rs1057518839

Orientation

minus

Stabilized

minus

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

Make rs1057518839(G;G)

Make rs1057518839(G;T)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

161305924

Gene

MPZ

is a	snp
is	mentioned by
dbSNP	rs1057518839
dbSNP (classic)	rs1057518839
ClinGen	rs1057518839
ebi	rs1057518839
HLI	rs1057518839
Exac	rs1057518839
Gnomad	rs1057518839
Varsome	rs1057518839
LitVar	rs1057518839
Map	rs1057518839
PheGenI	rs1057518839
Biobank	rs1057518839
1000 genomes	rs1057518839
hgdp	rs1057518839
ensembl	rs1057518839
geneview	rs1057518839
scholar	rs1057518839
google	rs1057518839
pharmgkb	rs1057518839
gwascentral	rs1057518839
openSNP	rs1057518839
23andMe	rs1057518839
SNPshot	rs1057518839
SNPdbe	rs1057518839
MSV3d	rs1057518839
GWAS Ctlg	rs1057518839

Max Magnitude

0

ClinVar
Risk	rs1057518839(G;G)
Alt	rs1057518839(G;G)
Reference	Rs1057518839(T;T)
Significance	Probable-Pathogenic
Disease	EMG: neuropathic changes Limb muscle weakness Tremor Sensorimotor neuropathy
Variation	info
Gene	MPZ
CLNDBN	EMG: neuropathic changes Limb muscle weakness Tremor Sensorimotor neuropathy
Reversed	1
HGVS	NC_000001.10:g.161275714A>C
CLNSRC
CLNACC	RCV000414872.1, RCV000415393.1,