rs121434389

Orientation

plus

Stabilized

plus

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

Make rs121434389(C;T)

Make rs121434389(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

23693872

Gene

RPL11

is a	snp
is	mentioned by
dbSNP	rs121434389
dbSNP (classic)	rs121434389
ClinGen	rs121434389
ebi	rs121434389
HLI	rs121434389
Exac	rs121434389
Gnomad	rs121434389
Varsome	rs121434389
LitVar	rs121434389
Map	rs121434389
PheGenI	rs121434389
Biobank	rs121434389
1000 genomes	rs121434389
hgdp	rs121434389
ensembl	rs121434389
geneview	rs121434389
scholar	rs121434389
google	rs121434389
pharmgkb	rs121434389
gwascentral	rs121434389
openSNP	rs121434389
23andMe	rs121434389
SNPshot	rs121434389
SNPdbe	rs121434389
MSV3d	rs121434389
GWAS Ctlg	rs121434389

Max Magnitude

0

OMIM	604175
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121434389(T;T)
Alt	rs121434389(T;T)
Reference	Rs121434389(C;C)
Significance	Pathogenic
Disease	Diamond-Blackfan anemia 7
Variation	info
Gene	RPL11
CLNDBN	Diamond-Blackfan anemia 7
Reversed	0
HGVS	NC_000001.10:g.24020362C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006107.2,