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rs767503038

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs767503038(-;-)
Make rs767503038(-;CT)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position232543030
GeneCHRNG
is asnp
is mentioned by
dbSNPrs767503038
dbSNP (old)rs767503038
ClinGenrs767503038
ebirs767503038
HLIrs767503038
Exacrs767503038
Gnomadrs767503038
Varsomers767503038
Maprs767503038
PheGenIrs767503038
Biobankrs767503038
1000 genomesrs767503038
hgdprs767503038
ensemblrs767503038
gopubmedrs767503038
geneviewrs767503038
scholarrs767503038
googlers767503038
pharmgkbrs767503038
gwascentralrs767503038
openSNPrs767503038
23andMers767503038
23andMe allrs767503038
SNP Nexus

SNPshotrs767503038
SNPdbers767503038
MSV3drs767503038
GWAS Ctlgrs767503038
Max Magnitude0
ClinVar
Risk rs767503038(-;-)
Alt rs767503038(-;-)
Reference Rs767503038(CT;CT)
Significance Pathogenic
Disease Lethal multiple pterygium syndrome Multiple pterygium syndrome Escobar type not provided
Variation info
Gene CHRNG
CLNDBN Lethal multiple pterygium syndrome Multiple pterygium syndrome Escobar type not provided
Reversed 0
HGVS NC_000002.11:g.233407740_233407741delCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000020010.28, RCV000201795.1, RCV000282633.1,