Rs104893934

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Orientationminus
Make rs104893934(C;C)
Make rs104893934(C;G)
Make rs104893934(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position70238317
GeneSMN1
is asnp
is mentioned by
dbSNPrs104893934
PheGenIrs104893934
nextbiors104893934
hapmaprs104893934
1000 genomesrs104893934
hgdprs104893934
ensemblrs104893934
gopubmedrs104893934
geneviewrs104893934
scholarrs104893934
googlers104893934
pharmgkbrs104893934
gwascentralrs104893934
openSNPrs104893934
23andMers104893934
23andMe allrs104893934
SNP Nexus

SNPshotrs104893934
SNPdbers104893934
MSV3drs104893934
Max Magnitude
OMIM600354
Desc
Variant0018
Relatedalso
ClinVar
Risk rs104893934(G;G)
Alt rs104893934(G;G)
Reference rs104893934(C;C)
Significance Pathogenic
Disease Werdnig-Hoffmann disease
Variation info
Gene SMN1
CLNDBN Werdnig-Hoffmann disease
Reversed 0
HGVS NC_000005.9:g.70238317C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009758.1,