rs104894717

Orientation

plus

Stabilized

plus

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

Make rs104894717(G;T)

Make rs104894717(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

41860817

Gene

RPS19

is a	snp
is	mentioned by
dbSNP	rs104894717
dbSNP (classic)	rs104894717
ClinGen	rs104894717
ebi	rs104894717
HLI	rs104894717
Exac	rs104894717
Gnomad	rs104894717
Varsome	rs104894717
LitVar	rs104894717
Map	rs104894717
PheGenI	rs104894717
Biobank	rs104894717
1000 genomes	rs104894717
hgdp	rs104894717
ensembl	rs104894717
geneview	rs104894717
scholar	rs104894717
google	rs104894717
pharmgkb	rs104894717
gwascentral	rs104894717
openSNP	rs104894717
23andMe	rs104894717
SNPshot	rs104894717
SNPdbe	rs104894717
MSV3d	rs104894717
GWAS Ctlg	rs104894717

Max Magnitude

0

OMIM	603474
Desc
Variant	0007
Related	also

ClinVar
Risk	rs104894717(A;A) rs104894717(T;T)
Alt	rs104894717(A;A) rs104894717(T;T)
Reference	Rs104894717(G;G)
Significance	Pathogenic
Disease	Diamond-Blackfan anemia 1 not provided
Variation	info
Gene	RPS19
CLNDBN	Diamond-Blackfan anemia 1 not provided
Reversed	0
HGVS	NC_000019.9:g.42364887G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000033188.5, RCV000482973.1,