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rs145303331

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs145303331(C;C)
Make rs145303331(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position16316686
GenePIGL
is asnp
is mentioned by
dbSNPrs145303331
ebirs145303331
HLIrs145303331
Exacrs145303331
Varsomers145303331
Maprs145303331
PheGenIrs145303331
hapmaprs145303331
1000 genomesrs145303331
hgdprs145303331
ensemblrs145303331
gopubmedrs145303331
geneviewrs145303331
scholarrs145303331
googlers145303331
pharmgkbrs145303331
gwascentralrs145303331
openSNPrs145303331
23andMers145303331
23andMe allrs145303331
SNP Nexus

SNPshotrs145303331
SNPdbers145303331
MSV3drs145303331
GWAS Ctlgrs145303331
GMAF0.0009183
Max Magnitude0
ClinVar
Risk rs145303331(C;C)
Alt rs145303331(C;C)
Reference rs145303331(T;T)
Significance Pathogenic
Disease Zunich neuroectodermal syndrome
Variation info
Gene PIGL
CLNDBN Zunich neuroectodermal syndrome
Reversed 0
HGVS NC_000017.10:g.16220000T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023501.6,