rs121912543

Orientation

plus

Stabilized

plus

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

Make rs121912543(A;A)

Make rs121912543(A;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

74259621

Gene

VSX2

is a	snp
is	mentioned by
dbSNP	rs121912543
ClinGen	rs121912543
ebi	rs121912543
HLI	rs121912543
Exac	rs121912543
Varsome	rs121912543
Map	rs121912543
PheGenI	rs121912543
hapmap	rs121912543
1000 genomes	rs121912543
hgdp	rs121912543
ensembl	rs121912543
gopubmed	rs121912543
geneview	rs121912543
scholar	rs121912543
google	rs121912543
pharmgkb	rs121912543
gwascentral	rs121912543
openSNP	rs121912543
23andMe	rs121912543
23andMe all	rs121912543
SNP Nexus
SNPshot	rs121912543
SNPdbe	rs121912543
MSV3d	rs121912543
GWAS Ctlg	rs121912543

Merged from

Rs121912544

Max Magnitude

0

OMIM	142993
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121912543(A;A) rs121912543(C;C)
Alt	rs121912543(A;A) rs121912543(C;C)
Reference	Rs121912543(G;G)
Significance	Pathogenic
Disease	Microphthalmia not provided
Variation	info
Gene	VSX2
CLNDBN	Microphthalmia, cataracts, and iris abnormalities Microphthalmia, isolated 2 not provided
Reversed	0
HGVS	NC_000014.8:g.74726324G>A; NC_000014.8:g.74726324G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015985.25, RCV000015986.25, RCV000015987.25, RCV000413928.1,