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rs201348482

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201348482(A;A)
Make rs201348482(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position45603107
GenePLDN
is asnp
is mentioned by
dbSNPrs201348482
ebirs201348482
HLIrs201348482
Exacrs201348482
Varsomers201348482
Maprs201348482
PheGenIrs201348482
hapmaprs201348482
1000 genomesrs201348482
hgdprs201348482
ensemblrs201348482
gopubmedrs201348482
geneviewrs201348482
scholarrs201348482
googlers201348482
pharmgkbrs201348482
gwascentralrs201348482
openSNPrs201348482
23andMers201348482
23andMe allrs201348482
SNP Nexus

SNPshotrs201348482
SNPdbers201348482
MSV3drs201348482
GWAS Ctlgrs201348482
Max Magnitude0
ClinVar
Risk rs201348482(A;A)
Alt rs201348482(A;A)
Reference rs201348482(G;G)
Significance Pathogenic
Disease Hermansky-Pudlak syndrome 9
Variation info
Gene BLOC1S6
CLNDBN Hermansky-Pudlak syndrome 9
Reversed 1
HGVS NC_000015.9:g.45895305C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023365.3,