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rs115352435

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs115352435(C;G)
Make rs115352435(G;G)
ReferenceGRCh38.p7 38.3/149
Chromosome16
Position46922414
GeneGPT2
is asnp
is mentioned by
dbSNPrs115352435
dbSNP (old)rs115352435
ClinGenrs115352435
ebirs115352435
HLIrs115352435
Exacrs115352435
Gnomadrs115352435
Varsomers115352435
Maprs115352435
PheGenIrs115352435
Biobankrs115352435
1000 genomesrs115352435
hgdprs115352435
ensemblrs115352435
gopubmedrs115352435
geneviewrs115352435
scholarrs115352435
googlers115352435
pharmgkbrs115352435
gwascentralrs115352435
openSNPrs115352435
23andMers115352435
23andMe allrs115352435
SNPshotrs115352435
SNPdbers115352435
MSV3drs115352435
GWAS Ctlgrs115352435
Max Magnitude0
ClinVar
Risk rs115352435(G;G) rs115352435(T;T)
Alt rs115352435(G;G) rs115352435(T;T)
Reference Rs115352435(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene GPT2
CLNDBN Mental retardation, autosomal recessive 49
Reversed 0
HGVS NC_000016.9:g.46956326C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000241531.1,