rs397507168

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	3	Carrier of a Hermansky-Pudlak syndrome 3 mutation

Make rs397507168(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

149163840

Gene

CP, HPS3

is a	snp
is	mentioned by
dbSNP	rs397507168
dbSNP (classic)	rs397507168
ClinGen	rs397507168
ebi	rs397507168
HLI	rs397507168
Exac	rs397507168
Gnomad	rs397507168
Varsome	rs397507168
LitVar	rs397507168
Map	rs397507168
PheGenI	rs397507168
Biobank	rs397507168
1000 genomes	rs397507168
hgdp	rs397507168
ensembl	rs397507168
geneview	rs397507168
scholar	rs397507168
google	rs397507168
pharmgkb	rs397507168
gwascentral	rs397507168
openSNP	rs397507168
23andMe	rs397507168
SNPshot	rs397507168
SNPdbe	rs397507168
MSV3d	rs397507168
GWAS Ctlg	rs397507168

Max Magnitude

3

aka c.2482-2A>G

ClinVar
Risk	rs397507168(G;G)
Alt	rs397507168(G;G)
Reference	Rs397507168(A;A)
Significance	Pathogenic
Disease	Hermansky-Pudlak syndrome 3
Variation	info
Gene	HPS3 CP
CLNDBN	Hermansky-Pudlak syndrome 3
Reversed	0
HGVS	NC_000003.11:g.148881627A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004874.5,