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rs387906916

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906916(C;T)
Make rs387906916(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position79919443
GeneELOVL4
is asnp
is mentioned by
dbSNPrs387906916
ebirs387906916
HLIrs387906916
Exacrs387906916
Varsomers387906916
Maprs387906916
PheGenIrs387906916
hapmaprs387906916
1000 genomesrs387906916
hgdprs387906916
ensemblrs387906916
gopubmedrs387906916
geneviewrs387906916
scholarrs387906916
googlers387906916
pharmgkbrs387906916
gwascentralrs387906916
openSNPrs387906916
23andMers387906916
23andMe allrs387906916
SNP Nexus

SNPshotrs387906916
SNPdbers387906916
MSV3drs387906916
GWAS Ctlgrs387906916
Max Magnitude0
ClinVar
Risk rs387906916(T;T)
Alt rs387906916(T;T)
Reference rs387906916(C;C)
Significance Pathogenic
Disease Ichthyosis
Variation info
Gene ELOVL4
CLNDBN Ichthyosis, spastic quadriplegia, and mental retardation
Reversed 1
HGVS NC_000006.11:g.80629160G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023451.2,