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: rs121913348
rs121913348
BRAF
0.763 0.480 7 140781617 missense variant C/A;G;T snv
CUI: C1832446
Disease: Sparse eyebrow
Sparse eyebrow 		0.700 1.000 1 2008 2008
dbSNP: rs1554122802
rs1554122802
FBN2
0.742 0.160 5 128335170 missense variant C/T snv
CUI: C1832446
Disease: Sparse eyebrow
Sparse eyebrow 		0.700 0
dbSNP: rs1557612048
rs1557612048
ARID1A
0.807 0.200 1 26767868 missense variant T/C snv
CUI: C1832446
Disease: Sparse eyebrow
Sparse eyebrow 		0.700 0
dbSNP: rs1568718508
rs1568718508
RIN2
1.000 0.200 20 19992201 frameshift variant -/C delins
CUI: C1832446
Disease: Sparse eyebrow
Sparse eyebrow 		0.700 0
dbSNP: rs757167361
rs757167361
DPH1
0.925 17 2030171 missense variant T/A;C;G snv
CUI: C1832446
Disease: Sparse eyebrow
Sparse eyebrow 		0.700 0
dbSNP: rs886040971
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C1832446
Disease: Sparse eyebrow
Sparse eyebrow 		0.700 0