rs786203997

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs786203997(C;C)

Make rs786203997(C;T)

Reference

GRCh38.p2 38.2/146

Chromosome

19

Position

8321531

Gene	NDUFA7, RPS28

is a	snp
is	mentioned by
dbSNP	rs786203997
dbSNP (classic)	rs786203997
ClinGen	rs786203997
ebi	rs786203997
HLI	rs786203997
Exac	rs786203997
Gnomad	rs786203997
Varsome	rs786203997
LitVar	rs786203997
Map	rs786203997
PheGenI	rs786203997
Biobank	rs786203997
1000 genomes	rs786203997
hgdp	rs786203997
ensembl	rs786203997
geneview	rs786203997
scholar	rs786203997
google	rs786203997
pharmgkb	rs786203997
gwascentral	rs786203997
openSNP	rs786203997
23andMe	rs786203997
SNPshot	rs786203997
SNPdbe	rs786203997
MSV3d	rs786203997
GWAS Ctlg	rs786203997

Max Magnitude

0

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	RPS28 NDUFA7
CLNDBN	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
Reversed	1
HGVS	NC_000019.9:g.8386415A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000167573.3,