Source: BEFREE

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: rs78311289
rs78311289
FGFR3
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		0.720 1.000 2 2007 2011
dbSNP: rs121913105
rs121913105
FGFR3
0.653 0.600 4 1806163 missense variant A/C;T snv
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		0.040 1.000 4 1999 2018
dbSNP: rs28931615
rs28931615
FGFR3
0.732 0.240 4 1804426 missense variant C/A;T snv
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		0.040 1.000 4 1996 2019
dbSNP: rs121913135
rs121913135
INSR
0.882 0.120 19 7125437 missense variant C/A snv
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		0.010 1.000 1 2019 2019
dbSNP: rs1445362103
rs1445362103
ARHGEF7
1.000 0.040 13 111244248 missense variant T/C snv 1.2E-05 7.0E-06
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		0.010 1.000 1 2002 2002
dbSNP: rs2963
rs2963
INSR
0.851 0.240 19 7163143 synonymous variant G/A snv 9.8E-02 0.13
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		0.010 1.000 1 2010 2010
dbSNP: rs587777260
rs587777260
TBC1D4
0.925 0.080 13 75359852 stop gained G/A;T snv 4.0E-06
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		0.010 1.000 1 2009 2009
dbSNP: rs752411521
rs752411521
CBFA2T2
1.000 0.040 20 33624825 missense variant T/C snv 4.0E-06
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		0.010 1.000 1 2002 2002