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: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C1849221
Disease: Fair hair
Fair hair 		0.700 0
dbSNP: rs28940877
rs28940877
TYR ; LOC107984363
0.807 0.200 11 89178218 missense variant T/C snv 4.0E-06 2.1E-05
CUI: C1849221
Disease: Fair hair
Fair hair 		0.700 0
dbSNP: rs376823382
rs376823382
TYR ; LOC107984363
0.827 0.200 11 89284940 missense variant A/G snv 1.9E-04 2.2E-04
CUI: C1849221
Disease: Fair hair
Fair hair 		0.700 0
dbSNP: rs397507520
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv
CUI: C1849221
Disease: Fair hair
Fair hair 		0.700 0
dbSNP: rs886040971
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C1849221
Disease: Fair hair
Fair hair 		0.700 0