rs387907010
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs387907010(C;T) |
Make rs387907010(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 108924083 |
Gene | GPSM2 |
is a | snp |
is | mentioned by |
dbSNP | rs387907010 |
dbSNP (classic) | rs387907010 |
ClinGen | rs387907010 |
ebi | rs387907010 |
HLI | rs387907010 |
Exac | rs387907010 |
Gnomad | rs387907010 |
Varsome | rs387907010 |
LitVar | rs387907010 |
Map | rs387907010 |
PheGenI | rs387907010 |
Biobank | rs387907010 |
1000 genomes | rs387907010 |
hgdp | rs387907010 |
ensembl | rs387907010 |
geneview | rs387907010 |
scholar | rs387907010 |
rs387907010 | |
pharmgkb | rs387907010 |
gwascentral | rs387907010 |
openSNP | rs387907010 |
23andMe | rs387907010 |
SNPshot | rs387907010 |
SNPdbe | rs387907010 |
MSV3d | rs387907010 |
GWAS Ctlg | rs387907010 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387907010(T;T) |
Alt | rs387907010(T;T) |
Reference | Rs387907010(C;C) |
Significance | Pathogenic |
Disease | Chudley-McCullough syndrome |
Variation | info |
Gene | GPSM2 |
CLNDBN | Chudley-McCullough syndrome |
Reversed | 0 |
HGVS | NC_000001.10:g.109466705C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023761.3, |