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

rs727502866

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727502866(A;A)
Make rs727502866(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position15637789
GeneDTNBP1
is asnp
is mentioned by
dbSNPrs727502866
ebirs727502866
HLIrs727502866
Exacrs727502866
Varsomers727502866
Maprs727502866
PheGenIrs727502866
hapmaprs727502866
1000 genomesrs727502866
hgdprs727502866
ensemblrs727502866
gopubmedrs727502866
geneviewrs727502866
scholarrs727502866
googlers727502866
pharmgkbrs727502866
gwascentralrs727502866
openSNPrs727502866
23andMers727502866
23andMe allrs727502866
SNP Nexus

SNPshotrs727502866
SNPdbers727502866
MSV3drs727502866
GWAS Ctlgrs727502866
Max Magnitude0
ClinVar
Risk rs727502866(A;A)
Alt rs727502866(A;A)
Reference rs727502866(G;G)
Significance Pathogenic
Disease Hermansky-Pudlak syndrome 7 Hermansky-Pudlak syndrome 1
Variation info
Gene DTNBP1
CLNDBN Hermansky-Pudlak syndrome 7 Hermansky-Pudlak syndrome 1
Reversed 1
HGVS NC_000006.11:g.15638020C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000150041.3, RCV000202442.1,