rs121909192

Orientation

plus

Stabilized

plus

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

Make rs121909192(C;C)

Make rs121909192(C;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

70076545

Gene

SMN2

is a	snp
is	mentioned by
dbSNP	rs121909192
dbSNP (classic)	rs121909192
ClinGen	rs121909192
ebi	rs121909192
HLI	rs121909192
Exac	rs121909192
Gnomad	rs121909192
Varsome	rs121909192
LitVar	rs121909192
Map	rs121909192
PheGenI	rs121909192
Biobank	rs121909192
1000 genomes	rs121909192
hgdp	rs121909192
ensembl	rs121909192
geneview	rs121909192
scholar	rs121909192
google	rs121909192
pharmgkb	rs121909192
gwascentral	rs121909192
openSNP	rs121909192
23andMe	rs121909192
SNPshot	rs121909192
SNPdbe	rs121909192
MSV3d	rs121909192
GWAS Ctlg	rs121909192

Max Magnitude

0

OMIM	601627
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121909192(C;C)
Alt	rs121909192(C;C)
Reference	Rs121909192(G;G)
Significance	Other
Disease	Spinal muscular atrophy Kugelberg-Welander disease
Variation	info
Gene	SMN2
CLNDBN	Spinal muscular atrophy, modifier of Kugelberg-Welander disease
Reversed	0
HGVS	NC_000005.9:g.69372372G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008426.4, RCV000487481.1,