Have questions? Visit https://www.reddit.com/r/SNPedia

rs786205225

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786205225(C;T)
Make rs786205225(T;T)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position47142690
GeneNDUFB11
is asnp
is mentioned by
dbSNPrs786205225
ebirs786205225
HLIrs786205225
Exacrs786205225
Varsomers786205225
Maprs786205225
PheGenIrs786205225
hapmaprs786205225
1000 genomesrs786205225
hgdprs786205225
ensemblrs786205225
gopubmedrs786205225
geneviewrs786205225
scholarrs786205225
googlers786205225
pharmgkbrs786205225
gwascentralrs786205225
openSNPrs786205225
23andMers786205225
23andMe allrs786205225
SNP Nexus

SNPshotrs786205225
SNPdbers786205225
MSV3drs786205225
GWAS Ctlgrs786205225
Max Magnitude0
ClinVar
Risk rs786205225(T;T)
Alt rs786205225(T;T)
Reference rs786205225(C;C)
Significance Pathogenic
Disease Linear skin defects with multiple congenital anomalies 3
Variation info
Gene NDUFB11
CLNDBN Linear skin defects with multiple congenital anomalies 3
Reversed 1
HGVS NC_000023.10:g.47002089G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000170490.3,