rs6472851

Homo sapiens
C>G
GDAP1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0443 (13267/29930,GnomAD)
G=0487 (14187/29118,TOPMED)
G=0499 (2497/5008,1000G)
C==0389 (1498/3854,ALSPAC)
C==0362 (1344/3708,TWINSUK)
chr8:74426395 (GRCh38.p7) (8q21.11)
ND
GWASdb2
1   publication(s)
See rs on genome
19 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.74426395C>G
GRCh37.p13 chr 8NC_000008.10:g.75338630C>G
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
1000GenomesAfricanSub1322C=0.691G=0.309
1000GenomesAmericanSub694C=0.390G=0.610
1000GenomesEast AsianSub1008C=0.441G=0.559
1000GenomesEuropeSub1006C=0.355G=0.645
1000GenomesGlobalStudy-wide5008C=0.501G=0.499
1000GenomesSouth AsianSub978C=0.540G=0.460
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.389G=0.611
The Genome Aggregation DatabaseAfricanSub8716C=0.657G=0.343
The Genome Aggregation DatabaseAmericanSub838C=0.360G=0.640
The Genome Aggregation DatabaseEast AsianSub1614C=0.406G=0.594
The Genome Aggregation DatabaseEuropeSub18460C=0.350G=0.649
The Genome Aggregation DatabaseGlobalStudy-wide29930C=0.443G=0.556
The Genome Aggregation DatabaseOtherSub302C=0.390G=0.610
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.512G=0.487
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.362G=0.638
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
rs64728510.000316nicotine dependence17158188

eQTL of rs6472851 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 rs6472851 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 )
chr87537632675377086E06837696
chr87537569675375764E07037066
chr87537632675377086E07037696
chr87537709175377211E07038461
chr87537727075377324E07038640
chr87537756675377834E07038936
chr87537632675377086E07137696
chr87533924975339447E072619
chr87535685475356976E07218224
chr87535703475357426E07218404
chr87535635575356694E08117725
chr87535685475356976E08118224
chr87536789375368036E08129263
chr87536863675368779E08130006
chr87536879775368885E08130167
chr87537600075376153E08137370
chr87537632675377086E08137696
chr87537756675377834E08138936
chr87537785475377973E08139224