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rs786205345

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ACTC;ACTC) 0 common in clinvar
Make rs786205345(-;-)
Make rs786205345(-;TCAC)
Make rs786205345(TCAC;TCAC)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position43644619
GeneNNT
is asnp
is mentioned by
dbSNPrs786205345
dbSNP (classic)rs786205345
ClinGenrs786205345
ebirs786205345
HLIrs786205345
Exacrs786205345
Gnomadrs786205345
Varsomers786205345
LitVarrs786205345
Maprs786205345
PheGenIrs786205345
Biobankrs786205345
1000 genomesrs786205345
hgdprs786205345
ensemblrs786205345
geneviewrs786205345
scholarrs786205345
googlers786205345
pharmgkbrs786205345
gwascentralrs786205345
openSNPrs786205345
23andMers786205345
SNPshotrs786205345
SNPdbers786205345
MSV3drs786205345
GWAS Ctlgrs786205345
Max Magnitude0
ClinVar
Risk rs786205345(-;-)
Alt rs786205345(-;-)
Reference Rs786205345(ACTC;ACTC)
Significance Pathogenic
Disease Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency
Variation info
Gene NNT
CLNDBN Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency
Reversed 0
HGVS NC_000005.9:g.43644721_43644724delTCAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000029196.5,