rs12573437

Homo sapiens
C>A
SH3PXD2A : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0096 (2876/29928,GnomAD)
A=0113 (3299/29118,TOPMED)
A=0128 (640/5008,1000G)
A=0090 (347/3854,ALSPAC)
A=0096 (357/3708,TWINSUK)
chr10:103843405 (GRCh38.p7) (10q24.33)
AD
GWASdb2
1   publication(s)
See rs on genome
178 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.103843405C>A
GRCh37.p13 chr 10NC_000010.10:g.105603163C>A

Gene: SH3PXD2A, SH3 and PX domains 2A(minus strand)

Molecule type Change Amino acid[Codon] SO Term
SH3PXD2A transcriptNM_014631.2:c.N/AIntron Variant
SH3PXD2A transcript variant X4XM_005270294.4:c.N/AIntron Variant
SH3PXD2A transcript variant X5XM_005270295.4:c.N/AIntron Variant
SH3PXD2A transcript variant X1XM_006718079.3:c.N/AIntron Variant
SH3PXD2A transcript variant X2XM_011540385.2:c.N/AIntron Variant
SH3PXD2A transcript variant X3XM_017016969.1:c.N/AIntron Variant
SH3PXD2A transcript variant X8XM_005270297.3:c.N/AGenic Upstream Transcript Variant
SH3PXD2A transcript variant X10XM_005270298.4:c.N/AGenic Upstream Transcript Variant
SH3PXD2A transcript variant X9XM_006718080.3:c.N/AGenic Upstream Transcript Variant
SH3PXD2A transcript variant X7XM_011540386.2:c.N/AGenic Upstream Transcript Variant
SH3PXD2A transcript variant X11XM_011540387.2:c.N/AGenic Upstream Transcript Variant
SH3PXD2A transcript variant X6XM_017016970.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.907A=0.093
1000GenomesAmericanSub694C=0.850A=0.150
1000GenomesEast AsianSub1008C=0.823A=0.177
1000GenomesEuropeSub1006C=0.904A=0.096
1000GenomesGlobalStudy-wide5008C=0.872A=0.128
1000GenomesSouth AsianSub978C=0.860A=0.140
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.910A=0.090
The Genome Aggregation DatabaseAfricanSub8708C=0.903A=0.097
The Genome Aggregation DatabaseAmericanSub838C=0.900A=0.100
The Genome Aggregation DatabaseEast AsianSub1616C=0.844A=0.156
The Genome Aggregation DatabaseEuropeSub18464C=0.909A=0.090
The Genome Aggregation DatabaseGlobalStudy-wide29928C=0.903A=0.096
The Genome Aggregation DatabaseOtherSub302C=0.940A=0.060
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.886A=0.113
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.904A=0.096
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
rs125734370.000676alcohol dependence20201924

