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rs281865102

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281865102(A;C)
Make rs281865102(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position18292011
GeneHPS5
is asnp
is mentioned by
dbSNPrs281865102
ebirs281865102
HLIrs281865102
Exacrs281865102
Varsomers281865102
Maprs281865102
PheGenIrs281865102
hapmaprs281865102
1000 genomesrs281865102
hgdprs281865102
ensemblrs281865102
gopubmedrs281865102
geneviewrs281865102
scholarrs281865102
googlers281865102
pharmgkbrs281865102
gwascentralrs281865102
openSNPrs281865102
23andMers281865102
23andMe allrs281865102
SNP Nexus

SNPshotrs281865102
SNPdbers281865102
MSV3drs281865102
GWAS Ctlgrs281865102
Max Magnitude0
ClinVar
Risk rs281865102(C;C)
Alt rs281865102(C;C)
Reference rs281865102(A;A)
Significance Pathogenic
Disease Hermansky-Pudlak syndrome 5
Variation info
Gene HPS5
CLNDBN Hermansky-Pudlak syndrome 5
Reversed 0
HGVS NC_000011.9:g.18313558A>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000021027.1,