rs10488838

Homo sapiens
A>G
ADD1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0018 (529/29332,GnomAD)
G=0025 (733/29118,TOPMED)
G=0016 (79/5008,1000G)
G=0007 (27/3854,ALSPAC)
G=0005 (18/3708,TWINSUK)
chr4:2879608 (GRCh38.p7) (4p16.3)
AD
GWASdb2
1   publication(s)
See rs on genome
343 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.2879608A>G
GRCh37.p13 chr 4NC_000004.11:g.2881335A>G
ADD1 RefSeqGeneNG_012037.1:g.40752A>G

Gene: ADD1, adducin 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ADD1 transcript variant 1NM_001119.4:c.N/AIntron Variant
ADD1 transcript variant 5NM_001286645.1:c.N/AIntron Variant
ADD1 transcript variant 2NM_014189.3:c.N/AIntron Variant
ADD1 transcript variant 3NM_014190.3:c.N/AIntron Variant
ADD1 transcript variant 4NM_176801.2:c.N/AIntron Variant
ADD1 transcript variant X1XM_005247933.2:c.N/AIntron Variant
ADD1 transcript variant X1XM_005247934.2:c.N/AIntron Variant
ADD1 transcript variant X4XM_005247935.2:c.N/AIntron Variant
ADD1 transcript variant X9XM_005247936.2:c.N/AIntron Variant
ADD1 transcript variant X11XM_005247937.2:c.N/AIntron Variant
ADD1 transcript variant X2XM_017007703.1:c.N/AIntron Variant
ADD1 transcript variant X3XM_017007704.1:c.N/AIntron Variant
ADD1 transcript variant X4XM_017007705.1:c.N/AIntron Variant
ADD1 transcript variant X7XM_017007706.1:c.N/AIntron Variant
ADD1 transcript variant X8XM_017007707.1:c.N/AIntron Variant
ADD1 transcript variant X10XM_017007708.1:c.N/AIntron Variant
ADD1 transcript variant X12XM_017007709.1:c.N/AIntron Variant
ADD1 transcript variant X13XM_017007710.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.956G=0.044
1000GenomesAmericanSub694A=0.990G=0.010
1000GenomesEast AsianSub1008A=0.999G=0.001
1000GenomesEuropeSub1006A=0.992G=0.008
1000GenomesGlobalStudy-wide5008A=0.984G=0.016
1000GenomesSouth AsianSub978A=1.000G=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.993G=0.007
The Genome Aggregation DatabaseAfricanSub8632A=0.953G=0.047
The Genome Aggregation DatabaseAmericanSub814A=0.990G=0.010
The Genome Aggregation DatabaseEast AsianSub1614A=1.000G=0.000
The Genome Aggregation DatabaseEuropeSub17970A=0.994G=0.006
The Genome Aggregation DatabaseGlobalStudy-wide29332A=0.982G=0.018
The Genome Aggregation DatabaseOtherSub302A=0.980G=0.020
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.974G=0.025
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.995G=0.005
PMID Title Author Journal

