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rs767601069

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs767601069(-;-)
Make rs767601069(-;A)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position78997345
GeneCANT1
is asnp
is mentioned by
dbSNPrs767601069
dbSNP (classic)rs767601069
ClinGenrs767601069
ebirs767601069
HLIrs767601069
Exacrs767601069
Gnomadrs767601069
Varsomers767601069
LitVarrs767601069
Maprs767601069
PheGenIrs767601069
Biobankrs767601069
1000 genomesrs767601069
hgdprs767601069
ensemblrs767601069
geneviewrs767601069
scholarrs767601069
googlers767601069
pharmgkbrs767601069
gwascentralrs767601069
openSNPrs767601069
23andMers767601069
SNPshotrs767601069
SNPdbers767601069
MSV3drs767601069
GWAS Ctlgrs767601069
Max Magnitude0
ClinVar
Risk rs767601069(-;-)
Alt rs767601069(-;-)
Reference Rs767601069(A;A)
Significance Pathogenic
Disease Desbuquois dysplasia 1
Variation info
Gene CANT1
CLNDBN Desbuquois dysplasia 1
Reversed 0
HGVS NC_000017.10:g.76993427delA
CLNSRC
CLNACC RCV000175968.1,