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rs121912672

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912672(C;T)
Make rs121912672(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position232540072
GeneCHRNG
is asnp
is mentioned by
dbSNPrs121912672
ebirs121912672
HLIrs121912672
Exacrs121912672
Varsomers121912672
Maprs121912672
PheGenIrs121912672
hapmaprs121912672
1000 genomesrs121912672
hgdprs121912672
ensemblrs121912672
gopubmedrs121912672
geneviewrs121912672
scholarrs121912672
googlers121912672
pharmgkbrs121912672
gwascentralrs121912672
openSNPrs121912672
23andMers121912672
23andMe allrs121912672
SNP Nexus

SNPshotrs121912672
SNPdbers121912672
MSV3drs121912672
GWAS Ctlgrs121912672
Max Magnitude0
OMIM100730
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121912672(T;T)
Alt rs121912672(T;T)
Reference rs121912672(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.233404782C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000020009.28,