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rs587777598

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777598(C;G)
ReferenceGRCh38 38.1/142
Chromosome6
Position79921662
GeneELOVL4
is asnp
is mentioned by
dbSNPrs587777598
ClinGenrs587777598
ebirs587777598
HLIrs587777598
Exacrs587777598
Varsomers587777598
Maprs587777598
PheGenIrs587777598
hapmaprs587777598
1000 genomesrs587777598
hgdprs587777598
ensemblrs587777598
gopubmedrs587777598
geneviewrs587777598
scholarrs587777598
googlers587777598
pharmgkbrs587777598
gwascentralrs587777598
openSNPrs587777598
23andMers587777598
23andMe allrs587777598
SNP Nexus

SNPshotrs587777598
SNPdbers587777598
MSV3drs587777598
GWAS Ctlgrs587777598
Max Magnitude0
ClinVar
Risk Rs587777598(C;C) rs587777598(T;T)
Alt Rs587777598(C;C) rs587777598(T;T)
Reference Rs587777598(G;G)
Significance Pathogenic
Disease Erythrokeratodermia with ataxia
Variation info
Gene ELOVL4
CLNDBN Erythrokeratodermia with ataxia
Reversed 1
HGVS NC_000006.11:g.80631379C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000132563.4,