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rs773432002

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs773432002(A;G)
Make rs773432002(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome18
Position36142309
GeneELP2
is asnp
is mentioned by
dbSNPrs773432002
dbSNP (classic)rs773432002
ClinGenrs773432002
ebirs773432002
HLIrs773432002
Exacrs773432002
Gnomadrs773432002
Varsomers773432002
LitVarrs773432002
Maprs773432002
PheGenIrs773432002
Biobankrs773432002
1000 genomesrs773432002
hgdprs773432002
ensemblrs773432002
geneviewrs773432002
scholarrs773432002
googlers773432002
pharmgkbrs773432002
gwascentralrs773432002
openSNPrs773432002
23andMers773432002
SNPshotrs773432002
SNPdbers773432002
MSV3drs773432002
GWAS Ctlgrs773432002
Max Magnitude0
ClinVar
Risk rs773432002(G;G)
Alt rs773432002(G;G)
Reference Rs773432002(A;A)
Significance Pathogenic
Disease Inborn genetic diseases Mental retardation
Variation info
Gene ELP2
CLNDBN Inborn genetic diseases Mental retardation, autosomal recessive 58
Reversed 0
HGVS NC_000018.9:g.33722272A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000210560.1, RCV000415587.1,