rs1057518940

Orientation

plus

Stabilized

plus

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

Make rs1057518940(A;A)

Make rs1057518940(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

38499718

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs1057518940
dbSNP (classic)	rs1057518940
ClinGen	rs1057518940
ebi	rs1057518940
HLI	rs1057518940
Exac	rs1057518940
Gnomad	rs1057518940
Varsome	rs1057518940
LitVar	rs1057518940
Map	rs1057518940
PheGenI	rs1057518940
Biobank	rs1057518940
1000 genomes	rs1057518940
hgdp	rs1057518940
ensembl	rs1057518940
geneview	rs1057518940
scholar	rs1057518940
google	rs1057518940
pharmgkb	rs1057518940
gwascentral	rs1057518940
openSNP	rs1057518940
23andMe	rs1057518940
SNPshot	rs1057518940
SNPdbe	rs1057518940
MSV3d	rs1057518940
GWAS Ctlg	rs1057518940

Max Magnitude

0

ClinVar
Risk	rs1057518940(A;A)
Alt	rs1057518940(A;A)
Reference	Rs1057518940(G;G)
Significance	Pathogenic
Disease	Congenital contracture Delayed gross motor development Proximal amyotrophy Short stature
Variation	info
Gene	RYR1
CLNDBN	Congenital contracture Delayed gross motor development Proximal amyotrophy Short stature
Reversed	0
HGVS	NC_000019.9:g.38990358G>A
CLNSRC
CLNACC	RCV000414976.1,