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: rs11465384
rs11465384
CD209
1.000 0.080 19 7745120 intron variant G/A snv 6.5E-02 6.3E-02
CUI: C0022283
Disease: Incontinentia Pigmenti Achromians
Incontinentia Pigmenti Achromians 		0.010 1.000 1 2012 2012
dbSNP: rs16949649
rs16949649
NME1 ; NME1-NME2
0.776 0.200 17 51152947 upstream gene variant T/C snv 0.39
CUI: C0022283
Disease: Incontinentia Pigmenti Achromians
Incontinentia Pigmenti Achromians 		0.010 1.000 1 2020 2020
dbSNP: rs1840680
rs1840680
PTX3 ; VEPH1
0.807 0.200 3 157438240 intron variant A/G snv 0.59
CUI: C0022283
Disease: Incontinentia Pigmenti Achromians
Incontinentia Pigmenti Achromians 		0.010 1.000 1 2018 2018
dbSNP: rs2234649
rs2234649
TNFRSF1A
0.925 0.120 12 6342197 upstream gene variant T/G snv 4.8E-02
CUI: C0022283
Disease: Incontinentia Pigmenti Achromians
Incontinentia Pigmenti Achromians 		0.010 1.000 1 2010 2010
dbSNP: rs2302254
rs2302254
NME1 ; NME1-NME2
0.752 0.240 17 51153539 5 prime UTR variant C/T snv 0.22
CUI: C0022283
Disease: Incontinentia Pigmenti Achromians
Incontinentia Pigmenti Achromians 		0.010 1.000 1 2020 2020
dbSNP: rs3901533
rs3901533
CLEC7A ; LOC105369655
0.827 0.280 12 10124484 intron variant A/C snv 0.66
CUI: C0022283
Disease: Incontinentia Pigmenti Achromians
Incontinentia Pigmenti Achromians 		0.010 1.000 1 2012 2012
dbSNP: rs4149570
rs4149570
TNFRSF1A
0.752 0.360 12 6342424 upstream gene variant A/C;G;T snv
CUI: C0022283
Disease: Incontinentia Pigmenti Achromians
Incontinentia Pigmenti Achromians 		0.010 1.000 1 2010 2010
dbSNP: rs4804800
rs4804800
CD209
1.000 0.080 19 7740242 3 prime UTR variant G/A snv 0.81
CUI: C0022283
Disease: Incontinentia Pigmenti Achromians
Incontinentia Pigmenti Achromians 		0.010 1.000 1 2012 2012
dbSNP: rs7309123
rs7309123
CLEC7A ; LOC105369655
0.807 0.280 12 10119994 intron variant G/C snv 0.42
CUI: C0022283
Disease: Incontinentia Pigmenti Achromians
Incontinentia Pigmenti Achromians 		0.010 1.000 1 2012 2012
dbSNP: rs767455
rs767455
TNFRSF1A
0.742 0.400 12 6341779 synonymous variant T/C snv 0.37 0.40
CUI: C0022283
Disease: Incontinentia Pigmenti Achromians
Incontinentia Pigmenti Achromians 		0.010 1.000 1 2010 2010