rs869312136

Orientation

minus

Stabilized

minus

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

Make rs869312136(A;G)

Make rs869312136(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

101407806

Gene	GLA, HNRNPH2, RPL36A-HNRNPH2

is a	snp
is	mentioned by
dbSNP	rs869312136
dbSNP (classic)	rs869312136
ClinGen	rs869312136
ebi	rs869312136
HLI	rs869312136
Exac	rs869312136
Gnomad	rs869312136
Varsome	rs869312136
LitVar	rs869312136
Map	rs869312136
PheGenI	rs869312136
Biobank	rs869312136
1000 genomes	rs869312136
hgdp	rs869312136
ensembl	rs869312136
geneview	rs869312136
scholar	rs869312136
google	rs869312136
pharmgkb	rs869312136
gwascentral	rs869312136
openSNP	rs869312136
23andMe	rs869312136
SNPshot	rs869312136
SNPdbe	rs869312136
MSV3d	rs869312136
GWAS Ctlg	rs869312136

Max Magnitude

0

ClinVar
Risk	rs869312136(G;G)
Alt	rs869312136(G;G)
Reference	Rs869312136(A;A)
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.100662794T>C
CLNSRC
CLNACC	RCV000208990.1, RCV000209255.1,