Rs104893935

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Orientationminus
Make rs104893935(C;C)
Make rs104893935(C;G)
Make rs104893935(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position70238243
GeneSMN1
is asnp
is mentioned by
dbSNPrs104893935
Exacrs104893935
PheGenIrs104893935
nextbiors104893935
hapmaprs104893935
1000 genomesrs104893935
hgdprs104893935
ensemblrs104893935
gopubmedrs104893935
geneviewrs104893935
scholarrs104893935
googlers104893935
pharmgkbrs104893935
gwascentralrs104893935
openSNPrs104893935
23andMers104893935
23andMe allrs104893935
SNP Nexus

SNPshotrs104893935
SNPdbers104893935
MSV3drs104893935
Max Magnitude
OMIM600354
Desc
Variant0015
Relatedalso
ClinVar
Risk rs104893935(G;G)
Alt rs104893935(G;G)
Reference rs104893935(C;C)
Significance Pathogenic
Disease Werdnig-Hoffmann disease Spinal muscular atrophy
Variation info
Gene SMN1
CLNDBN Werdnig-Hoffmann disease Spinal muscular atrophy, type II
Reversed 0
HGVS NC_000005.9:g.70238243C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009754.1, RCV000009755.1,