rs797044972
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GGCTGCCT;GGCTGCCT) | 0 | common in clinvar |
Make rs797044972(-;-) |
Make rs797044972(-;TGCCTGGC) |
Make rs797044972(TGCCTGGC;TGCCTGGC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 40822316 |
Gene | KCNQ4 |
is a | snp |
is | mentioned by |
dbSNP | rs797044972 |
dbSNP (classic) | rs797044972 |
ClinGen | rs797044972 |
ebi | rs797044972 |
HLI | rs797044972 |
Exac | rs797044972 |
Gnomad | rs797044972 |
Varsome | rs797044972 |
LitVar | rs797044972 |
Map | rs797044972 |
PheGenI | rs797044972 |
Biobank | rs797044972 |
1000 genomes | rs797044972 |
hgdp | rs797044972 |
ensembl | rs797044972 |
geneview | rs797044972 |
scholar | rs797044972 |
rs797044972 | |
pharmgkb | rs797044972 |
gwascentral | rs797044972 |
openSNP | rs797044972 |
23andMe | rs797044972 |
SNPshot | rs797044972 |
SNPdbe | rs797044972 |
MSV3d | rs797044972 |
GWAS Ctlg | rs797044972 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044972(-;-) |
Alt | rs797044972(-;-) |
Reference | Rs797044972(GGCTGCCT;GGCTGCCT) |
Significance | Pathogenic |
Disease | DFNA 2 Nonsyndromic Hearing Loss |
Variation | info |
Gene | KCNQ4 |
CLNDBN | DFNA 2 Nonsyndromic Hearing Loss |
Reversed | 0 |
HGVS | NC_000001.10:g.41287988_41287995delTGCCTGGC |
CLNSRC | |
CLNACC | RCV000194638.1, |