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rs587777717

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAT;AAT) 0 common in clinvar
(TT;TT) 0 common in clinvar
Make rs587777717(CC;CC)
Make rs587777717(CC;TT)
ReferenceGRCh38 38.1/142
Chromosome17
Position41612315
GeneKRT16
is asnp
is mentioned by
dbSNPrs587777717
ebirs587777717
HLIrs587777717
Exacrs587777717
Varsomers587777717
Maprs587777717
PheGenIrs587777717
hapmaprs587777717
1000 genomesrs587777717
hgdprs587777717
ensemblrs587777717
gopubmedrs587777717
geneviewrs587777717
scholarrs587777717
googlers587777717
pharmgkbrs587777717
gwascentralrs587777717
openSNPrs587777717
23andMers587777717
23andMe allrs587777717
SNP Nexus

SNPshotrs587777717
SNPdbers587777717
MSV3drs587777717
GWAS Ctlgrs587777717
Max Magnitude0
ClinVar
Risk rs587777717(CCT,TTT;CCT,TTT)
Alt rs587777717(CCT,TTT;CCT,TTT)
Reference rs587777717(AAT;AAT)
Significance Pathogenic
Disease Pachyonychia congenita
Variation info
Gene KRT16
CLNDBN Pachyonychia congenita, type 1
Reversed 1
HGVS NC_000017.10:g.39768567_39768568delTTinsCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000144082.2,