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rs75030631

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3 carrier of a spinal muscular atrophy disease allele
Make rs75030631(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position70220935
GeneSMN1
is asnp
is mentioned by
dbSNPrs75030631
ebirs75030631
HLIrs75030631
Exacrs75030631
Varsomers75030631
Maprs75030631
PheGenIrs75030631
hapmaprs75030631
1000 genomesrs75030631
hgdprs75030631
ensemblrs75030631
gopubmedrs75030631
geneviewrs75030631
scholarrs75030631
googlers75030631
pharmgkbrs75030631
gwascentralrs75030631
openSNPrs75030631
23andMers75030631
23andMe allrs75030631
SNP Nexus

SNPshotrs75030631
SNPdbers75030631
MSV3drs75030631
GWAS Ctlgrs75030631
Merged fromRs104893928
Max Magnitude3
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
CLNACC RCV000009739.2, RCV000009740.2,