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rs397507169

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs397507169(-;-)
Make rs397507169(-;GA)
Make rs397507169(GA;GA)
ReferenceGRCh38 38.1/141
Chromosome11
Position18285367
GeneHPS5
is asnp
is mentioned by
dbSNPrs397507169
ebirs397507169
HLIrs397507169
Exacrs397507169
Varsomers397507169
Maprs397507169
PheGenIrs397507169
hapmaprs397507169
1000 genomesrs397507169
hgdprs397507169
ensemblrs397507169
gopubmedrs397507169
geneviewrs397507169
scholarrs397507169
googlers397507169
pharmgkbrs397507169
gwascentralrs397507169
openSNPrs397507169
23andMers397507169
23andMe allrs397507169
SNP Nexus

SNPshotrs397507169
SNPdbers397507169
MSV3drs397507169
GWAS Ctlgrs397507169
Max Magnitude0
ClinVar
Risk rs397507169(GA;GA)
Alt rs397507169(GA;GA)
Reference rs397507169(;)
Significance Pathogenic
Disease Hermansky-Pudlak syndrome 5
Variation info
Gene HPS5 SAA1
CLNDBN Hermansky-Pudlak syndrome 5
Reversed 1
HGVS NC_000011.9:g.18306915_18306916dupTC
CLNSRC ClinVar GeneReviews
CLNACC RCV000021031.1,