P-Value

SNP ID p-value Traits Study
rs104888382.33E-12alcohol consumptionpha001400

eQTL of rs10488838 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 rs10488838 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 )
chr428479842848046E067-33289
chr428490712849508E067-31827
chr428495112849680E067-31655
chr428514542851825E067-29510
chr428518632851930E067-29405
chr428541892854716E067-26619
chr428547252854790E067-26545
chr428634752863611E067-17724
chr428637322863812E067-17523
chr428638562864028E067-17307
chr428642472864721E067-16614
chr428647392864883E067-16452
chr428668782867009E067-14326
chr428670572867181E067-14154
chr428687222868903E067-12432
chr428690912869157E067-12178
chr428691952869245E067-12090
chr428733132873455E067-7880
chr428737252873925E067-7410
chr428747402875595E067-5740
chr428756482875694E067-5641
chr428758402875949E067-5386
chr428771062877879E067-3456
chr428841522884339E0672817
chr428884322888705E0677097
chr428930972893476E06711762
chr428955512895648E06714216
chr429249752925149E06743640
chr429255602925610E06744225
chr429257732925961E06744438
chr429262742926725E06744939
chr428388472838935E068-42400
chr428390082839189E068-42146
chr428490712849508E068-31827
chr428495112849680E068-31655
chr428511232851323E068-30012
chr428514542851825E068-29510
chr428518632851930E068-29405
chr428541892854716E068-26619
chr428566612856748E068-24587
chr428574872857562E068-23773
chr428575682857618E068-23717
chr428600202860075E068-21260
chr428601152860185E068-21150
chr428602562860549E068-20786
chr428606542860792E068-20543
chr428608142860864E068-20471
chr428612322861681E068-19654
chr428617792861850E068-19485
chr428618812862050E068-19285
chr428623212862382E068-18953
chr428634752863611E068-17724
chr428637322863812E068-17523
chr428638562864028E068-17307
chr428642472864721E068-16614
chr428647392864883E068-16452
chr428663202866413E068-14922
chr428664332866492E068-14843
chr428668782867009E068-14326
chr428670572867181E068-14154
chr428687222868903E068-12432
chr428690912869157E068-12178
chr428691952869245E068-12090
chr428714972871655E068-9680
chr428717122872031E068-9304
chr428733132873455E068-7880
chr428737252873925E068-7410
chr428743542874428E068-6907
chr428747402875595E068-5740
chr428756482875694E068-5641
chr428758402875949E068-5386
chr428771062877879E068-3456
chr428801512880286E068-1049
chr428803532880411E068-924
chr428805252880658E068-677
chr428808852880935E068-400
chr428930972893476E06811762
chr428955512895648E06814216
chr429121352912189E06830800
chr429122872912382E06830952
chr429249752925149E06843640
chr429255602925610E06844225
chr429257732925961E06844438
chr429262742926725E06844939
chr428388472838935E069-42400
chr428390082839189E069-42146
chr428511232851323E069-30012
chr428514542851825E069-29510
chr428518632851930E069-29405
chr428529992853178E069-28157
chr428531842853463E069-27872
chr428535372853747E069-27588
chr428574872857562E069-23773
chr428575682857618E069-23717
chr428602562860549E069-20786
chr428606542860792E069-20543
chr428617792861850E069-19485
chr428618812862050E069-19285
chr428623212862382E069-18953
chr428625092863005E069-18330
chr428634752863611E069-17724
chr428637322863812E069-17523
chr428638562864028E069-17307
chr428642472864721E069-16614
chr428647392864883E069-16452
chr428653202865375E069-15960
chr428653822865452E069-15883
chr428668782867009E069-14326
chr428670572867181E069-14154
chr428687222868903E069-12432
chr428690912869157E069-12178
chr428691952869245E069-12090
chr428712192871273E069-10062
chr428713732871429E069-9906
chr428714972871655E069-9680
chr428717122872031E069-9304
chr428733132873455E069-7880
chr428737252873925E069-7410
chr428747402875595E069-5740
chr428756482875694E069-5641
chr428758402875949E069-5386
chr428771062877879E069-3456
chr428832992883538E0691964
chr428837112883786E0692376
chr428841522884339E0692817
chr428930972893476E06911762
chr428942732894328E06912938
chr428955512895648E06914216
chr429242962924700E06942961
chr429249752925149E06943640
chr429255602925610E06944225
chr429257732925961E06944438
chr429262742926725E06944939
chr428388472838935E070-42400
chr428390082839189E070-42146
chr428490712849508E070-31827
chr428495112849680E070-31655
chr428498152849939E070-31396
chr428502252850534E070-30801
chr428506592850699E070-30636
chr428525792852667E070-28668
chr428528672852954E070-28381
chr428529992853178E070-28157
chr428625092863005E070-18330
chr428634752863611E070-17724
chr428637322863812E070-17523
chr428638562864028E070-17307
chr428642472864721E070-16614
chr428653202865375E070-15960
chr428663202866413E070-14922
chr428664332866492E070-14843
chr428668782867009E070-14326
chr428670572867181E070-14154
chr428679322868172E070-13163
chr428687222868903E070-12432
chr428690912869157E070-12178
chr428691952869245E070-12090
chr428706732870751E070-10584
chr428707962871104E070-10231
chr428712192871273E070-10062
chr428713732871429E070-9906
chr428714972871655E070-9680
chr428384032838530E071-42805
chr428388472838935E071-42400
chr428390082839189E071-42146
chr428479842848046E071-33289
chr428506592850699E071-30636
chr428507342850880E071-30455
chr428509422850996E071-30339
chr428511232851323E071-30012
chr428514542851825E071-29510
chr428518632851930E071-29405
chr428528672852954E071-28381
chr428529992853178E071-28157
