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rs387906284

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906284(-;-)
Make rs387906284(-;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position214945021
GeneABCA12
is asnp
is mentioned by
dbSNPrs387906284
ebirs387906284
HLIrs387906284
Exacrs387906284
Varsomers387906284
Maprs387906284
PheGenIrs387906284
hapmaprs387906284
1000 genomesrs387906284
hgdprs387906284
ensemblrs387906284
gopubmedrs387906284
geneviewrs387906284
scholarrs387906284
googlers387906284
pharmgkbrs387906284
gwascentralrs387906284
openSNPrs387906284
23andMers387906284
23andMe allrs387906284
SNP Nexus

SNPshotrs387906284
SNPdbers387906284
MSV3drs387906284
GWAS Ctlgrs387906284
Max Magnitude0
ClinVar
Risk rs387906284(;)
Alt rs387906284(;)
Reference rs387906284(C;C)
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.215809745delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000002993.2,