rs104894840

Orientation

minus

Stabilized

minus

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

Make rs104894840(A;A)

Make rs104894840(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

101398906

Gene	GLA, RPL36A-HNRNPH2

is a	snp
is	mentioned by
dbSNP	rs104894840
dbSNP (classic)	rs104894840
ClinGen	rs104894840
ebi	rs104894840
HLI	rs104894840
Exac	rs104894840
Gnomad	rs104894840
Varsome	rs104894840
LitVar	rs104894840
Map	rs104894840
PheGenI	rs104894840
Biobank	rs104894840
1000 genomes	rs104894840
hgdp	rs104894840
ensembl	rs104894840
geneview	rs104894840
scholar	rs104894840
google	rs104894840
pharmgkb	rs104894840
gwascentral	rs104894840
openSNP	rs104894840
23andMe	rs104894840
SNPshot	rs104894840
SNPdbe	rs104894840
MSV3d	rs104894840
GWAS Ctlg	rs104894840

Max Magnitude

0

OMIM	300644
Desc
Variant	0019
Related	also

ClinVar
Risk	rs104894840(A;A) rs104894840(C;C)
Alt	rs104894840(A;A) rs104894840(C;C)
Reference	Rs104894840(G;G)
Significance	Drug-response
Disease	Fabry disease Deoxygalactonojirimycin response not provided
Variation	info
Gene	RPL36A-HNRNPH2 GLA
CLNDBN	Fabry disease Deoxygalactonojirimycin response not provided
Reversed	1
HGVS	NC_000023.10:g.100653894C>G; NC_000023.10:g.100653894C>T
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000208950.1, RCV000209334.1, RCV000011478.12, RCV000157898.2,