Have questions? Visit https://www.reddit.com/r/SNPedia

rs267606622

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606622(A;A)
Make rs267606622(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position214990791
GeneABCA12
is asnp
is mentioned by
dbSNPrs267606622
ebirs267606622
HLIrs267606622
Exacrs267606622
Varsomers267606622
Maprs267606622
PheGenIrs267606622
hapmaprs267606622
1000 genomesrs267606622
hgdprs267606622
ensemblrs267606622
gopubmedrs267606622
geneviewrs267606622
scholarrs267606622
googlers267606622
pharmgkbrs267606622
gwascentralrs267606622
openSNPrs267606622
23andMers267606622
23andMe allrs267606622
SNP Nexus

SNPshotrs267606622
SNPdbers267606622
MSV3drs267606622
GWAS Ctlgrs267606622
Max Magnitude0
ClinVar
Risk rs267606622(A;A)
Alt rs267606622(A;A)
Reference rs267606622(G;G)
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.215855515C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002997.2,