rs199473693

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AGGCCTCTGGCACAGAGCCC;AGGCCTCTGGCACAGAGCCC)	0	common in clinvar
(CAGAGCCCAGGCCTCTGGCA;CAGAGCCCAGGCCTCTGGCA)	0	common in clinvar

Make rs199473693(-;-)

Make rs199473693(-;AGGCCTCTGGCACAGAGCCC)

Reference

GRCh38 38.1/141

Chromosome

1

Position

150553758

Gene	ADAMTSL4, LOC100289061

is a	snp
is	mentioned by
dbSNP	rs199473693
dbSNP (classic)	rs199473693
ClinGen	rs199473693
ebi	rs199473693
HLI	rs199473693
Exac	rs199473693
Gnomad	rs199473693
Varsome	rs199473693
LitVar	rs199473693
Map	rs199473693
PheGenI	rs199473693
Biobank	rs199473693
1000 genomes	rs199473693
hgdp	rs199473693
ensembl	rs199473693
geneview	rs199473693
scholar	rs199473693
google	rs199473693
pharmgkb	rs199473693
gwascentral	rs199473693
openSNP	rs199473693
23andMe	rs199473693
SNPshot	rs199473693
SNPdbe	rs199473693
MSV3d	rs199473693
GWAS Ctlg	rs199473693

Max Magnitude

0

ClinVar
Risk	rs199473693(-;-) Rs199473693(CAGAGCCCAGGCCTCTGGCA;CAGAGCCCAGGCCTCTGGCA)
Alt	rs199473693(-;-) Rs199473693(CAGAGCCCAGGCCTCTGGCA;CAGAGCCCAGGCCTCTGGCA)
Reference	Rs199473693(AGGCCTCTGGCACAGAGCCC;AGGCCTCTGGCACAGAGCCC)
Significance	Pathogenic
Disease	Ectopia lentis et pupillae Ectopia lentis not provided
Variation	info
Gene	LOC100289061 ADAMTSL4
CLNDBN	Ectopia lentis et pupillae Ectopia lentis, isolated autosomal recessive not provided
Reversed	0
HGVS	NC_000001.10:g.150526234_150526253del20
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032753.4, RCV000032754.5, RCV000336254.2,