rs104894715

Orientation

minus

Stabilized

minus

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

Make rs104894715(C;T)

Make rs104894715(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

40397250

Gene

PRX

is a	snp
is	mentioned by
dbSNP	rs104894715
dbSNP (classic)	rs104894715
ClinGen	rs104894715
ebi	rs104894715
HLI	rs104894715
Exac	rs104894715
Gnomad	rs104894715
Varsome	rs104894715
LitVar	rs104894715
Map	rs104894715
PheGenI	rs104894715
Biobank	rs104894715
1000 genomes	rs104894715
hgdp	rs104894715
ensembl	rs104894715
geneview	rs104894715
scholar	rs104894715
google	rs104894715
pharmgkb	rs104894715
gwascentral	rs104894715
openSNP	rs104894715
23andMe	rs104894715
SNPshot	rs104894715
SNPdbe	rs104894715
MSV3d	rs104894715
GWAS Ctlg	rs104894715

GMAF

0.0004591

Max Magnitude

0

OMIM	605725
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894715(G;G) rs104894715(T;T)
Alt	rs104894715(G;G) rs104894715(T;T)
Reference	Rs104894715(C;C)
Significance	Pathogenic
Disease	Autosomal recessive Dejerine-Sottas syndrome
Variation	info
Gene	PRX
CLNDBN	Autosomal recessive Dejerine-Sottas syndrome
Reversed	1
HGVS	NC_000019.9:g.40903157G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005055.3,