rs104894828

Orientation

minus

Stabilized

minus

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

Make rs104894828(A;A)

Make rs104894828(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

101398467

Gene	GLA, RPL36A-HNRNPH2

is a	snp
is	mentioned by
dbSNP	rs104894828
dbSNP (classic)	rs104894828
ClinGen	rs104894828
ebi	rs104894828
HLI	rs104894828
Exac	rs104894828
Gnomad	rs104894828
Varsome	rs104894828
LitVar	rs104894828
Map	rs104894828
PheGenI	rs104894828
Biobank	rs104894828
1000 genomes	rs104894828
hgdp	rs104894828
ensembl	rs104894828
geneview	rs104894828
scholar	rs104894828
google	rs104894828
pharmgkb	rs104894828
gwascentral	rs104894828
openSNP	rs104894828
23andMe	rs104894828
SNPshot	rs104894828
SNPdbe	rs104894828
MSV3d	rs104894828
GWAS Ctlg	rs104894828

Max Magnitude

0

OMIM	300644
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894828(A;A) rs104894828(T;T)
Alt	rs104894828(A;A) rs104894828(T;T)
Reference	Rs104894828(G;G)
Significance	Pathogenic
Disease	Fabry disease Fabry disease Cardiovascular phenotype
Variation	info
Gene	RPL36A-HNRNPH2 GLA
CLNDBN	Fabry disease, cardiac variant Fabry disease Cardiovascular phenotype
Reversed	1
HGVS	NC_000023.10:g.100653455C>T
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011461.2, RCV000011462.7, RCV000244581.1,