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rs121909507

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909507(C;T)
Make rs121909507(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position232535148
GeneCHRND
is asnp
is mentioned by
dbSNPrs121909507
ebirs121909507
HLIrs121909507
Exacrs121909507
Varsomers121909507
Maprs121909507
PheGenIrs121909507
hapmaprs121909507
1000 genomesrs121909507
hgdprs121909507
ensemblrs121909507
gopubmedrs121909507
geneviewrs121909507
scholarrs121909507
googlers121909507
pharmgkbrs121909507
gwascentralrs121909507
openSNPrs121909507
23andMers121909507
23andMe allrs121909507
SNP Nexus

SNPshotrs121909507
SNPdbers121909507
MSV3drs121909507
GWAS Ctlgrs121909507
Max Magnitude0
OMIM100720
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121909507(T;T)
Alt rs121909507(T;T)
Reference rs121909507(C;C)
Significance Pathogenic
Disease Lethal multiple pterygium syndrome
Variation info
Gene CHRND
CLNDBN Lethal multiple pterygium syndrome
Reversed 0
HGVS NC_000002.11:g.233399858C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000020038.27,