rs3816195

Homo sapiens
T>G
SCN3A : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0171 (5125/29940,GnomAD)
G=0147 (4298/29118,TOPMED)
G=0184 (922/5008,1000G)
G=0200 (770/3854,ALSPAC)
G=0217 (806/3708,TWINSUK)
chr2:165099998 (GRCh38.p7) (2q24.3)
AD
GWASdb2
1   publication(s)
See rs on genome
45 Enhancers around
8 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.165099998T>G
GRCh37.p13 chr 2NC_000002.11:g.165956508T>G
SCN3A RefSeqGeneNG_042289.1:g.109091A>C

Gene: SCN3A, sodium voltage-gated channel alpha subunit 3(minus strand)

Molecule type Change Amino acid[Codon] SO Term
SCN3A transcript variant 2NM_001081676.1:c.N/AIntron Variant
SCN3A transcript variant 3NM_001081677.1:c.N/AIntron Variant
SCN3A transcript variant 1NM_006922.3:c.N/AIntron Variant
SCN3A transcript variant X1XM_011511610.2:c.N/AIntron Variant
SCN3A transcript variant X5XM_011511613.2:c.N/AIntron Variant
SCN3A transcript variant X2XM_017004660.1:c.N/AIntron Variant
SCN3A transcript variant X3XM_017004661.1:c.N/AIntron Variant
SCN3A transcript variant X4XM_017004662.1:c.N/AIntron Variant
SCN3A transcript variant X6XM_017004663.1:c.N/AIntron Variant
SCN3A transcript variant X7XM_017004664.1:c.N/AGenic Downstream Transcript Variant
SCN3A transcript variant X8XM_017004665.1:c.N/AGenic Downstream Transcript Variant
SCN3A transcript variant X9XM_017004666.1:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.973G=0.027
1000GenomesAmericanSub694T=0.830G=0.170
1000GenomesEast AsianSub1008T=0.739G=0.261
1000GenomesEuropeSub1006T=0.783G=0.217
1000GenomesGlobalStudy-wide5008T=0.816G=0.184
1000GenomesSouth AsianSub978T=0.710G=0.290
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.800G=0.200
The Genome Aggregation DatabaseAfricanSub8726T=0.945G=0.055
The Genome Aggregation DatabaseAmericanSub838T=0.800G=0.200
The Genome Aggregation DatabaseEast AsianSub1614T=0.751G=0.249
The Genome Aggregation DatabaseEuropeSub18460T=0.783G=0.216
The Genome Aggregation DatabaseGlobalStudy-wide29940T=0.828G=0.171
The Genome Aggregation DatabaseOtherSub302T=0.730G=0.270
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.852G=0.147
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.783G=0.217
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs38161950.000529alcohol dependence24277619

eQTL of rs3816195 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 rs3816195 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 )
chr2165925233165925321E067-31187
chr2165970211165970432E06713703
chr2165970731165970859E06714223
chr2165970908165971087E06714400
chr2165971117165971281E06714609
chr2165925233165925321E068-31187
chr2165925425165925964E068-30544
chr2165925233165925321E069-31187
chr2165925425165925964E069-30544
chr2165923770165923827E070-32681
chr2165925233165925321E070-31187
chr2165925425165925964E070-30544
chr2165926259165926309E070-30199
chr2165926600165926860E070-29648
chr2165970731165970859E07014223
chr2165970908165971087E07014400
chr2165971117165971281E07014609
chr2165925425165925964E071-30544
chr2165910752165910857E081-45651
chr2165910979165911159E081-45349
chr2165911969165912102E081-44406
chr2165912123165912204E081-44304
chr2165921386165921493E081-35015
chr2165922252165922462E081-34046
chr2165922734165923038E081-33470
chr2165923770165923827E081-32681
chr2165925233165925321E081-31187
chr2165925425165925964E081-30544
chr2165926259165926309E081-30199
chr2165926600165926860E081-29648
chr2165926935165926985E081-29523
chr2165927092165927329E081-29179
chr2165998289165998360E08141781
chr2165998503165998835E08141995
chr2165999833165999927E08143325
chr2166000953166001082E08144445
chr2165910979165911159E082-45349
chr2165911969165912102E082-44406
chr2165925233165925321E082-31187
chr2165925425165925964E082-30544
chr2165926600165926860E082-29648
chr2165926935165926985E082-29523
chr2165927698165927748E082-28760
chr2165998503165998835E08241995
chr2165999833165999927E08243325







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2165924281165925143E067-31365
chr2165924281165925143E068-31365
chr2165924281165925143E069-31365
chr2165924281165925143E070-31365
chr2165924281165925143E071-31365
chr2165924281165925143E072-31365
chr2165924281165925143E074-31365
chr2165924281165925143E082-31365