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rs587777187

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777187(C;T)
Make rs587777187(T;T)
ReferenceGRCh38 38.1/142
Chromosome18
Position62143306
GenePIGN
is asnp
is mentioned by
dbSNPrs587777187
ebirs587777187
HLIrs587777187
Exacrs587777187
Varsomers587777187
Maprs587777187
PheGenIrs587777187
hapmaprs587777187
1000 genomesrs587777187
hgdprs587777187
ensemblrs587777187
gopubmedrs587777187
geneviewrs587777187
scholarrs587777187
googlers587777187
pharmgkbrs587777187
gwascentralrs587777187
openSNPrs587777187
23andMers587777187
23andMe allrs587777187
SNP Nexus

SNPshotrs587777187
SNPdbers587777187
MSV3drs587777187
GWAS Ctlgrs587777187
Max Magnitude0
ClinVar
Risk rs587777187(T;T)
Alt rs587777187(T;T)
Reference rs587777187(C;C)
Significance Pathogenic
Disease Multiple congenital anomalies-hypotonia-seizures syndrome 1
Variation info
Gene PIGN
CLNDBN Multiple congenital anomalies-hypotonia-seizures syndrome 1
Reversed 0
HGVS NC_000018.9:g.59810539C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000087306.6,