rs727504382
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs727504382(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 19 |
Position | 4101105 |
Gene | MAP2K2 |
is a | snp |
is | mentioned by |
dbSNP | rs727504382 |
dbSNP (classic) | rs727504382 |
ClinGen | rs727504382 |
ebi | rs727504382 |
HLI | rs727504382 |
Exac | rs727504382 |
Gnomad | rs727504382 |
Varsome | rs727504382 |
LitVar | rs727504382 |
Map | rs727504382 |
PheGenI | rs727504382 |
Biobank | rs727504382 |
1000 genomes | rs727504382 |
hgdp | rs727504382 |
ensembl | rs727504382 |
geneview | rs727504382 |
scholar | rs727504382 |
rs727504382 | |
pharmgkb | rs727504382 |
gwascentral | rs727504382 |
openSNP | rs727504382 |
23andMe | rs727504382 |
SNPshot | rs727504382 |
SNPdbe | rs727504382 |
MSV3d | rs727504382 |
GWAS Ctlg | rs727504382 |
Max Magnitude | 0 |
aka c.619G>A (p.Glu207Lys)
ClinVar | |
---|---|
Risk | rs727504382(A;A) |
Alt | rs727504382(A;A) |
Reference | Rs727504382(G;G) |
Significance | Pathogenic |
Disease | Rasopathy not provided |
Variation | info |
Gene | MAP2K2 |
CLNDBN | Rasopathy not provided |
Reversed | 1 |
HGVS | NC_000019.9:g.4101103C>T |
CLNSRC | |
CLNACC | RCV000158024.2, RCV000254662.2, |