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rs121909505

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909505(A;A)
Make rs121909505(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position232527436
GeneCHRND
is asnp
is mentioned by
dbSNPrs121909505
dbSNP (classic)rs121909505
ClinGenrs121909505
ebirs121909505
HLIrs121909505
Exacrs121909505
Gnomadrs121909505
Varsomers121909505
LitVarrs121909505
Maprs121909505
PheGenIrs121909505
Biobankrs121909505
1000 genomesrs121909505
hgdprs121909505
ensemblrs121909505
geneviewrs121909505
scholarrs121909505
googlers121909505
pharmgkbrs121909505
gwascentralrs121909505
openSNPrs121909505
23andMers121909505
SNPshotrs121909505
SNPdbers121909505
MSV3drs121909505
GWAS Ctlgrs121909505
Max Magnitude0
OMIM100720
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121909505(A;A)
Alt rs121909505(A;A)
Reference Rs121909505(G;G)
Significance Pathogenic
Disease Lethal multiple pterygium syndrome
Variation info
Gene CHRND
CLNDBN Lethal multiple pterygium syndrome
Reversed 0
HGVS NC_000002.11:g.233392146G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000020036.26,