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rs104894613

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894613(A;A)
Make rs104894613(A;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position56594609
GeneNOG
is asnp
is mentioned by
dbSNPrs104894613
dbSNP (classic)rs104894613
ClinGenrs104894613
ebirs104894613
HLIrs104894613
Exacrs104894613
Gnomadrs104894613
Varsomers104894613
LitVarrs104894613
Maprs104894613
PheGenIrs104894613
Biobankrs104894613
1000 genomesrs104894613
hgdprs104894613
ensemblrs104894613
geneviewrs104894613
scholarrs104894613
googlers104894613
pharmgkbrs104894613
gwascentralrs104894613
openSNPrs104894613
23andMers104894613
SNPshotrs104894613
SNPdbers104894613
MSV3drs104894613
GWAS Ctlgrs104894613
Max Magnitude0
OMIM602991
Desc
Variant0010
Relatedalso
ClinVar
Risk rs104894613(A;A)
Alt rs104894613(A;A)
Reference Rs104894613(T;T)
Significance Pathogenic
Disease Cushing's symphalangism
Variation info
Gene NOG
CLNDBN Cushing's symphalangism
Reversed 0
HGVS NC_000017.10:g.54671970T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007090.3,