rs869312138

Orientation

minus

Stabilized

minus

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

Make rs869312138(G;G)

Make rs869312138(G;T)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

101407797

Gene	GLA, HNRNPH2, RPL36A-HNRNPH2

is a	snp
is	mentioned by
dbSNP	rs869312138
dbSNP (classic)	rs869312138
ClinGen	rs869312138
ebi	rs869312138
HLI	rs869312138
Exac	rs869312138
Gnomad	rs869312138
Varsome	rs869312138
LitVar	rs869312138
Map	rs869312138
PheGenI	rs869312138
Biobank	rs869312138
1000 genomes	rs869312138
hgdp	rs869312138
ensembl	rs869312138
geneview	rs869312138
scholar	rs869312138
google	rs869312138
pharmgkb	rs869312138
gwascentral	rs869312138
openSNP	rs869312138
23andMe	rs869312138
SNPshot	rs869312138
SNPdbe	rs869312138
MSV3d	rs869312138
GWAS Ctlg	rs869312138

Max Magnitude

0

ClinVar
Risk	rs869312138(G;G)
Alt	rs869312138(G;G)
Reference	Rs869312138(T;T)
Significance	Drug-response
Disease	Fabry disease Deoxygalactonojirimycin response
Variation	info
Gene	HNRNPH2 RPL36A-HNRNPH2 GLA
CLNDBN	Fabry disease Deoxygalactonojirimycin response
Reversed	1
HGVS	NC_000023.10:g.100662785A>C
CLNSRC
CLNACC	RCV000209353.1, RCV000209629.1,