rs796065352

Orientation

minus

Stabilized

minus

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

Make rs796065352(G;T)

Make rs796065352(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

34637546

Gene

SIGMAR1

is a	snp
is	mentioned by
dbSNP	rs796065352
dbSNP (classic)	rs796065352
ClinGen	rs796065352
ebi	rs796065352
HLI	rs796065352
Exac	rs796065352
Gnomad	rs796065352
Varsome	rs796065352
LitVar	rs796065352
Map	rs796065352
PheGenI	rs796065352
Biobank	rs796065352
1000 genomes	rs796065352
hgdp	rs796065352
ensembl	rs796065352
geneview	rs796065352
scholar	rs796065352
google	rs796065352
pharmgkb	rs796065352
gwascentral	rs796065352
openSNP	rs796065352
23andMe	rs796065352
SNPshot	rs796065352
SNPdbe	rs796065352
MSV3d	rs796065352
GWAS Ctlg	rs796065352

Max Magnitude

0

ClinVar
Risk	rs796065352(T;T)
Alt	rs796065352(T;T)
Reference	Rs796065352(G;G)
Significance	Pathogenic
Disease	Distal spinal muscular atrophy
Variation	info
Gene	SIGMAR1
CLNDBN	Distal spinal muscular atrophy, autosomal recessive 2
Reversed	1
HGVS	NC_000009.11:g.34637543C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000190343.3,