eQTL of rs12573437 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 rs12573437 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 )
chr10105573860105574235E067-28928
chr10105574306105574403E067-28760
chr10105574451105574727E067-28436
chr10105576226105576316E067-26847
chr10105576318105576439E067-26724
chr10105588197105588387E067-14776
chr10105588428105588824E067-14339
chr10105588978105589051E067-14112
chr10105593397105594063E067-9100
chr10105594106105594170E067-8993
chr10105594255105594336E067-8827
chr10105594370105594459E067-8704
chr10105594593105594673E067-8490
chr10105594694105595312E067-7851
chr10105595321105595443E067-7720
chr10105599396105599653E067-3510
chr10105599671105600775E067-2388
chr10105603168105603445E0675
chr10105603487105604442E067324
chr10105609102105610585E0675939
chr10105610614105611020E0677451
chr10105618812105619863E06715649
chr10105568608105568799E068-34364
chr10105568962105569041E068-34122
chr10105594106105594170E068-8993
chr10105594255105594336E068-8827
chr10105594370105594459E068-8704
chr10105594593105594673E068-8490
chr10105594694105595312E068-7851
chr10105595321105595443E068-7720
chr10105599671105600775E068-2388
chr10105609102105610585E0685939
chr10105641050105642582E06837887
chr10105647379105648985E06844216
chr10105559858105561306E069-41857
chr10105561876105561926E069-41237
chr10105571367105571474E069-31689
chr10105571672105571733E069-31430
chr10105571822105572082E069-31081
chr10105588197105588387E069-14776
chr10105588428105588824E069-14339
chr10105588978105589051E069-14112
chr10105593397105594063E069-9100
chr10105594106105594170E069-8993
chr10105594255105594336E069-8827
chr10105594370105594459E069-8704
chr10105594593105594673E069-8490
chr10105594694105595312E069-7851
chr10105595321105595443E069-7720
chr10105595509105595854E069-7309
chr10105595866105595910E069-7253
chr10105596012105596136E069-7027
chr10105596146105596269E069-6894
chr10105596351105596431E069-6732
chr10105598656105599329E069-3834
chr10105599396105599653E069-3510
chr10105599671105600775E069-2388
chr10105600915105601217E069-1946
chr10105604568105604612E0691405
chr10105609102105610585E0695939
chr10105611377105611575E0698214
chr10105616796105616850E06913633
chr10105616896105616946E06913733
chr10105647379105648985E06944216
chr10105616796105616850E07013633
chr10105616896105616946E07013733
chr10105617039105617100E07013876
chr10105617328105617479E07014165
chr10105617523105617752E07014360
chr10105566957105567069E071-36094
chr10105567141105567332E071-35831
chr10105567392105567442E071-35721
chr10105567494105567562E071-35601
chr10105568608105568799E071-34364
chr10105568962105569041E071-34122
chr10105570294105571299E071-31864
chr10105571367105571474E071-31689
chr10105588428105588824E071-14339
chr10105588978105589051E071-14112
chr10105589274105589353E071-13810
chr10105593397105594063E071-9100
chr10105594106105594170E071-8993
chr10105594255105594336E071-8827
chr10105594370105594459E071-8704
chr10105594593105594673E071-8490
chr10105594694105595312E071-7851
chr10105595321105595443E071-7720
chr10105595509105595854E071-7309
chr10105599396105599653E071-3510
chr10105599671105600775E071-2388
chr10105600915105601217E071-1946
chr10105601252105601332E071-1831
chr10105603487105604442E071324
chr10105606182105606392E0713019
chr10105609102105610585E0715939
chr10105610614105611020E0717451
chr10105616796105616850E07113633
chr10105618119105618194E07114956
chr10105618249105618338E07115086
chr10105647379105648985E07144216
chr10105559858105561306E072-41857
chr10105568962105569041E072-34122
chr10105569131105569185E072-33978
chr10105570294105571299E072-31864
chr10105571367105571474E072-31689
chr10105571672105571733E072-31430
chr10105571822105572082E072-31081
chr10105588428105588824E072-14339
chr10105594694105595312E072-7851
chr10105595321105595443E072-7720
chr10105599671105600775E072-2388
chr10105600915105601217E072-1946
chr10105603487105604442E072324
chr10105609102105610585E0725939
chr10105616796105616850E07213633
chr10105637566105637606E07234403
chr10105637756105637930E07234593
chr10105643965105644895E07240802
chr10105568608105568799E073-34364
chr10105568962105569041E073-34122
chr10105594106105594170E073-8993
chr10105594255105594336E073-8827
chr10105594694105595312E073-7851
chr10105595321105595443E073-7720
chr10105598656105599329E073-3834
chr10105599396105599653E073-3510
chr10105599671105600775E073-2388
chr10105600915105601217E073-1946
chr10105603487105604442E073324
chr10105647379105648985E07344216
chr10105568608105568799E074-34364
chr10105568962105569041E074-34122
chr10105569131105569185E074-33978
chr10105570294105571299E074-31864
chr10105571367105571474E074-31689
chr10105571672105571733E074-31430
chr10105571822105572082E074-31081
chr10105573860105574235E074-28928
chr10105574306105574403E074-28760
chr10105574451105574727E074-28436
chr10105579777105580828E074-22335
chr10105588428105588824E074-14339
chr10105588978105589051E074-14112
chr10105593397105594063E074-9100
chr10105594106105594170E074-8993
chr10105594255105594336E074-8827
chr10105594370105594459E074-8704
chr10105594593105594673E074-8490
chr10105594694105595312E074-7851
chr10105595321105595443E074-7720
chr10105595509105595854E074-7309
chr10105595866105595910E074-7253
chr10105596012105596136E074-7027
chr10105596146105596269E074-6894
chr10105598656105599329E074-3834
chr10105599396105599653E074-3510
chr10105599671105600775E074-2388
chr10105600915105601217E074-1946
chr10105601252105601332E074-1831
chr10105603487105604442E074324
chr10105604568105604612E0741405
chr10105605540105605656E0742377
chr10105605703105606103E0742540
chr10105609102105610585E0745939
chr10105610614105611020E0747451
chr10105611029105611091E0747866
chr10105611203105611295E0748040
chr10105611377105611575E0748214
chr10105637566105637606E07434403
chr10105637756105637930E07434593
chr10105637989105638033E07434826
chr10105579777105580828E081-22335
chr10105618812105619863E08115649
chr10105619869105619937E08116706
chr10105647379105648985E08144216
chr10105599671105600775E082-2388
chr10105600915105601217E082-1946
chr10105601252105601332E082-1831










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr10105615184105616753E06712021
chr10105615184105616753E06812021
chr10105615184105616753E06912021
chr10105615184105616753E07012021
chr10105615184105616753E07112021
chr10105615184105616753E07212021
chr10105615184105616753E07312021
chr10105615184105616753E07412021
chr10105615184105616753E08212021