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rs121908440

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908440(C;T)
Make rs121908440(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position93830534
GeneGPC6, GPC6-AS2
is asnp
is mentioned by
dbSNPrs121908440
ebirs121908440
HLIrs121908440
Exacrs121908440
Varsomers121908440
Maprs121908440
PheGenIrs121908440
hapmaprs121908440
1000 genomesrs121908440
hgdprs121908440
ensemblrs121908440
gopubmedrs121908440
geneviewrs121908440
scholarrs121908440
googlers121908440
pharmgkbrs121908440
gwascentralrs121908440
openSNPrs121908440
23andMers121908440
23andMe allrs121908440
SNP Nexus

SNPshotrs121908440
SNPdbers121908440
MSV3drs121908440
GWAS Ctlgrs121908440
Max Magnitude0
OMIM604404
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121908440(T;T)
Alt rs121908440(T;T)
Reference rs121908440(C;C)
Significance Pathogenic
Disease Omodysplasia 1
Variation info
Gene GPC6 GPC6-AS2
CLNDBN Omodysplasia 1
Reversed 0
HGVS NC_000013.10:g.94482787C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005891.4,