rs397514517

Orientation

plus

Stabilized

plus

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

Make rs397514517(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

70942473

Gene

SMN1

is a	snp
is	mentioned by
dbSNP	rs397514517
dbSNP (classic)	rs397514517
ClinGen	rs397514517
ebi	rs397514517
HLI	rs397514517
Exac	rs397514517
Gnomad	rs397514517
Varsome	rs397514517
LitVar	rs397514517
Map	rs397514517
PheGenI	rs397514517
Biobank	rs397514517
1000 genomes	rs397514517
hgdp	rs397514517
ensembl	rs397514517
geneview	rs397514517
scholar	rs397514517
google	rs397514517
pharmgkb	rs397514517
gwascentral	rs397514517
openSNP	rs397514517
23andMe	rs397514517
SNPshot	rs397514517
SNPdbe	rs397514517
MSV3d	rs397514517
GWAS Ctlg	rs397514517

Max Magnitude

3

ClinVar
Risk	rs397514517(G;G)
Alt	rs397514517(G;G)
Reference	Rs397514517(A;A)
Significance	Pathogenic
Disease	Kugelberg-Welander disease
Variation	info
Gene	SMN1
CLNDBN	Kugelberg-Welander disease
Reversed	0
HGVS	NC_000005.9:g.70238300A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032708.3,