rs104894500

Orientation

minus

Stabilized

minus

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

Make rs104894500(C;T)

Make rs104894500(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

55224004

Gene

RAB27A

is a	snp
is	mentioned by
dbSNP	rs104894500
dbSNP (classic)	rs104894500
ClinGen	rs104894500
ebi	rs104894500
HLI	rs104894500
Exac	rs104894500
Gnomad	rs104894500
Varsome	rs104894500
LitVar	rs104894500
Map	rs104894500
PheGenI	rs104894500
Biobank	rs104894500
1000 genomes	rs104894500
hgdp	rs104894500
ensembl	rs104894500
geneview	rs104894500
scholar	rs104894500
google	rs104894500
pharmgkb	rs104894500
gwascentral	rs104894500
openSNP	rs104894500
23andMe	rs104894500
SNPshot	rs104894500
SNPdbe	rs104894500
MSV3d	rs104894500
GWAS Ctlg	rs104894500

Max Magnitude

0

OMIM	603868
Desc
Variant	0009
Related	also

ClinVar
Risk	rs104894500(T;T)
Alt	rs104894500(T;T)
Reference	Rs104894500(C;C)
Significance	Pathogenic
Disease	Griscelli syndrome type 2
Variation	info
Gene	RAB27A
CLNDBN	Griscelli syndrome type 2
Reversed	1
HGVS	NC_000015.9:g.55516202G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006356.2,