Have questions? Visit https://www.reddit.com/r/SNPedia

rs387907081

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907081(A;A)
Make rs387907081(A;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position78993677
GeneCANT1
is asnp
is mentioned by
dbSNPrs387907081
dbSNP (old)rs387907081
ClinGenrs387907081
ebirs387907081
HLIrs387907081
Exacrs387907081
Gnomadrs387907081
Varsomers387907081
Maprs387907081
PheGenIrs387907081
Biobankrs387907081
1000 genomesrs387907081
hgdprs387907081
ensemblrs387907081
gopubmedrs387907081
geneviewrs387907081
scholarrs387907081
googlers387907081
pharmgkbrs387907081
gwascentralrs387907081
openSNPrs387907081
23andMers387907081
23andMe allrs387907081
SNP Nexus

SNPshotrs387907081
SNPdbers387907081
MSV3drs387907081
GWAS Ctlgrs387907081
Max Magnitude0
ClinVar
Risk rs387907081(A;A)
Alt rs387907081(A;A)
Reference Rs387907081(C;C)
Significance Pathogenic
Disease Desbuquois dysplasia 1
Variation info
Gene CANT1
CLNDBN Desbuquois dysplasia 1
Reversed 1
HGVS NC_000017.10:g.76989759G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000024011.4,