rs104894499

Orientation

minus

Stabilized

minus

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

Make rs104894499(C;C)

Make rs104894499(C;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

55223902

Gene

RAB27A

is a	snp
is	mentioned by
dbSNP	rs104894499
dbSNP (classic)	rs104894499
ClinGen	rs104894499
ebi	rs104894499
HLI	rs104894499
Exac	rs104894499
Gnomad	rs104894499
Varsome	rs104894499
LitVar	rs104894499
Map	rs104894499
PheGenI	rs104894499
Biobank	rs104894499
1000 genomes	rs104894499
hgdp	rs104894499
ensembl	rs104894499
geneview	rs104894499
scholar	rs104894499
google	rs104894499
pharmgkb	rs104894499
gwascentral	rs104894499
openSNP	rs104894499
23andMe	rs104894499
SNPshot	rs104894499
SNPdbe	rs104894499
MSV3d	rs104894499
GWAS Ctlg	rs104894499

Max Magnitude

0

OMIM	603868
Desc
Variant	0006
Related	also

ClinVar
Risk	rs104894499(C;C)
Alt	rs104894499(C;C)
Reference	Rs104894499(G;G)
Significance	Pathogenic
Disease	Griscelli syndrome type 2
Variation	info
Gene	RAB27A
CLNDBN	Griscelli syndrome type 2
Reversed	1
HGVS	NC_000015.9:g.55516100C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006353.2,