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: rs1057516030
rs1057516030
DYRK1A ; LOC105372797
0.807 0.280 21 37480785 stop gained -/A delins
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		0.700 0
dbSNP: rs1057518863
rs1057518863
COL7A1
0.925 0.120 3 48567190 missense variant C/A;T snv
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		0.700 0
dbSNP: rs1057518960
rs1057518960
GJA1
0.882 0.160 6 121447333 missense variant G/C snv
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		0.700 0
dbSNP: rs1567552713
rs1567552713
MYH3
0.827 0.120 17 10633590 splice donor variant C/T snv
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		0.700 0
dbSNP: rs387907145
rs387907145
ROGDI
0.695 0.440 16 4800548 stop gained G/A snv
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		0.700 0
dbSNP: rs557849165
rs557849165
MYH3
0.776 0.160 17 10656089 splice donor variant C/T snv 1.2E-03
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		0.700 0
dbSNP: rs767978562
rs767978562
FREM2
0.790 0.320 13 38851093 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		0.700 0
dbSNP: rs780261665
rs780261665
COL7A1
0.827 0.200 3 48590258 stop gained G/A snv 2.0E-05 1.4E-05
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		0.700 0
dbSNP: rs786205124
rs786205124
ROGDI
0.701 0.400 16 4798593 frameshift variant G/-;GGG delins 3.5E-05
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		0.700 0
dbSNP: rs886039795
rs886039795
TMEM256 ; TMEM256-PLSCR3
0.851 0.160 17 7403143 frameshift variant CACTCAGAGCCTGGTAGTAAAA/- del
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		0.700 0