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rs119484087

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs119484087(A;T)
Make rs119484087(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position12995006
GeneELAC2
is asnp
is mentioned by
dbSNPrs119484087
dbSNP (classic)rs119484087
ClinGenrs119484087
ebirs119484087
HLIrs119484087
Exacrs119484087
Gnomadrs119484087
Varsomers119484087
LitVarrs119484087
Maprs119484087
PheGenIrs119484087
Biobankrs119484087
1000 genomesrs119484087
hgdprs119484087
ensemblrs119484087
geneviewrs119484087
scholarrs119484087
googlers119484087
pharmgkbrs119484087
gwascentralrs119484087
openSNPrs119484087
23andMers119484087
SNPshotrs119484087
SNPdbers119484087
MSV3drs119484087
GWAS Ctlgrs119484087
GMAF0.0004591
Max Magnitude0
OMIM605367
Desc
Variant0005
Relatedalso
ClinVar
Risk rs119484087(G;G) rs119484087(T;T)
Alt rs119484087(G;G) rs119484087(T;T)
Reference Rs119484087(A;A)
Significance Pathogenic
Disease Prostate cancer Combined oxidative phosphorylation deficiency 17
Variation info
Gene ELAC2
CLNDBN Prostate cancer, hereditary, 2 Combined oxidative phosphorylation deficiency 17
Reversed 1
HGVS NC_000017.10:g.12898323T>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005362.4, RCV000230766.1,