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rs376355678

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs376355678(C;G)
Make rs376355678(G;G)
ReferenceGRCh38.p7 38.3/149
Chromosome18
Position62106985
GenePIGN
is asnp
is mentioned by
dbSNPrs376355678
dbSNP (classic)rs376355678
ClinGenrs376355678
ebirs376355678
HLIrs376355678
Exacrs376355678
Gnomadrs376355678
Varsomers376355678
LitVarrs376355678
Maprs376355678
PheGenIrs376355678
Biobankrs376355678
1000 genomesrs376355678
hgdprs376355678
ensemblrs376355678
geneviewrs376355678
scholarrs376355678
googlers376355678
pharmgkbrs376355678
gwascentralrs376355678
openSNPrs376355678
23andMers376355678
SNPshotrs376355678
SNPdbers376355678
MSV3drs376355678
GWAS Ctlgrs376355678
Max Magnitude0
ClinVar
Risk rs376355678(G;G) rs376355678(T;T)
Alt rs376355678(G;G) rs376355678(T;T)
Reference Rs376355678(C;C)
Significance Pathogenic
Disease Multiple congenital anomalies-hypotonia-seizures syndrome 1 not provided
Variation info
Gene PIGN
CLNDBN Multiple congenital anomalies-hypotonia-seizures syndrome 1 not provided
Reversed 0
HGVS NC_000018.9:g.59774218C>G; NC_000018.9:g.59774218C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000241768.1, RCV000488252.1,