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rs387907107

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387907107(A;G)
Make rs387907107(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position75985787
GeneIFT43
is asnp
is mentioned by
dbSNPrs387907107
ebirs387907107
HLIrs387907107
Exacrs387907107
Varsomers387907107
Maprs387907107
PheGenIrs387907107
hapmaprs387907107
1000 genomesrs387907107
hgdprs387907107
ensemblrs387907107
gopubmedrs387907107
geneviewrs387907107
scholarrs387907107
googlers387907107
pharmgkbrs387907107
gwascentralrs387907107
openSNPrs387907107
23andMers387907107
23andMe allrs387907107
SNP Nexus

SNPshotrs387907107
SNPdbers387907107
MSV3drs387907107
GWAS Ctlgrs387907107
Max Magnitude0
ClinVar
Risk rs387907107(G;G)
Alt rs387907107(G;G)
Reference rs387907107(A;A)
Significance Pathogenic
Disease Cranioectodermal dysplasia 3
Variation info
Gene IFT43
CLNDBN Cranioectodermal dysplasia 3
Reversed 0
HGVS NC_000014.8:g.76452130A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000024093.2,