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rs376595844

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs376595844(A;A)
Make rs376595844(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position129461309
GeneIFT122
is asnp
is mentioned by
dbSNPrs376595844
ebirs376595844
HLIrs376595844
Exacrs376595844
Varsomers376595844
Maprs376595844
PheGenIrs376595844
hapmaprs376595844
1000 genomesrs376595844
hgdprs376595844
ensemblrs376595844
gopubmedrs376595844
geneviewrs376595844
scholarrs376595844
googlers376595844
pharmgkbrs376595844
gwascentralrs376595844
openSNPrs376595844
23andMers376595844
23andMe allrs376595844
SNP Nexus

SNPshotrs376595844
SNPdbers376595844
MSV3drs376595844
GWAS Ctlgrs376595844
Max Magnitude0
ClinVar
Risk rs376595844(A,C,T;A,C,T)
Alt rs376595844(A,C,T;A,C,T)
Reference rs376595844(G;G)
Significance Pathogenic
Disease Cranioectodermal dysplasia 1
Variation info
Gene IFT122
CLNDBN Cranioectodermal dysplasia 1
Reversed 0
HGVS NC_000003.11:g.129180152G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004900.2,