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rs767713084

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs767713084(C;T)
Make rs767713084(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome18
Position36156574
GeneELP2
is asnp
is mentioned by
dbSNPrs767713084
dbSNP (classic)rs767713084
ClinGenrs767713084
ebirs767713084
HLIrs767713084
Exacrs767713084
Gnomadrs767713084
Varsomers767713084
LitVarrs767713084
Maprs767713084
PheGenIrs767713084
Biobankrs767713084
1000 genomesrs767713084
hgdprs767713084
ensemblrs767713084
geneviewrs767713084
scholarrs767713084
googlers767713084
pharmgkbrs767713084
gwascentralrs767713084
openSNPrs767713084
23andMers767713084
SNPshotrs767713084
SNPdbers767713084
MSV3drs767713084
GWAS Ctlgrs767713084
Max Magnitude0
ClinVar
Risk rs767713084(T;T)
Alt rs767713084(T;T)
Reference Rs767713084(C;C)
Significance Pathogenic
Disease Inborn genetic diseases Mental retardation not provided
Variation info
Gene ELP2
CLNDBN Inborn genetic diseases Mental retardation, autosomal recessive 58 not provided
Reversed 0
HGVS NC_000018.9:g.33736537C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000210733.1, RCV000415555.1, RCV000442926.1,