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rs397514585

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514585(C;T)
Make rs397514585(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position77902657
GeneCOX7B
is asnp
is mentioned by
dbSNPrs397514585
ebirs397514585
HLIrs397514585
Exacrs397514585
Varsomers397514585
Maprs397514585
PheGenIrs397514585
hapmaprs397514585
1000 genomesrs397514585
hgdprs397514585
ensemblrs397514585
gopubmedrs397514585
geneviewrs397514585
scholarrs397514585
googlers397514585
pharmgkbrs397514585
gwascentralrs397514585
openSNPrs397514585
23andMers397514585
23andMe allrs397514585
SNP Nexus

SNPshotrs397514585
SNPdbers397514585
MSV3drs397514585
GWAS Ctlgrs397514585
Max Magnitude0
ClinVar
Risk rs397514585(T;T)
Alt rs397514585(T;T)
Reference rs397514585(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.77158154C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032988.3,