rs869312152

Orientation

minus

Stabilized

minus

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

Make rs869312152(A;G)

Make rs869312152(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

101398903

Gene	GLA, RPL36A-HNRNPH2

is a	snp
is	mentioned by
dbSNP	rs869312152
dbSNP (classic)	rs869312152
ClinGen	rs869312152
ebi	rs869312152
HLI	rs869312152
Exac	rs869312152
Gnomad	rs869312152
Varsome	rs869312152
LitVar	rs869312152
Map	rs869312152
PheGenI	rs869312152
Biobank	rs869312152
1000 genomes	rs869312152
hgdp	rs869312152
ensembl	rs869312152
geneview	rs869312152
scholar	rs869312152
google	rs869312152
pharmgkb	rs869312152
gwascentral	rs869312152
openSNP	rs869312152
23andMe	rs869312152
SNPshot	rs869312152
SNPdbe	rs869312152
MSV3d	rs869312152
GWAS Ctlg	rs869312152

Max Magnitude

0

ClinVar
Risk	rs869312152(G;G)
Alt	rs869312152(G;G)
Reference	Rs869312152(A;A)
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.100653891T>C
CLNSRC
CLNACC	RCV000208923.1, RCV000209486.1,