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rs864309516

From SNPedia

Orientationminus
Make rs864309516(-;-)
Make rs864309516(-;TT)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position190322006
GeneCLDN1
is asnp
is mentioned by
dbSNPrs864309516
ebirs864309516
HLIrs864309516
Exacrs864309516
Varsomers864309516
Maprs864309516
PheGenIrs864309516
hapmaprs864309516
1000 genomesrs864309516
hgdprs864309516
ensemblrs864309516
gopubmedrs864309516
geneviewrs864309516
scholarrs864309516
googlers864309516
pharmgkbrs864309516
gwascentralrs864309516
openSNPrs864309516
23andMers864309516
23andMe allrs864309516
SNP Nexus

SNPshotrs864309516
SNPdbers864309516
MSV3drs864309516
GWAS Ctlgrs864309516
Max Magnitude
ClinVar
Risk rs864309516(;)
Alt rs864309516(;)
Reference rs864309516(TT;TT)
Significance Pathogenic
Disease Ichthyosis
Variation info
Gene CLDN1
CLNDBN Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
Reversed 1
HGVS NC_000003.11:g.190039795_190039796delAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000006461.3,