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rs726070

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs726070(A;A)
Make rs726070(A;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position214948607
GeneABCA12
is asnp
is mentioned by
dbSNPrs726070
ebirs726070
HLIrs726070
Exacrs726070
Varsomers726070
Maprs726070
PheGenIrs726070
hapmaprs726070
1000 genomesrs726070
hgdprs726070
ensemblrs726070
gopubmedrs726070
geneviewrs726070
scholarrs726070
googlers726070
pharmgkbrs726070
gwascentralrs726070
openSNPrs726070
23andMers726070
23andMe allrs726070
SNP Nexus

SNPshotrs726070
SNPdbers726070
MSV3drs726070
GWAS Ctlgrs726070
GMAF0.01974
Max Magnitude0
? (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 Pathogenic
Disease Autosomal recessive congenital ichthyosis 4B
Variation info
Gene LOC101928103 ABCA12
CLNDBN Autosomal recessive congenital ichthyosis 4B
Reversed 1
HGVS NC_000002.11:g.215813331C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002995.4,



GET Evidence
ABCA12-D2365N
aa_change Asp2365Asn
aa_change_short D2365N
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0192415
summary