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rs139004722

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs139004722(C;G)
Make rs139004722(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position16317900
GenePIGL
is asnp
is mentioned by
dbSNPrs139004722
ebirs139004722
HLIrs139004722
Exacrs139004722
Varsomers139004722
Maprs139004722
PheGenIrs139004722
hapmaprs139004722
1000 genomesrs139004722
hgdprs139004722
ensemblrs139004722
gopubmedrs139004722
geneviewrs139004722
scholarrs139004722
googlers139004722
pharmgkbrs139004722
gwascentralrs139004722
openSNPrs139004722
23andMers139004722
23andMe allrs139004722
SNP Nexus

SNPshotrs139004722
SNPdbers139004722
MSV3drs139004722
GWAS Ctlgrs139004722
Max Magnitude0
ClinVar
Risk rs139004722(G,T;G,T)
Alt rs139004722(G,T;G,T)
Reference rs139004722(C;C)
Significance Pathogenic
Disease Zunich neuroectodermal syndrome
Variation info
Gene PIGL
CLNDBN Zunich neuroectodermal syndrome
Reversed 0
HGVS NC_000017.10:g.16221214C>G; NC_000017.10:g.16221214C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000147272.1, RCV000023503.3,