Have questions? Visit https://www.reddit.com/r/SNPedia

rs104894602

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894602(A;G)
Make rs104894602(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position56594888
GeneNOG
is asnp
is mentioned by
dbSNPrs104894602
dbSNP (classic)rs104894602
ClinGenrs104894602
ebirs104894602
HLIrs104894602
Exacrs104894602
Gnomadrs104894602
Varsomers104894602
LitVarrs104894602
Maprs104894602
PheGenIrs104894602
Biobankrs104894602
1000 genomesrs104894602
hgdprs104894602
ensemblrs104894602
geneviewrs104894602
scholarrs104894602
googlers104894602
pharmgkbrs104894602
gwascentralrs104894602
openSNPrs104894602
23andMers104894602
SNPshotrs104894602
SNPdbers104894602
MSV3drs104894602
GWAS Ctlgrs104894602
Max Magnitude0
OMIM602991
Desc
Variant0001
Relatedalso
OMIM602991
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104894602(G;G)
Alt rs104894602(G;G)
Reference Rs104894602(A;A)
Significance Pathogenic
Disease Cushing's symphalangism Tarsal carpal coalition syndrome
Variation info
Gene NOG
CLNDBN Cushing's symphalangism Tarsal carpal coalition syndrome
Reversed 0
HGVS NC_000017.10:g.54672249A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007079.4, RCV000007087.2,