rs104894830

Orientation

minus

Stabilized

minus

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

Make rs104894830(A;G)

Make rs104894830(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

101398483

Gene	GLA, RPL36A-HNRNPH2

is a	snp
is	mentioned by
dbSNP	rs104894830
dbSNP (classic)	rs104894830
ClinGen	rs104894830
ebi	rs104894830
HLI	rs104894830
Exac	rs104894830
Gnomad	rs104894830
Varsome	rs104894830
LitVar	rs104894830
Map	rs104894830
PheGenI	rs104894830
Biobank	rs104894830
1000 genomes	rs104894830
hgdp	rs104894830
ensembl	rs104894830
geneview	rs104894830
scholar	rs104894830
google	rs104894830
pharmgkb	rs104894830
gwascentral	rs104894830
openSNP	rs104894830
23andMe	rs104894830
SNPshot	rs104894830
SNPdbe	rs104894830
MSV3d	rs104894830
GWAS Ctlg	rs104894830

Max Magnitude

0

OMIM	300644
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104894830(G;G)
Alt	rs104894830(G;G)
Reference	Rs104894830(A;A)
Significance	Pathogenic
Disease	Fabry disease Fabry disease
Variation	info
Gene	RPL36A-HNRNPH2 GLA
CLNDBN	Fabry disease, cardiac variant Fabry disease
Reversed	1
HGVS	NC_000023.10:g.100653471T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011464.5, RCV000179267.2,