rs104894497

minus

Geno	Mag	Summary
(C;G)	5	Hemophagocytic Lymphohistiocytosis (possible; see discussion)
(G;G)	0	common in clinvar

Make rs104894497(C;C)

Reference

GRCh38 38.1/141

Chromosome

15

Position

55228693

Gene

RAB27A

is a	snp
is	mentioned by
dbSNP	rs104894497
dbSNP (classic)	rs104894497
ClinGen	rs104894497
ebi	rs104894497
HLI	rs104894497
Exac	rs104894497
Gnomad	rs104894497
Varsome	rs104894497
LitVar	rs104894497
Map	rs104894497
PheGenI	rs104894497
Biobank	rs104894497
1000 genomes	rs104894497
hgdp	rs104894497
ensembl	rs104894497
geneview	rs104894497
scholar	rs104894497
google	rs104894497
pharmgkb	rs104894497
gwascentral	rs104894497
openSNP	rs104894497
23andMe	rs104894497
SNPshot	rs104894497
SNPdbe	rs104894497
MSV3d	rs104894497
GWAS Ctlg	rs104894497

Max Magnitude

5

aka c.259G>C (p.Ala87Pro)

Reported in ClinVar as potentially pathogenic for Griscelli syndrome, while a 2016 publication finds heterozygotes associated with familial hemophagocytic lymphohistiocytosis.[PMID 26880764 ]

23andMe name: i5003825

OMIM	603868
Desc
Variant	0010
Related	also

ClinVar
Risk	rs104894497(A;A) rs104894497(C;C)
Alt	rs104894497(A;A) rs104894497(C;C)
Reference	Rs104894497(G;G)
Significance	Pathogenic
Disease	Griscelli syndrome type 2 not specified
Variation	info
Gene	RAB27A
CLNDBN	Griscelli syndrome type 2 not specified
Reversed	1
HGVS	NC_000015.9:g.55520891C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006357.2, RCV000169674.1,