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rs28928896

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0
Make rs28928896(A;C)
Make rs28928896(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position41624236
GeneKRT17
is asnp
is mentioned by
dbSNPrs28928896
ebirs28928896
HLIrs28928896
Exacrs28928896
Varsomers28928896
Maprs28928896
PheGenIrs28928896
hapmaprs28928896
1000 genomesrs28928896
hgdprs28928896
ensemblrs28928896
gopubmedrs28928896
geneviewrs28928896
scholarrs28928896
googlers28928896
pharmgkbrs28928896
gwascentralrs28928896
openSNPrs28928896
23andMers28928896
23andMe allrs28928896
SNP Nexus

SNPshotrs28928896
SNPdbers28928896
MSV3drs28928896
GWAS Ctlgrs28928896
Max Magnitude0
OMIM148069
DescSTEATOCYSTOMA MULTIPLEX
Variant0004
Relatedalso

During some blast and clustalw analysis of the watson genome, this snp is an outlier. It appears to occur in a fairly well conserved region, which appears slightly differently at several places in the genome.

Neighborrs28928897
Distance7
Neighborrs28928898
Distance11
OMIM148069
Desc
Variant0001
Relatedalso


ClinVar
Risk rs28928896(C,G;C,G)
Alt rs28928896(C,G;C,G)
Reference rs28928896(A;A)
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.39780488T>C; NC_000017.10:g.39780488T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015688.27, RCV000056510.1, RCV000015691.26, RCV000056509.1,