rs75030631

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	3	carrier of a spinal muscular atrophy disease allele

Make rs75030631(G;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

70925108

Gene

SMN1

is a	snp
is	mentioned by
dbSNP	rs75030631
dbSNP (classic)	rs75030631
ClinGen	rs75030631
ebi	rs75030631
HLI	rs75030631
Exac	rs75030631
Gnomad	rs75030631
Varsome	rs75030631
LitVar	rs75030631
Map	rs75030631
PheGenI	rs75030631
Biobank	rs75030631
1000 genomes	rs75030631
hgdp	rs75030631
ensembl	rs75030631
geneview	rs75030631
scholar	rs75030631
google	rs75030631
pharmgkb	rs75030631
gwascentral	rs75030631
openSNP	rs75030631
23andMe	rs75030631
SNPshot	rs75030631
SNPdbe	rs75030631
MSV3d	rs75030631
GWAS Ctlg	rs75030631

Merged from

Rs104893928

Max Magnitude

3

ClinVar
Risk	rs75030631(G;G)
Alt	rs75030631(G;G)
Reference	Rs75030631(C;C)
Significance	Pathogenic
Disease	Spinal muscular atrophy Kugelberg-Welander disease
Variation	info
Gene	SMN1
CLNDBN	Spinal muscular atrophy, type II Kugelberg-Welander disease
Reversed	0
HGVS	NC_000005.9:g.70220935C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009739.2, RCV000009740.2,