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rs606231258

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs606231258(G;T)
Make rs606231258(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position37205455
GeneC5orf42
is asnp
is mentioned by
dbSNPrs606231258
dbSNP (classic)rs606231258
ClinGenrs606231258
ebirs606231258
HLIrs606231258
Exacrs606231258
Gnomadrs606231258
Varsomers606231258
LitVarrs606231258
Maprs606231258
PheGenIrs606231258
Biobankrs606231258
1000 genomesrs606231258
hgdprs606231258
ensemblrs606231258
geneviewrs606231258
scholarrs606231258
googlers606231258
pharmgkbrs606231258
gwascentralrs606231258
openSNPrs606231258
23andMers606231258
SNPshotrs606231258
SNPdbers606231258
MSV3drs606231258
GWAS Ctlgrs606231258
Max Magnitude0
ClinVar
Risk rs606231258(T;T)
Alt rs606231258(T;T)
Reference Rs606231258(G;G)
Significance Pathogenic
Disease Orofaciodigital syndrome 6
Variation info
Gene C5orf42
CLNDBN Orofaciodigital syndrome 6
Reversed 1
HGVS NC_000005.9:g.37205557C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000144857.3,