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rs397514475

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514475(A;A)
Make rs397514475(A;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position62095902
GenePIGN
is asnp
is mentioned by
dbSNPrs397514475
ebirs397514475
HLIrs397514475
Exacrs397514475
Varsomers397514475
Maprs397514475
PheGenIrs397514475
hapmaprs397514475
1000 genomesrs397514475
hgdprs397514475
ensemblrs397514475
gopubmedrs397514475
geneviewrs397514475
scholarrs397514475
googlers397514475
pharmgkbrs397514475
gwascentralrs397514475
openSNPrs397514475
23andMers397514475
23andMe allrs397514475
SNP Nexus

SNPshotrs397514475
SNPdbers397514475
MSV3drs397514475
GWAS Ctlgrs397514475
Max Magnitude0
ClinVar
Risk rs397514475(A;A)
Alt rs397514475(A;A)
Reference rs397514475(G;G)
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.59763135C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023506.3,