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rs267607193

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607193(C;C)
Make rs267607193(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position129440351
GeneIFT122, MBD4
is asnp
is mentioned by
dbSNPrs267607193
ebirs267607193
HLIrs267607193
Exacrs267607193
Varsomers267607193
Maprs267607193
PheGenIrs267607193
hapmaprs267607193
1000 genomesrs267607193
hgdprs267607193
ensemblrs267607193
gopubmedrs267607193
geneviewrs267607193
scholarrs267607193
googlers267607193
pharmgkbrs267607193
gwascentralrs267607193
openSNPrs267607193
23andMers267607193
23andMe allrs267607193
SNP Nexus

SNPshotrs267607193
SNPdbers267607193
MSV3drs267607193
GWAS Ctlgrs267607193
Max Magnitude0
ClinVar
Risk rs267607193(C;C)
Alt rs267607193(C;C)
Reference rs267607193(G;G)
Significance Pathogenic
Disease Cranioectodermal dysplasia 1
Variation info
Gene IFT122 MBD4
CLNDBN Cranioectodermal dysplasia 1
Reversed 0
HGVS NC_000003.11:g.129159194G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004901.4,