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rs863223282

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863223282(-;-)
Make rs863223282(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position94027795
GeneGPC6
is asnp
is mentioned by
dbSNPrs863223282
dbSNP (classic)rs863223282
ClinGenrs863223282
ebirs863223282
HLIrs863223282
Exacrs863223282
Gnomadrs863223282
Varsomers863223282
LitVarrs863223282
Maprs863223282
PheGenIrs863223282
Biobankrs863223282
1000 genomesrs863223282
hgdprs863223282
ensemblrs863223282
geneviewrs863223282
scholarrs863223282
googlers863223282
pharmgkbrs863223282
gwascentralrs863223282
openSNPrs863223282
23andMers863223282
SNPshotrs863223282
SNPdbers863223282
MSV3drs863223282
GWAS Ctlgrs863223282
Max Magnitude0
ClinVar
Risk rs863223282(-;-)
Alt rs863223282(-;-)
Reference Rs863223282(C;C)
Significance Pathogenic
Disease Omodysplasia 1
Variation info
Gene GPC6
CLNDBN Omodysplasia 1
Reversed 0
HGVS NC_000013.10:g.94680049delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000005888.3,