rs76397662
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs76397662(A;A) |
Make rs76397662(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 43102345 |
Gene | RET |
is a | snp |
is | mentioned by |
dbSNP | rs76397662 |
dbSNP (classic) | rs76397662 |
ClinGen | rs76397662 |
ebi | rs76397662 |
HLI | rs76397662 |
Exac | rs76397662 |
Gnomad | rs76397662 |
Varsome | rs76397662 |
LitVar | rs76397662 |
Map | rs76397662 |
PheGenI | rs76397662 |
Biobank | rs76397662 |
1000 genomes | rs76397662 |
hgdp | rs76397662 |
ensembl | rs76397662 |
geneview | rs76397662 |
scholar | rs76397662 |
rs76397662 | |
pharmgkb | rs76397662 |
gwascentral | rs76397662 |
openSNP | rs76397662 |
23andMe | rs76397662 |
SNPshot | rs76397662 |
SNPdbe | rs76397662 |
MSV3d | rs76397662 |
GWAS Ctlg | rs76397662 |
GMAF | 0.001837 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs76397662(A;A) |
Alt | rs76397662(A;A) |
Reference | Rs76397662(G;G) |
Significance | Pathogenic |
Disease | Congenital central hypoventilation not specified Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia Hirschsprung disease 1 |
Variation | info |
Gene | RET |
CLNDBN | Congenital central hypoventilation not specified Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2 Hirschsprung disease 1 |
Reversed | 0 |
HGVS | NC_000010.10:g.43597793G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000014974.26, RCV000121988.2, RCV000163885.2, RCV000198261.2, RCV000490359.1, |