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rs587776927

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587776927(A;A)
Make rs587776927(A;G)
ReferenceGRCh38 38.1/142
Chromosome1
Position150552897
GeneADAMTSL4, LOC100289061
is asnp
is mentioned by
dbSNPrs587776927
dbSNP (classic)rs587776927
ClinGenrs587776927
ebirs587776927
HLIrs587776927
Exacrs587776927
Gnomadrs587776927
Varsomers587776927
LitVarrs587776927
Maprs587776927
PheGenIrs587776927
Biobankrs587776927
1000 genomesrs587776927
hgdprs587776927
ensemblrs587776927
geneviewrs587776927
scholarrs587776927
googlers587776927
pharmgkbrs587776927
gwascentralrs587776927
openSNPrs587776927
23andMers587776927
SNPshotrs587776927
SNPdbers587776927
MSV3drs587776927
GWAS Ctlgrs587776927
Max Magnitude0
ClinVar
Risk rs587776927(A;A)
Alt rs587776927(A;A)
Reference Rs587776927(G;G)
Significance Pathogenic
Disease Ectopia lentis
Variation info
Gene LOC100289061 ADAMTSL4
CLNDBN Ectopia lentis, isolated autosomal recessive
Reversed 0
HGVS NC_000001.10:g.150525373G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000032752.3,