rs9298238

Homo sapiens
A>G
GDAP1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0428 (12795/29892,GnomAD)
G=0418 (12181/29118,TOPMED)
G=0413 (2068/5008,1000G)
G=0489 (1885/3854,ALSPAC)
G=0471 (1747/3708,TWINSUK)
chr8:74355383 (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.74355383A>G
GRCh37.p13 chr 8NC_000008.10:g.75267618A>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/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
1000GenomesAfricanSub1322A=0.681G=0.319
1000GenomesAmericanSub694A=0.650G=0.350
1000GenomesEast AsianSub1008A=0.579G=0.421
1000GenomesEuropeSub1006A=0.556G=0.444
1000GenomesGlobalStudy-wide5008A=0.587G=0.413
1000GenomesSouth AsianSub978A=0.460G=0.540
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.511G=0.489
The Genome Aggregation DatabaseAfricanSub8706A=0.669G=0.331
The Genome Aggregation DatabaseAmericanSub838A=0.620G=0.380
The Genome Aggregation DatabaseEast AsianSub1606A=0.606G=0.394
The Genome Aggregation DatabaseEuropeSub18440A=0.521G=0.478
The Genome Aggregation DatabaseGlobalStudy-wide29892A=0.572G=0.428
The Genome Aggregation DatabaseOtherSub302A=0.520G=0.480
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.581G=0.418
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.529G=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
rs92982380.000838nicotine dependence17158188

eQTL of rs9298238 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr8:75267618CTD-2320G14.2ENSG00000253596.1A>G2.4599e-35333Frontal_Cortex_BA9
Chr8:75267618CTD-2320G14.2ENSG00000253596.1A>G1.1349e-25333Cortex

meQTL of rs9298238 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 )
chr87526429975264349E067-3269
chr87526452075264604E067-3014
chr87526429975264349E068-3269
chr87526452075264604E068-3014
chr87526429975264349E069-3269
chr87523982275239939E070-27679
chr87524030975240904E070-26714
chr87526429975264349E072-3269
chr87526452075264604E072-3014
chr87526429975264349E073-3269
chr87526452075264604E073-3014
chr87522955575229723E081-37895
chr87526118975261249E081-6369
chr87526429975264349E081-3269
chr87526452075264604E081-3014
chr87526118975261249E082-6369
chr87526577775265834E082-1784
chr87526591475265985E082-1633
chr87527160575271645E0823987








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr87523156575231747E067-35871
chr87523183875232048E067-35570
chr87523225875234867E067-32751
chr87526204275262107E067-5511
chr87526216475263270E067-4348
chr87523088475231011E068-36607
chr87523123775231515E068-36103
chr87523156575231747E068-35871
chr87523183875232048E068-35570
chr87523225875234867E068-32751
chr87526155475261648E068-5970
chr87526187675261926E068-5692
chr87526204275262107E068-5511
chr87526216475263270E068-4348
chr87523183875232048E069-35570
chr87523225875234867E069-32751
chr87526187675261926E069-5692
chr87526204275262107E069-5511
chr87526216475263270E069-4348
chr87523183875232048E070-35570
chr87523225875234867E070-32751
chr87526155475261648E070-5970
chr87526187675261926E070-5692
chr87526204275262107E070-5511
chr87526216475263270E070-4348
chr87526204275262107E071-5511
chr87526216475263270E071-4348
chr87523183875232048E072-35570
chr87523225875234867E072-32751
chr87526155475261648E072-5970
chr87526187675261926E072-5692
chr87526204275262107E072-5511
chr87526216475263270E072-4348
chr87523225875234867E073-32751
chr87526187675261926E073-5692
chr87526204275262107E073-5511
chr87526216475263270E073-4348
chr87523225875234867E074-32751
chr87526216475263270E074-4348
chr87523225875234867E081-32751
chr87526187675261926E081-5692
chr87526204275262107E081-5511
chr87526216475263270E081-4348
chr87523088475231011E082-36607
chr87523123775231515E082-36103
chr87523156575231747E082-35871
chr87523183875232048E082-35570
chr87523225875234867E082-32751
chr87526155475261648E082-5970
chr87526187675261926E082-5692
chr87526204275262107E082-5511
chr87526216475263270E082-4348