rs587778618
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587778618(C;T) |
Make rs587778618(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 7 |
Position | 5987078 |
Gene | PMS2 |
is a | snp |
is | mentioned by |
dbSNP | rs587778618 |
dbSNP (classic) | rs587778618 |
ClinGen | rs587778618 |
ebi | rs587778618 |
HLI | rs587778618 |
Exac | rs587778618 |
Gnomad | rs587778618 |
Varsome | rs587778618 |
LitVar | rs587778618 |
Map | rs587778618 |
PheGenI | rs587778618 |
Biobank | rs587778618 |
1000 genomes | rs587778618 |
hgdp | rs587778618 |
ensembl | rs587778618 |
geneview | rs587778618 |
scholar | rs587778618 |
rs587778618 | |
pharmgkb | rs587778618 |
gwascentral | rs587778618 |
openSNP | rs587778618 |
23andMe | rs587778618 |
SNPshot | rs587778618 |
SNPdbe | rs587778618 |
MSV3d | rs587778618 |
GWAS Ctlg | rs587778618 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587778618(A;A) rs587778618(T;T) |
Alt | rs587778618(A;A) rs587778618(T;T) |
Reference | Rs587778618(C;C) |
Significance | Pathogenic |
Disease | not specified Hereditary cancer-predisposing syndrome not provided Lynch syndrome |
Variation | info |
Gene | PMS2 |
CLNDBN | not specified Hereditary cancer-predisposing syndrome not provided Lynch syndrome |
Reversed | 1 |
HGVS | NC_000007.13:g.6026709G>A; NC_000007.13:g.6026709G>T |
CLNSRC | |
CLNACC | RCV000121846.1, RCV000132169.2, RCV000222921.1, RCV000221050.1, RCV000477462.1, |