rs148642312
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs148642312(A;A) |
Make rs148642312(A;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 7 |
Position | 5721061 |
Gene | RNF216 |
is a | snp |
is | mentioned by |
dbSNP | rs148642312 |
dbSNP (classic) | rs148642312 |
ClinGen | rs148642312 |
ebi | rs148642312 |
HLI | rs148642312 |
Exac | rs148642312 |
Gnomad | rs148642312 |
Varsome | rs148642312 |
LitVar | rs148642312 |
Map | rs148642312 |
PheGenI | rs148642312 |
Biobank | rs148642312 |
1000 genomes | rs148642312 |
hgdp | rs148642312 |
ensembl | rs148642312 |
geneview | rs148642312 |
scholar | rs148642312 |
rs148642312 | |
pharmgkb | rs148642312 |
gwascentral | rs148642312 |
openSNP | rs148642312 |
23andMe | rs148642312 |
SNPshot | rs148642312 |
SNPdbe | rs148642312 |
MSV3d | rs148642312 |
GWAS Ctlg | rs148642312 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs148642312(A;A) rs148642312(C;C) |
Alt | rs148642312(A;A) rs148642312(C;C) |
Reference | Rs148642312(T;T) |
Significance | Pathogenic |
Disease | Gordon Holmes syndrome |
Variation | info |
Gene | RNF216 |
CLNDBN | Gordon Holmes syndrome |
Reversed | 0 |
HGVS | NC_000007.13:g.5760692T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000180795.2, |