Rs104893933

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Orientationminus
Make rs104893933(A;A)
Make rs104893933(A;T)
Make rs104893933(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position70238257
GeneSMN1
is asnp
is mentioned by
dbSNPrs104893933
Exacrs104893933
PheGenIrs104893933
nextbiors104893933
hapmaprs104893933
1000 genomesrs104893933
hgdprs104893933
ensemblrs104893933
gopubmedrs104893933
geneviewrs104893933
scholarrs104893933
googlers104893933
pharmgkbrs104893933
gwascentralrs104893933
openSNPrs104893933
23andMers104893933
23andMe allrs104893933
SNP Nexus

SNPshotrs104893933
SNPdbers104893933
MSV3drs104893933
OMIM600354
Desc
Variant0017
Relatedalso
ClinVar
Risk rs104893933(T;T)
Alt rs104893933(T;T)
Reference rs104893933(A;A)
Significance Pathogenic
Disease Werdnig-Hoffmann disease
Variation info
Gene SMN1
CLNDBN Werdnig-Hoffmann disease
Reversed 0
HGVS NC_000005.9:g.70238257A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009757.2,