rs9319629

Homo sapiens
G>A
RPH3AL : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0030 (906/29828,GnomAD)
A=0047 (1379/29118,TOPMED)
A=0033 (165/5008,1000G)
A=0002 (8/3854,ALSPAC)
A=0000 (1/3708,TWINSUK)
chr17:373191 (GRCh38.p7) (17p13.3)
AD
GWASdb2
1   publication(s)
See rs on genome
3 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.373191G>A
GRCh37.p13 chr 17 fix patch HG417_PATCHNW_004070872.2:g.313189G>A
GRCh38.p7 chr 17 alt locus HSCHR17_1_CTG1NW_003315952.3:g.346245G>A
GRCh37.p13 chr 17NC_000017.10:g.222982G>A
GRCh38.p7 chr 17 alt locus HSCHR17_2_CTG1NT_187662.1:g.29447C>T

Gene: RPH3AL, rabphilin 3A-like (without C2 domains)(minus strand)

Molecule type Change Amino acid[Codon] SO Term
RPH3AL transcript variant 2NM_001190411.1:c.N/AGenic Upstream Transcript Variant
RPH3AL transcript variant 3NM_001190412.1:c.N/AGenic Upstream Transcript Variant
RPH3AL transcript variant 4NM_001190413.1:c.N/AGenic Upstream Transcript Variant
RPH3AL transcript variant 1NM_006987.3:c.N/AGenic Upstream Transcript Variant
RPH3AL transcript variant X3XM_011535366.2:c.N/AIntron Variant
RPH3AL transcript variant X4XM_011535367.2:c.N/AIntron Variant
RPH3AL transcript variant X1XM_011535364.2:c.N/AGenic Upstream Transcript Variant
RPH3AL transcript variant X2XM_011535365.2:c.N/AGenic Upstream Transcript Variant
RPH3AL transcript variant X5XM_011535368.2:c.N/AGenic Upstream Transcript Variant
RPH3AL transcript variant X8XM_011535369.2:c.N/AGenic Upstream Transcript Variant
RPH3AL transcript variant X6XM_017025367.1:c.N/AGenic Upstream Transcript Variant
RPH3AL transcript variant X7XM_017025368.1:c.N/AGenic Upstream Transcript Variant
RPH3AL transcript variant X9XM_017025369.1:c.N/AGenic Upstream Transcript Variant
RPH3AL transcript variant X10XM_017025370.1:c.N/AGenic Upstream Transcript Variant
RPH3AL transcript variant X13XM_017025371.1:c.N/AGenic Upstream Transcript Variant
RPH3AL transcript variant X11XR_001752693.1:n.N/AGenic Upstream Transcript Variant
RPH3AL transcript variant X12XR_001752694.1:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.898A=0.102
1000GenomesAmericanSub694G=0.990A=0.010
1000GenomesEast AsianSub1008G=0.997A=0.003
1000GenomesEuropeSub1006G=0.999A=0.001
1000GenomesGlobalStudy-wide5008G=0.967A=0.033
1000GenomesSouth AsianSub978G=0.980A=0.020
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.998A=0.002
The Genome Aggregation DatabaseAfricanSub8678G=0.901A=0.099
The Genome Aggregation DatabaseAmericanSub838G=1.000A=0.000
The Genome Aggregation DatabaseEast AsianSub1620G=1.000A=0.000
The Genome Aggregation DatabaseEuropeSub18392G=0.997A=0.002
The Genome Aggregation DatabaseGlobalStudy-wide29828G=0.969A=0.030
The Genome Aggregation DatabaseOtherSub300G=1.000A=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.952A=0.047
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=1.000A=0.000
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
rs93196290.00088alcohol dependence21314694

eQTL of rs9319629 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 rs9319629 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 )
chr17277534277610E070-35579
chr17277649277834E070-35355
chr17272060272344E081-40845