rs121909495
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121909495(C;T) |
Make rs121909495(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 150503409 |
Gene | MAMLD1 |
is a | snp |
is | mentioned by |
dbSNP | rs121909495 |
dbSNP (classic) | rs121909495 |
ClinGen | rs121909495 |
ebi | rs121909495 |
HLI | rs121909495 |
Exac | rs121909495 |
Gnomad | rs121909495 |
Varsome | rs121909495 |
LitVar | rs121909495 |
Map | rs121909495 |
PheGenI | rs121909495 |
Biobank | rs121909495 |
1000 genomes | rs121909495 |
hgdp | rs121909495 |
ensembl | rs121909495 |
geneview | rs121909495 |
scholar | rs121909495 |
rs121909495 | |
pharmgkb | rs121909495 |
gwascentral | rs121909495 |
openSNP | rs121909495 |
23andMe | rs121909495 |
SNPshot | rs121909495 |
SNPdbe | rs121909495 |
MSV3d | rs121909495 |
GWAS Ctlg | rs121909495 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121909495(T;T) |
Alt | rs121909495(T;T) |
Reference | Rs121909495(C;C) |
Significance | Pathogenic |
Disease | Hypospadias 2 |
Variation | info |
Gene | MAMLD1 |
CLNDBN | Hypospadias 2, X-linked |
Reversed | 0 |
HGVS | NC_000023.10:g.149671679C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012379.14, |