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rs61757294

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs61757294(A;G)
Make rs61757294(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position142912850
GeneCYP11B2
is asnp
is mentioned by
dbSNPrs61757294
ebirs61757294
HLIrs61757294
Exacrs61757294
Varsomers61757294
Maprs61757294
PheGenIrs61757294
hapmaprs61757294
1000 genomesrs61757294
hgdprs61757294
ensemblrs61757294
gopubmedrs61757294
geneviewrs61757294
scholarrs61757294
googlers61757294
pharmgkbrs61757294
gwascentralrs61757294
openSNPrs61757294
23andMers61757294
23andMe allrs61757294
SNP Nexus

SNPshotrs61757294
SNPdbers61757294
MSV3drs61757294
GWAS Ctlgrs61757294
GMAF0.04316
Max Magnitude0
OMIM124080
Desc
Variant0001
Relatedalso


ClinVar
Risk rs61757294(G;G)
Alt rs61757294(G;G)
Reference rs61757294(A;A)
Significance Pathogenic
Disease Corticosterone methyloxidase type 2 deficiency Corticosterone methyloxidase type 1 deficiency
Variation info
Gene CYP11B2
CLNDBN Corticosterone methyloxidase type 2 deficiency Corticosterone methyloxidase type 1 deficiency
Reversed 0
HGVS NC_000008.10:g.143994266A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018372.27, RCV000018373.27,



GET Evidence
CYP11B2-V386A
aa_change Val386Ala
aa_change_short V386A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0634065
summary