rs121918162
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121918162(A;A) |
Make rs121918162(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 30998749 |
Gene | RNF135 |
is a | snp |
is | mentioned by |
dbSNP | rs121918162 |
dbSNP (classic) | rs121918162 |
ClinGen | rs121918162 |
ebi | rs121918162 |
HLI | rs121918162 |
Exac | rs121918162 |
Gnomad | rs121918162 |
Varsome | rs121918162 |
LitVar | rs121918162 |
Map | rs121918162 |
PheGenI | rs121918162 |
Biobank | rs121918162 |
1000 genomes | rs121918162 |
hgdp | rs121918162 |
ensembl | rs121918162 |
geneview | rs121918162 |
scholar | rs121918162 |
rs121918162 | |
pharmgkb | rs121918162 |
gwascentral | rs121918162 |
openSNP | rs121918162 |
23andMe | rs121918162 |
SNPshot | rs121918162 |
SNPdbe | rs121918162 |
MSV3d | rs121918162 |
GWAS Ctlg | rs121918162 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918162(A;A) |
Alt | rs121918162(A;A) |
Reference | Rs121918162(G;G) |
Significance | Pathogenic |
Disease | Macrocephaly |
Variation | info |
Gene | RNF135 |
CLNDBN | Macrocephaly, macrosomia, facial dysmorphism syndrome |
Reversed | 0 |
HGVS | NC_000017.10:g.29325767G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000001029.3, |