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rs372392424

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs372392424(C;T)
Make rs372392424(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome4
Position523849
GenePIGG
is asnp
is mentioned by
dbSNPrs372392424
dbSNP (classic)rs372392424
ClinGenrs372392424
ebirs372392424
HLIrs372392424
Exacrs372392424
Gnomadrs372392424
Varsomers372392424
LitVarrs372392424
Maprs372392424
PheGenIrs372392424
Biobankrs372392424
1000 genomesrs372392424
hgdprs372392424
ensemblrs372392424
geneviewrs372392424
scholarrs372392424
googlers372392424
pharmgkbrs372392424
gwascentralrs372392424
openSNPrs372392424
23andMers372392424
SNPshotrs372392424
SNPdbers372392424
MSV3drs372392424
GWAS Ctlgrs372392424
Max Magnitude0
ClinVar
Risk rs372392424(T;T)
Alt rs372392424(T;T)
Reference Rs372392424(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene PIGG
CLNDBN Mental retardation, autosomal recessive 53
Reversed 0
HGVS NC_000004.11:g.517638C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000210937.1,