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rs121912671

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912671(C;T)
Make rs121912671(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position232545570
GeneCHRNG
is asnp
is mentioned by
dbSNPrs121912671
ebirs121912671
HLIrs121912671
Exacrs121912671
Varsomers121912671
Maprs121912671
PheGenIrs121912671
hapmaprs121912671
1000 genomesrs121912671
hgdprs121912671
ensemblrs121912671
gopubmedrs121912671
geneviewrs121912671
scholarrs121912671
googlers121912671
pharmgkbrs121912671
gwascentralrs121912671
openSNPrs121912671
23andMers121912671
23andMe allrs121912671
SNP Nexus

SNPshotrs121912671
SNPdbers121912671
MSV3drs121912671
GWAS Ctlgrs121912671
Max Magnitude0
OMIM100730
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121912671(T;T)
Alt rs121912671(T;T)
Reference rs121912671(C;C)
Significance Pathogenic
Disease Multiple pterygium syndrome Escobar type
Variation info
Gene CHRNG
CLNDBN Multiple pterygium syndrome Escobar type
Reversed 0
HGVS NC_000002.11:g.233410280C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000020006.28,