rs1057518957

Orientation

plus

Stabilized

plus

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

Make rs1057518957(G;T)

Make rs1057518957(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

232535143

Gene

CHRND

is a	snp
is	mentioned by
dbSNP	rs1057518957
dbSNP (classic)	rs1057518957
ClinGen	rs1057518957
ebi	rs1057518957
HLI	rs1057518957
Exac	rs1057518957
Gnomad	rs1057518957
Varsome	rs1057518957
LitVar	rs1057518957
Map	rs1057518957
PheGenI	rs1057518957
Biobank	rs1057518957
1000 genomes	rs1057518957
hgdp	rs1057518957
ensembl	rs1057518957
geneview	rs1057518957
scholar	rs1057518957
google	rs1057518957
pharmgkb	rs1057518957
gwascentral	rs1057518957
openSNP	rs1057518957
23andMe	rs1057518957
SNPshot	rs1057518957
SNPdbe	rs1057518957
MSV3d	rs1057518957
GWAS Ctlg	rs1057518957

Max Magnitude

0

ClinVar
Risk	rs1057518957(T;T)
Alt	rs1057518957(T;T)
Reference	Rs1057518957(G;G)
Significance	Probable-Pathogenic
Disease	Breathing dysregulation Dyspnea Muscle weakness Ptosis
Variation	info
Gene	CHRND
CLNDBN	Breathing dysregulation Dyspnea Muscle weakness Ptosis
Reversed	0
HGVS	NC_000002.11:g.233399853G>T
CLNSRC
CLNACC	RCV000414846.1,