rs121912587

Orientation

minus

Stabilized

minus

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

Make rs121912587(C;C)

Make rs121912587(C;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

39332236

Gene

KIF21A

is a	snp
is	mentioned by
dbSNP	rs121912587
dbSNP (classic)	rs121912587
ClinGen	rs121912587
ebi	rs121912587
HLI	rs121912587
Exac	rs121912587
Gnomad	rs121912587
Varsome	rs121912587
LitVar	rs121912587
Map	rs121912587
PheGenI	rs121912587
Biobank	rs121912587
1000 genomes	rs121912587
hgdp	rs121912587
ensembl	rs121912587
geneview	rs121912587
scholar	rs121912587
google	rs121912587
pharmgkb	rs121912587
gwascentral	rs121912587
openSNP	rs121912587
23andMe	rs121912587
SNPshot	rs121912587
SNPdbe	rs121912587
MSV3d	rs121912587
GWAS Ctlg	rs121912587

Max Magnitude

0

OMIM	608283
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121912587(C;C)
Alt	rs121912587(C;C)
Reference	Rs121912587(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.39726038A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002542.2,