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rs864309517

From SNPedia

Orientationminus
Make rs864309517(-;-)
Make rs864309517(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position190312902
GeneCLDN1
is asnp
is mentioned by
dbSNPrs864309517
ebirs864309517
HLIrs864309517
Exacrs864309517
Varsomers864309517
Maprs864309517
PheGenIrs864309517
hapmaprs864309517
1000 genomesrs864309517
hgdprs864309517
ensemblrs864309517
gopubmedrs864309517
geneviewrs864309517
scholarrs864309517
googlers864309517
pharmgkbrs864309517
gwascentralrs864309517
openSNPrs864309517
23andMers864309517
23andMe allrs864309517
SNP Nexus

SNPshotrs864309517
SNPdbers864309517
MSV3drs864309517
GWAS Ctlgrs864309517
Max Magnitude
ClinVar
Risk rs864309517(;)
Alt rs864309517(;)
Reference rs864309517(G;G)
Significance Pathogenic
Disease Ichthyosis
Variation info
Gene CLDN1
CLNDBN Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
Reversed 1
HGVS NC_000003.11:g.190030691delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000006462.3,