rs1057519572

Orientation

plus

Stabilized

plus

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

Make rs1057519572(C;T)

Make rs1057519572(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

10

Position

68197362

Gene

MYPN

is a	snp
is	mentioned by
dbSNP	rs1057519572
dbSNP (classic)	rs1057519572
ClinGen	rs1057519572
ebi	rs1057519572
HLI	rs1057519572
Exac	rs1057519572
Gnomad	rs1057519572
Varsome	rs1057519572
LitVar	rs1057519572
Map	rs1057519572
PheGenI	rs1057519572
Biobank	rs1057519572
1000 genomes	rs1057519572
hgdp	rs1057519572
ensembl	rs1057519572
geneview	rs1057519572
scholar	rs1057519572
google	rs1057519572
pharmgkb	rs1057519572
gwascentral	rs1057519572
openSNP	rs1057519572
23andMe	rs1057519572
SNPshot	rs1057519572
SNPdbe	rs1057519572
MSV3d	rs1057519572
GWAS Ctlg	rs1057519572

Max Magnitude

0

ClinVar
Risk	rs1057519572(T;T)
Alt	rs1057519572(T;T)
Reference	Rs1057519572(C;C)
Significance	Pathogenic
Disease	Nemaline myopathy 11
Variation	info
Gene	MYPN
CLNDBN	Nemaline myopathy 11, autosomal recessive
Reversed	0
HGVS	NC_000010.10:g.69957119C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000417054.1,