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rs151220873

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs151220873(C;T)
Make rs151220873(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position74486431
GeneNPC2
is asnp
is mentioned by
dbSNPrs151220873
ebirs151220873
HLIrs151220873
Exacrs151220873
Varsomers151220873
Maprs151220873
PheGenIrs151220873
hapmaprs151220873
1000 genomesrs151220873
hgdprs151220873
ensemblrs151220873
gopubmedrs151220873
geneviewrs151220873
scholarrs151220873
googlers151220873
pharmgkbrs151220873
gwascentralrs151220873
openSNPrs151220873
23andMers151220873
23andMe allrs151220873
SNP Nexus

SNPshotrs151220873
SNPdbers151220873
MSV3drs151220873
GWAS Ctlgrs151220873
Max Magnitude0
ClinVar
Risk rs151220873(T;T)
Alt rs151220873(T;T)
Reference rs151220873(C;C)
Significance Probable-Pathogenic
Disease Brain atrophy Global developmental delay Microcephaly Seizures
Variation info
Gene NPC2
CLNDBN Brain atrophy Global developmental delay Microcephaly Seizures
Reversed 0
HGVS NC_000014.8:g.74953134C>T
CLNSRC
CLNACC RCV000162102.1,