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rs786205878

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs786205878(-;-)
Make rs786205878(-;TACGTGGACAAGC)
Make rs786205878(TACGTGGACAAGC;TACGTGGACAAGC)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position75981111
GenePOR
is asnp
is mentioned by
dbSNPrs786205878
ebirs786205878
HLIrs786205878
Exacrs786205878
Varsomers786205878
Maprs786205878
PheGenIrs786205878
hapmaprs786205878
1000 genomesrs786205878
hgdprs786205878
ensemblrs786205878
gopubmedrs786205878
geneviewrs786205878
scholarrs786205878
googlers786205878
pharmgkbrs786205878
gwascentralrs786205878
openSNPrs786205878
23andMers786205878
23andMe allrs786205878
SNP Nexus

SNPshotrs786205878
SNPdbers786205878
MSV3drs786205878
GWAS Ctlgrs786205878
Max Magnitude0
ClinVar
Risk rs786205878(TACGTGGACAAGC;TACGTGGACAAGC)
Alt rs786205878(TACGTGGACAAGC;TACGTGGACAAGC)
Reference rs786205878(;)
Significance Pathogenic
Disease Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Variation info
Gene POR
CLNDBN Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Reversed 0
HGVS NC_000007.13:g.75610417_75610429dupTACGTGGACAAGC
CLNSRC OMIM Allelic Variant
CLNACC RCV000018414.24,