Rs104893931

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Orientationminus
Make rs104893931(A;A)
Make rs104893931(A;T)
Make rs104893931(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position70234715
GeneSMN1
is asnp
is mentioned by
dbSNPrs104893931
Exacrs104893931
PheGenIrs104893931
nextbiors104893931
hapmaprs104893931
1000 genomesrs104893931
hgdprs104893931
ensemblrs104893931
gopubmedrs104893931
geneviewrs104893931
scholarrs104893931
googlers104893931
pharmgkbrs104893931
gwascentralrs104893931
openSNPrs104893931
23andMers104893931
23andMe allrs104893931
SNP Nexus

SNPshotrs104893931
SNPdbers104893931
MSV3drs104893931
Max Magnitude
OMIM600354
Desc
Variant0013
Relatedalso
ClinVar
Risk rs104893931(T;T)
Alt rs104893931(T;T)
Reference rs104893931(A;A)
Significance Pathogenic
Disease Kugelberg-Welander disease
Variation info
Gene SMN1
CLNDBN Kugelberg-Welander disease
Reversed 0
HGVS NC_000005.9:g.70234715A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009745.3,