E073-33805
chr102514093325141051E073-33675
chr102514566025145773E073-28953
chr102514614125146768E073-27958
chr102514688525146935E073-27791
chr102516177425162746E073-11980
chr102518281125182961E0738085
chr102518316725184096E0738441
chr102518974225190361E07315016
chr102519038525190575E07315659
chr102519062725191664E07315901
chr102521016725210710E07335441
chr102521803025218127E07343304
chr102521813825218386E07343412
chr102521842825218779E07343702
chr102521890825218958E07344182
chr102521903425219154E07344308
chr102513541325136465E074-38261
chr102513655125136987E074-37739
chr102513713725137525E074-37201
chr102513786425139309E074-35417
chr102513961025139702E074-35024
chr102513974425139875E074-34851
chr102513988425139934E074-34792
chr102513998125140053E074-34673
chr102514024425140456E074-34270
chr102514048025140921E074-33805
chr102514093325141051E074-33675
chr102514566025145773E074-28953
chr102514614125146768E074-27958
chr102515413325154532E074-20194
chr102515468225154802E074-19924
chr102515548525155741E074-18985
chr102515590625155996E074-18730
chr102515603525156128E074-18598
chr102515615925156545E074-18181
chr102516177425162746E074-11980
chr102516939925169549E074-5177
chr102516955625169744E074-4982
chr102517211625172280E074-2446
chr102517229325172423E074-2303
chr102517246325172638E074-2088
chr102517267025172718E074-2008
chr102517317725173280E074-1446
chr102517338325173493E074-1233
chr102517363625173686E074-1040
chr102517868925178873E0743963
chr102517904825179092E0744322
chr102517915725179345E0744431
chr102518209425182194E0747368
chr102518223325182338E0747507
chr102518822825188326E07413502
chr102518838825188428E07413662
chr102518873325188798E07414007
chr102518884825188898E07414122
chr102518894125189053E07414215
chr102518906025189123E07414334
chr102518913925189218E07414413
chr102518925425189464E07414528
chr102518963525189679E07414909
chr102518974225190361E07415016
chr102519038525190575E07415659
chr102519062725191664E07415901
chr102519252125192571E07417795
chr102519287725192951E07418151
chr102519737925197528E07422653
chr102519757425197644E07422848
chr102519786925198394E07423143
chr102520433525204513E07429609
chr102520452825204686E07429802
chr102520469125204768E07429965
chr102520985725210116E07435131
chr102521016725210710E07435441
chr102521097725211036E07436251
chr102521496025215000E07440234
chr102521510325215163E07440377
chr102521555725215768E07440831
chr102521604525216183E07441319
chr102521619425216355E07441468
chr102521698225217061E07442256
chr102521803025218127E07443304
chr102521813825218386E07443412
chr102521842825218779E07443702
chr102521890825218958E07444182
chr102521903425219154E07444308
chr102513506125135412E081-39314
chr102513541325136465E081-38261
chr102513655125136987E081-37739
chr102513713725137525E081-37201
chr102513753625137814E081-36912
chr102513786425139309E081-35417
chr102513961025139702E081-35024
chr102513974425139875E081-34851
chr102513988425139934E081-34792
chr102513998125140053E081-34673
chr102514093325141051E081-33675
chr102514153525141585E081-33141
chr102514331325143466E081-31260
chr102514614125146768E081-27958
chr102515468225154802E081-19924
chr102515548525155741E081-18985
chr102515590625155996E081-18730
chr102515603525156128E081-18598
chr102515615925156545E081-18181
chr102521890825218958E08144182
chr102513541325136465E082-38261
chr102514153525141585E082-33141
chr102514177625141826E082-32900
chr102514260425142910E082-31816
chr102514313325143183E082-31543
chr102514331325143466E082-31260
chr102514566025145773E082-28953
chr102514614125146768E082-27958
chr102514694625148046E082-26680
chr102516177425162746E082-11980










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr102516006125160601E067-14125
chr102516006125160601E068-14125
chr102516006125160601E069-14125
chr102516006125160601E070-14125
chr102516006125160601E071-14125
chr102516006125160601E073-14125
chr102516006125160601E074-14125
chr102516006125160601E081-14125
chr102516006125160601E082-14125