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rs370031870

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs370031870(A;A)
Make rs370031870(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position8115623
GeneALOXE3
is asnp
is mentioned by
dbSNPrs370031870
dbSNP (classic)rs370031870
ClinGenrs370031870
ebirs370031870
HLIrs370031870
Exacrs370031870
Gnomadrs370031870
Varsomers370031870
LitVarrs370031870
Maprs370031870
PheGenIrs370031870
Biobankrs370031870
1000 genomesrs370031870
hgdprs370031870
ensemblrs370031870
geneviewrs370031870
scholarrs370031870
googlers370031870
pharmgkbrs370031870
gwascentralrs370031870
openSNPrs370031870
23andMers370031870
SNPshotrs370031870
SNPdbers370031870
MSV3drs370031870
GWAS Ctlgrs370031870
Max Magnitude0
ClinVar
Risk rs370031870(A;A)
Alt rs370031870(A;A)
Reference Rs370031870(G;G)
Significance Pathogenic
Disease Autosomal recessive congenital ichthyosis 3
Variation info
Gene ALOXE3
CLNDBN Autosomal recessive congenital ichthyosis 3
Reversed 0
HGVS NC_000017.10:g.8018941G>A
CLNSRC
CLNACC RCV000201260.1,