rs869312164

Orientation

minus

Stabilized

minus

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

Make rs869312164(C;C)

Make rs869312164(C;G)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

101397975

Gene	GLA, RPL36A-HNRNPH2

is a	snp
is	mentioned by
dbSNP	rs869312164
dbSNP (classic)	rs869312164
ClinGen	rs869312164
ebi	rs869312164
HLI	rs869312164
Exac	rs869312164
Gnomad	rs869312164
Varsome	rs869312164
LitVar	rs869312164
Map	rs869312164
PheGenI	rs869312164
Biobank	rs869312164
1000 genomes	rs869312164
hgdp	rs869312164
ensembl	rs869312164
geneview	rs869312164
scholar	rs869312164
google	rs869312164
pharmgkb	rs869312164
gwascentral	rs869312164
openSNP	rs869312164
23andMe	rs869312164
SNPshot	rs869312164
SNPdbe	rs869312164
MSV3d	rs869312164
GWAS Ctlg	rs869312164

Max Magnitude

0

ClinVar
Risk	rs869312164(C;C)
Alt	rs869312164(C;C)
Reference	Rs869312164(G;G)
Significance	Drug-response
Disease	Fabry disease Deoxygalactonojirimycin response
Variation	info
Gene	RPL36A-HNRNPH2 GLA
CLNDBN	Fabry disease Deoxygalactonojirimycin response
Reversed	1
HGVS	NC_000023.10:g.100652963C>G
CLNSRC
CLNACC	RCV000209196.1, RCV000209582.1,