rs1057518755

Orientation

plus

Stabilized

plus

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

Make rs1057518755(-;CAAA)

Make rs1057518755(CAAA;CAAA)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

21467527

Gene

PYROXD1

is a	snp
is	mentioned by
dbSNP	rs1057518755
dbSNP (classic)	rs1057518755
ClinGen	rs1057518755
ebi	rs1057518755
HLI	rs1057518755
Exac	rs1057518755
Gnomad	rs1057518755
Varsome	rs1057518755
LitVar	rs1057518755
Map	rs1057518755
PheGenI	rs1057518755
Biobank	rs1057518755
1000 genomes	rs1057518755
hgdp	rs1057518755
ensembl	rs1057518755
geneview	rs1057518755
scholar	rs1057518755
google	rs1057518755
pharmgkb	rs1057518755
gwascentral	rs1057518755
openSNP	rs1057518755
23andMe	rs1057518755
SNPshot	rs1057518755
SNPdbe	rs1057518755
MSV3d	rs1057518755
GWAS Ctlg	rs1057518755

Max Magnitude

0

ClinVar
Risk	rs1057518755(CAAA;CAAA)
Alt	rs1057518755(CAAA;CAAA)
Reference	Rs1057518755(-;-)
Significance	Pathogenic
Disease	Myopathy
Variation	info
Gene	PYROXD1
CLNDBN	Myopathy, myofibrillar, 8
Reversed	0
HGVS	NC_000012.11:g.21620458_21620461dupCAAA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000412529.1,