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rs118203985

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118203985(G;G)
Make rs118203985(G;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position150556974
GeneADAMTSL4, LOC100289061
is asnp
is mentioned by
dbSNPrs118203985
dbSNP (classic)rs118203985
ClinGenrs118203985
ebirs118203985
HLIrs118203985
Exacrs118203985
Gnomadrs118203985
Varsomers118203985
LitVarrs118203985
Maprs118203985
PheGenIrs118203985
Biobankrs118203985
1000 genomesrs118203985
hgdprs118203985
ensemblrs118203985
geneviewrs118203985
scholarrs118203985
googlers118203985
pharmgkbrs118203985
gwascentralrs118203985
openSNPrs118203985
23andMers118203985
SNPshotrs118203985
SNPdbers118203985
MSV3drs118203985
GWAS Ctlgrs118203985
Max Magnitude0
OMIM610113
Desc
Variant0001
Relatedalso
ClinVar
Risk rs118203985(G;G)
Alt rs118203985(G;G)
Reference Rs118203985(T;T)
Significance Pathogenic
Disease Ectopia lentis
Variation info
Gene ADAMTSL4 LOC100289061
CLNDBN Ectopia lentis, isolated autosomal recessive
Reversed 0
HGVS NC_000001.10:g.150529450T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001414.3,