rs121909494
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121909494(C;T) |
Make rs121909494(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 150470381 |
Gene | MAMLD1 |
is a | snp |
is | mentioned by |
dbSNP | rs121909494 |
dbSNP (classic) | rs121909494 |
ClinGen | rs121909494 |
ebi | rs121909494 |
HLI | rs121909494 |
Exac | rs121909494 |
Gnomad | rs121909494 |
Varsome | rs121909494 |
LitVar | rs121909494 |
Map | rs121909494 |
PheGenI | rs121909494 |
Biobank | rs121909494 |
1000 genomes | rs121909494 |
hgdp | rs121909494 |
ensembl | rs121909494 |
geneview | rs121909494 |
scholar | rs121909494 |
rs121909494 | |
pharmgkb | rs121909494 |
gwascentral | rs121909494 |
openSNP | rs121909494 |
23andMe | rs121909494 |
SNPshot | rs121909494 |
SNPdbe | rs121909494 |
MSV3d | rs121909494 |
GWAS Ctlg | rs121909494 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121909494(T;T) |
Alt | rs121909494(T;T) |
Reference | Rs121909494(C;C) |
Significance | Pathogenic |
Disease | Hypospadias 2 |
Variation | info |
Gene | MAMLD1 |
CLNDBN | Hypospadias 2, X-linked |
Reversed | 0 |
HGVS | NC_000023.10:g.149638653C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012378.22, |