rs7819969

Homo sapiens
C>A / C>G
GDAP1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0476 (13969/29302,GnomAD)
A=0487 (2438/5008,1000G)
chr8:74404008 (GRCh38.p7) (8q21.11)
ND
GWASdb2
1   publication(s)
See rs on genome
89 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.74404008C>A
GRCh38.p7 chr 8NC_000008.11:g.74404008C>G
GRCh37.p13 chr 8NC_000008.10:g.75316243C>A
GRCh37.p13 chr 8NC_000008.10:g.75316243C>G
GDAP1 RefSeqGene LRG_244
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=0.650A=0.350
1000GenomesAmericanSub694C=0.410A=0.590
1000GenomesEast AsianSub1008C=0.421A=0.579
1000GenomesEuropeSub1006C=0.457A=0.543
1000GenomesGlobalStudy-wide5008C=0.513A=0.487
1000GenomesSouth AsianSub978C=0.550A=0.450
The Genome Aggregation DatabaseAfricanSub8106C=0.640A=0.360
The Genome Aggregation DatabaseAmericanSub838C=0.390A=0.610
The Genome Aggregation DatabaseEast AsianSub1612C=0.391A=0.609
The Genome Aggregation DatabaseEuropeSub18444C=0.489A=0.510
The Genome Aggregation DatabaseGlobalStudy-wide29302C=0.523A=0.476
The Genome Aggregation DatabaseOtherSub302C=0.490A=0.510
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
rs78199690.000915nicotine dependence17158188

eQTL of rs7819969 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr8:75316243CTD-2320G14.2ENSG00000253596.1C>A2.4599e-353958Frontal_Cortex_BA9

meQTL of rs7819969 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 )
chr82521742925217607E067-41263
chr82521767825217728E067-41142
chr82522688525227182E067-31688
chr82522720425227288E067-31582
chr82522732725227465E067-31405
chr82524933825249402E067-9468
chr82524998525250822E067-8048
chr82525136425251475E067-7395
chr82525156125251611E067-7259
chr82522688525227182E068-31688
chr82522720425227288E068-31582
chr82522732725227465E068-31405
chr82522758325228023E068-30847
chr82524998525250822E068-8048
chr82525136425251475E068-7395
chr82525156125251611E068-7259
chr82521725625217324E069-41546
chr82521742925217607E069-41263
chr82521767825217728E069-41142
chr82521787425217962E069-40908
chr82522688525227182E069-31688
chr82522720425227288E069-31582
chr82522732725227465E069-31405
chr82524933825249402E069-9468
chr82524998525250822E069-8048
chr82525136425251475E069-7395
chr82525156125251611E069-7259
chr82525194625252033E069-6837
chr82525207825252203E069-6667
chr82525263325252700E069-6170
chr82525275625252808E069-6062
chr82525318625253230E069-5640
chr82521699725217187E071-41683
chr82521725625217324E071-41546
chr82521742925217607E071-41263
chr82521767825217728E071-41142
chr82521787425217962E071-40908
chr82522688525227182E071-31688
chr82522720425227288E071-31582
chr82522732725227465E071-31405
chr82522758325228023E071-30847
chr82524933825249402E071-9468
chr82524998525250822E071-8048
chr82525136425251475E071-7395
chr82525156125251611E071-7259
chr82525194625252033E071-6837
chr82525207825252203E071-6667
chr82525263325252700E071-6170
chr82521664625216901E072-41969
chr82521699725217187E072-41683
chr82521725625217324E072-41546
chr82521742925217607E072-41263
chr82521767825217728E072-41142
chr82521787425217962E072-40908
chr82522720425227288E072-31582
chr82522732725227465E072-31405
chr82522758325228023E072-30847
chr82524933825249402E072-9468
chr82524998525250822E072-8048
chr82525136425251475E072-7395
chr82525156125251611E072-7259
chr82525194625252033E072-6837
chr82525207825252203E072-6667
chr82521742925217607E073-41263
chr82521767825217728E073-41142
chr82521787425217962E073-40908
chr82524933825249402E073-9468
chr82524998525250822E073-8048
chr82525136425251475E073-7395
chr82525156125251611E073-7259
chr82521645925216514E074-42356
chr82521664625216901E074-41969
chr82521699725217187E074-41683
chr82521725625217324E074-41546
chr82521742925217607E074-41263
chr82521767825217728E074-41142
chr82521787425217962E074-40908
chr82522388625224210E074-34660
chr82522688525227182E074-31688
chr82522720425227288E074-31582
chr82522732725227465E074-31405
chr82522758325228023E074-30847
chr82523804225238230E074-20640
chr82524933825249402E074-9468
chr82524998525250822E074-8048
chr82525136425251475E074-7395
chr82525156125251611E074-7259
chr82525194625252033E074-6837
chr82525207825252203E074-6667