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

rs387906689

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906689(C;T)
Make rs387906689(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position122341526
GeneCSTA
is asnp
is mentioned by
dbSNPrs387906689
ebirs387906689
HLIrs387906689
Exacrs387906689
Varsomers387906689
Maprs387906689
PheGenIrs387906689
hapmaprs387906689
1000 genomesrs387906689
hgdprs387906689
ensemblrs387906689
gopubmedrs387906689
geneviewrs387906689
scholarrs387906689
googlers387906689
pharmgkbrs387906689
gwascentralrs387906689
openSNPrs387906689
23andMers387906689
23andMe allrs387906689
SNP Nexus

SNPshotrs387906689
SNPdbers387906689
MSV3drs387906689
GWAS Ctlgrs387906689
Max Magnitude0
ClinVar
Risk rs387906689(T;T)
Alt rs387906689(T;T)
Reference rs387906689(C;C)
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.122060373C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022774.18,