rs724159987
From SNPedia
Merged into | rs199470469 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(ATTCAAGTAACTTGAA;ATTCAAGTAACTTGAA) | 0 | common in clinvar |
Make rs724159987(-;-) |
Make rs724159987(-;TTCAAGTAACTTGAAA) |
Make rs724159987(TTCAAGTAACTTGAAA;TTCAAGTAACTTGAAA) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 10 |
Position | 75028505 |
Gene | KAT6B, LOC105378361 |
is a | snp |
is | mentioned by |
dbSNP | rs724159987 |
dbSNP (classic) | rs724159987 |
ClinGen | rs724159987 |
ebi | rs724159987 |
HLI | rs724159987 |
Exac | rs724159987 |
Gnomad | rs724159987 |
Varsome | rs724159987 |
LitVar | rs724159987 |
Map | rs724159987 |
PheGenI | rs724159987 |
Biobank | rs724159987 |
1000 genomes | rs724159987 |
hgdp | rs724159987 |
ensembl | rs724159987 |
geneview | rs724159987 |
scholar | rs724159987 |
rs724159987 | |
pharmgkb | rs724159987 |
gwascentral | rs724159987 |
openSNP | rs724159987 |
23andMe | rs724159987 |
SNPshot | rs724159987 |
SNPdbe | rs724159987 |
MSV3d | rs724159987 |
GWAS Ctlg | rs724159987 |
Status | Merged into rs199470469 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs724159987(ATTCAAGTAACTTGAA;ATTCAAGTAACTTGAA) |
Significance | Pathogenic |
Disease | Genitopatellar syndrome not provided |
Variation | info |
Gene | KAT6B |
CLNDBN | Genitopatellar syndrome not provided |
Reversed | 0 |
HGVS | NC_000010.10:g.76788263_76788278del16 |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023491.4, RCV000128644.1, |