Have questions? Visit https://www.reddit.com/r/SNPedia

rs786203997

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs786203997(C;C)
Make rs786203997(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position8321531
GeneNDUFA7, RPS28
is asnp
is mentioned by
dbSNPrs786203997
ebirs786203997
HLIrs786203997
Exacrs786203997
Varsomers786203997
Maprs786203997
PheGenIrs786203997
hapmaprs786203997
1000 genomesrs786203997
hgdprs786203997
ensemblrs786203997
gopubmedrs786203997
geneviewrs786203997
scholarrs786203997
googlers786203997
pharmgkbrs786203997
gwascentralrs786203997
openSNPrs786203997
23andMers786203997
23andMe allrs786203997
SNP Nexus

SNPshotrs786203997
SNPdbers786203997
MSV3drs786203997
GWAS Ctlgrs786203997
Max Magnitude0
ClinVar
Risk rs786203997(C;C)
Alt rs786203997(C;C)
Reference rs786203997(T;T)
Significance Pathogenic
Disease Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
Variation info
Gene NDUFA7 RPS28
CLNDBN Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
Reversed 1
HGVS NC_000019.9:g.8386415A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000167573.3,