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rs28940271

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
Position214980608
GeneABCA12
is asnp
is mentioned by
dbSNPrs28940271
ebirs28940271
HLIrs28940271
Exacrs28940271
Varsomers28940271
Maprs28940271
PheGenIrs28940271
hapmaprs28940271
1000 genomesrs28940271
hgdprs28940271
ensemblrs28940271
gopubmedrs28940271
geneviewrs28940271
scholarrs28940271
googlers28940271
pharmgkbrs28940271
gwascentralrs28940271
openSNPrs28940271
23andMers28940271
23andMe allrs28940271
SNP Nexus

SNPshotrs28940271
SNPdbers28940271
MSV3drs28940271
GWAS Ctlgrs28940271
Max Magnitude2
OMIM607800
DescICHTHYOSIS, LAMELLAR 2
Variant0005
Relatedalso


ClinVar
Risk rs28940271(A;A)
Alt rs28940271(A;A)
Reference rs28940271(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.215845332C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002992.2,



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