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rs1057517197

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517197(-;-)
Make rs1057517197(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23545146
GeneNPC1
is asnp
is mentioned by
dbSNPrs1057517197
dbSNP (old)rs1057517197
ClinGenrs1057517197
ebirs1057517197
HLIrs1057517197
Exacrs1057517197
Gnomadrs1057517197
Varsomers1057517197
Maprs1057517197
PheGenIrs1057517197
Biobankrs1057517197
1000 genomesrs1057517197
hgdprs1057517197
ensemblrs1057517197
gopubmedrs1057517197
geneviewrs1057517197
scholarrs1057517197
googlers1057517197
pharmgkbrs1057517197
gwascentralrs1057517197
openSNPrs1057517197
23andMers1057517197
23andMe allrs1057517197
SNPshotrs1057517197
SNPdbers1057517197
MSV3drs1057517197
GWAS Ctlgrs1057517197
Max Magnitude0
ClinVar
Risk rs1057517197(-;-)
Alt rs1057517197(-;-)
Reference Rs1057517197(T;T)
Significance Probable-Pathogenic
Disease Niemann-Pick disease type C1
Variation info
Gene NPC1
CLNDBN Niemann-Pick disease type C1
Reversed 1
HGVS NC_000018.9:g.21125110delA
CLNSRC
CLNACC RCV000410469.1,