Rs104893922

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Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104893922(A;G)
Make rs104893922(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position70241984
GeneSMN1
is asnp
is mentioned by
dbSNPrs104893922
PheGenIrs104893922
nextbiors104893922
hapmaprs104893922
1000 genomesrs104893922
hgdprs104893922
ensemblrs104893922
gopubmedrs104893922
geneviewrs104893922
scholarrs104893922
googlers104893922
pharmgkbrs104893922
gwascentralrs104893922
openSNPrs104893922
23andMers104893922
23andMe allrs104893922
SNP Nexus

SNPshotrs104893922
SNPdbers104893922
MSV3drs104893922
Max Magnitude0
OMIM600354
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104893922(G;G)
Alt rs104893922(G;G)
Reference rs104893922(A;A)
Significance Pathogenic
Disease Werdnig-Hoffmann disease
Variation info
Gene SMN1
CLNDBN Werdnig-Hoffmann disease
Reversed 0
HGVS NC_000005.9:g.70241984A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009737.1,