Rs104893935

Orientation

plus

is a	snp
is	mentioned by
dbSNP	rs104893935
PheGenI	rs104893935
nextbio	rs104893935
hapmap	rs104893935
1000 genomes	rs104893935
hgdp	rs104893935
ensembl	rs104893935
gopubmed	rs104893935
geneview	rs104893935
scholar	rs104893935
google	rs104893935
pharmgkb	rs104893935
gwascentral	rs104893935
openSNP	rs104893935
23andMe	rs104893935
23andMe all	rs104893935
SNP Nexus
SNPshot	rs104893935
SNPdbe	rs104893935
MSV3d	rs104893935

Gene

SMN1

Chromosome

5

Orientation

plus

Position

70238243

Reference

GRCh37 37.1/132

Max Magnitude

0

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

Make rs104893935(C;G)

Make rs104893935(G;G)

OMIM	600354
Desc
Variant	0015
Related	also

ClinVar
Risk	rs104893935(G;G)
Normal	rs104893935(C;C)
Significance	5
Disease	Werdnig-Hoffmann disease, Spinal muscular atrophy
ClinVar	info
Gene	SMN1
CLNDBN	Werdnig-Hoffmann disease, Spinal muscular atrophy, type II
Reversed	0
CLNHGVS	NC_000005.9:g.70238243C>G
CLNSRC	OMIM Allelic Variant