rs1057518879

Orientation

plus

Stabilized

plus

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

Make rs1057518879(A;A)

Make rs1057518879(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

11965571

Gene

PLOD1

is a	snp
is	mentioned by
dbSNP	rs1057518879
dbSNP (classic)	rs1057518879
ClinGen	rs1057518879
ebi	rs1057518879
HLI	rs1057518879
Exac	rs1057518879
Gnomad	rs1057518879
Varsome	rs1057518879
LitVar	rs1057518879
Map	rs1057518879
PheGenI	rs1057518879
Biobank	rs1057518879
1000 genomes	rs1057518879
hgdp	rs1057518879
ensembl	rs1057518879
geneview	rs1057518879
scholar	rs1057518879
google	rs1057518879
pharmgkb	rs1057518879
gwascentral	rs1057518879
openSNP	rs1057518879
23andMe	rs1057518879
SNPshot	rs1057518879
SNPdbe	rs1057518879
MSV3d	rs1057518879
GWAS Ctlg	rs1057518879

Max Magnitude

0

ClinVar
Risk	rs1057518879(A;A)
Alt	rs1057518879(A;A)
Reference	Rs1057518879(G;G)
Significance	Pathogenic
Disease	Depressed nasal bridge Generalized hypotonia High palate Joint hypermobility Omphalocele Thoracolumbar scoliosis
Variation	info
Gene	PLOD1
CLNDBN	Depressed nasal bridge Generalized hypotonia High palate Joint hypermobility Omphalocele Thoracolumbar scoliosis
Reversed	0
HGVS	NC_000001.10:g.12025628G>A
CLNSRC
CLNACC	RCV000415262.1,