rs201884120
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs201884120(C;T) |
Make rs201884120(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 70205267 |
Gene | LOC105372180, RTTN |
is a | snp |
is | mentioned by |
dbSNP | rs201884120 |
dbSNP (classic) | rs201884120 |
ClinGen | rs201884120 |
ebi | rs201884120 |
HLI | rs201884120 |
Exac | rs201884120 |
Gnomad | rs201884120 |
Varsome | rs201884120 |
LitVar | rs201884120 |
Map | rs201884120 |
PheGenI | rs201884120 |
Biobank | rs201884120 |
1000 genomes | rs201884120 |
hgdp | rs201884120 |
ensembl | rs201884120 |
geneview | rs201884120 |
scholar | rs201884120 |
rs201884120 | |
pharmgkb | rs201884120 |
gwascentral | rs201884120 |
openSNP | rs201884120 |
23andMe | rs201884120 |
SNPshot | rs201884120 |
SNPdbe | rs201884120 |
MSV3d | rs201884120 |
GWAS Ctlg | rs201884120 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201884120(T;T) |
Alt | rs201884120(T;T) |
Reference | Rs201884120(C;C) |
Significance | Pathogenic |
Disease | MICROCEPHALY not provided |
Variation | info |
Gene | RTTN |
CLNDBN | MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES not provided |
Reversed | 0 |
HGVS | NC_000018.9:g.67872503C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants) |
CLNACC | RCV000030786.4, RCV000059811.1, |
[PMID 22939636] RTTN mutations link primary cilia function to organization of the human cerebral cortex.