rs869312157

Orientation

minus

Stabilized

minus

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

Make rs869312157(C;C)

Make rs869312157(C;T)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

101398422

Gene	GLA, RPL36A-HNRNPH2

is a	snp
is	mentioned by
dbSNP	rs869312157
dbSNP (classic)	rs869312157
ClinGen	rs869312157
ebi	rs869312157
HLI	rs869312157
Exac	rs869312157
Gnomad	rs869312157
Varsome	rs869312157
LitVar	rs869312157
Map	rs869312157
PheGenI	rs869312157
Biobank	rs869312157
1000 genomes	rs869312157
hgdp	rs869312157
ensembl	rs869312157
geneview	rs869312157
scholar	rs869312157
google	rs869312157
pharmgkb	rs869312157
gwascentral	rs869312157
openSNP	rs869312157
23andMe	rs869312157
SNPshot	rs869312157
SNPdbe	rs869312157
MSV3d	rs869312157
GWAS Ctlg	rs869312157

Max Magnitude

0

ClinVar
Risk	rs869312157(C;C)
Alt	rs869312157(C;C)
Reference	Rs869312157(T;T)
Significance	Drug-response
Disease	Deoxygalactonojirimycin response Fabry disease
Variation	info
Gene	RPL36A-HNRNPH2 GLA
CLNDBN	Deoxygalactonojirimycin response Fabry disease
Reversed	1
HGVS	NC_000023.10:g.100653410A>G
CLNSRC
CLNACC	RCV000208961.1, RCV000209520.1,