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rs587777186

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587777186(A;G)
Make rs587777186(G;G)
ReferenceGRCh38 38.1/142
Chromosome18
Position62146023
GenePIGN
is asnp
is mentioned by
dbSNPrs587777186
ebirs587777186
HLIrs587777186
Exacrs587777186
Varsomers587777186
Maprs587777186
PheGenIrs587777186
hapmaprs587777186
1000 genomesrs587777186
hgdprs587777186
ensemblrs587777186
gopubmedrs587777186
geneviewrs587777186
scholarrs587777186
googlers587777186
pharmgkbrs587777186
gwascentralrs587777186
openSNPrs587777186
23andMers587777186
23andMe allrs587777186
SNP Nexus

SNPshotrs587777186
SNPdbers587777186
MSV3drs587777186
GWAS Ctlgrs587777186
Max Magnitude0
ClinVar
Risk rs587777186(A,G;A,G)
Alt rs587777186(A,G;A,G)
Reference rs587777186(T;T)
Significance Pathogenic
Disease Multiple congenital anomalies-hypotonia-seizures syndrome 1
Variation info
Gene PIGN
CLNDBN Multiple congenital anomalies-hypotonia-seizures syndrome 1
Reversed 1
HGVS NC_000018.9:g.59813256A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000087305.5,