rs116840809

Orientation

plus

Stabilized

plus

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

Make rs116840809(C;T)

Make rs116840809(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

197954142

Gene	IQCG, RPL35A

is a	snp
is	mentioned by
dbSNP	rs116840809
dbSNP (classic)	rs116840809
ClinGen	rs116840809
ebi	rs116840809
HLI	rs116840809
Exac	rs116840809
Gnomad	rs116840809
Varsome	rs116840809
LitVar	rs116840809
Map	rs116840809
PheGenI	rs116840809
Biobank	rs116840809
1000 genomes	rs116840809
hgdp	rs116840809
ensembl	rs116840809
geneview	rs116840809
scholar	rs116840809
google	rs116840809
pharmgkb	rs116840809
gwascentral	rs116840809
openSNP	rs116840809
23andMe	rs116840809
SNPshot	rs116840809
SNPdbe	rs116840809
MSV3d	rs116840809
GWAS Ctlg	rs116840809

Max Magnitude

0

OMIM	180468
Desc
Variant	0003
Related	also

ClinVar
Risk	rs116840809(T;T)
Alt	rs116840809(T;T)
Reference	Rs116840809(C;C)
Significance	Pathogenic
Disease	Diamond-Blackfan anemia 5
Variation	info
Gene	IQCG RPL35A
CLNDBN	Diamond-Blackfan anemia 5
Reversed	0
HGVS	NC_000003.11:g.197681013C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013877.27,