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rs104894612

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894612(A;A)
Make rs104894612(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position56594774
GeneNOG
is asnp
is mentioned by
dbSNPrs104894612
dbSNP (classic)rs104894612
ClinGenrs104894612
ebirs104894612
HLIrs104894612
Exacrs104894612
Gnomadrs104894612
Varsomers104894612
LitVarrs104894612
Maprs104894612
PheGenIrs104894612
Biobankrs104894612
1000 genomesrs104894612
hgdprs104894612
ensemblrs104894612
geneviewrs104894612
scholarrs104894612
googlers104894612
pharmgkbrs104894612
gwascentralrs104894612
openSNPrs104894612
23andMers104894612
SNPshotrs104894612
SNPdbers104894612
MSV3drs104894612
GWAS Ctlgrs104894612
Max Magnitude0
OMIM602991
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104894612(A;A)
Alt rs104894612(A;A)
Reference Rs104894612(G;G)
Significance Pathogenic
Disease Cushing's symphalangism
Variation info
Gene NOG
CLNDBN Cushing's symphalangism
Reversed 0
HGVS NC_000017.10:g.54672135G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007089.3,