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rs28940270

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
Position214982225
GeneABCA12
is asnp
is mentioned by
dbSNPrs28940270
ebirs28940270
HLIrs28940270
Exacrs28940270
Varsomers28940270
Maprs28940270
PheGenIrs28940270
hapmaprs28940270
1000 genomesrs28940270
hgdprs28940270
ensemblrs28940270
gopubmedrs28940270
geneviewrs28940270
scholarrs28940270
googlers28940270
pharmgkbrs28940270
gwascentralrs28940270
openSNPrs28940270
23andMers28940270
23andMe allrs28940270
SNP Nexus

SNPshotrs28940270
SNPdbers28940270
MSV3drs28940270
GWAS Ctlgrs28940270
Max Magnitude2
OMIM607800
DescICHTHYOSIS, LAMELLAR 2
Variant0004
Relatedalso


ClinVar
Risk rs28940270(A;A)
Alt rs28940270(A;A)
Reference rs28940270(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.215846949C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002991.2,



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