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rs119477052

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs119477052(A;A)
Make rs119477052(A;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position77205394
GeneVPS13A
is asnp
is mentioned by
dbSNPrs119477052
ebirs119477052
HLIrs119477052
Exacrs119477052
Varsomers119477052
Maprs119477052
PheGenIrs119477052
hapmaprs119477052
1000 genomesrs119477052
hgdprs119477052
ensemblrs119477052
gopubmedrs119477052
geneviewrs119477052
scholarrs119477052
googlers119477052
pharmgkbrs119477052
gwascentralrs119477052
openSNPrs119477052
23andMers119477052
23andMe allrs119477052
SNP Nexus

SNPshotrs119477052
SNPdbers119477052
MSV3drs119477052
GWAS Ctlgrs119477052
Merged fromRs28939379
Max Magnitude0
OMIM605978
Desc
Variant0001
Relatedalso
ClinVar
Risk rs119477052(A,C;A,C)
Alt rs119477052(A,C;A,C)
Reference rs119477052(T;T)
Significance Pathogenic
Disease Choreoacanthocytosis
Variation info
Gene VPS13A
CLNDBN Choreoacanthocytosis
Reversed 0
HGVS NC_000009.11:g.79820310T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004946.2,