rs4748908

Homo sapiens
A>G
KIAA1217 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0057 (1717/29996,GnomAD)
G=0087 (2554/29118,TOPMED)
G=0069 (347/5008,1000G)
G=0010 (40/3854,ALSPAC)
G=0009 (33/3708,TWINSUK)
chr10:23725193 (GRCh38.p7) (10p12.2)
AD
GWASdb2
1   publication(s)
See rs on genome
4 Enhancers around
25 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.23725193A>G
GRCh37.p13 chr 10NC_000010.10:g.24014122A>G

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/AGenic Upstream Transcript Variant
KIAA1217 transcript variant 5NM_001282768.1:c.N/AGenic Upstream Transcript 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 1NM_019590.4:c.N/AGenic Upstream Transcript 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 X1XM_011519552.2:c.N/AGenic Upstream Transcript Variant
KIAA1217 transcript variant X2XM_011519555.2:c.N/AGenic Upstream Transcript Variant
KIAA1217 transcript variant X3XM_011519558.2:c.N/AGenic Upstream Transcript Variant
KIAA1217 transcript variant X5XM_011519559.2:c.N/AGenic Upstream Transcript Variant
KIAA1217 transcript variant X18XM_011519562.2:c.N/AGenic Upstream Transcript Variant
KIAA1217 transcript variant X22XM_011519564.2:c.N/AGenic Upstream Transcript Variant
KIAA1217 transcript variant X20XM_011519565.2:c.N/AGenic Upstream Transcript Variant
KIAA1217 transcript variant X24XM_011519566.2:c.N/AGenic Upstream Transcript Variant
KIAA1217 transcript variant X4XM_017016416.1:c.N/AGenic Upstream Transcript Variant
KIAA1217 transcript variant X6XM_017016417.1:c.N/AGenic Upstream Transcript Variant
KIAA1217 transcript variant X7XM_017016418.1:c.N/AGenic Upstream Transcript Variant
KIAA1217 transcript variant X8XM_017016419.1:c.N/AGenic Upstream Transcript Variant
KIAA1217 transcript variant X12XM_017016420.1:c.N/AGenic Upstream Transcript Variant
KIAA1217 transcript variant X13XM_017016421.1:c.N/AGenic Upstream Transcript Variant
KIAA1217 transcript variant X14XM_017016422.1: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
KIAA1217 transcript variant X16XM_017016425.1:c.N/AGenic Upstream Transcript Variant
KIAA1217 transcript variant X17XM_017016426.1:c.N/AGenic Upstream Transcript Variant
KIAA1217 transcript variant X18XM_017016427.1:c.N/AGenic Upstream Transcript Variant
KIAA1217 transcript variant X22XM_017016428.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.821G=0.179
1000GenomesAmericanSub694A=0.960G=0.040
1000GenomesEast AsianSub1008A=0.985G=0.015
1000GenomesEuropeSub1006A=0.986G=0.014
1000GenomesGlobalStudy-wide5008A=0.931G=0.069
1000GenomesSouth AsianSub978A=0.940G=0.060
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.990G=0.010
The Genome Aggregation DatabaseAfricanSub8728A=0.827G=0.173
The Genome Aggregation DatabaseAmericanSub836A=0.970G=0.030
The Genome Aggregation DatabaseEast AsianSub1620A=0.987G=0.013
The Genome Aggregation DatabaseEuropeSub18510A=0.991G=0.008
The Genome Aggregation DatabaseGlobalStudy-wide29996A=0.942G=0.057
The Genome Aggregation DatabaseOtherSub302A=0.990G=0.010
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.912G=0.087
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.991G=0.009
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
rs47489080.000663alcohol dependence21314694

eQTL of rs4748908 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 rs4748908 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 )
chr102399188223992300E067-21822
chr102400783124008246E069-5876
chr102399188223992300E071-21822
chr102399188223992300E072-21822




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr102398238623984302E067-29820
chr102398472923984779E067-29343
chr102398490123985089E067-29033
chr102398512123985261E067-28861
chr102398238623984302E068-29820
chr102398446523984549E068-29573
chr102398472923984779E068-29343
chr102398490123985089E068-29033
chr102398238623984302E069-29820
chr102398472923984779E069-29343
chr102398490123985089E069-29033
chr102398512123985261E069-28861
chr102398238623984302E072-29820
chr102398446523984549E072-29573
chr102398472923984779E072-29343
chr102398490123985089E072-29033
chr102398512123985261E072-28861
chr102398238623984302E073-29820
chr102398446523984549E073-29573
chr102398472923984779E073-29343
chr102398490123985089E073-29033
chr102398512123985261E073-28861
chr102398472923984779E082-29343
chr102398490123985089E082-29033
chr102398512123985261E082-28861