rs727502866

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs727502866(A;A)

Make rs727502866(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

6

Position

15637789

Gene

DTNBP1

is a	snp
is	mentioned by
dbSNP	rs727502866
dbSNP (classic)	rs727502866
ClinGen	rs727502866
ebi	rs727502866
HLI	rs727502866
Exac	rs727502866
Gnomad	rs727502866
Varsome	rs727502866
LitVar	rs727502866
Map	rs727502866
PheGenI	rs727502866
Biobank	rs727502866
1000 genomes	rs727502866
hgdp	rs727502866
ensembl	rs727502866
geneview	rs727502866
scholar	rs727502866
google	rs727502866
pharmgkb	rs727502866
gwascentral	rs727502866
openSNP	rs727502866
23andMe	rs727502866
SNPshot	rs727502866
SNPdbe	rs727502866
MSV3d	rs727502866
GWAS Ctlg	rs727502866

Max Magnitude

0

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,