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rs747711488

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs747711488(A;T)
Make rs747711488(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position122325356
GeneCSTA
is asnp
is mentioned by
dbSNPrs747711488
ebirs747711488
HLIrs747711488
Exacrs747711488
Varsomers747711488
Maprs747711488
PheGenIrs747711488
hapmaprs747711488
1000 genomesrs747711488
hgdprs747711488
ensemblrs747711488
gopubmedrs747711488
geneviewrs747711488
scholarrs747711488
googlers747711488
pharmgkbrs747711488
gwascentralrs747711488
openSNPrs747711488
23andMers747711488
23andMe allrs747711488
SNP Nexus

SNPshotrs747711488
SNPdbers747711488
MSV3drs747711488
GWAS Ctlgrs747711488
Max Magnitude0
ClinVar
Risk rs747711488(T;T)
Alt rs747711488(T;T)
Reference rs747711488(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.122044203A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000190494.2,