rs6996493

Homo sapiens
A>G
XPO7 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0201 (6040/29936,GnomAD)
G=0251 (7332/29118,TOPMED)
G=0234 (1173/5008,1000G)
G=0127 (490/3854,ALSPAC)
G=0129 (478/3708,TWINSUK)
chr8:21936097 (GRCh38.p7) (8p21.3)
AD
GWASdb2
1   publication(s)
See rs on genome
155 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.21936097A>G
GRCh37.p13 chr 8NC_000008.10:g.21793608A>G

Gene: XPO7, exportin 7(plus strand)

Molecule type Change Amino acid[Codon] SO Term
XPO7 transcript variant 2NM_015024.4:c.N/AIntron Variant
XPO7 transcript variant X2XM_017013245.1:c.N/AIntron Variant
XPO7 transcript variant X1XM_017013244.1:c.N/AGenic Upstream Transcript Variant
XPO7 transcript variant X3XM_017013246.1:c.N/AGenic Upstream Transcript Variant
XPO7 transcript variant X4XM_017013247.1:c.N/AGenic Upstream Transcript Variant
XPO7 transcript variant X8XR_001745502.1:n.N/AIntron Variant
XPO7 transcript variant X5XR_001745500.1:n.N/AGenic Upstream Transcript Variant
XPO7 transcript variant X6XR_001745501.1:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.556G=0.444
1000GenomesAmericanSub694A=0.830G=0.170
1000GenomesEast AsianSub1008A=0.935G=0.065
1000GenomesEuropeSub1006A=0.837G=0.163
1000GenomesGlobalStudy-wide5008A=0.766G=0.234
1000GenomesSouth AsianSub978A=0.760G=0.240
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.873G=0.127
The Genome Aggregation DatabaseAfricanSub8708A=0.608G=0.392
The Genome Aggregation DatabaseAmericanSub838A=0.850G=0.150
The Genome Aggregation DatabaseEast AsianSub1618A=0.899G=0.101
The Genome Aggregation DatabaseEuropeSub18470A=0.874G=0.125
The Genome Aggregation DatabaseGlobalStudy-wide29936A=0.798G=0.201
The Genome Aggregation DatabaseOtherSub302A=0.920G=0.080
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.748G=0.251
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.871G=0.129
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs69964930.000716alcohol dependence21314694

eQTL of rs6996493 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr8:21793608NPM2ENSG00000158806.9A>G1.8547e-7-88028Cerebellum

