rs727503094
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GC;GC) | 0 | common in clinvar |
(GCG;GCG) | 0 | common in clinvar |
Make rs727503094(AA;AA) |
Make rs727503094(AA;GC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 534287 |
Gene | HRAS, LRRC56 |
is a | snp |
is | mentioned by |
dbSNP | rs727503094 |
dbSNP (classic) | rs727503094 |
ClinGen | rs727503094 |
ebi | rs727503094 |
HLI | rs727503094 |
Exac | rs727503094 |
Gnomad | rs727503094 |
Varsome | rs727503094 |
LitVar | rs727503094 |
Map | rs727503094 |
PheGenI | rs727503094 |
Biobank | rs727503094 |
1000 genomes | rs727503094 |
hgdp | rs727503094 |
ensembl | rs727503094 |
geneview | rs727503094 |
scholar | rs727503094 |
rs727503094 | |
pharmgkb | rs727503094 |
gwascentral | rs727503094 |
openSNP | rs727503094 |
23andMe | rs727503094 |
SNPshot | rs727503094 |
SNPdbe | rs727503094 |
MSV3d | rs727503094 |
GWAS Ctlg | rs727503094 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727503094(AA;AA) rs727503094(TA;TA) rs727503094(AT;AT) rs727503094(CT;CT) |
Alt | rs727503094(AA;AA) rs727503094(TA;TA) rs727503094(AT;AT) rs727503094(CT;CT) |
Reference | Rs727503094(GC;GC) |
Significance | Pathogenic |
Disease | not provided Rasopathy Costello syndrome |
Variation | info |
Gene | HRAS |
CLNDBN | not provided Rasopathy Costello syndrome |
Reversed | 1 |
HGVS | NC_000011.9:g.534287_534288delGCinsAG; NC_000011.9:g.534287_534288delGCinsAT; NC_000011.9:g.534287_534288delGCinsTA; NC_000011.9:g.534287_534288delinsTT |
CLNSRC | |
CLNACC | RCV000157929.1, RCV000157925.1, RCV000322736.1, RCV000150836.1, RCV000255809.1, |