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rs1057519242

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519242(G;T)
Make rs1057519242(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23540506
GeneNPC1
is asnp
is mentioned by
dbSNPrs1057519242
dbSNP (old)rs1057519242
ClinGenrs1057519242
ebirs1057519242
HLIrs1057519242
Exacrs1057519242
Gnomadrs1057519242
Varsomers1057519242
Maprs1057519242
PheGenIrs1057519242
Biobankrs1057519242
1000 genomesrs1057519242
hgdprs1057519242
ensemblrs1057519242
gopubmedrs1057519242
geneviewrs1057519242
scholarrs1057519242
googlers1057519242
pharmgkbrs1057519242
gwascentralrs1057519242
openSNPrs1057519242
23andMers1057519242
23andMe allrs1057519242
SNPshotrs1057519242
SNPdbers1057519242
MSV3drs1057519242
GWAS Ctlgrs1057519242
Max Magnitude0
ClinVar
Risk rs1057519242(T;T)
Alt rs1057519242(T;T)
Reference Rs1057519242(G;G)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene NPC1
CLNDBN not provided
Reversed 1
HGVS NC_000018.9:g.21120470C>A
CLNSRC
CLNACC RCV000415919.1,