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rs104894614

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894614(C;T)
Make rs104894614(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position56594551
GeneNOG
is asnp
is mentioned by
dbSNPrs104894614
ebirs104894614
HLIrs104894614
Exacrs104894614
Varsomers104894614
Maprs104894614
PheGenIrs104894614
hapmaprs104894614
1000 genomesrs104894614
hgdprs104894614
ensemblrs104894614
gopubmedrs104894614
geneviewrs104894614
scholarrs104894614
googlers104894614
pharmgkbrs104894614
gwascentralrs104894614
openSNPrs104894614
23andMers104894614
23andMe allrs104894614
SNP Nexus

SNPshotrs104894614
SNPdbers104894614
MSV3drs104894614
GWAS Ctlgrs104894614
Max Magnitude0
OMIM602991
Desc
Variant0013
Relatedalso
ClinVar
Risk rs104894614(T;T)
Alt rs104894614(T;T)
Reference rs104894614(C;C)
Significance Pathogenic
Disease Stapes ankylosis with broad thumb and toes
Variation info
Gene NOG
CLNDBN Stapes ankylosis with broad thumb and toes
Reversed 0
HGVS NC_000017.10:g.54671912C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007096.2,