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rs587777027

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587777027(A;C)
Make rs587777027(C;C)
ReferenceGRCh38 38.1/142
Chromosome20
Position45419348
GenePIGT
is asnp
is mentioned by
dbSNPrs587777027
ebirs587777027
HLIrs587777027
Exacrs587777027
Varsomers587777027
Maprs587777027
PheGenIrs587777027
hapmaprs587777027
1000 genomesrs587777027
hgdprs587777027
ensemblrs587777027
gopubmedrs587777027
geneviewrs587777027
scholarrs587777027
googlers587777027
pharmgkbrs587777027
gwascentralrs587777027
openSNPrs587777027
23andMers587777027
23andMe allrs587777027
SNP Nexus

SNPshotrs587777027
SNPdbers587777027
MSV3drs587777027
GWAS Ctlgrs587777027
Max Magnitude0
ClinVar
Risk rs587777027(C;C)
Alt rs587777027(C;C)
Reference rs587777027(A;A)
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.44047988A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000054819.3,