rs281865141
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs281865141(-;-) |
Make rs281865141(-;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 111911665 |
Gene | CRYAB, HSPB2, HSPB2-C11orf52 |
is a | snp |
is | mentioned by |
dbSNP | rs281865141 |
dbSNP (classic) | rs281865141 |
ClinGen | rs281865141 |
ebi | rs281865141 |
HLI | rs281865141 |
Exac | rs281865141 |
Gnomad | rs281865141 |
Varsome | rs281865141 |
LitVar | rs281865141 |
Map | rs281865141 |
PheGenI | rs281865141 |
Biobank | rs281865141 |
1000 genomes | rs281865141 |
hgdp | rs281865141 |
ensembl | rs281865141 |
geneview | rs281865141 |
scholar | rs281865141 |
rs281865141 | |
pharmgkb | rs281865141 |
gwascentral | rs281865141 |
openSNP | rs281865141 |
23andMe | rs281865141 |
SNPshot | rs281865141 |
SNPdbe | rs281865141 |
MSV3d | rs281865141 |
GWAS Ctlg | rs281865141 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281865141(-;-) |
Alt | rs281865141(-;-) |
Reference | Rs281865141(C;C) |
Significance | Pathogenic |
Disease | Alpha-B crystallinopathy |
Variation | info |
Gene | HSPB2-C11orf52 HSPB2 CRYAB |
CLNDBN | Alpha-B crystallinopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.111782389delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000043523.28, |