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rs104894611

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894611(C;G)
Make rs104894611(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position56594327
GeneNOG
is asnp
is mentioned by
dbSNPrs104894611
dbSNP (classic)rs104894611
ClinGenrs104894611
ebirs104894611
HLIrs104894611
Exacrs104894611
Gnomadrs104894611
Varsomers104894611
LitVarrs104894611
Maprs104894611
PheGenIrs104894611
Biobankrs104894611
1000 genomesrs104894611
hgdprs104894611
ensemblrs104894611
geneviewrs104894611
scholarrs104894611
googlers104894611
pharmgkbrs104894611
gwascentralrs104894611
openSNPrs104894611
23andMers104894611
SNPshotrs104894611
SNPdbers104894611
MSV3drs104894611
GWAS Ctlgrs104894611
Max Magnitude0
OMIM602991
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104894611(G;G) rs104894611(T;T)
Alt rs104894611(G;G) rs104894611(T;T)
Reference Rs104894611(C;C)
Significance Pathogenic
Disease Tarsal carpal coalition syndrome Cushing's symphalangism
Variation info
Gene NOG
CLNDBN Tarsal carpal coalition syndrome Cushing's symphalangism
Reversed 0
HGVS NC_000017.10:g.54671688C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007085.3, RCV000049267.2,