rs199473693
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AGGCCTCTGGCACAGAGCCC;AGGCCTCTGGCACAGAGCCC) | 0 | common in clinvar |
(CAGAGCCCAGGCCTCTGGCA;CAGAGCCCAGGCCTCTGGCA) | 0 | common in clinvar |
Make rs199473693(-;-) |
Make rs199473693(-;AGGCCTCTGGCACAGAGCCC) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 150553758 |
Gene | ADAMTSL4, LOC100289061 |
is a | snp |
is | mentioned by |
dbSNP | rs199473693 |
dbSNP (classic) | rs199473693 |
ClinGen | rs199473693 |
ebi | rs199473693 |
HLI | rs199473693 |
Exac | rs199473693 |
Gnomad | rs199473693 |
Varsome | rs199473693 |
LitVar | rs199473693 |
Map | rs199473693 |
PheGenI | rs199473693 |
Biobank | rs199473693 |
1000 genomes | rs199473693 |
hgdp | rs199473693 |
ensembl | rs199473693 |
geneview | rs199473693 |
scholar | rs199473693 |
rs199473693 | |
pharmgkb | rs199473693 |
gwascentral | rs199473693 |
openSNP | rs199473693 |
23andMe | rs199473693 |
SNPshot | rs199473693 |
SNPdbe | rs199473693 |
MSV3d | rs199473693 |
GWAS Ctlg | rs199473693 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199473693(-;-) Rs199473693(CAGAGCCCAGGCCTCTGGCA;CAGAGCCCAGGCCTCTGGCA) |
Alt | rs199473693(-;-) Rs199473693(CAGAGCCCAGGCCTCTGGCA;CAGAGCCCAGGCCTCTGGCA) |
Reference | Rs199473693(AGGCCTCTGGCACAGAGCCC;AGGCCTCTGGCACAGAGCCC) |
Significance | Pathogenic |
Disease | Ectopia lentis et pupillae Ectopia lentis not provided |
Variation | info |
Gene | LOC100289061 ADAMTSL4 |
CLNDBN | Ectopia lentis et pupillae Ectopia lentis, isolated autosomal recessive not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.150526234_150526253del20 |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000032753.4, RCV000032754.5, RCV000336254.2, |