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rs869320632

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869320632(A;A)
Make rs869320632(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position96739883
GeneLMAN2L
is asnp
is mentioned by
dbSNPrs869320632
dbSNP (classic)rs869320632
ClinGenrs869320632
ebirs869320632
HLIrs869320632
Exacrs869320632
Gnomadrs869320632
Varsomers869320632
LitVarrs869320632
Maprs869320632
PheGenIrs869320632
Biobankrs869320632
1000 genomesrs869320632
hgdprs869320632
ensemblrs869320632
geneviewrs869320632
scholarrs869320632
googlers869320632
pharmgkbrs869320632
gwascentralrs869320632
openSNPrs869320632
23andMers869320632
SNPshotrs869320632
SNPdbers869320632
MSV3drs869320632
GWAS Ctlgrs869320632
Max Magnitude0
ClinVar
Risk rs869320632(A;A)
Alt rs869320632(A;A)
Reference Rs869320632(G;G)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene LMAN2L
CLNDBN Mental retardation, autosomal recessive 52
Reversed 1
HGVS NC_000002.11:g.97405620C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000210447.1,