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rs28940269

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs28940269(A;G)
Make rs28940269(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position214986566
GeneABCA12
is asnp
is mentioned by
dbSNPrs28940269
ebirs28940269
HLIrs28940269
Exacrs28940269
Varsomers28940269
Maprs28940269
PheGenIrs28940269
hapmaprs28940269
1000 genomesrs28940269
hgdprs28940269
ensemblrs28940269
gopubmedrs28940269
geneviewrs28940269
scholarrs28940269
googlers28940269
pharmgkbrs28940269
gwascentralrs28940269
openSNPrs28940269
23andMers28940269
23andMe allrs28940269
SNP Nexus

SNPshotrs28940269
SNPdbers28940269
MSV3drs28940269
GWAS Ctlgrs28940269
Max Magnitude0
OMIM607800
DescICHTHYOSIS, LAMELLAR 2
Variant0002
Relatedalso
Neighborrs28940268
Distance3


ClinVar
Risk rs28940269(G;G)
Alt rs28940269(G;G)
Reference rs28940269(A;A)
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.215851290T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002989.3,



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