rs541666319
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs541666319(C;C) |
Make rs541666319(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 61393963 |
Gene | TMEM216 |
is a | snp |
is | mentioned by |
dbSNP | rs541666319 |
dbSNP (classic) | rs541666319 |
ClinGen | rs541666319 |
ebi | rs541666319 |
HLI | rs541666319 |
Exac | rs541666319 |
Gnomad | rs541666319 |
Varsome | rs541666319 |
LitVar | rs541666319 |
Map | rs541666319 |
PheGenI | rs541666319 |
Biobank | rs541666319 |
1000 genomes | rs541666319 |
hgdp | rs541666319 |
ensembl | rs541666319 |
geneview | rs541666319 |
scholar | rs541666319 |
rs541666319 | |
pharmgkb | rs541666319 |
gwascentral | rs541666319 |
openSNP | rs541666319 |
23andMe | rs541666319 |
SNPshot | rs541666319 |
SNPdbe | rs541666319 |
MSV3d | rs541666319 |
GWAS Ctlg | rs541666319 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs541666319(C;C) |
Alt | rs541666319(C;C) |
Reference | Rs541666319(T;T) |
Significance | Probable-Pathogenic |
Disease | Joubert syndrome 2 |
Variation | info |
Gene | TMEM216 |
CLNDBN | Joubert syndrome 2 |
Reversed | 0 |
HGVS | NC_000011.9:g.61161435T>C |
CLNSRC | |
CLNACC | RCV000201571.1, |