Have questions? Visit https://www.reddit.com/r/SNPedia

rs104893945

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893945(C;T)
Make rs104893945(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position15627391
GeneDTNBP1
is asnp
is mentioned by
dbSNPrs104893945
ebirs104893945
HLIrs104893945
Exacrs104893945
Varsomers104893945
Maprs104893945
PheGenIrs104893945
hapmaprs104893945
1000 genomesrs104893945
hgdprs104893945
ensemblrs104893945
gopubmedrs104893945
geneviewrs104893945
scholarrs104893945
googlers104893945
pharmgkbrs104893945
gwascentralrs104893945
openSNPrs104893945
23andMers104893945
23andMe allrs104893945
SNP Nexus

SNPshotrs104893945
SNPdbers104893945
MSV3drs104893945
GWAS Ctlgrs104893945
Max Magnitude0
OMIM607145
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104893945(T;T)
Alt rs104893945(T;T)
Reference rs104893945(C;C)
Significance Pathogenic
Disease Hermansky-Pudlak syndrome 7
Variation info
Gene DTNBP1
CLNDBN Hermansky-Pudlak syndrome 7
Reversed 1
HGVS NC_000006.11:g.15627622G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003601.2,