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rs28928899

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs28928899(A;A)
Make rs28928899(A;C)
Make rs28928899(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position41624226
GeneKRT17
is asnp
is mentioned by
dbSNPrs28928899
ebirs28928899
HLIrs28928899
Exacrs28928899
Varsomers28928899
Maprs28928899
PheGenIrs28928899
hapmaprs28928899
1000 genomesrs28928899
hgdprs28928899
ensemblrs28928899
gopubmedrs28928899
geneviewrs28928899
scholarrs28928899
googlers28928899
pharmgkbrs28928899
gwascentralrs28928899
openSNPrs28928899
23andMers28928899
23andMe allrs28928899
SNP Nexus

SNPshotrs28928899
SNPdbers28928899
MSV3drs28928899
GWAS Ctlgrs28928899
Max Magnitude0
OMIM148069
DescPACHYONYCHIA CONGENITA, TYPE 2
Variant0010
Relatedalso
Neighborrs28933088
Distance8
Neighborrs28928897
Distance3
OMIM148069
Desc
Variant0011
Relatedalso
ClinVar
Risk rs28928899(A,C;A,C)
Alt rs28928899(A,C;A,C)
Reference rs28928899(T;T)
Significance Pathogenic
Disease Pachyonychia congenita type 2 not provided
Variation info
Gene KRT17
CLNDBN Pachyonychia congenita type 2 not provided
Reversed 1
HGVS NC_000017.10:g.39780478A>G; NC_000017.10:g.39780478A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015700.26, RCV000056518.1, RCV000015699.22, RCV000056517.1,