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rs397515567

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515567(-;-)
Make rs397515567(-;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position129476453
GeneIFT122
is asnp
is mentioned by
dbSNPrs397515567
ebirs397515567
HLIrs397515567
Exacrs397515567
Varsomers397515567
Maprs397515567
PheGenIrs397515567
hapmaprs397515567
1000 genomesrs397515567
hgdprs397515567
ensemblrs397515567
gopubmedrs397515567
geneviewrs397515567
scholarrs397515567
googlers397515567
pharmgkbrs397515567
gwascentralrs397515567
openSNPrs397515567
23andMers397515567
23andMe allrs397515567
SNP Nexus

SNPshotrs397515567
SNPdbers397515567
MSV3drs397515567
GWAS Ctlgrs397515567
Max Magnitude0
ClinVar
Risk rs397515567(;)
Alt rs397515567(;)
Reference rs397515567(G;G)
Significance Pathogenic
Disease Cranioectodermal dysplasia 1
Variation info
Gene IFT122
CLNDBN Cranioectodermal dysplasia 1
Reversed 0
HGVS NC_000003.11:g.129195296delG
CLNSRC ClinVar GeneReviews
CLNACC RCV000055971.1,