rs1057519573

Orientation

plus

Stabilized

plus

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

Make rs1057519573(C;T)

Make rs1057519573(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

10

Position

68197407

Gene

MYPN

is a	snp
is	mentioned by
dbSNP	rs1057519573
dbSNP (classic)	rs1057519573
ClinGen	rs1057519573
ebi	rs1057519573
HLI	rs1057519573
Exac	rs1057519573
Gnomad	rs1057519573
Varsome	rs1057519573
LitVar	rs1057519573
Map	rs1057519573
PheGenI	rs1057519573
Biobank	rs1057519573
1000 genomes	rs1057519573
hgdp	rs1057519573
ensembl	rs1057519573
geneview	rs1057519573
scholar	rs1057519573
google	rs1057519573
pharmgkb	rs1057519573
gwascentral	rs1057519573
openSNP	rs1057519573
23andMe	rs1057519573
SNPshot	rs1057519573
SNPdbe	rs1057519573
MSV3d	rs1057519573
GWAS Ctlg	rs1057519573

Max Magnitude

0

ClinVar
Risk	rs1057519573(T;T)
Alt	rs1057519573(T;T)
Reference	Rs1057519573(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.69957164C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000417040.1,