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rs587777148

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs587777148(-;ACCGACCACATCTGCAGA)
Make rs587777148(ACCGACCACATCTGCAGA;ACCGACCACATCTGCAGA)
ReferenceGRCh38 38.1/142
Chromosome19
Position47479936
GeneKPTN
is asnp
is mentioned by
dbSNPrs587777148
dbSNP (old)rs587777148
ClinGenrs587777148
ebirs587777148
HLIrs587777148
Exacrs587777148
Varsomers587777148
Maprs587777148
PheGenIrs587777148
Biobankrs587777148
1000 genomesrs587777148
hgdprs587777148
ensemblrs587777148
gopubmedrs587777148
geneviewrs587777148
scholarrs587777148
googlers587777148
pharmgkbrs587777148
gwascentralrs587777148
openSNPrs587777148
23andMers587777148
23andMe allrs587777148
SNP Nexus

SNPshotrs587777148
SNPdbers587777148
MSV3drs587777148
GWAS Ctlgrs587777148
Max Magnitude0
ClinVar
Risk rs587777148(ACCGACCACATCTGCAGA;ACCGACCACATCTGCAGA)
Alt rs587777148(ACCGACCACATCTGCAGA;ACCGACCACATCTGCAGA)
Reference Rs587777148(-;-)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene KPTN
CLNDBN Mental retardation, autosomal recessive 41
Reversed 0
HGVS NC_000019.9:g.47983176_47983193dup18
CLNSRC OMIM Allelic Variant
CLNACC RCV000087080.6,