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

rs398122804

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398122804(A;T)
Make rs398122804(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position122337545
GeneCSTA
is asnp
is mentioned by
dbSNPrs398122804
ebirs398122804
HLIrs398122804
Exacrs398122804
Varsomers398122804
Maprs398122804
PheGenIrs398122804
hapmaprs398122804
1000 genomesrs398122804
hgdprs398122804
ensemblrs398122804
gopubmedrs398122804
geneviewrs398122804
scholarrs398122804
googlers398122804
pharmgkbrs398122804
gwascentralrs398122804
openSNPrs398122804
23andMers398122804
23andMe allrs398122804
SNP Nexus

SNPshotrs398122804
SNPdbers398122804
MSV3drs398122804
GWAS Ctlgrs398122804
Max Magnitude0
ClinVar
Risk rs398122804(T;T)
Alt rs398122804(T;T)
Reference rs398122804(A;A)
Significance Pathogenic
Disease Exfoliative ichthyosis
Variation info
Gene CSTA
CLNDBN Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like
Reversed 0
HGVS NC_000003.11:g.122056392A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022773.23,