meQTL of rs6996493 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 )
chr82175015321750239E067-43369
chr82175026821750328E067-43280
chr82175074821751050E067-42558
chr82175107521751132E067-42476
chr82177553821775605E067-18003
chr82177885121779061E067-14547
chr82177909221779241E067-14367
chr82177931521780096E067-13512
chr82180943521809633E06715827
chr82181029721810347E06716689
chr82181074121810795E06717133
chr82181368021814024E06720072
chr82181735421818094E06723746
chr82182244121822534E06728833
chr82182300321823170E06729395
chr82176617521766339E068-27269
chr82176640921767000E068-26608
chr82177885121779061E068-14547
chr82177909221779241E068-14367
chr82177931521780096E068-13512
chr82178028821780569E068-13039
chr82178071721780785E068-12823
chr82178121521781323E068-12285
chr82178139221781442E068-12166
chr82180943521809633E06815827
chr82181029721810347E06816689
chr82181074121810795E06817133
chr82181735421818094E06823746
chr82181813521818256E06824527
chr82182208121822125E06828473
chr82182292821822988E06829320
chr82182300321823170E06829395
chr82182318921823233E06829581
chr82182327721823327E06829669
chr82182337321823536E06829765
chr82182357421823706E06829966
chr82182371321823791E06830105
chr82175015321750239E069-43369
chr82175026821750328E069-43280
chr82176399321764161E069-29447
chr82177553821775605E069-18003
chr82177885121779061E069-14547
chr82177909221779241E069-14367
chr82177931521780096E069-13512
chr82178028821780569E069-13039
chr82178226921782437E069-11171
chr82178253421782782E069-10826
chr82178316221783212E069-10396
chr82180943521809633E06915827
chr82181029721810347E06916689
chr82181074121810795E06917133
chr82181368021814024E06920072
chr82174987321749948E070-43660
chr82175015321750239E070-43369
chr82175026821750328E070-43280
chr82175074821751050E070-42558
chr82175107521751132E070-42476
chr82175897921759339E070-34269
chr82175953921759579E070-34029
chr82178028821780569E070-13039
chr82178071721780785E070-12823
chr82178121521781323E070-12285
chr82178139221781442E070-12166
chr82178153421781576E070-12032
chr82178162121781671E070-11937
chr82175015321750239E071-43369
chr82175026821750328E071-43280
chr82175074821751050E071-42558
chr82175107521751132E071-42476
chr82176312221763972E071-29636
chr82176703721767364E071-26244
chr82177885121779061E071-14547
chr82177909221779241E071-14367
chr82177931521780096E071-13512
chr82178028821780569E071-13039
chr82178071721780785E071-12823
chr82178121521781323E071-12285
chr82178139221781442E071-12166
chr82178153421781576E071-12032
chr82178162121781671E071-11937
chr82180943521809633E07115827
chr82181029721810347E07116689
chr82181074121810795E07117133
chr82181368021814024E07120072
chr82182337321823536E07129765
chr82182357421823706E07129966
chr82182371321823791E07130105
chr82182380721823908E07130199
chr82182393221824021E07130324
chr82182409321824153E07130485
chr82182416821824577E07130560
chr82177885121779061E072-14547
chr82177909221779241E072-14367
chr82177931521780096E072-13512
chr82178121521781323E072-12285
chr82178139221781442E072-12166
chr82178153421781576E072-12032
chr82179213421792314E072-1294
chr82179232621792817E072-791
chr82180943521809633E07215827
chr82181029721810347E07216689
chr82181074121810795E07217133
chr82181368021814024E07220072
chr82182337321823536E07229765
chr82182357421823706E07229966
chr82182371321823791E07230105
chr82182380721823908E07230199
chr82175074821751050E073-42558
chr82175107521751132E073-42476
chr82176399321764161E073-29447
chr82177885121779061E073-14547
chr82175015321750239E074-43369
chr82175026821750328E074-43280
chr82177885121779061E074-14547
chr82177909221779241E074-14367
chr82177931521780096E074-13512
chr82178121521781323E074-12285
chr82178139221781442E074-12166
chr82178153421781576E074-12032
chr82180943521809633E07415827
chr82181368021814024E07420072
chr82181735421818094E07423746
chr82181813521818256E07424527
chr82182224021822440E07428632
chr82182244121822534E07428833
chr82175074821751050E081-42558
chr82175107521751132E081-42476
chr82177931521780096E081-13512
chr82178028821780569E081-13039
chr82178071721780785E081-12823
chr82178202921782083E081-11525
chr82178214121782191E081-11417
chr82179598421796097E0812376
chr82179631821796481E0812710
chr82180713921807189E08113531
chr82180728521807325E08113677
chr82181029721810347E08116689
chr82181074121810795E08117133
chr82181087721811209E08117269
chr82175074821751050E082-42558
chr82175107521751132E082-42476
chr82178028821780569E082-13039
chr82178071721780785E082-12823
chr82178121521781323E082-12285
chr82178139221781442E082-12166
chr82178153421781576E082-12032
chr82180569721805817E08212089
chr82180586621805916E08212258
chr82180611221806174E08212504
chr82180621521806454E08212607
chr82180647021806573E08212862
chr82180658821806906E08212980
chr82180943521809633E08215827
chr82181029721810347E08216689
chr82181074121810795E08217133










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr82177569421778618E067-14990
chr82177569421778618E068-14990
chr82177569421778618E069-14990
chr82177569421778618E070-14990
chr82177569421778618E071-14990
chr82177569421778618E072-14990
chr82177569421778618E073-14990
chr82177569421778618E074-14990
chr82177569421778618E081-14990
chr82177569421778618E082-14990