rs1057518958

Orientation

plus

Stabilized

plus

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

Make rs1057518958(-;-)

Make rs1057518958(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

232531353

Gene

CHRND

is a	snp
is	mentioned by
dbSNP	rs1057518958
dbSNP (classic)	rs1057518958
ClinGen	rs1057518958
ebi	rs1057518958
HLI	rs1057518958
Exac	rs1057518958
Gnomad	rs1057518958
Varsome	rs1057518958
LitVar	rs1057518958
Map	rs1057518958
PheGenI	rs1057518958
Biobank	rs1057518958
1000 genomes	rs1057518958
hgdp	rs1057518958
ensembl	rs1057518958
geneview	rs1057518958
scholar	rs1057518958
google	rs1057518958
pharmgkb	rs1057518958
gwascentral	rs1057518958
openSNP	rs1057518958
23andMe	rs1057518958
SNPshot	rs1057518958
SNPdbe	rs1057518958
MSV3d	rs1057518958
GWAS Ctlg	rs1057518958

Max Magnitude

0

ClinVar
Risk	rs1057518958(-;-)
Alt	rs1057518958(-;-)
Reference	Rs1057518958(T;T)
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.233396063delT
CLNSRC
CLNACC	RCV000415166.1,