rs119477053

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs119477053(C;T)

Make rs119477053(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

77213240

Gene

VPS13A

is a	snp
is	mentioned by
dbSNP	rs119477053
dbSNP (classic)	rs119477053
ClinGen	rs119477053
ebi	rs119477053
HLI	rs119477053
Exac	rs119477053
Gnomad	rs119477053
Varsome	rs119477053
LitVar	rs119477053
Map	rs119477053
PheGenI	rs119477053
Biobank	rs119477053
1000 genomes	rs119477053
hgdp	rs119477053
ensembl	rs119477053
geneview	rs119477053
scholar	rs119477053
google	rs119477053
pharmgkb	rs119477053
gwascentral	rs119477053
openSNP	rs119477053
23andMe	rs119477053
SNPshot	rs119477053
SNPdbe	rs119477053
MSV3d	rs119477053
GWAS Ctlg	rs119477053

Max Magnitude

0

OMIM	605978
Desc
Variant	0004
Related	also

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	RCV000004949.3,