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rs104894609

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894609(G;T)
Make rs104894609(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position56594788
GeneNOG
is asnp
is mentioned by
dbSNPrs104894609
dbSNP (classic)rs104894609
ClinGenrs104894609
ebirs104894609
HLIrs104894609
Exacrs104894609
Gnomadrs104894609
Varsomers104894609
LitVarrs104894609
Maprs104894609
PheGenIrs104894609
Biobankrs104894609
1000 genomesrs104894609
hgdprs104894609
ensemblrs104894609
geneviewrs104894609
scholarrs104894609
googlers104894609
pharmgkbrs104894609
gwascentralrs104894609
openSNPrs104894609
23andMers104894609
SNPshotrs104894609
SNPdbers104894609
MSV3drs104894609
GWAS Ctlgrs104894609
Max Magnitude0
OMIM602991
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894609(T;T)
Alt rs104894609(T;T)
Reference Rs104894609(G;G)
Significance Pathogenic
Disease Cushing's symphalangism
Variation info
Gene NOG
CLNDBN Cushing's symphalangism
Reversed 0
HGVS NC_000017.10:g.54672149G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007083.3,