rs121909116

Orientation

plus

Stabilized

plus

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

Make rs121909116(A;A)

Make rs121909116(A;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

150510989

Gene

ECM1

is a	snp
is	mentioned by
dbSNP	rs121909116
dbSNP (classic)	rs121909116
ClinGen	rs121909116
ebi	rs121909116
HLI	rs121909116
Exac	rs121909116
Gnomad	rs121909116
Varsome	rs121909116
LitVar	rs121909116
Map	rs121909116
PheGenI	rs121909116
Biobank	rs121909116
1000 genomes	rs121909116
hgdp	rs121909116
ensembl	rs121909116
geneview	rs121909116
scholar	rs121909116
google	rs121909116
pharmgkb	rs121909116
gwascentral	rs121909116
openSNP	rs121909116
23andMe	rs121909116
SNPshot	rs121909116
SNPdbe	rs121909116
MSV3d	rs121909116
GWAS Ctlg	rs121909116

Max Magnitude

0

OMIM	602201
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121909116(A;A)
Alt	rs121909116(A;A)
Reference	Rs121909116(T;T)
Significance	Pathogenic
Disease	Lipid proteinosis
Variation	info
Gene	ECM1
CLNDBN	Lipid proteinosis
Reversed	0
HGVS	NC_000001.10:g.150483465T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007902.2,