rs116840812

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(AG;AG)	0	common in clinvar
(GA;GA)	0	common in complete genomics
(I;I)	0	common genotype

Make rs116840812(-;-)

Make rs116840812(-;GA)

Reference

GRCh38 38.1/141

Chromosome

15

Position

82538940

Gene

RPS17

is a	snp
is	mentioned by
dbSNP	rs116840812
dbSNP (classic)	rs116840812
ClinGen	rs116840812
ebi	rs116840812
HLI	rs116840812
Exac	rs116840812
Gnomad	rs116840812
Varsome	rs116840812
LitVar	rs116840812
Map	rs116840812
PheGenI	rs116840812
Biobank	rs116840812
1000 genomes	rs116840812
hgdp	rs116840812
ensembl	rs116840812
geneview	rs116840812
scholar	rs116840812
google	rs116840812
pharmgkb	rs116840812
gwascentral	rs116840812
openSNP	rs116840812
23andMe	rs116840812
SNPshot	rs116840812
SNPdbe	rs116840812
MSV3d	rs116840812
GWAS Ctlg	rs116840812

Max Magnitude

0

OMIM	180472
Desc
Variant	0002
Related	also

ClinVar
Risk	rs116840812(-;-)
Alt	rs116840812(-;-)
Reference	Rs116840812(AG;AG)
Significance	Pathogenic
Disease	Diamond-Blackfan anemia 4
Variation	info
Gene	RPS17
CLNDBN	Diamond-Blackfan anemia 4
Reversed	1
HGVS	NC_000015.9:g.82823348_82823349delTC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013874.15,