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rs149474339

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs149474339(C;T)
Make rs149474339(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position122341442
GeneCSTA
is asnp
is mentioned by
dbSNPrs149474339
ebirs149474339
HLIrs149474339
Exacrs149474339
Varsomers149474339
Maprs149474339
PheGenIrs149474339
hapmaprs149474339
1000 genomesrs149474339
hgdprs149474339
ensemblrs149474339
gopubmedrs149474339
geneviewrs149474339
scholarrs149474339
googlers149474339
pharmgkbrs149474339
gwascentralrs149474339
openSNPrs149474339
23andMers149474339
23andMe allrs149474339
SNP Nexus

SNPshotrs149474339
SNPdbers149474339
MSV3drs149474339
GWAS Ctlgrs149474339
Max Magnitude0
ClinVar
Risk rs149474339(T;T)
Alt rs149474339(T;T)
Reference rs149474339(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.122060289C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000190495.2,