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rs606231261

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs606231261(C;C)
Make rs606231261(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37187795
GeneC5orf42
is asnp
is mentioned by
dbSNPrs606231261
dbSNP (classic)rs606231261
ClinGenrs606231261
ebirs606231261
HLIrs606231261
Exacrs606231261
Gnomadrs606231261
Varsomers606231261
LitVarrs606231261
Maprs606231261
PheGenIrs606231261
Biobankrs606231261
1000 genomesrs606231261
hgdprs606231261
ensemblrs606231261
geneviewrs606231261
scholarrs606231261
googlers606231261
pharmgkbrs606231261
gwascentralrs606231261
openSNPrs606231261
23andMers606231261
SNPshotrs606231261
SNPdbers606231261
MSV3drs606231261
GWAS Ctlgrs606231261
Max Magnitude0
ClinVar
Risk rs606231261(C;C)
Alt rs606231261(C;C)
Reference Rs606231261(G;G)
Significance Pathogenic
Disease Orofaciodigital syndrome 6
Variation info
Gene C5orf42
CLNDBN Orofaciodigital syndrome 6
Reversed 1
HGVS NC_000005.9:g.37187897C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000144861.3,