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rs187464517

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs187464517(C;C)
Make rs187464517(C;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position50757365
GeneNIN
is asnp
is mentioned by
dbSNPrs187464517
ebirs187464517
HLIrs187464517
Exacrs187464517
Varsomers187464517
Maprs187464517
PheGenIrs187464517
hapmaprs187464517
1000 genomesrs187464517
hgdprs187464517
ensemblrs187464517
gopubmedrs187464517
geneviewrs187464517
scholarrs187464517
googlers187464517
pharmgkbrs187464517
gwascentralrs187464517
openSNPrs187464517
23andMers187464517
23andMe allrs187464517
SNP Nexus

SNPshotrs187464517
SNPdbers187464517
MSV3drs187464517
GWAS Ctlgrs187464517
GMAF0.0009183
Max Magnitude0
ClinVar
Risk rs187464517(C;C)
Alt rs187464517(C;C)
Reference rs187464517(T;T)
Significance Pathogenic
Disease Seckel syndrome 7
Variation info
Gene NIN
CLNDBN Seckel syndrome 7
Reversed 0
HGVS NC_000014.8:g.51224083T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000030829.3,