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rs28940568

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 2 Rs28940568
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome2
Position214978830
GeneABCA12
is asnp
is mentioned by
dbSNPrs28940568
ebirs28940568
HLIrs28940568
Exacrs28940568
Varsomers28940568
Maprs28940568
PheGenIrs28940568
hapmaprs28940568
1000 genomesrs28940568
hgdprs28940568
ensemblrs28940568
gopubmedrs28940568
geneviewrs28940568
scholarrs28940568
googlers28940568
pharmgkbrs28940568
gwascentralrs28940568
openSNPrs28940568
23andMers28940568
23andMe allrs28940568
SNP Nexus

SNPshotrs28940568
SNPdbers28940568
MSV3drs28940568
GWAS Ctlgrs28940568
Max Magnitude2
OMIM607800
DescICHTHYOSIS, LAMELLAR 2
Variant0003
Relatedalso

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


ClinVar
Risk rs28940568(A;A)
Alt rs28940568(A;A)
Reference rs28940568(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.215843554C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002990.2,