rs2366915

Homo sapiens
C>T
KIAA1217 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0311 (9274/29802,GnomAD)
T=0339 (9881/29118,TOPMED)
T=0310 (1550/5008,1000G)
T=0263 (1013/3854,ALSPAC)
T=0255 (947/3708,TWINSUK)
chr10:24418740 (GRCh38.p7) (10p12.1)
AD
GWASdb2
1   publication(s)
See rs on genome
76 Enhancers around
7 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.24418740C>T
GRCh37.p13 chr 10NC_000010.10:g.24707669C>T

Gene: KIAA1217, KIAA1217(plus strand)

Molecule type Change Amino acid[Codon] SO Term
KIAA1217 transcript variant 2NM_001098500.2:c.N/AIntron Variant
KIAA1217 transcript variant 4NM_001282767.1:c.N/AIntron Variant
KIAA1217 transcript variant 5NM_001282768.1:c.N/AIntron Variant
KIAA1217 transcript variant 1NM_019590.4:c.N/AIntron Variant
KIAA1217 transcript variant 6NM_001282769.1:c.N/AGenic Upstream Transcript Variant
KIAA1217 transcript variant 7NM_001282770.1:c.N/AGenic Upstream Transcript Variant
KIAA1217 transcript variant 8NM_001321681.1:c.N/AGenic Upstream Transcript Variant
KIAA1217 transcript variant X1XM_011519552.2:c.N/AIntron Variant
KIAA1217 transcript variant X2XM_011519555.2:c.N/AIntron Variant
KIAA1217 transcript variant X3XM_011519558.2:c.N/AIntron Variant
KIAA1217 transcript variant X5XM_011519559.2:c.N/AIntron Variant
KIAA1217 transcript variant X18XM_011519562.2:c.N/AIntron Variant
KIAA1217 transcript variant X22XM_011519564.2:c.N/AIntron Variant
KIAA1217 transcript variant X20XM_011519565.2:c.N/AIntron Variant
KIAA1217 transcript variant X24XM_011519566.2:c.N/AIntron Variant
KIAA1217 transcript variant X4XM_017016416.1:c.N/AIntron Variant
KIAA1217 transcript variant X6XM_017016417.1:c.N/AIntron Variant
KIAA1217 transcript variant X7XM_017016418.1:c.N/AIntron Variant
KIAA1217 transcript variant X8XM_017016419.1:c.N/AIntron Variant
KIAA1217 transcript variant X12XM_017016420.1:c.N/AIntron Variant
KIAA1217 transcript variant X13XM_017016421.1:c.N/AIntron Variant
KIAA1217 transcript variant X14XM_017016422.1:c.N/AIntron Variant
KIAA1217 transcript variant X16XM_017016425.1:c.N/AIntron Variant
KIAA1217 transcript variant X17XM_017016426.1:c.N/AIntron Variant
KIAA1217 transcript variant X18XM_017016427.1:c.N/AIntron Variant
KIAA1217 transcript variant X22XM_017016428.1:c.N/AIntron Variant
KIAA1217 transcript variant X26XM_017016429.1:c.N/AIntron Variant
KIAA1217 transcript variant X14XM_005252516.3:c.N/AGenic Upstream Transcript Variant
KIAA1217 transcript variant X15XM_017016423.1:c.N/AGenic Upstream Transcript Variant
KIAA1217 transcript variant X16XM_017016424.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.513T=0.487
1000GenomesAmericanSub694C=0.720T=0.280
1000GenomesEast AsianSub1008C=0.736T=0.264
1000GenomesEuropeSub1006C=0.743T=0.257
1000GenomesGlobalStudy-wide5008C=0.690T=0.310
1000GenomesSouth AsianSub978C=0.810T=0.190
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.737T=0.263
The Genome Aggregation DatabaseAfricanSub8674C=0.568T=0.432
The Genome Aggregation DatabaseAmericanSub834C=0.710T=0.290
The Genome Aggregation DatabaseEast AsianSub1604C=0.748T=0.252
The Genome Aggregation DatabaseEuropeSub18388C=0.737T=0.262
The Genome Aggregation DatabaseGlobalStudy-wide29802C=0.688T=0.311
The Genome Aggregation DatabaseOtherSub302C=0.820T=0.180
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.660T=0.339
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.745T=0.255
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs23669150.000966alcohol dependence24277619

eQTL of rs2366915 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 rs2366915 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 )
chr102466275824662869E067-44800
chr102466313824663432E067-44237
chr102466252424662645E068-45024
chr102466275824662869E068-44800
chr102470442124705121E069-2548
chr102470515424705260E069-2409
chr102466722624667332E070-40337
chr102466749824667791E070-39878
chr102466788524667960E070-39709
chr102466818924668264E070-39405
chr102467201624673128E070-34541
chr102467315024673224E070-34445
chr102467326024673333E070-34336
chr102467333424673378E070-34291
chr102467388024673937E070-33732
chr102470442124705121E070-2548
chr102470559924705910E070-1759
chr102474003324740702E07032364
chr102474075024740820E07033081
chr102474105524741105E07033386
chr102474194224742148E07034273
chr102474220224742333E07034533
chr102474233424742667E07034665
chr102474333824743378E07035669
chr102474348224744223E07035813
chr102474488724744937E07037218
chr102474499424745172E07037325
chr102474522224745623E07037553
chr102474578624745898E07038117
chr102474608324746140E07038414
chr102474623324746345E07038564
chr102466252424662645E071-45024
chr102466275824662869E071-44800
chr102467201624673128E071-34541
chr102466275824662869E072-44800
chr102466313824663432E072-44237
chr102470442124705121E072-2548
chr102467100124671106E073-36563
chr102467111824671206E073-36463
chr102467201624673128E073-34541
chr102470442124705121E073-2548
chr102470515424705260E073-2409
chr102470528724705466E073-2203
chr102470559924705910E073-1759
chr102470596224706048E073-1621
chr102474426324744742E07336594
chr102474488724744937E07337218
chr102474499424745172E07337325
chr102474522224745623E07337553
chr102470596224706048E074-1621
chr102470606724706265E074-1404
chr102470626824706365E074-1304
chr102467201624673128E081-34541
chr102472932524729477E08121656
chr102472956724729617E08121898
chr102474003324740702E08132364
chr102474075024740820E08133081
chr102474348224744223E08135813
chr102474426324744742E08136594
chr102474488724744937E08137218
chr102474499424745172E08137325
chr102474522224745623E08137553
chr102474578624745898E08138117
chr102474608324746140E08138414
chr102474623324746345E08138564
chr102474642524747290E08138756
chr102467201624673128E082-34541
chr102471632624717123E0828657
chr102474194224742148E08234273
chr102474220224742333E08234533
chr102474233424742667E08234665
chr102474333824743378E08235669
chr102474348224744223E08235813
chr102474426324744742E08236594
chr102474488724744937E08237218
chr102474499424745172E08237325










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr102473954524739607E07231876
chr102473963224739828E07231963
chr102473991124739997E07232242
chr102473799124738779E07330322
chr102473954524739607E07331876
chr102473963224739828E07331963
chr102473991124739997E07332242