rs1057519454

Orientation

plus

Stabilized

plus

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

Make rs1057519454(C;T)

Make rs1057519454(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

136410732

Gene	PMPCA, SDCCAG3

is a	snp
is	mentioned by
dbSNP	rs1057519454
dbSNP (classic)	rs1057519454
ClinGen	rs1057519454
ebi	rs1057519454
HLI	rs1057519454
Exac	rs1057519454
Gnomad	rs1057519454
Varsome	rs1057519454
LitVar	rs1057519454
Map	rs1057519454
PheGenI	rs1057519454
Biobank	rs1057519454
1000 genomes	rs1057519454
hgdp	rs1057519454
ensembl	rs1057519454
geneview	rs1057519454
scholar	rs1057519454
google	rs1057519454
pharmgkb	rs1057519454
gwascentral	rs1057519454
openSNP	rs1057519454
23andMe	rs1057519454
SNPshot	rs1057519454
SNPdbe	rs1057519454
MSV3d	rs1057519454
GWAS Ctlg	rs1057519454

Max Magnitude

0

ClinVar
Risk	rs1057519454(T;T)
Alt	rs1057519454(T;T)
Reference	Rs1057519454(C;C)
Significance	Pathogenic
Disease	Spinocerebellar ataxia
Variation	info
Gene	PMPCA SDCCAG3
CLNDBN	Spinocerebellar ataxia, autosomal recessive 2
Reversed	0
HGVS	NC_000009.11:g.139305184C>T
CLNSRC
CLNACC	RCV000416418.1,