rs794726688

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(CCGTGCATCCC;CCGTGCATCCC)	0	common in clinvar
(CGTGCATCCCC;CGTGCATCCCC)	0	common in clinvar
(I;I)	0	common genotype

Make rs794726688(-;-)

Make rs794726688(-;CGTGCATCCCC)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

150553817

Gene	ADAMTSL4, LOC100289061

is a	snp
is	mentioned by
dbSNP	rs794726688
dbSNP (classic)	rs794726688
ClinGen	rs794726688
ebi	rs794726688
HLI	rs794726688
Exac	rs794726688
Gnomad	rs794726688
Varsome	rs794726688
LitVar	rs794726688
Map	rs794726688
PheGenI	rs794726688
Biobank	rs794726688
1000 genomes	rs794726688
hgdp	rs794726688
ensembl	rs794726688
geneview	rs794726688
scholar	rs794726688
google	rs794726688
pharmgkb	rs794726688
gwascentral	rs794726688
openSNP	rs794726688
23andMe	rs794726688
SNPshot	rs794726688
SNPdbe	rs794726688
MSV3d	rs794726688
GWAS Ctlg	rs794726688

Max Magnitude

0

ClinVar
Risk	rs794726688(-;-) Rs794726688(CCGTGCATCCC;CCGTGCATCCC)
Alt	rs794726688(-;-) Rs794726688(CCGTGCATCCC;CCGTGCATCCC)
Reference	Rs794726688(CGTGCATCCCC;CGTGCATCCCC)
Significance	Pathogenic
Disease	Ectopia lentis Ectopia lentis et pupillae
Variation	info
Gene	LOC100289061 ADAMTSL4
CLNDBN	Ectopia lentis, isolated autosomal recessive Ectopia lentis et pupillae
Reversed	0
HGVS	NC_000001.10:g.150526293_150526303delCGTGCATCCCC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032755.3, RCV000032756.3,