rs121918244

Orientation

minus

Stabilized

minus

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

Make rs121918244(C;T)

Make rs121918244(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

121781772

Gene

IQCB1

is a	snp
is	mentioned by
dbSNP	rs121918244
dbSNP (classic)	rs121918244
ClinGen	rs121918244
ebi	rs121918244
HLI	rs121918244
Exac	rs121918244
Gnomad	rs121918244
Varsome	rs121918244
LitVar	rs121918244
Map	rs121918244
PheGenI	rs121918244
Biobank	rs121918244
1000 genomes	rs121918244
hgdp	rs121918244
ensembl	rs121918244
geneview	rs121918244
scholar	rs121918244
google	rs121918244
pharmgkb	rs121918244
gwascentral	rs121918244
openSNP	rs121918244
23andMe	rs121918244
SNPshot	rs121918244
SNPdbe	rs121918244
MSV3d	rs121918244
GWAS Ctlg	rs121918244

Max Magnitude

0

OMIM	609237
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121918244(T;T)
Alt	rs121918244(T;T)
Reference	Rs121918244(C;C)
Significance	Pathogenic
Disease	Senior-Loken syndrome 5 not provided Nephronophthisis
Variation	info
Gene	IQCB1
CLNDBN	Senior-Loken syndrome 5 not provided Nephronophthisis
Reversed	1
HGVS	NC_000003.11:g.121500619G>A
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000001904.5, RCV000079366.3, RCV000230781.1,