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rs794726688

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CCGTGCATCCC;CCGTGCATCCC) 0 common in clinvar
(CGTGCATCCCC;CGTGCATCCCC) 0 common in clinvar
Make rs794726688(-;-)
Make rs794726688(-;CGTGCATCCCC)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position150553817
GeneADAMTSL4, LOC100289061
is asnp
is mentioned by
dbSNPrs794726688
dbSNP (old)rs794726688
ClinGenrs794726688
ebirs794726688
HLIrs794726688
Exacrs794726688
Varsomers794726688
Maprs794726688
PheGenIrs794726688
Biobankrs794726688
1000 genomesrs794726688
hgdprs794726688
ensemblrs794726688
gopubmedrs794726688
geneviewrs794726688
scholarrs794726688
googlers794726688
pharmgkbrs794726688
gwascentralrs794726688
openSNPrs794726688
23andMers794726688
23andMe allrs794726688
SNP Nexus

SNPshotrs794726688
SNPdbers794726688
MSV3drs794726688
GWAS Ctlgrs794726688
Max Magnitude0
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,