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rs863223313

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs863223313(-;AGGGTGCCG)
Make rs863223313(AGGGTGCCG;AGGGTGCCG)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position232540670
GeneCHRNG
is asnp
is mentioned by
dbSNPrs863223313
ClinGenrs863223313
ebirs863223313
HLIrs863223313
Exacrs863223313
Varsomers863223313
Maprs863223313
PheGenIrs863223313
hapmaprs863223313
1000 genomesrs863223313
hgdprs863223313
ensemblrs863223313
gopubmedrs863223313
geneviewrs863223313
scholarrs863223313
googlers863223313
pharmgkbrs863223313
gwascentralrs863223313
openSNPrs863223313
23andMers863223313
23andMe allrs863223313
SNP Nexus

SNPshotrs863223313
SNPdbers863223313
MSV3drs863223313
GWAS Ctlgrs863223313
Max Magnitude0
ClinVar
Risk rs863223313(GAGGGTGCC;GAGGGTGCC)
Alt rs863223313(GAGGGTGCC;GAGGGTGCC)
Reference Rs863223313(-;-)
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.233405372_233405380dupAGGGTGCCG
CLNSRC OMIM Allelic Variant
CLNACC RCV000020005.29,