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rs28928897

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs28928897(A;A)
Make rs28928897(A;C)
Make rs28928897(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position41624229
GeneKRT17
is asnp
is mentioned by
dbSNPrs28928897
ebirs28928897
HLIrs28928897
Exacrs28928897
Varsomers28928897
Maprs28928897
PheGenIrs28928897
hapmaprs28928897
1000 genomesrs28928897
hgdprs28928897
ensemblrs28928897
gopubmedrs28928897
geneviewrs28928897
scholarrs28928897
googlers28928897
pharmgkbrs28928897
gwascentralrs28928897
openSNPrs28928897
23andMers28928897
23andMe allrs28928897
SNP Nexus

SNPshotrs28928897
SNPdbers28928897
MSV3drs28928897
GWAS Ctlgrs28928897
Max Magnitude0
OMIM148069
DescSTEATOCYSTOMA MULTIPLEX
Variant0005
Relatedalso
OMIM148069
DescPACHYONYCHIA CONGENITA, TYPE 2
Variant0009
Relatedalso
Neighborrs28928899
Distance3
Neighborrs28928896
Distance7
ClinVar
Risk rs28928897(A,C;A,C)
Alt rs28928897(A,C;A,C)
Reference rs28928897(G;G)
Significance Pathogenic
Disease Pachyonychia congenita type 2 not provided Steatocystoma multiplex
Variation info
Gene KRT17
CLNDBN Pachyonychia congenita type 2 not provided Steatocystoma multiplex
Reversed 1
HGVS NC_000017.10:g.39780481C>G; NC_000017.10:g.39780481C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015698.22, RCV000056516.1, RCV000015692.26, RCV000056515.1, RCV000114414.2,