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rs140130028

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs140130028(C;T)
Make rs140130028(T;T)
ReferenceGRCh38 38.1/142
Chromosome14
Position74480701
GeneMIR4709, NPC2
is asnp
is mentioned by
dbSNPrs140130028
ebirs140130028
HLIrs140130028
Exacrs140130028
Varsomers140130028
Maprs140130028
PheGenIrs140130028
hapmaprs140130028
1000 genomesrs140130028
hgdprs140130028
ensemblrs140130028
gopubmedrs140130028
geneviewrs140130028
scholarrs140130028
googlers140130028
pharmgkbrs140130028
gwascentralrs140130028
openSNPrs140130028
23andMers140130028
23andMe allrs140130028
SNP Nexus

SNPshotrs140130028
SNPdbers140130028
MSV3drs140130028
GWAS Ctlgrs140130028
Max Magnitude0
ClinVar
Risk rs140130028(T;T)
Alt rs140130028(T;T)
Reference rs140130028(C;C)
Significance Pathogenic
Disease Niemann-Pick disease type C2 not provided
Variation info
Gene NPC2 MIR4709
CLNDBN Niemann-Pick disease type C2 not provided
Reversed 0
HGVS NC_000014.8:g.74947404C>T
CLNSRC HGMD
CLNACC RCV000087100.1, RCV000153589.4,