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rs756632799

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs756632799(G;T)
Make rs756632799(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position45416579
GenePIGT
is asnp
is mentioned by
dbSNPrs756632799
ebirs756632799
HLIrs756632799
Exacrs756632799
Varsomers756632799
Maprs756632799
PheGenIrs756632799
hapmaprs756632799
1000 genomesrs756632799
hgdprs756632799
ensemblrs756632799
gopubmedrs756632799
geneviewrs756632799
scholarrs756632799
googlers756632799
pharmgkbrs756632799
gwascentralrs756632799
openSNPrs756632799
23andMers756632799
23andMe allrs756632799
SNP Nexus

SNPshotrs756632799
SNPdbers756632799
MSV3drs756632799
GWAS Ctlgrs756632799
Max Magnitude0
ClinVar
Risk rs756632799(T;T)
Alt rs756632799(T;T)
Reference rs756632799(G;G)
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.44045219G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000210929.1,