rs116840807

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(CTT;CTT)	0	common in clinvar
(I;I)	0	common genotype
(TCT;TCT)	0	common in clinvar

Make rs116840807(-;-)

Make rs116840807(-;CTT)

Reference

GRCh38 38.1/141

Chromosome

3

Position

197951229

Gene	IQCG, RPL35A

is a	snp
is	mentioned by
dbSNP	rs116840807
dbSNP (classic)	rs116840807
ClinGen	rs116840807
ebi	rs116840807
HLI	rs116840807
Exac	rs116840807
Gnomad	rs116840807
Varsome	rs116840807
LitVar	rs116840807
Map	rs116840807
PheGenI	rs116840807
Biobank	rs116840807
1000 genomes	rs116840807
hgdp	rs116840807
ensembl	rs116840807
geneview	rs116840807
scholar	rs116840807
google	rs116840807
pharmgkb	rs116840807
gwascentral	rs116840807
openSNP	rs116840807
23andMe	rs116840807
SNPshot	rs116840807
SNPdbe	rs116840807
MSV3d	rs116840807
GWAS Ctlg	rs116840807

Max Magnitude

0

OMIM	180468
Desc
Variant	0002
Related	also

ClinVar
Risk	rs116840807(-;-)
Alt	rs116840807(-;-)
Reference	Rs116840807(TCT;TCT)
Significance	Pathogenic
Disease	Diamond-Blackfan anemia 5
Variation	info
Gene	IQCG RPL35A
CLNDBN	Diamond-Blackfan anemia 5
Reversed	0
HGVS	NC_000003.11:g.197678100_197678102delCTT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013876.26,