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rs11891778

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs11891778(C;C)
Make rs11891778(C;G)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position215045850
GeneABCA12
is asnp
is mentioned by
dbSNPrs11891778
dbSNP (old)rs11891778
ClinGenrs11891778
ebirs11891778
HLIrs11891778
Exacrs11891778
Gnomadrs11891778
Varsomers11891778
Maprs11891778
PheGenIrs11891778
Biobankrs11891778
1000 genomesrs11891778
hgdprs11891778
ensemblrs11891778
gopubmedrs11891778
geneviewrs11891778
scholarrs11891778
googlers11891778
pharmgkbrs11891778
gwascentralrs11891778
openSNPrs11891778
23andMers11891778
23andMe allrs11891778
SNPshotrs11891778
SNPdbers11891778
MSV3drs11891778
GWAS Ctlgrs11891778
Max Magnitude0
? (C;C) (C;G) (G;G) 28
ClinVar
Risk rs11891778(A;A) rs11891778(C;C)
Alt rs11891778(A;A) rs11891778(C;C)
Reference Rs11891778(G;G)
Significance Pathogenic
Disease not provided Congenital ichthyosiform erythroderma
Variation info
Gene ABCA12
CLNDBN not provided Congenital ichthyosiform erythroderma
Reversed 0
HGVS NC_000002.11:g.215910574G>A; NC_000002.11:g.215910574G>C
CLNSRC Illumina
CLNACC RCV000255175.1, RCV000224893.1, RCV000293566.1,