Have questions? Visit https://www.reddit.com/r/SNPedia

rs527236032

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs527236032(-;-)
Make rs527236032(-;T)
Make rs527236032(T;T)
ReferenceGRCh38 38.1/142
Chromosome20
Position45420578
GenePIGT
is asnp
is mentioned by
dbSNPrs527236032
ebirs527236032
HLIrs527236032
Exacrs527236032
Varsomers527236032
Maprs527236032
PheGenIrs527236032
hapmaprs527236032
1000 genomesrs527236032
hgdprs527236032
ensemblrs527236032
gopubmedrs527236032
geneviewrs527236032
scholarrs527236032
googlers527236032
pharmgkbrs527236032
gwascentralrs527236032
openSNPrs527236032
23andMers527236032
23andMe allrs527236032
SNP Nexus

SNPshotrs527236032
SNPdbers527236032
MSV3drs527236032
GWAS Ctlgrs527236032
Max Magnitude0
ClinVar
Risk rs527236032(T;T)
Alt rs527236032(T;T)
Reference rs527236032(;)
Significance Pathogenic
Disease Multiple congenital anomalies-hypotonia-seizures syndrome 3
Variation info
Gene PIGT
CLNDBN Multiple congenital anomalies-hypotonia-seizures syndrome 3
Reversed 0
HGVS NC_000020.10:g.44049218_44049219insT
CLNSRC ClinVar
CLNACC RCV000132729.1,