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rs149366137

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs149366137(A;A)
Make rs149366137(A;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position74084972
GeneC2CD3
is asnp
is mentioned by
dbSNPrs149366137
dbSNP (classic)rs149366137
ClinGenrs149366137
ebirs149366137
HLIrs149366137
Exacrs149366137
Gnomadrs149366137
Varsomers149366137
LitVarrs149366137
Maprs149366137
PheGenIrs149366137
Biobankrs149366137
1000 genomesrs149366137
hgdprs149366137
ensemblrs149366137
geneviewrs149366137
scholarrs149366137
googlers149366137
pharmgkbrs149366137
gwascentralrs149366137
openSNPrs149366137
23andMers149366137
SNPshotrs149366137
SNPdbers149366137
MSV3drs149366137
GWAS Ctlgrs149366137
Max Magnitude0
ClinVar
Risk rs149366137(A;A)
Alt rs149366137(A;A)
Reference Rs149366137(T;T)
Significance Pathogenic
Disease Orofaciodigital syndrome xiv
Variation info
Gene C2CD3
CLNDBN Orofaciodigital syndrome xiv
Reversed 0
HGVS NC_000011.9:g.73796017T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000133547.4,