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rs786205141

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786205141(-;-)
Make rs786205141(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position96762313
GeneCAST, ERAP1
is asnp
is mentioned by
dbSNPrs786205141
dbSNP (classic)rs786205141
ClinGenrs786205141
ebirs786205141
HLIrs786205141
Exacrs786205141
Gnomadrs786205141
Varsomers786205141
LitVarrs786205141
Maprs786205141
PheGenIrs786205141
Biobankrs786205141
1000 genomesrs786205141
hgdprs786205141
ensemblrs786205141
geneviewrs786205141
scholarrs786205141
googlers786205141
pharmgkbrs786205141
gwascentralrs786205141
openSNPrs786205141
23andMers786205141
SNPshotrs786205141
SNPdbers786205141
MSV3drs786205141
GWAS Ctlgrs786205141
Max Magnitude0
ClinVar
Risk rs786205141(-;-)
Alt rs786205141(-;-)
Reference Rs786205141(C;C)
Significance Pathogenic
Disease Peeling skin with leukonychia
Variation info
Gene CAST ERAP1
CLNDBN Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads
Reversed 1
HGVS NC_000005.9:g.96098017delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000169752.3,