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rs397514583

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514583(-;-)
Make rs397514583(-;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position77905214
GeneCOX7B
is asnp
is mentioned by
dbSNPrs397514583
ebirs397514583
HLIrs397514583
Exacrs397514583
Varsomers397514583
Maprs397514583
PheGenIrs397514583
hapmaprs397514583
1000 genomesrs397514583
hgdprs397514583
ensemblrs397514583
gopubmedrs397514583
geneviewrs397514583
scholarrs397514583
googlers397514583
pharmgkbrs397514583
gwascentralrs397514583
openSNPrs397514583
23andMers397514583
23andMe allrs397514583
SNP Nexus

SNPshotrs397514583
SNPdbers397514583
MSV3drs397514583
GWAS Ctlgrs397514583
Max Magnitude0
ClinVar
Risk rs397514583(;)
Alt rs397514583(;)
Reference rs397514583(C;C)
Significance Pathogenic
Disease Linear skin defects with multiple congenital anomalies 2
Variation info
Gene COX7B
CLNDBN Linear skin defects with multiple congenital anomalies 2
Reversed 0
HGVS NC_000023.10:g.77160711delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000032986.6,