rs1057517475
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs1057517475(-;T) |
Make rs1057517475(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 11 |
Position | 61393975 |
Gene | TMEM216 |
is a | snp |
is | mentioned by |
dbSNP | rs1057517475 |
dbSNP (classic) | rs1057517475 |
ClinGen | rs1057517475 |
ebi | rs1057517475 |
HLI | rs1057517475 |
Exac | rs1057517475 |
Gnomad | rs1057517475 |
Varsome | rs1057517475 |
LitVar | rs1057517475 |
Map | rs1057517475 |
PheGenI | rs1057517475 |
Biobank | rs1057517475 |
1000 genomes | rs1057517475 |
hgdp | rs1057517475 |
ensembl | rs1057517475 |
geneview | rs1057517475 |
scholar | rs1057517475 |
rs1057517475 | |
pharmgkb | rs1057517475 |
gwascentral | rs1057517475 |
openSNP | rs1057517475 |
23andMe | rs1057517475 |
SNPshot | rs1057517475 |
SNPdbe | rs1057517475 |
MSV3d | rs1057517475 |
GWAS Ctlg | rs1057517475 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057517475(T;T) |
Alt | rs1057517475(T;T) |
Reference | Rs1057517475(-;-) |
Significance | Probable-Pathogenic |
Disease | Joubert syndrome 2 Meckel syndrome type 2 |
Variation | info |
Gene | TMEM216 |
CLNDBN | Joubert syndrome 2 Meckel syndrome type 2 |
Reversed | 0 |
HGVS | NC_000011.9:g.61161447dupT |
CLNSRC | |
CLNACC | RCV000410198.1, RCV000412190.1, |