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rs587776896

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587776896(-;-)
Make rs587776896(-;G)
Make rs587776896(G;G)
ReferenceGRCh38 38.1/142
Chromosome17
Position78997395
GeneCANT1
is asnp
is mentioned by
dbSNPrs587776896
ebirs587776896
HLIrs587776896
Exacrs587776896
Varsomers587776896
Maprs587776896
PheGenIrs587776896
hapmaprs587776896
1000 genomesrs587776896
hgdprs587776896
ensemblrs587776896
gopubmedrs587776896
geneviewrs587776896
scholarrs587776896
googlers587776896
pharmgkbrs587776896
gwascentralrs587776896
openSNPrs587776896
23andMers587776896
23andMe allrs587776896
SNP Nexus

SNPshotrs587776896
SNPdbers587776896
MSV3drs587776896
GWAS Ctlgrs587776896
Max Magnitude0
ClinVar
Risk rs587776896(G;G)
Alt rs587776896(G;G)
Reference rs587776896(;)
Significance Pathogenic
Disease Desbuquois syndrome
Variation info
Gene CANT1
CLNDBN Desbuquois syndrome
Reversed 0
HGVS NC_000017.10:g.76993477dupG
CLNSRC OMIM Allelic Variant
CLNACC RCV000024006.4,