rs1057519571

Orientation

plus

Stabilized

plus

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

Make rs1057519571(A;C)

Make rs1057519571(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

10

Position

68195448

Gene

MYPN

is a	snp
is	mentioned by
dbSNP	rs1057519571
dbSNP (classic)	rs1057519571
ClinGen	rs1057519571
ebi	rs1057519571
HLI	rs1057519571
Exac	rs1057519571
Gnomad	rs1057519571
Varsome	rs1057519571
LitVar	rs1057519571
Map	rs1057519571
PheGenI	rs1057519571
Biobank	rs1057519571
1000 genomes	rs1057519571
hgdp	rs1057519571
ensembl	rs1057519571
geneview	rs1057519571
scholar	rs1057519571
google	rs1057519571
pharmgkb	rs1057519571
gwascentral	rs1057519571
openSNP	rs1057519571
23andMe	rs1057519571
SNPshot	rs1057519571
SNPdbe	rs1057519571
MSV3d	rs1057519571
GWAS Ctlg	rs1057519571

Max Magnitude

0

ClinVar
Risk	rs1057519571(C;C)
Alt	rs1057519571(C;C)
Reference	Rs1057519571(A;A)
Significance	Pathogenic
Disease	Nemaline myopathy 11
Variation	info
Gene	MYPN
CLNDBN	Nemaline myopathy 11, autosomal recessive
Reversed	0
HGVS	NC_000010.10:g.69955205A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000417065.1,