rs121912590

Orientation

minus

Stabilized

minus

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

Make rs121912590(G;G)

Make rs121912590(G;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

39332607

Gene

KIF21A

is a	snp
is	mentioned by
dbSNP	rs121912590
dbSNP (classic)	rs121912590
ClinGen	rs121912590
ebi	rs121912590
HLI	rs121912590
Exac	rs121912590
Gnomad	rs121912590
Varsome	rs121912590
LitVar	rs121912590
Map	rs121912590
PheGenI	rs121912590
Biobank	rs121912590
1000 genomes	rs121912590
hgdp	rs121912590
ensembl	rs121912590
geneview	rs121912590
scholar	rs121912590
google	rs121912590
pharmgkb	rs121912590
gwascentral	rs121912590
openSNP	rs121912590
23andMe	rs121912590
SNPshot	rs121912590
SNPdbe	rs121912590
MSV3d	rs121912590
GWAS Ctlg	rs121912590

Max Magnitude

0

OMIM	608283
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121912590(G;G)
Alt	rs121912590(G;G)
Reference	Rs121912590(T;T)
Significance	Pathogenic
Disease	Fibrosis of extraocular muscles
Variation	info
Gene	KIF21A
CLNDBN	Fibrosis of extraocular muscles, congenital, 1
Reversed	1
HGVS	NC_000012.11:g.39726409A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002545.2,