rs28935488

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	6	Fabry disease
(C;T)	3	Carrier of a Fabry disease mutation; X-linked so risk is to sons
(T;T)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

X

Position

101398563

Gene	GLA, RPL36A-HNRNPH2

is a	snp
is	mentioned by
dbSNP	rs28935488
dbSNP (classic)	rs28935488
ClinGen	rs28935488
ebi	rs28935488
HLI	rs28935488
Exac	rs28935488
Gnomad	rs28935488
Varsome	rs28935488
LitVar	rs28935488
Map	rs28935488
PheGenI	rs28935488
Biobank	rs28935488
1000 genomes	rs28935488
hgdp	rs28935488
ensembl	rs28935488
geneview	rs28935488
scholar	rs28935488
google	rs28935488
pharmgkb	rs28935488
gwascentral	rs28935488
openSNP	rs28935488
23andMe	rs28935488
SNPshot	rs28935488
SNPdbe	rs28935488
MSV3d	rs28935488
GWAS Ctlg	rs28935488

Max Magnitude

6

OMIM	300644
Desc
Variant	0023
Related	also

ClinVar
Risk	Rs28935488(C;C) rs28935488(G;G)
Alt	Rs28935488(C;C) rs28935488(G;G)
Reference	Rs28935488(T;T)
Significance	Drug-response
Disease	Fabry disease Deoxygalactonojirimycin response not specified
Variation	info
Gene	RPL36A-HNRNPH2 GLA
CLNDBN	Fabry disease Deoxygalactonojirimycin response not specified
Reversed	1
HGVS	NC_000023.10:g.100653551A>C; NC_000023.10:g.100653551A>G; NC_000023.10:g.100653551A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000209091.1, RCV000209357.1, RCV000011482.9, RCV000378974.1,