rs786205075
From SNPedia
Merged into | rs767004810 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GGGAGCCACGAA;GGGAGCCACGAA) | 0 | common in clinvar |
Make rs786205075(-;-) |
Make rs786205075(-;AGCCACGAAGGG) |
Make rs786205075(AGCCACGAAGGG;AGCCACGAAGGG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 235401556 |
Gene | TBCE |
is a | snp |
is | mentioned by |
dbSNP | rs786205075 |
dbSNP (classic) | rs786205075 |
ClinGen | rs786205075 |
ebi | rs786205075 |
HLI | rs786205075 |
Exac | rs786205075 |
Gnomad | rs786205075 |
Varsome | rs786205075 |
LitVar | rs786205075 |
Map | rs786205075 |
PheGenI | rs786205075 |
Biobank | rs786205075 |
1000 genomes | rs786205075 |
hgdp | rs786205075 |
ensembl | rs786205075 |
geneview | rs786205075 |
scholar | rs786205075 |
rs786205075 | |
pharmgkb | rs786205075 |
gwascentral | rs786205075 |
openSNP | rs786205075 |
23andMe | rs786205075 |
SNPshot | rs786205075 |
SNPdbe | rs786205075 |
MSV3d | rs786205075 |
GWAS Ctlg | rs786205075 |
Status | Merged into rs767004810 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs786205075(GGGAGCCACGAA;GGGAGCCACGAA) |
Significance | Pathogenic |
Disease | Hypoparathyroidism retardation dysmorphism syndrome Kenny-Caffey syndrome type 1 not provided |
Variation | info |
Gene | TBCE |
CLNDBN | Hypoparathyroidism retardation dysmorphism syndrome Kenny-Caffey syndrome type 1 not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.235564872_235564883delGCCACGAAGGGA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005608.3, RCV000191990.2, RCV000224858.1, |