rs121912553

Orientation

minus

Stabilized

minus

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

Make rs121912553(C;T)

Make rs121912553(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

128400828

Gene

IMPDH1

is a	snp
is	mentioned by
dbSNP	rs121912553
dbSNP (classic)	rs121912553
ClinGen	rs121912553
ebi	rs121912553
HLI	rs121912553
Exac	rs121912553
Gnomad	rs121912553
Varsome	rs121912553
LitVar	rs121912553
Map	rs121912553
PheGenI	rs121912553
Biobank	rs121912553
1000 genomes	rs121912553
hgdp	rs121912553
ensembl	rs121912553
geneview	rs121912553
scholar	rs121912553
google	rs121912553
pharmgkb	rs121912553
gwascentral	rs121912553
openSNP	rs121912553
23andMe	rs121912553
SNPshot	rs121912553
SNPdbe	rs121912553
MSV3d	rs121912553
GWAS Ctlg	rs121912553

GMAF

0.0009183

Max Magnitude

0

OMIM	146690
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121912553(T;T)
Alt	rs121912553(T;T)
Reference	Rs121912553(C;C)
Significance	Pathogenic
Disease	Leber congenital amaurosis 11
Variation	info
Gene	IMPDH1
CLNDBN	Leber congenital amaurosis 11
Reversed	1
HGVS	NC_000007.13:g.128040882G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015962.25,