rs121909770
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs121909770(A;A) |
Make rs121909770(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 60648826 |
Gene | SIX1 |
is a | snp |
is | mentioned by |
dbSNP | rs121909770 |
dbSNP (classic) | rs121909770 |
ClinGen | rs121909770 |
ebi | rs121909770 |
HLI | rs121909770 |
Exac | rs121909770 |
Gnomad | rs121909770 |
Varsome | rs121909770 |
LitVar | rs121909770 |
Map | rs121909770 |
PheGenI | rs121909770 |
Biobank | rs121909770 |
1000 genomes | rs121909770 |
hgdp | rs121909770 |
ensembl | rs121909770 |
geneview | rs121909770 |
scholar | rs121909770 |
rs121909770 | |
pharmgkb | rs121909770 |
gwascentral | rs121909770 |
openSNP | rs121909770 |
23andMe | rs121909770 |
SNPshot | rs121909770 |
SNPdbe | rs121909770 |
MSV3d | rs121909770 |
GWAS Ctlg | rs121909770 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121909770(A;A) |
Alt | rs121909770(A;A) |
Reference | Rs121909770(T;T) |
Significance | Pathogenic |
Disease | Branchiootic syndrome 3 |
Variation | info |
Gene | SIX1 |
CLNDBN | Branchiootic syndrome 3 |
Reversed | 1 |
HGVS | NC_000014.8:g.61115544A>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000008809.3, |