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rs726070

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 1 Two copies of a variant now thought likely to benign
(A;G) 1 Carrier of a variant now thought likely to be benign
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/142
Chromosome2
Position214948607
GeneABCA12, LOC101928103
is asnp
is mentioned by
dbSNPrs726070
dbSNP (classic)rs726070
ClinGenrs726070
ebirs726070
HLIrs726070
Exacrs726070
Gnomadrs726070
Varsomers726070
LitVarrs726070
Maprs726070
PheGenIrs726070
Biobankrs726070
1000 genomesrs726070
hgdprs726070
ensemblrs726070
geneviewrs726070
scholarrs726070
googlers726070
pharmgkbrs726070
gwascentralrs726070
openSNPrs726070
23andMers726070
23andMe allrs726070
SNPshotrs726070
SNPdbers726070
MSV3drs726070
GWAS Ctlgrs726070
GMAF0.01974
Max Magnitude1

aka c.7093G>A (p.Asp2365Asn)

The variant allele was reported over a decade ago as being a recessive mutation associated with a form of ichthyosis; however, more recent annotations have come to the conclusion that it is actually likely to be benign, in part since it's seen far more frequently than would be expected given how rare the actual condition is.

? (A;A) (A;G) (G;G) 28


OMIM607800
Desc
Variant0008
Relatedalso


ClinVar
Risk Rs726070(A;A)
Alt Rs726070(A;A)
Reference Rs726070(G;G)
Significance Probable-non-pathogenic
Disease Autosomal recessive congenital ichthyosis 4B not specified Congenital ichthyosiform erythroderma
Variation info
Gene LOC101928103 ABCA12
CLNDBN Autosomal recessive congenital ichthyosis 4B not specified Congenital ichthyosiform erythroderma
Reversed 1
HGVS NC_000002.11:g.215813331C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002995.5, RCV000250672.1, RCV000293292.1,