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rs387906285

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906285(-;-)
Make rs387906285(-;A)
ReferenceGRCh38 38.1/141
Chromosome2
Position214978432
GeneABCA12
is asnp
is mentioned by
dbSNPrs387906285
ebirs387906285
HLIrs387906285
Exacrs387906285
Varsomers387906285
Maprs387906285
PheGenIrs387906285
hapmaprs387906285
1000 genomesrs387906285
hgdprs387906285
ensemblrs387906285
gopubmedrs387906285
geneviewrs387906285
scholarrs387906285
googlers387906285
pharmgkbrs387906285
gwascentralrs387906285
openSNPrs387906285
23andMers387906285
23andMe allrs387906285
SNP Nexus

SNPshotrs387906285
SNPdbers387906285
MSV3drs387906285
GWAS Ctlgrs387906285
Max Magnitude0
ClinVar
Risk rs387906285(;)
Alt rs387906285(;)
Reference rs387906285(A;A)
Significance Pathogenic
Disease Autosomal recessive congenital ichthyosis 4B
Variation info
Gene ABCA12
CLNDBN Autosomal recessive congenital ichthyosis 4B
Reversed 1
HGVS NC_000002.11:g.215843156delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000002994.3,