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rs606231303

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs606231303(C;T)
Make rs606231303(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position11174532
GeneKANK2
is asnp
is mentioned by
dbSNPrs606231303
dbSNP (classic)rs606231303
ClinGenrs606231303
ebirs606231303
HLIrs606231303
Exacrs606231303
Gnomadrs606231303
Varsomers606231303
LitVarrs606231303
Maprs606231303
PheGenIrs606231303
Biobankrs606231303
1000 genomesrs606231303
hgdprs606231303
ensemblrs606231303
geneviewrs606231303
scholarrs606231303
googlers606231303
pharmgkbrs606231303
gwascentralrs606231303
openSNPrs606231303
23andMers606231303
SNPshotrs606231303
SNPdbers606231303
MSV3drs606231303
GWAS Ctlgrs606231303
Max Magnitude0
ClinVar
Risk rs606231303(T;T)
Alt rs606231303(T;T)
Reference Rs606231303(C;C)
Significance Pathogenic
Disease Palmoplantar keratoderma and woolly hair
Variation info
Gene KANK2
CLNDBN Palmoplantar keratoderma and woolly hair
Reversed 1
HGVS NC_000019.9:g.11285208G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000145417.3,