rs121918471
From SNPedia
Merged into | rs80338836 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GGT;GGT) | 0 | common in clinvar |
Make rs121918471(-;-) |
Make rs121918471(-;GGT) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 112450358 |
Gene | PTPN11 |
is a | snp |
is | mentioned by |
dbSNP | rs121918471 |
dbSNP (classic) | rs121918471 |
ClinGen | rs121918471 |
ebi | rs121918471 |
HLI | rs121918471 |
Exac | rs121918471 |
Gnomad | rs121918471 |
Varsome | rs121918471 |
LitVar | rs121918471 |
Map | rs121918471 |
PheGenI | rs121918471 |
Biobank | rs121918471 |
1000 genomes | rs121918471 |
hgdp | rs121918471 |
ensembl | rs121918471 |
geneview | rs121918471 |
scholar | rs121918471 |
rs121918471 | |
pharmgkb | rs121918471 |
gwascentral | rs121918471 |
openSNP | rs121918471 |
23andMe | rs121918471 |
SNPshot | rs121918471 |
SNPdbe | rs121918471 |
MSV3d | rs121918471 |
GWAS Ctlg | rs121918471 |
Status | Merged into rs80338836 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs121918471(GGT;GGT) |
Significance | Untested |
Disease | Noonan syndrome 1 |
Variation | info |
Gene | PTPN11 |
CLNDBN | Noonan syndrome 1 |
Reversed | 0 |
HGVS | NC_000012.11:g.112888162_112888164delGGT |
CLNSRC | OMIM Allelic Variant GeneReviews |
CLNACC | SCV000034523.1, SCV000034523.1, SCV000040936.1, SCV000040936.1, |