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rs267607191

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267607191(G;G)
Make rs267607191(G;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position129481546
GeneIFT122
is asnp
is mentioned by
dbSNPrs267607191
ebirs267607191
HLIrs267607191
Exacrs267607191
Varsomers267607191
Maprs267607191
PheGenIrs267607191
hapmaprs267607191
1000 genomesrs267607191
hgdprs267607191
ensemblrs267607191
gopubmedrs267607191
geneviewrs267607191
scholarrs267607191
googlers267607191
pharmgkbrs267607191
gwascentralrs267607191
openSNPrs267607191
23andMers267607191
23andMe allrs267607191
SNP Nexus

SNPshotrs267607191
SNPdbers267607191
MSV3drs267607191
GWAS Ctlgrs267607191
Max Magnitude0
ClinVar
Risk rs267607191(G;G)
Alt rs267607191(G;G)
Reference rs267607191(T;T)
Significance Pathogenic
Disease Cranioectodermal dysplasia 1
Variation info
Gene IFT122
CLNDBN Cranioectodermal dysplasia 1
Reversed 0
HGVS NC_000003.11:g.129200389T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004898.2,