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

rs786205120

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786205120(G;T)
Make rs786205120(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position8111474
GeneALOXE3
is asnp
is mentioned by
dbSNPrs786205120
ebirs786205120
HLIrs786205120
Exacrs786205120
Varsomers786205120
Maprs786205120
PheGenIrs786205120
hapmaprs786205120
1000 genomesrs786205120
hgdprs786205120
ensemblrs786205120
gopubmedrs786205120
geneviewrs786205120
scholarrs786205120
googlers786205120
pharmgkbrs786205120
gwascentralrs786205120
openSNPrs786205120
23andMers786205120
23andMe allrs786205120
SNP Nexus

SNPshotrs786205120
SNPdbers786205120
MSV3drs786205120
GWAS Ctlgrs786205120
Max Magnitude0
ClinVar
Risk rs786205120(T;T)
Alt rs786205120(T;T)
Reference rs786205120(G;G)
Significance Pathogenic
Disease Autosomal recessive congenital ichthyosis 3
Variation info
Gene ALOXE3
CLNDBN Autosomal recessive congenital ichthyosis 3
Reversed 1
HGVS NC_000017.10:g.8014792C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000032746.3,