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rs374298314

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs374298314(G;T)
Make rs374298314(T;T)
ReferenceGRCh38 38.1/142
Chromosome19
Position47479874
GeneKPTN
is asnp
is mentioned by
dbSNPrs374298314
ebirs374298314
HLIrs374298314
Exacrs374298314
Varsomers374298314
Maprs374298314
PheGenIrs374298314
hapmaprs374298314
1000 genomesrs374298314
hgdprs374298314
ensemblrs374298314
gopubmedrs374298314
geneviewrs374298314
scholarrs374298314
googlers374298314
pharmgkbrs374298314
gwascentralrs374298314
openSNPrs374298314
23andMers374298314
23andMe allrs374298314
SNP Nexus

SNPshotrs374298314
SNPdbers374298314
MSV3drs374298314
GWAS Ctlgrs374298314
Max Magnitude0
ClinVar
Risk rs374298314(A,T;A,T)
Alt rs374298314(A,T;A,T)
Reference rs374298314(G;G)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene KPTN
CLNDBN Mental retardation, autosomal recessive 41
Reversed 0
HGVS NC_000019.9:g.47983131G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000087079.3,