Source: CLINVAR

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: rs780261665
rs780261665
0.846 0.179 3 48590258 stop gained G/A snp 2.0E-05
CUI: C3887524
Disease: Skin Erosion
Skin Erosion
0.700 1 2015 2015
dbSNP: rs780261665
rs780261665
0.846 0.179 3 48590258 stop gained G/A snp 2.0E-05
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers
0.700 1 2015 2015
dbSNP: rs780261665
rs780261665
0.846 0.179 3 48590258 stop gained G/A snp 2.0E-05
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities
0.700 1 2015 2015
dbSNP: rs780261665
rs780261665
0.846 0.179 3 48590258 stop gained G/A snp 2.0E-05
CUI: C4024876
Disease: Palmoplantar blistering
Palmoplantar blistering
0.700 1 2015 2015
dbSNP: rs780261665
rs780261665
0.846 0.179 3 48590258 stop gained G/A snp 2.0E-05
CUI: C0600021
Disease: Nail absent (finding)
Nail absent (finding)
0.700 1 2015 2015
dbSNP: rs780261665
rs780261665
0.846 0.179 3 48590258 stop gained G/A snp 2.0E-05
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes
0.700 1 2015 2015
dbSNP: rs780261665
rs780261665
0.846 0.179 3 48590258 stop gained G/A snp 2.0E-05
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium
0.700 1 2015 2015
dbSNP: rs780261665
rs780261665
0.846 0.179 3 48590258 stop gained G/A snp 2.0E-05
CUI: C0241054
Disease: Skin bullae
Skin bullae
0.700 1 2015 2015
dbSNP: rs780261665
rs780261665
0.846 0.179 3 48590258 stop gained G/A snp 2.0E-05
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015