rs104894714

Orientation

minus

Stabilized

minus

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

Make rs104894714(C;T)

Make rs104894714(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

40395495

Gene

PRX

is a	snp
is	mentioned by
dbSNP	rs104894714
dbSNP (classic)	rs104894714
ClinGen	rs104894714
ebi	rs104894714
HLI	rs104894714
Exac	rs104894714
Gnomad	rs104894714
Varsome	rs104894714
LitVar	rs104894714
Map	rs104894714
PheGenI	rs104894714
Biobank	rs104894714
1000 genomes	rs104894714
hgdp	rs104894714
ensembl	rs104894714
geneview	rs104894714
scholar	rs104894714
google	rs104894714
pharmgkb	rs104894714
gwascentral	rs104894714
openSNP	rs104894714
23andMe	rs104894714
SNPshot	rs104894714
SNPdbe	rs104894714
MSV3d	rs104894714
GWAS Ctlg	rs104894714

Max Magnitude

0

OMIM	605725
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894714(T;T)
Alt	rs104894714(T;T)
Reference	Rs104894714(C;C)
Significance	Pathogenic
Disease	Autosomal recessive Dejerine-Sottas syndrome Charcot-Marie-Tooth disease not provided Charcot-Marie-Tooth disease
Variation	info
Gene	PRX
CLNDBN	Autosomal recessive Dejerine-Sottas syndrome Charcot-Marie-Tooth disease, demyelinating, type 4f not provided Charcot-Marie-Tooth disease, type IV
Reversed	1
HGVS	NC_000019.9:g.40901402G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005053.4, RCV000201141.1, RCV000236836.1, RCV000458979.1,