rs104894851

Orientation

minus

Stabilized

minus

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

Make rs104894851(A;A)

Make rs104894851(A;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

101398920

Gene	GLA, RPL36A-HNRNPH2

is a	snp
is	mentioned by
dbSNP	rs104894851
dbSNP (classic)	rs104894851
ClinGen	rs104894851
ebi	rs104894851
HLI	rs104894851
Exac	rs104894851
Gnomad	rs104894851
Varsome	rs104894851
LitVar	rs104894851
Map	rs104894851
PheGenI	rs104894851
Biobank	rs104894851
1000 genomes	rs104894851
hgdp	rs104894851
ensembl	rs104894851
geneview	rs104894851
scholar	rs104894851
google	rs104894851
pharmgkb	rs104894851
gwascentral	rs104894851
openSNP	rs104894851
23andMe	rs104894851
SNPshot	rs104894851
SNPdbe	rs104894851
MSV3d	rs104894851
GWAS Ctlg	rs104894851

Max Magnitude

0

OMIM	300644
Desc
Variant	0058
Related	also

ClinVar
Risk	rs104894851(A;A)
Alt	rs104894851(A;A)
Reference	Rs104894851(C;C)
Significance	Pathogenic
Disease	Fabry disease
Variation	info
Gene	RPL36A-HNRNPH2 GLA
CLNDBN	Fabry disease
Reversed	1
HGVS	NC_000023.10:g.100653908G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011517.6,