rs193302867
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs193302867(A;A) |
Make rs193302867(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 65870650 |
Gene | EFEMP2 |
is a | snp |
is | mentioned by |
dbSNP | rs193302867 |
dbSNP (classic) | rs193302867 |
ClinGen | rs193302867 |
ebi | rs193302867 |
HLI | rs193302867 |
Exac | rs193302867 |
Gnomad | rs193302867 |
Varsome | rs193302867 |
LitVar | rs193302867 |
Map | rs193302867 |
PheGenI | rs193302867 |
Biobank | rs193302867 |
1000 genomes | rs193302867 |
hgdp | rs193302867 |
ensembl | rs193302867 |
geneview | rs193302867 |
scholar | rs193302867 |
rs193302867 | |
pharmgkb | rs193302867 |
gwascentral | rs193302867 |
openSNP | rs193302867 |
23andMe | rs193302867 |
SNPshot | rs193302867 |
SNPdbe | rs193302867 |
MSV3d | rs193302867 |
GWAS Ctlg | rs193302867 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193302867(A;A) rs193302867(C;C) |
Alt | rs193302867(A;A) rs193302867(C;C) |
Reference | Rs193302867(G;G) |
Significance | Pathogenic |
Disease | Autosomal recessive cutis laxa type IA Autosomal recessive cutis laxa type 1B |
Variation | info |
Gene | EFEMP2 |
CLNDBN | Autosomal recessive cutis laxa type IA Autosomal recessive cutis laxa type 1B |
Reversed | 1 |
HGVS | NC_000011.9:g.65638121C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000032269.1, RCV000033125.5, |