rs121912585

Orientation

minus

Stabilized

minus

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

Make rs121912585(C;T)

Make rs121912585(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

39332405

Gene

KIF21A

is a	snp
is	mentioned by
dbSNP	rs121912585
dbSNP (classic)	rs121912585
ClinGen	rs121912585
ebi	rs121912585
HLI	rs121912585
Exac	rs121912585
Gnomad	rs121912585
Varsome	rs121912585
LitVar	rs121912585
Map	rs121912585
PheGenI	rs121912585
Biobank	rs121912585
1000 genomes	rs121912585
hgdp	rs121912585
ensembl	rs121912585
geneview	rs121912585
scholar	rs121912585
google	rs121912585
pharmgkb	rs121912585
gwascentral	rs121912585
openSNP	rs121912585
23andMe	rs121912585
SNPshot	rs121912585
SNPdbe	rs121912585
MSV3d	rs121912585
GWAS Ctlg	rs121912585

Max Magnitude

0

OMIM	608283
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121912585(T;T)
Alt	rs121912585(T;T)
Reference	Rs121912585(C;C)
Significance	Pathogenic
Disease	Fibrosis of extraocular muscles Fibrosis of extraocular muscles not provided
Variation	info
Gene	KIF21A
CLNDBN	Fibrosis of extraocular muscles, congenital, 1 Fibrosis of extraocular muscles, congenital, 3b not provided
Reversed	1
HGVS	NC_000012.11:g.39726207G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002538.2, RCV000002539.2, RCV000267056.1,