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rs119477053

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119477053(C;T)
Make rs119477053(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position77213240
GeneVPS13A
is asnp
is mentioned by
dbSNPrs119477053
ebirs119477053
HLIrs119477053
Exacrs119477053
Varsomers119477053
Maprs119477053
PheGenIrs119477053
hapmaprs119477053
1000 genomesrs119477053
hgdprs119477053
ensemblrs119477053
gopubmedrs119477053
geneviewrs119477053
scholarrs119477053
googlers119477053
pharmgkbrs119477053
gwascentralrs119477053
openSNPrs119477053
23andMers119477053
23andMe allrs119477053
SNP Nexus

SNPshotrs119477053
SNPdbers119477053
MSV3drs119477053
GWAS Ctlgrs119477053
Max Magnitude0
OMIM605978
Desc
Variant0004
Relatedalso
ClinVar
Risk rs119477053(T;T)
Alt rs119477053(T;T)
Reference rs119477053(C;C)
Significance Pathogenic
Disease Choreoacanthocytosis
Variation info
Gene VPS13A
CLNDBN Choreoacanthocytosis
Reversed 0
HGVS NC_000009.11:g.79828156C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004949.2,