rs312262690
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(T;T) | 0 | common in clinvar |
Make rs312262690(-;C) |
Make rs312262690(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 79984831 |
Gene | ANTXR2 |
is a | snp |
is | mentioned by |
dbSNP | rs312262690 |
dbSNP (classic) | rs312262690 |
ClinGen | rs312262690 |
ebi | rs312262690 |
HLI | rs312262690 |
Exac | rs312262690 |
Gnomad | rs312262690 |
Varsome | rs312262690 |
LitVar | rs312262690 |
Map | rs312262690 |
PheGenI | rs312262690 |
Biobank | rs312262690 |
1000 genomes | rs312262690 |
hgdp | rs312262690 |
ensembl | rs312262690 |
geneview | rs312262690 |
scholar | rs312262690 |
rs312262690 | |
pharmgkb | rs312262690 |
gwascentral | rs312262690 |
openSNP | rs312262690 |
23andMe | rs312262690 |
SNPshot | rs312262690 |
SNPdbe | rs312262690 |
MSV3d | rs312262690 |
GWAS Ctlg | rs312262690 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs312262690(CC;CC) rs312262690(C;C) |
Alt | rs312262690(CC;CC) rs312262690(C;C) |
Reference | Rs312262690(-;-) |
Significance | Pathogenic |
Disease | Hyaline fibromatosis syndrome |
Variation | info |
Gene | ANTXR2 |
CLNDBN | Hyaline fibromatosis syndrome |
Reversed | 1 |
HGVS | NC_000004.11:g.80905986dupG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002722.2, |