rs147508369

Orientation

plus

Stabilized

plus

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

Make rs147508369(C;T)

Make rs147508369(T;T)

Reference

GRCh38 38.1/142

Chromosome

19

Position

41861204

Gene

RPS19

is a	snp
is	mentioned by
dbSNP	rs147508369
dbSNP (classic)	rs147508369
ClinGen	rs147508369
ebi	rs147508369
HLI	rs147508369
Exac	rs147508369
Gnomad	rs147508369
Varsome	rs147508369
LitVar	rs147508369
Map	rs147508369
PheGenI	rs147508369
Biobank	rs147508369
1000 genomes	rs147508369
hgdp	rs147508369
ensembl	rs147508369
geneview	rs147508369
scholar	rs147508369
google	rs147508369
pharmgkb	rs147508369
gwascentral	rs147508369
openSNP	rs147508369
23andMe	rs147508369
SNPshot	rs147508369
SNPdbe	rs147508369
MSV3d	rs147508369
GWAS Ctlg	rs147508369

Max Magnitude

0

ClinVar
Risk	rs147508369(T;T)
Alt	rs147508369(T;T)
Reference	Rs147508369(C;C)
Significance	Pathogenic
Disease	Diamond-Blackfan anemia 1 Diamond-Blackfan anemia
Variation	info
Gene	RPS19
CLNDBN	Diamond-Blackfan anemia 1 Diamond-Blackfan anemia
Reversed	0
HGVS	NC_000019.9:g.42365273C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000033188.5, RCV000471188.1,