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rs104894603

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894603(G;G)
Make rs104894603(G;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position56594872
GeneNOG
is asnp
is mentioned by
dbSNPrs104894603
dbSNP (classic)rs104894603
ClinGenrs104894603
ebirs104894603
HLIrs104894603
Exacrs104894603
Gnomadrs104894603
Varsomers104894603
LitVarrs104894603
Maprs104894603
PheGenIrs104894603
Biobankrs104894603
1000 genomesrs104894603
hgdprs104894603
ensemblrs104894603
geneviewrs104894603
scholarrs104894603
googlers104894603
pharmgkbrs104894603
gwascentralrs104894603
openSNPrs104894603
23andMers104894603
SNPshotrs104894603
SNPdbers104894603
MSV3drs104894603
GWAS Ctlgrs104894603
Max Magnitude0
OMIM602991
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894603(G;G)
Alt rs104894603(G;G)
Reference Rs104894603(T;T)
Significance Pathogenic
Disease Symphalangism-brachydactyly syndrome
Variation info
Gene NOG
CLNDBN Symphalangism-brachydactyly syndrome
Reversed 0
HGVS NC_000017.10:g.54672233T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007081.2,