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rs137853289

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853289(C;T)
Make rs137853289(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position214953891
GeneABCA12
is asnp
is mentioned by
dbSNPrs137853289
ebirs137853289
HLIrs137853289
Exacrs137853289
Varsomers137853289
Maprs137853289
PheGenIrs137853289
hapmaprs137853289
1000 genomesrs137853289
hgdprs137853289
ensemblrs137853289
gopubmedrs137853289
geneviewrs137853289
scholarrs137853289
googlers137853289
pharmgkbrs137853289
gwascentralrs137853289
openSNPrs137853289
23andMers137853289
23andMe allrs137853289
SNP Nexus

SNPshotrs137853289
SNPdbers137853289
MSV3drs137853289
GWAS Ctlgrs137853289
Max Magnitude0
OMIM607800
Desc
Variant0009
Relatedalso
ClinVar
Risk rs137853289(T;T)
Alt rs137853289(T;T)
Reference rs137853289(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.215818615G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002996.2,