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rs368482584

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs368482584(C;T)
Make rs368482584(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position150557296
GeneADAMTSL4, LOC100289061
is asnp
is mentioned by
dbSNPrs368482584
dbSNP (classic)rs368482584
ClinGenrs368482584
ebirs368482584
HLIrs368482584
Exacrs368482584
Gnomadrs368482584
Varsomers368482584
LitVarrs368482584
Maprs368482584
PheGenIrs368482584
Biobankrs368482584
1000 genomesrs368482584
hgdprs368482584
ensemblrs368482584
geneviewrs368482584
scholarrs368482584
googlers368482584
pharmgkbrs368482584
gwascentralrs368482584
openSNPrs368482584
23andMers368482584
SNPshotrs368482584
SNPdbers368482584
MSV3drs368482584
GWAS Ctlgrs368482584
Max Magnitude0
ClinVar
Risk rs368482584(T;T)
Alt rs368482584(T;T)
Reference Rs368482584(C;C)
Significance Pathogenic
Disease Ectopia lentis
Variation info
Gene ADAMTSL4
CLNDBN Ectopia lentis, isolated autosomal recessive
Reversed 0
HGVS NC_000001.10:g.150529772C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032757.2,