chr428531842853463E071-27872
chr428566612856748E071-24587
chr428574872857562E071-23773
chr428575682857618E071-23717
chr428576272857729E071-23606
chr428602562860549E071-20786
chr428606542860792E071-20543
chr428608142860864E071-20471
chr428612322861681E071-19654
chr428617792861850E071-19485
chr428618812862050E071-19285
chr428623212862382E071-18953
chr428625092863005E071-18330
chr428634752863611E071-17724
chr428637322863812E071-17523
chr428638562864028E071-17307
chr428647392864883E071-16452
chr428653202865375E071-15960
chr428653822865452E071-15883
chr428657632865960E071-15375
chr428663202866413E071-14922
chr428664332866492E071-14843
chr428668782867009E071-14326
chr428670572867181E071-14154
chr428676322867871E071-13464
chr428679322868172E071-13163
chr428687222868903E071-12432
chr428690912869157E071-12178
chr428733132873455E071-7880
chr428737252873925E071-7410
chr428743542874428E071-6907
chr428747402875595E071-5740
chr428756482875694E071-5641
chr428758402875949E071-5386
chr428771062877879E071-3456
chr428801512880286E071-1049
chr428803532880411E071-924
chr428837112883786E0712376
chr428841522884339E0712817
chr428930972893476E07111762
chr428955512895648E07114216
chr429121352912189E07130800
chr429242962924700E07142961
chr429249752925149E07143640
chr429255602925610E07144225
chr429257732925961E07144438
chr429262742926725E07144939
chr428384032838530E072-42805
chr428388472838935E072-42400
chr428390082839189E072-42146
chr428634752863611E072-17724
chr428637322863812E072-17523
chr428638562864028E072-17307
chr428642472864721E072-16614
chr428647392864883E072-16452
chr428733132873455E072-7880
chr428737252873925E072-7410
chr428747402875595E072-5740
chr428756482875694E072-5641
chr428758402875949E072-5386
chr428881292888341E0726794
chr428930972893476E07211762
chr428955512895648E07214216
chr429249752925149E07243640
chr429255602925610E07244225
chr429257732925961E07244438
chr429262742926725E07244939
chr429268032926880E07245468
chr428384032838530E073-42805
chr428388472838935E073-42400
chr428390082839189E073-42146
chr428392152839469E073-41866
chr428511232851323E073-30012
chr428514542851825E073-29510
chr428518632851930E073-29405
chr428602562860549E073-20786
chr428712192871273E073-10062
chr428713732871429E073-9906
chr428714972871655E073-9680
chr428881292888341E0736794
chr428884322888705E0737097
chr428930972893476E07311762
chr428955512895648E07314216
chr429255602925610E07344225
chr429257732925961E07344438
chr429262742926725E07344939
chr428392152839469E074-41866
chr428511232851323E074-30012
chr428514542851825E074-29510
chr428518632851930E074-29405
chr428525792852667E074-28668
chr428528672852954E074-28381
chr428529992853178E074-28157
chr428531842853463E074-27872
chr428541892854716E074-26619
chr428547252854790E074-26545
chr428574872857562E074-23773
chr428575682857618E074-23717
chr428576272857729E074-23606
chr428602562860549E074-20786
chr428606542860792E074-20543
chr428623212862382E074-18953
chr428625092863005E074-18330
chr428634752863611E074-17724
chr428637322863812E074-17523
chr428638562864028E074-17307
chr428642472864721E074-16614
chr428647392864883E074-16452
chr428663202866413E074-14922
chr428664332866492E074-14843
chr428668782867009E074-14326
chr428670572867181E074-14154
chr428676322867871E074-13464
chr428679322868172E074-13163
chr428687222868903E074-12432
chr428690912869157E074-12178
chr428691952869245E074-12090
chr428717122872031E074-9304
chr428733132873455E074-7880
chr428737252873925E074-7410
chr428747402875595E074-5740
chr428756482875694E074-5641
chr428758402875949E074-5386
chr428771062877879E074-3456
chr428930972893476E07411762
chr428955512895648E07414216
chr429249752925149E07443640
chr429255602925610E07444225
chr429257732925961E07444438
chr429262742926725E07444939
chr428392152839469E081-41866
chr428479842848046E081-33289
chr428495112849680E081-31655
chr428498152849939E081-31396
chr428602562860549E081-20786
chr428606542860792E081-20543
chr428608142860864E081-20471
chr428612322861681E081-19654
chr428617792861850E081-19485
chr428618812862050E081-19285
chr428623212862382E081-18953
chr428625092863005E081-18330
chr428663202866413E081-14922
chr428664332866492E081-14843
chr428668782867009E081-14326
chr428670572867181E081-14154
chr428392152839469E082-41866
chr428507342850880E082-30455
chr428509422850996E082-30339
chr428511232851323E082-30012
chr428514542851825E082-29510
chr428518632851930E082-29405
chr428612322861681E082-19654
chr428617792861850E082-19485
chr428618812862050E082-19285
chr428623212862382E082-18953
chr428653822865452E082-15883
chr428657632865960E082-15375
chr428663202866413E082-14922
chr428664332866492E082-14843
chr428668782867009E082-14326
chr428670572867181E082-14154
chr428690912869157E082-12178
chr428691952869245E082-12090
chr428706732870751E082-10584
chr428707962871104E082-10231
chr428712192871273E082-10062
chr428713732871429E082-9906
chr428714972871655E082-9680










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr428444382846789E067-34546
chr428444382846789E068-34546
chr428444382846789E069-34546
chr428444382846789E070-34546
chr428444382846789E071-34546
chr428444382846789E072-34546
chr428444382846789E073-34546
chr428444382846789E074-34546
chr428444382846789E081-34546
chr428444382846789E082-34546