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rs587776818

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GCCTGGCCTCCTACCT;GCCTGGCCTCCTACCT) 0 common in clinvar
(GGTAGGAGGCCAGGC;GGTAGGAGGCCAGGC) 0 common in clinvar
Make rs587776818(-;-)
Make rs587776818(-;GGTAGGAGGCCAGGC)
ReferenceGRCh38 38.1/142
Chromosome17
Position41624215
GeneKRT17
is asnp
is mentioned by
dbSNPrs587776818
ebirs587776818
HLIrs587776818
Exacrs587776818
Varsomers587776818
Maprs587776818
PheGenIrs587776818
hapmaprs587776818
1000 genomesrs587776818
hgdprs587776818
ensemblrs587776818
gopubmedrs587776818
geneviewrs587776818
scholarrs587776818
googlers587776818
pharmgkbrs587776818
gwascentralrs587776818
openSNPrs587776818
23andMers587776818
23andMe allrs587776818
SNP Nexus

SNPshotrs587776818
SNPdbers587776818
MSV3drs587776818
GWAS Ctlgrs587776818
Max Magnitude0
ClinVar
Risk rs587776818(GGTAGGAGGCCAGGCT,T;GGTAGGAGGCCAGGCT,T)
Alt rs587776818(GGTAGGAGGCCAGGCT,T;GGTAGGAGGCCAGGCT,T)
Reference rs587776818(GCCTGGCCTCCTACCT;GCCTGGCCTCCTACCT)
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.39780467_39780481delGGTAGGAGGCCAGGC
CLNSRC OMIM Allelic Variant
CLNACC RCV000015697.26, RCV000056514.1,