rs104894716

Orientation

plus

Stabilized

plus

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

Make rs104894716(A;A)

Make rs104894716(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

41861138

Gene

RPS19

is a	snp
is	mentioned by
dbSNP	rs104894716
dbSNP (classic)	rs104894716
ClinGen	rs104894716
ebi	rs104894716
HLI	rs104894716
Exac	rs104894716
Gnomad	rs104894716
Varsome	rs104894716
LitVar	rs104894716
Map	rs104894716
PheGenI	rs104894716
Biobank	rs104894716
1000 genomes	rs104894716
hgdp	rs104894716
ensembl	rs104894716
geneview	rs104894716
scholar	rs104894716
google	rs104894716
pharmgkb	rs104894716
gwascentral	rs104894716
openSNP	rs104894716
23andMe	rs104894716
SNPshot	rs104894716
SNPdbe	rs104894716
MSV3d	rs104894716
GWAS Ctlg	rs104894716

Max Magnitude

0

OMIM	603474
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894716(A;A)
Alt	rs104894716(A;A)
Reference	Rs104894716(G;G)
Significance	Pathogenic
Disease	Diamond-Blackfan anemia 1
Variation	info
Gene	RPS19
CLNDBN	Diamond-Blackfan anemia 1
Reversed	0
HGVS	NC_000019.9:g.42365207G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000033184.4,