rs4310196

Homo sapiens
C>A
GDAP1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0480 (14353/29892,GnomAD)
A=0458 (13338/29118,TOPMED)
A=0496 (2482/5008,1000G)
C==0492 (1896/3854,ALSPAC)
C==0472 (1751/3708,TWINSUK)
chr8:74360492 (GRCh38.p7) (8q21.11)
ND
GWASdb2
1   publication(s)
See rs on genome
19 Enhancers around
52 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.74360492C>A
GRCh37.p13 chr 8NC_000008.10:g.75272727C>A
GDAP1 RefSeqGene LRG_244

Gene: GDAP1, ganglioside induced differentiation associated protein 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
GDAP1 transcript variant 2NM_001040875.2:c.N/AIntron Variant
GDAP1 transcript variant 1NM_018972.2:c.N/AIntron Variant
GDAP1 transcript variant 3NR_046346.1:n.N/AIntron Variant
GDAP1 transcript variant X1XM_011517551.2:c.N/AIntron Variant
GDAP1 transcript variant X4XM_011517552.2:c.N/AIntron Variant
GDAP1 transcript variant X2XM_017013585.1:c.N/AIntron Variant
GDAP1 transcript variant X3XM_017013586.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.619A=0.381
1000GenomesAmericanSub694C=0.410A=0.590
1000GenomesEast AsianSub1008C=0.421A=0.579
1000GenomesEuropeSub1006C=0.454A=0.546
1000GenomesGlobalStudy-wide5008C=0.504A=0.496
1000GenomesSouth AsianSub978C=0.560A=0.440
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.492A=0.508
The Genome Aggregation DatabaseAfricanSub8696C=0.615A=0.385
The Genome Aggregation DatabaseAmericanSub838C=0.400A=0.600
The Genome Aggregation DatabaseEast AsianSub1610C=0.394A=0.606
The Genome Aggregation DatabaseEuropeSub18446C=0.491A=0.508
The Genome Aggregation DatabaseGlobalStudy-wide29892C=0.519A=0.480
The Genome Aggregation DatabaseOtherSub302C=0.500A=0.500
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.541A=0.458
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.472A=0.528
PMID Title Author Journal
17158188Novel genes identified in a high-density genome wide association study for nicotine dependence.Bierut LJHum Mol Genet

P-Value

SNP ID p-value Traits Study
rs43101960.000864nicotine dependence17158188

eQTL of rs4310196 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr8:75272727CTD-2320G14.2ENSG00000253596.1C>A2.4599e-310442Frontal_Cortex_BA9
Chr8:75272727CTD-2320G14.2ENSG00000253596.1C>A1.1349e-210442Cortex

meQTL of rs4310196 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 )
chr87526429975264349E067-8378
chr87526452075264604E067-8123
chr87526429975264349E068-8378
chr87526452075264604E068-8123
chr87526429975264349E069-8378
chr87523982275239939E070-32788
chr87524030975240904E070-31823
chr87526429975264349E072-8378
chr87526452075264604E072-8123
chr87526429975264349E073-8378
chr87526452075264604E073-8123
chr87522955575229723E081-43004
chr87526118975261249E081-11478
chr87526429975264349E081-8378
chr87526452075264604E081-8123
chr87526118975261249E082-11478
chr87526577775265834E082-6893
chr87526591475265985E082-6742
chr87527160575271645E082-1082








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr87523156575231747E067-40980
chr87523183875232048E067-40679
chr87523225875234867E067-37860
chr87526204275262107E067-10620
chr87526216475263270E067-9457
chr87523088475231011E068-41716
chr87523123775231515E068-41212
chr87523156575231747E068-40980
chr87523183875232048E068-40679
chr87523225875234867E068-37860
chr87526155475261648E068-11079
chr87526187675261926E068-10801
chr87526204275262107E068-10620
chr87526216475263270E068-9457
chr87523183875232048E069-40679
chr87523225875234867E069-37860
chr87526187675261926E069-10801
chr87526204275262107E069-10620
chr87526216475263270E069-9457
chr87523183875232048E070-40679
chr87523225875234867E070-37860
chr87526155475261648E070-11079
chr87526187675261926E070-10801
chr87526204275262107E070-10620
chr87526216475263270E070-9457
chr87526204275262107E071-10620
chr87526216475263270E071-9457
chr87523183875232048E072-40679
chr87523225875234867E072-37860
chr87526155475261648E072-11079
chr87526187675261926E072-10801
chr87526204275262107E072-10620
chr87526216475263270E072-9457
chr87523225875234867E073-37860
chr87526187675261926E073-10801
chr87526204275262107E073-10620
chr87526216475263270E073-9457
chr87523225875234867E074-37860
chr87526216475263270E074-9457
chr87523225875234867E081-37860
chr87526187675261926E081-10801
chr87526204275262107E081-10620
chr87526216475263270E081-9457
chr87523088475231011E082-41716
chr87523123775231515E082-41212
chr87523156575231747E082-40980
chr87523183875232048E082-40679
chr87523225875234867E082-37860
chr87526155475261648E082-11079
chr87526187675261926E082-10801
chr87526204275262107E082-10620
chr87526216475263270E082-9457