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rs57674130

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CGCCTGGCCTCCTAC;CGCCTGGCCTCCTAC) 0 common in clinvar
(GCCTGGCCTCCTACC;GCCTGGCCTCCTACC) 0 common in clinvar
Make rs57674130(-;-)
Make rs57674130(-;CGCCTGGCCTCCTAC)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position41624216
GeneKRT17
is asnp
is mentioned by
dbSNPrs57674130
dbSNP (old)rs57674130
ClinGenrs57674130
ebirs57674130
HLIrs57674130
Exacrs57674130
Varsomers57674130
Maprs57674130
PheGenIrs57674130
Biobankrs57674130
1000 genomesrs57674130
hgdprs57674130
ensemblrs57674130
gopubmedrs57674130
geneviewrs57674130
scholarrs57674130
googlers57674130
pharmgkbrs57674130
gwascentralrs57674130
openSNPrs57674130
23andMers57674130
23andMe allrs57674130
SNP Nexus

SNPshotrs57674130
SNPdbers57674130
MSV3drs57674130
GWAS Ctlgrs57674130
Merged fromRs587776818
Max Magnitude0
ClinVar
Risk Rs57674130(GCCTGGCCTCCTACC;GCCTGGCCTCCTACC) rs57674130(-;-)
Alt Rs57674130(GCCTGGCCTCCTACC;GCCTGGCCTCCTACC) rs57674130(-;-)
Reference Rs57674130(CGCCTGGCCTCCTAC;CGCCTGGCCTCCTAC)
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 RCV000015697.27, RCV000056514.1,