rs397514673
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | Carrier of a SeSAME syndrome mutation |
(G;G) | 0 | common in clinvar |
Make rs397514673(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 160042009 |
Gene | KCNJ10 |
is a | snp |
is | mentioned by |
dbSNP | rs397514673 |
dbSNP (classic) | rs397514673 |
ClinGen | rs397514673 |
ebi | rs397514673 |
HLI | rs397514673 |
Exac | rs397514673 |
Gnomad | rs397514673 |
Varsome | rs397514673 |
LitVar | rs397514673 |
Map | rs397514673 |
PheGenI | rs397514673 |
Biobank | rs397514673 |
1000 genomes | rs397514673 |
hgdp | rs397514673 |
ensembl | rs397514673 |
geneview | rs397514673 |
scholar | rs397514673 |
rs397514673 | |
pharmgkb | rs397514673 |
gwascentral | rs397514673 |
openSNP | rs397514673 |
23andMe | rs397514673 |
SNPshot | rs397514673 |
SNPdbe | rs397514673 |
MSV3d | rs397514673 |
GWAS Ctlg | rs397514673 |
Max Magnitude | 3 |
aka c.524G>A (p.Arg175Gln or R175Q)
ClinVar | |
---|---|
Risk | rs397514673(A;A) |
Alt | rs397514673(A;A) |
Reference | Rs397514673(G;G) |
Significance | Pathogenic |
Disease | SeSAME syndrome |
Variation | info |
Gene | KCNJ10 |
CLNDBN | SeSAME syndrome |
Reversed | 1 |
HGVS | NC_000001.10:g.160011799C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000034356.3, |