rs431825171
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AAAGC;AAAGC) | 0 | common in clinvar |
Make rs431825171(-;-) |
Make rs431825171(-;AAAGC) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 45833100 |
Gene | LZTFL1 |
is a | snp |
is | mentioned by |
dbSNP | rs431825171 |
dbSNP (classic) | rs431825171 |
ClinGen | rs431825171 |
ebi | rs431825171 |
HLI | rs431825171 |
Exac | rs431825171 |
Gnomad | rs431825171 |
Varsome | rs431825171 |
LitVar | rs431825171 |
Map | rs431825171 |
PheGenI | rs431825171 |
Biobank | rs431825171 |
1000 genomes | rs431825171 |
hgdp | rs431825171 |
ensembl | rs431825171 |
geneview | rs431825171 |
scholar | rs431825171 |
rs431825171 | |
pharmgkb | rs431825171 |
gwascentral | rs431825171 |
openSNP | rs431825171 |
23andMe | rs431825171 |
SNPshot | rs431825171 |
SNPdbe | rs431825171 |
MSV3d | rs431825171 |
GWAS Ctlg | rs431825171 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs431825171(-;-) |
Alt | rs431825171(-;-) |
Reference | Rs431825171(AAAGC;AAAGC) |
Significance | Pathogenic |
Disease | Bardet-Biedl syndrome 17 |
Variation | info |
Gene | LZTFL1 |
CLNDBN | Bardet-Biedl syndrome 17 |
Reversed | 1 |
HGVS | NC_000003.11:g.45874592_45874596delGCTTT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000032989.7, |