rs104893945

Orientation

minus

Stabilized

minus

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

Make rs104893945(C;T)

Make rs104893945(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

15627391

Gene

DTNBP1

is a	snp
is	mentioned by
dbSNP	rs104893945
dbSNP (classic)	rs104893945
ClinGen	rs104893945
ebi	rs104893945
HLI	rs104893945
Exac	rs104893945
Gnomad	rs104893945
Varsome	rs104893945
LitVar	rs104893945
Map	rs104893945
PheGenI	rs104893945
Biobank	rs104893945
1000 genomes	rs104893945
hgdp	rs104893945
ensembl	rs104893945
geneview	rs104893945
scholar	rs104893945
google	rs104893945
pharmgkb	rs104893945
gwascentral	rs104893945
openSNP	rs104893945
23andMe	rs104893945
SNPshot	rs104893945
SNPdbe	rs104893945
MSV3d	rs104893945
GWAS Ctlg	rs104893945

Max Magnitude

0

OMIM	607145
Desc
Variant	0001
Related	also

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,