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rs786203999

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786203999(C;G)
Make rs786203999(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position46906858
GeneGPT2
is asnp
is mentioned by
dbSNPrs786203999
ebirs786203999
HLIrs786203999
Exacrs786203999
Varsomers786203999
Maprs786203999
PheGenIrs786203999
hapmaprs786203999
1000 genomesrs786203999
hgdprs786203999
ensemblrs786203999
gopubmedrs786203999
geneviewrs786203999
scholarrs786203999
googlers786203999
pharmgkbrs786203999
gwascentralrs786203999
openSNPrs786203999
23andMers786203999
23andMe allrs786203999
SNP Nexus

SNPshotrs786203999
SNPdbers786203999
MSV3drs786203999
GWAS Ctlgrs786203999
Max Magnitude0
ClinVar
Risk rs786203999(G;G)
Alt rs786203999(G;G)
Reference rs786203999(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene GPT2
CLNDBN Mental retardation, autosomal recessive 49
Reversed 0
HGVS NC_000016.9:g.46940770C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000167577.4,