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rs1057519339

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(AC;AC) 0 common in clinvar
Make rs1057519339(-;-)
Make rs1057519339(-;CA)
Make rs1057519339(CA;CA)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position15055216
GeneCASP14
is asnp
is mentioned by
dbSNPrs1057519339
dbSNP (old)rs1057519339
ClinGenrs1057519339
ebirs1057519339
HLIrs1057519339
Exacrs1057519339
Gnomadrs1057519339
Varsomers1057519339
Maprs1057519339
PheGenIrs1057519339
Biobankrs1057519339
1000 genomesrs1057519339
hgdprs1057519339
ensemblrs1057519339
gopubmedrs1057519339
geneviewrs1057519339
scholarrs1057519339
googlers1057519339
pharmgkbrs1057519339
gwascentralrs1057519339
openSNPrs1057519339
23andMers1057519339
23andMe allrs1057519339
SNPshotrs1057519339
SNPdbers1057519339
MSV3drs1057519339
GWAS Ctlgrs1057519339
Max Magnitude0
ClinVar
Risk rs1057519339(-;-)
Alt rs1057519339(-;-)
Reference Rs1057519339(AC;AC)
Significance Pathogenic
Disease Ichthyosis
Variation info
Gene CASP14
CLNDBN Ichthyosis, congenital, autosomal recessive 12
Reversed 0
HGVS NC_000019.9:g.15166027_15166028delCA
CLNSRC OMIM Allelic Variant
CLNACC RCV000416366.1,