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rs137853024

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853024(A;A)
Make rs137853024(A;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position8073678
GeneALOX12B
is asnp
is mentioned by
dbSNPrs137853024
ebirs137853024
HLIrs137853024
Exacrs137853024
Varsomers137853024
Maprs137853024
PheGenIrs137853024
hapmaprs137853024
1000 genomesrs137853024
hgdprs137853024
ensemblrs137853024
gopubmedrs137853024
geneviewrs137853024
scholarrs137853024
googlers137853024
pharmgkbrs137853024
gwascentralrs137853024
openSNPrs137853024
23andMers137853024
23andMe allrs137853024
SNP Nexus

SNPshotrs137853024
SNPdbers137853024
MSV3drs137853024
GWAS Ctlgrs137853024
Max Magnitude0
OMIM603741
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137853024(A;A)
Alt rs137853024(A;A)
Reference rs137853024(C;C)
Significance Pathogenic
Disease Autosomal recessive congenital ichthyosis 2
Variation info
Gene ALOX12B
CLNDBN Autosomal recessive congenital ichthyosis 2
Reversed 1
HGVS NC_000017.10:g.7976996G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006457.2,