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rs397515568

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515568(A;A)
Make rs397515568(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position129479917
GeneIFT122
is asnp
is mentioned by
dbSNPrs397515568
ebirs397515568
HLIrs397515568
Exacrs397515568
Varsomers397515568
Maprs397515568
PheGenIrs397515568
hapmaprs397515568
1000 genomesrs397515568
hgdprs397515568
ensemblrs397515568
gopubmedrs397515568
geneviewrs397515568
scholarrs397515568
googlers397515568
pharmgkbrs397515568
gwascentralrs397515568
openSNPrs397515568
23andMers397515568
23andMe allrs397515568
SNP Nexus

SNPshotrs397515568
SNPdbers397515568
MSV3drs397515568
GWAS Ctlgrs397515568
Max Magnitude0
ClinVar
Risk rs397515568(A;A)
Alt rs397515568(A;A)
Reference rs397515568(G;G)
Significance Pathogenic
Disease Cranioectodermal dysplasia 1
Variation info
Gene IFT122
CLNDBN Cranioectodermal dysplasia 1
Reversed 0
HGVS NC_000003.11:g.129198760G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000055972.1,