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rs267606726

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267606726(G;G)
Make rs267606726(G;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position232540681
GeneCHRNG
is asnp
is mentioned by
dbSNPrs267606726
dbSNP (classic)rs267606726
ClinGenrs267606726
ebirs267606726
HLIrs267606726
Exacrs267606726
Gnomadrs267606726
Varsomers267606726
LitVarrs267606726
Maprs267606726
PheGenIrs267606726
Biobankrs267606726
1000 genomesrs267606726
hgdprs267606726
ensemblrs267606726
geneviewrs267606726
scholarrs267606726
googlers267606726
pharmgkbrs267606726
gwascentralrs267606726
openSNPrs267606726
23andMers267606726
SNPshotrs267606726
SNPdbers267606726
MSV3drs267606726
GWAS Ctlgrs267606726
Max Magnitude0
ClinVar
Risk rs267606726(G;G)
Alt rs267606726(G;G)
Reference Rs267606726(T;T)
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.233405391T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000020007.29, RCV000020008.29,