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rs267607192

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607192(C;T)
Make rs267607192(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position129476463
GeneIFT122
is asnp
is mentioned by
dbSNPrs267607192
ebirs267607192
HLIrs267607192
Exacrs267607192
Varsomers267607192
Maprs267607192
PheGenIrs267607192
hapmaprs267607192
1000 genomesrs267607192
hgdprs267607192
ensemblrs267607192
gopubmedrs267607192
geneviewrs267607192
scholarrs267607192
googlers267607192
pharmgkbrs267607192
gwascentralrs267607192
openSNPrs267607192
23andMers267607192
23andMe allrs267607192
SNP Nexus

SNPshotrs267607192
SNPdbers267607192
MSV3drs267607192
GWAS Ctlgrs267607192
Max Magnitude0
ClinVar
Risk rs267607192(T;T)
Alt rs267607192(T;T)
Reference rs267607192(C;C)
Significance Pathogenic
Disease Cranioectodermal dysplasia 1
Variation info
Gene IFT122
CLNDBN Cranioectodermal dysplasia 1
Reversed 0
HGVS NC_000003.11:g.129195306C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004899.2,