Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121909129
rs121909129
KRT86
1.000 0.080 12 52306270 missense variant G/A snv
CUI: C0546966
Disease: Monilethrix
Monilethrix 		0.810 1.000 5 1997 2015
dbSNP: rs57419521
rs57419521
KRT81 ; KRT86
1.000 0.080 12 52287112 missense variant C/T snv 8.0E-06
CUI: C0546966
Disease: Monilethrix
Monilethrix 		0.810 1.000 3 1997 2015
dbSNP: rs121909130
rs121909130
KRT86
1.000 0.080 12 52306272 missense variant G/T snv
CUI: C0546966
Disease: Monilethrix
Monilethrix 		0.800 1.000 5 1997 2015
dbSNP: rs60687604
rs60687604
KRT86
1.000 0.080 12 52306237 missense variant G/A;C snv 4.0E-06
CUI: C0546966
Disease: Monilethrix
Monilethrix 		0.800 1.000 5 1997 2015
dbSNP: rs57802288
rs57802288
KRT83
1.000 0.080 12 52315936 stop gained C/A;T snv 8.0E-06
CUI: C0546966
Disease: Monilethrix
Monilethrix 		0.800 1.000 2 2005 2015
dbSNP: rs1438087533
rs1438087533
KRT83
1.000 0.080 12 52315903 missense variant C/T snv
CUI: C0546966
Disease: Monilethrix
Monilethrix 		0.800 0
dbSNP: rs56821304
rs56821304
KRT81 ; KRT86
1.000 0.080 12 52287145 missense variant C/G;T snv 4.9E-04
CUI: C0546966
Disease: Monilethrix
Monilethrix 		0.800 0
dbSNP: rs61091894
rs61091894
KRT86
1.000 0.080 12 52302256 missense variant A/C;G snv
CUI: C0546966
Disease: Monilethrix
Monilethrix 		0.800 0
dbSNP: rs771393943
rs771393943
KRT81 ; KRT86
1.000 0.080 12 52287127 missense variant G/A snv 1.2E-04 2.8E-05
CUI: C0546966
Disease: Monilethrix
Monilethrix 		0.700 0