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rs121912670

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912670(C;T)
Make rs121912670(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position232542992
GeneCHRNG
is asnp
is mentioned by
dbSNPrs121912670
ebirs121912670
HLIrs121912670
Exacrs121912670
Varsomers121912670
Maprs121912670
PheGenIrs121912670
hapmaprs121912670
1000 genomesrs121912670
hgdprs121912670
ensemblrs121912670
gopubmedrs121912670
geneviewrs121912670
scholarrs121912670
googlers121912670
pharmgkbrs121912670
gwascentralrs121912670
openSNPrs121912670
23andMers121912670
23andMe allrs121912670
SNP Nexus

SNPshotrs121912670
SNPdbers121912670
MSV3drs121912670
GWAS Ctlgrs121912670
Max Magnitude0
OMIM100730
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121912670(T;T)
Alt rs121912670(T;T)
Reference rs121912670(C;C)
Significance Pathogenic
Disease Multiple pterygium syndrome Escobar type Lethal multiple pterygium syndrome
Variation info
Gene CHRNG
CLNDBN Multiple pterygium syndrome Escobar type Lethal multiple pterygium syndrome
Reversed 0
HGVS NC_000002.11:g.233407702C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000020003.28, RCV000020004.28,