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rs281865100

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281865100(-;-)
Make rs281865100(-;AAGCA)
Make rs281865100(AAGCA;AAGCA)
ReferenceGRCh38 38.1/141
Chromosome22
Position26453266
GeneHPS4
is asnp
is mentioned by
dbSNPrs281865100
ebirs281865100
HLIrs281865100
Exacrs281865100
Varsomers281865100
Maprs281865100
PheGenIrs281865100
hapmaprs281865100
1000 genomesrs281865100
hgdprs281865100
ensemblrs281865100
gopubmedrs281865100
geneviewrs281865100
scholarrs281865100
googlers281865100
pharmgkbrs281865100
gwascentralrs281865100
openSNPrs281865100
23andMers281865100
23andMe allrs281865100
SNP Nexus

SNPshotrs281865100
SNPdbers281865100
MSV3drs281865100
GWAS Ctlgrs281865100
Max Magnitude0
ClinVar
Risk rs281865100(AAGCA;AAGCA)
Alt rs281865100(AAGCA;AAGCA)
Reference rs281865100(;)
Significance Pathogenic
Disease Hermansky-Pudlak syndrome 4
Variation info
Gene HPS4
CLNDBN Hermansky-Pudlak syndrome 4
Reversed 1
HGVS NC_000022.10:g.26849233_26849237dupTGCTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000004342.4,