Rs104893927

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Orientationminus
Make rs104893927(C;C)
Make rs104893927(C;G)
Make rs104893927(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position70238194
GeneSMN1
is asnp
is mentioned by
dbSNPrs104893927
PheGenIrs104893927
nextbiors104893927
hapmaprs104893927
1000 genomesrs104893927
hgdprs104893927
ensemblrs104893927
gopubmedrs104893927
geneviewrs104893927
scholarrs104893927
googlers104893927
pharmgkbrs104893927
gwascentralrs104893927
openSNPrs104893927
23andMers104893927
23andMe allrs104893927
SNP Nexus

SNPshotrs104893927
SNPdbers104893927
MSV3drs104893927
Max Magnitude
OMIM600354
Desc
Variant0014
Relatedalso
ClinVar
Risk rs104893927(C;C)
Alt rs104893927(C;C)
Reference rs104893927(G;G)
Significance Pathogenic
Disease Kugelberg-Welander disease
Variation info
Gene SMN1
CLNDBN Kugelberg-Welander disease
Reversed 0
HGVS NC_000005.9:g.70238194G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009753.1,