rs777695770
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs777695770(G;T) |
Make rs777695770(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 108903235 |
Gene | GPSM2 |
is a | snp |
is | mentioned by |
dbSNP | rs777695770 |
dbSNP (classic) | rs777695770 |
ClinGen | rs777695770 |
ebi | rs777695770 |
HLI | rs777695770 |
Exac | rs777695770 |
Gnomad | rs777695770 |
Varsome | rs777695770 |
LitVar | rs777695770 |
Map | rs777695770 |
PheGenI | rs777695770 |
Biobank | rs777695770 |
1000 genomes | rs777695770 |
hgdp | rs777695770 |
ensembl | rs777695770 |
geneview | rs777695770 |
scholar | rs777695770 |
rs777695770 | |
pharmgkb | rs777695770 |
gwascentral | rs777695770 |
openSNP | rs777695770 |
23andMe | rs777695770 |
SNPshot | rs777695770 |
SNPdbe | rs777695770 |
MSV3d | rs777695770 |
GWAS Ctlg | rs777695770 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs777695770(T;T) |
Alt | rs777695770(T;T) |
Reference | Rs777695770(G;G) |
Significance | Pathogenic |
Disease | Chudley-McCullough syndrome |
Variation | info |
Gene | GPSM2 |
CLNDBN | Chudley-McCullough syndrome |
Reversed | 0 |
HGVS | NC_000001.10:g.109445857G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000029166.5, |