rs104894711

Orientation

plus

Stabilized

plus

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

Make rs104894711(C;T)

Make rs104894711(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

41869042

Gene	MIR6797, RPS19

is a	snp
is	mentioned by
dbSNP	rs104894711
dbSNP (classic)	rs104894711
ClinGen	rs104894711
ebi	rs104894711
HLI	rs104894711
Exac	rs104894711
Gnomad	rs104894711
Varsome	rs104894711
LitVar	rs104894711
Map	rs104894711
PheGenI	rs104894711
Biobank	rs104894711
1000 genomes	rs104894711
hgdp	rs104894711
ensembl	rs104894711
geneview	rs104894711
scholar	rs104894711
google	rs104894711
pharmgkb	rs104894711
gwascentral	rs104894711
openSNP	rs104894711
23andMe	rs104894711
SNPshot	rs104894711
SNPdbe	rs104894711
MSV3d	rs104894711
GWAS Ctlg	rs104894711

Max Magnitude

0

OMIM	603474
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894711(T;T)
Alt	rs104894711(T;T)
Reference	Rs104894711(C;C)
Significance	Pathogenic
Disease	Diamond-Blackfan anemia 1
Variation	info
Gene	MIR6797 RPS19
CLNDBN	Diamond-Blackfan anemia 1
Reversed	0
HGVS	NC_000019.9:g.42373112C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000033183.4,