rs606231388

Orientation

plus

Stabilized

plus

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

Make rs606231388(A;A)

Make rs606231388(A;C)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

31664397

Gene

ELP4

is a	snp
is	mentioned by
dbSNP	rs606231388
dbSNP (classic)	rs606231388
ClinGen	rs606231388
ebi	rs606231388
HLI	rs606231388
Exac	rs606231388
Gnomad	rs606231388
Varsome	rs606231388
LitVar	rs606231388
Map	rs606231388
PheGenI	rs606231388
Biobank	rs606231388
1000 genomes	rs606231388
hgdp	rs606231388
ensembl	rs606231388
geneview	rs606231388
scholar	rs606231388
google	rs606231388
pharmgkb	rs606231388
gwascentral	rs606231388
openSNP	rs606231388
23andMe	rs606231388
SNPshot	rs606231388
SNPdbe	rs606231388
MSV3d	rs606231388
GWAS Ctlg	rs606231388

Max Magnitude

0

ClinVar
Risk	rs606231388(A;A)
Alt	rs606231388(A;A)
Reference	Rs606231388(C;C)
Significance	Pathogenic
Disease	Aniridia 1
Variation	info
Gene	ELP4
CLNDBN	Aniridia 1
Reversed	0
HGVS	NC_000011.9:g.31685945C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000106409.4,