rs726070

minus

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

Reference

GRCh38 38.1/142

Chromosome

2

Position

214948607

Gene	ABCA12, LOC101928103

is a	snp
is	mentioned by
dbSNP	rs726070
dbSNP (classic)	rs726070
ClinGen	rs726070
ebi	rs726070
HLI	rs726070
Exac	rs726070
Gnomad	rs726070
Varsome	rs726070
LitVar	rs726070
Map	rs726070
PheGenI	rs726070
Biobank	rs726070
1000 genomes	rs726070
hgdp	rs726070
ensembl	rs726070
geneview	rs726070
scholar	rs726070
google	rs726070
pharmgkb	rs726070
gwascentral	rs726070
openSNP	rs726070
23andMe	rs726070
SNPshot	rs726070
SNPdbe	rs726070
MSV3d	rs726070
GWAS Ctlg	rs726070

GMAF

0.01974

Max Magnitude

1

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

OMIM	607800
Desc
Variant	0008
Related	also

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,