rs7813767

Homo sapiens
G>A
GDAP1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0472 (14139/29898,GnomAD)
G==0434 (12643/29118,TOPMED)
G==0483 (2420/5008,1000G)
A=0489 (1885/3854,ALSPAC)
A=0471 (1746/3708,TWINSUK)
chr8:74385107 (GRCh38.p7) (8q21.11)
ND
GWASdb2
1   publication(s)
See rs on genome
17 Enhancers around
30 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.74385107G>A
GRCh37.p13 chr 8NC_000008.10:g.75297342G>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/AGenic Downstream Transcript Variant
GDAP1 transcript variant 1NM_018972.2:c.N/AGenic Downstream Transcript Variant
GDAP1 transcript variant 3NR_046346.1:n.N/AGenic Downstream Transcript Variant
GDAP1 transcript variant X2XM_017013585.1:c.N/AIntron Variant
GDAP1 transcript variant X1XM_011517551.2:c.N/AGenic Downstream Transcript Variant
GDAP1 transcript variant X4XM_011517552.2:c.N/AGenic Downstream Transcript Variant
GDAP1 transcript variant X3XM_017013586.1:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.316A=0.684
1000GenomesAmericanSub694G=0.590A=0.410
1000GenomesEast AsianSub1008G=0.587A=0.413
1000GenomesEuropeSub1006G=0.550A=0.450
1000GenomesGlobalStudy-wide5008G=0.483A=0.517
1000GenomesSouth AsianSub978G=0.460A=0.540
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.511A=0.489
The Genome Aggregation DatabaseAfricanSub8696G=0.328A=0.672
The Genome Aggregation DatabaseAmericanSub830G=0.610A=0.390
The Genome Aggregation DatabaseEast AsianSub1612G=0.605A=0.395
The Genome Aggregation DatabaseEuropeSub18458G=0.522A=0.477
The Genome Aggregation DatabaseGlobalStudy-wide29898G=0.472A=0.527
The Genome Aggregation DatabaseOtherSub302G=0.520A=0.480
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.434A=0.565
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.529A=0.471
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
rs78137670.000819nicotine dependence17158188

eQTL of rs7813767 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr8:75297342GDAP1ENSG00000104381.8G>A2.0349e-563593Cerebellum
Chr8:75297342CTD-2320G14.2ENSG00000253596.1G>A2.4599e-335057Frontal_Cortex_BA9

meQTL of rs7813767 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 )
chr87526429975264349E067-32993
chr87526452075264604E067-32738
chr87526429975264349E068-32993
chr87526452075264604E068-32738
chr87526429975264349E069-32993
chr87526429975264349E072-32993
chr87526452075264604E072-32738
chr87533924975339447E07241907
chr87526429975264349E073-32993
chr87526452075264604E073-32738
chr87526118975261249E081-36093
chr87526429975264349E081-32993
chr87526452075264604E081-32738
chr87526118975261249E082-36093
chr87526577775265834E082-31508
chr87526591475265985E082-31357
chr87527160575271645E082-25697







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr87526204275262107E067-35235
chr87526216475263270E067-34072
chr87526155475261648E068-35694
chr87526187675261926E068-35416
chr87526204275262107E068-35235
chr87526216475263270E068-34072
chr87526187675261926E069-35416
chr87526204275262107E069-35235
chr87526216475263270E069-34072
chr87526155475261648E070-35694
chr87526187675261926E070-35416
chr87526204275262107E070-35235
chr87526216475263270E070-34072
chr87526204275262107E071-35235
chr87526216475263270E071-34072
chr87526155475261648E072-35694
chr87526187675261926E072-35416
chr87526204275262107E072-35235
chr87526216475263270E072-34072
chr87526187675261926E073-35416
chr87526204275262107E073-35235
chr87526216475263270E073-34072
chr87526216475263270E074-34072
chr87526187675261926E081-35416
chr87526204275262107E081-35235
chr87526216475263270E081-34072
chr87526155475261648E082-35694
chr87526187675261926E082-35416
chr87526204275262107E082-35235
chr87526216475263270E082-34072