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rs121909506

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909506(C;C)
Make rs121909506(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position232528301
GeneCHRND
is asnp
is mentioned by
dbSNPrs121909506
ebirs121909506
HLIrs121909506
Exacrs121909506
Varsomers121909506
Maprs121909506
PheGenIrs121909506
hapmaprs121909506
1000 genomesrs121909506
hgdprs121909506
ensemblrs121909506
gopubmedrs121909506
geneviewrs121909506
scholarrs121909506
googlers121909506
pharmgkbrs121909506
gwascentralrs121909506
openSNPrs121909506
23andMers121909506
23andMe allrs121909506
SNP Nexus

SNPshotrs121909506
SNPdbers121909506
MSV3drs121909506
GWAS Ctlgrs121909506
Max Magnitude0
OMIM100720
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121909506(C;C)
Alt rs121909506(C;C)
Reference rs121909506(T;T)
Significance Pathogenic
Disease Lethal multiple pterygium syndrome
Variation info
Gene CHRND
CLNDBN Lethal multiple pterygium syndrome
Reversed 0
HGVS NC_000002.11:g.233393011T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000020037.28,