rs886037644
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs886037644(-;T) |
Make rs886037644(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 15 |
Position | 48142209 |
Gene | MYEF2, SLC24A5 |
is a | snp |
is | mentioned by |
dbSNP | rs886037644 |
dbSNP (classic) | rs886037644 |
ClinGen | rs886037644 |
ebi | rs886037644 |
HLI | rs886037644 |
Exac | rs886037644 |
Gnomad | rs886037644 |
Varsome | rs886037644 |
LitVar | rs886037644 |
Map | rs886037644 |
PheGenI | rs886037644 |
Biobank | rs886037644 |
1000 genomes | rs886037644 |
hgdp | rs886037644 |
ensembl | rs886037644 |
geneview | rs886037644 |
scholar | rs886037644 |
rs886037644 | |
pharmgkb | rs886037644 |
gwascentral | rs886037644 |
openSNP | rs886037644 |
23andMe | rs886037644 |
SNPshot | rs886037644 |
SNPdbe | rs886037644 |
MSV3d | rs886037644 |
GWAS Ctlg | rs886037644 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886037644(T;T) |
Alt | rs886037644(T;T) |
Reference | Rs886037644(-;-) |
Significance | Pathogenic |
Disease | Albinism |
Variation | info |
Gene | SLC24A5 MYEF2 |
CLNDBN | Albinism, oculocutaneous, type VI |
Reversed | 0 |
HGVS | NC_000015.9:g.48434406dupT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000054448.3, |