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rs794726689

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726689(-;-)
Make rs794726689(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position150553058
GeneADAMTSL4, LOC100289061
is asnp
is mentioned by
dbSNPrs794726689
ebirs794726689
HLIrs794726689
Exacrs794726689
Varsomers794726689
Maprs794726689
PheGenIrs794726689
hapmaprs794726689
1000 genomesrs794726689
hgdprs794726689
ensemblrs794726689
gopubmedrs794726689
geneviewrs794726689
scholarrs794726689
googlers794726689
pharmgkbrs794726689
gwascentralrs794726689
openSNPrs794726689
23andMers794726689
23andMe allrs794726689
SNP Nexus

SNPshotrs794726689
SNPdbers794726689
MSV3drs794726689
GWAS Ctlgrs794726689
Max Magnitude0
ClinVar
Risk rs794726689(;)
Alt rs794726689(;)
Reference rs794726689(C;C)
Significance Pathogenic
Disease Ectopia lentis
Variation info
Gene LOC100289061 ADAMTSL4
CLNDBN Ectopia lentis, isolated autosomal recessive
Reversed 0
HGVS NC_000001.10:g.150525534delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000032758.4,