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rs28940268

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 2 carrier for Lamellar ichthyosis, type 2
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome2
Position214986563
GeneABCA12
is asnp
is mentioned by
dbSNPrs28940268
ebirs28940268
HLIrs28940268
Exacrs28940268
Varsomers28940268
Maprs28940268
PheGenIrs28940268
hapmaprs28940268
1000 genomesrs28940268
hgdprs28940268
ensemblrs28940268
gopubmedrs28940268
geneviewrs28940268
scholarrs28940268
googlers28940268
pharmgkbrs28940268
gwascentralrs28940268
openSNPrs28940268
23andMers28940268
23andMe allrs28940268
SNP Nexus

SNPshotrs28940268
SNPdbers28940268
MSV3drs28940268
GWAS Ctlgrs28940268
Max Magnitude2
OMIM607800
DescICHTHYOSIS, LAMELLAR 2
Variant0001
Relatedalso
Neighborrs28940269
Distance3
ClinVar
Risk rs28940268(A;A)
Alt rs28940268(A;A)
Reference rs28940268(G;G)
Significance Pathogenic
Disease Autosomal recessive congenital ichthyosis 4A
Variation info
Gene ABCA12
CLNDBN Autosomal recessive congenital ichthyosis 4A
Reversed 1
HGVS NC_000002.11:g.215851287C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002988.2,


This is a recessive SNP for congenital Lamellar ichthyosis, type 2, also called ichthyosis-4A, a significant skin condition.