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rs1057517149

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517149(-;-)
Make rs1057517149(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23535621
GeneNPC1
is asnp
is mentioned by
dbSNPrs1057517149
dbSNP (old)rs1057517149
ClinGenrs1057517149
ebirs1057517149
HLIrs1057517149
Exacrs1057517149
Gnomadrs1057517149
Varsomers1057517149
Maprs1057517149
PheGenIrs1057517149
Biobankrs1057517149
1000 genomesrs1057517149
hgdprs1057517149
ensemblrs1057517149
gopubmedrs1057517149
geneviewrs1057517149
scholarrs1057517149
googlers1057517149
pharmgkbrs1057517149
gwascentralrs1057517149
openSNPrs1057517149
23andMers1057517149
23andMe allrs1057517149
SNPshotrs1057517149
SNPdbers1057517149
MSV3drs1057517149
GWAS Ctlgrs1057517149
Max Magnitude0
ClinVar
Risk rs1057517149(-;-)
Alt rs1057517149(-;-)
Reference Rs1057517149(A;A)
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.21115585delT
CLNSRC
CLNACC RCV000409812.1,