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rs387906844

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906844(C;G)
Make rs387906844(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position56594919
GeneNOG
is asnp
is mentioned by
dbSNPrs387906844
dbSNP (classic)rs387906844
ClinGenrs387906844
ebirs387906844
HLIrs387906844
Exacrs387906844
Gnomadrs387906844
Varsomers387906844
LitVarrs387906844
Maprs387906844
PheGenIrs387906844
Biobankrs387906844
1000 genomesrs387906844
hgdprs387906844
ensemblrs387906844
geneviewrs387906844
scholarrs387906844
googlers387906844
pharmgkbrs387906844
gwascentralrs387906844
openSNPrs387906844
23andMers387906844
SNPshotrs387906844
SNPdbers387906844
MSV3drs387906844
GWAS Ctlgrs387906844
Max Magnitude0
ClinVar
Risk rs387906844(G;G) rs387906844(T;T)
Alt rs387906844(G;G) rs387906844(T;T)
Reference Rs387906844(C;C)
Significance Pathogenic
Disease Symphalangism-brachydactyly syndrome
Variation info
Gene NOG
CLNDBN Symphalangism-brachydactyly syndrome
Reversed 0
HGVS NC_000017.10:g.54672280C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023225.2,