rs63750138
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs63750138(A;A) |
Make rs63750138(A;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 47800297 |
Gene | MSH6 |
is a | snp |
is | mentioned by |
dbSNP | rs63750138 |
dbSNP (classic) | rs63750138 |
ClinGen | rs63750138 |
ebi | rs63750138 |
HLI | rs63750138 |
Exac | rs63750138 |
Gnomad | rs63750138 |
Varsome | rs63750138 |
LitVar | rs63750138 |
Map | rs63750138 |
PheGenI | rs63750138 |
Biobank | rs63750138 |
1000 genomes | rs63750138 |
hgdp | rs63750138 |
ensembl | rs63750138 |
geneview | rs63750138 |
scholar | rs63750138 |
rs63750138 | |
pharmgkb | rs63750138 |
gwascentral | rs63750138 |
openSNP | rs63750138 |
23andMe | rs63750138 |
SNPshot | rs63750138 |
SNPdbe | rs63750138 |
MSV3d | rs63750138 |
GWAS Ctlg | rs63750138 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs63750138(A;A) rs63750138(T;T) |
Alt | rs63750138(A;A) rs63750138(T;T) |
Reference | Rs63750138(C;C) |
Significance | Probable-Pathogenic |
Disease | Hereditary cancer-predisposing syndrome not specified Lynch syndrome not provided |
Variation | info |
Gene | MSH6 |
CLNDBN | Hereditary cancer-predisposing syndrome not specified Lynch syndrome not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.48027436C>A; NC_000002.11:g.48027436C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000164001.1, RCV000442598.1, RCV000074732.2, RCV000162422.3, RCV000218399.2, |