rs606231120
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs606231120(A;A) |
Make rs606231120(A;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 4 |
Position | 43020345 |
Gene | GRXCR1 |
is a | snp |
is | mentioned by |
dbSNP | rs606231120 |
dbSNP (classic) | rs606231120 |
ClinGen | rs606231120 |
ebi | rs606231120 |
HLI | rs606231120 |
Exac | rs606231120 |
Gnomad | rs606231120 |
Varsome | rs606231120 |
LitVar | rs606231120 |
Map | rs606231120 |
PheGenI | rs606231120 |
Biobank | rs606231120 |
1000 genomes | rs606231120 |
hgdp | rs606231120 |
ensembl | rs606231120 |
geneview | rs606231120 |
scholar | rs606231120 |
rs606231120 | |
pharmgkb | rs606231120 |
gwascentral | rs606231120 |
openSNP | rs606231120 |
23andMe | rs606231120 |
SNPshot | rs606231120 |
SNPdbe | rs606231120 |
MSV3d | rs606231120 |
GWAS Ctlg | rs606231120 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231120(A;A) rs606231120(T;T) |
Alt | rs606231120(A;A) rs606231120(T;T) |
Reference | Rs606231120(C;C) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | GRXCR1 |
CLNDBN | Deafness, autosomal recessive 25 |
Reversed | 0 |
HGVS | NC_000004.11:g.43022362C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000216.2, |