rs121912554

Orientation

minus

Stabilized

minus

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

Make rs121912554(G;G)

Make rs121912554(G;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

128400120

Gene

IMPDH1

is a	snp
is	mentioned by
dbSNP	rs121912554
dbSNP (classic)	rs121912554
ClinGen	rs121912554
ebi	rs121912554
HLI	rs121912554
Exac	rs121912554
Gnomad	rs121912554
Varsome	rs121912554
LitVar	rs121912554
Map	rs121912554
PheGenI	rs121912554
Biobank	rs121912554
1000 genomes	rs121912554
hgdp	rs121912554
ensembl	rs121912554
geneview	rs121912554
scholar	rs121912554
google	rs121912554
pharmgkb	rs121912554
gwascentral	rs121912554
openSNP	rs121912554
23andMe	rs121912554
SNPshot	rs121912554
SNPdbe	rs121912554
MSV3d	rs121912554
GWAS Ctlg	rs121912554

Max Magnitude

0

OMIM	146690
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121912554(C;C) rs121912554(G;G)
Alt	rs121912554(C;C) rs121912554(G;G)
Reference	Rs121912554(T;T)
Significance	Pathogenic
Disease	Leber congenital amaurosis 11
Variation	info
Gene	IMPDH1
CLNDBN	Leber congenital amaurosis 11
Reversed	1
HGVS	NC_000007.13:g.128040174A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015963.25,