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: rs121912734
rs121912734
ATP2A2
0.925 0.120 12 110339638 missense variant T/C snv
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		0.810 1.000 0 1999 2017
dbSNP: rs121912738
rs121912738
ATP2A2
1.000 0.080 12 110296666 missense variant G/A snv
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		0.800 1.000 0 1999 2017
dbSNP: rs28929478
rs28929478
ATP2A2
1.000 0.080 12 110281857 missense variant G/A snv
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		0.800 0
dbSNP: rs121912731
rs121912731
ATP2A2
1.000 0.080 12 110292122 stop gained C/T snv
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		0.700 0
dbSNP: rs1566240208
rs1566240208
ATP2A2
1.000 0.080 12 110342388 inframe deletion ACA/- delins
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		0.700 0
dbSNP: rs751375244
rs751375244
TRAPPC3
0.827 0.280 1 36139776 missense variant G/A snv 1.2E-05 3.5E-05
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		0.700 0
dbSNP: rs764109067
rs764109067
ARL13B
0.851 0.280 3 94036664 missense variant G/A;T snv 4.0E-06
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		0.700 0
dbSNP: rs786205636
rs786205636
BBS5
0.827 0.320 2 169493750 missense variant G/A snv
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		0.700 0
dbSNP: rs886039794
rs886039794
LRRCC1 ; LOC105375933
0.851 0.480 8 85109594 splice acceptor variant G/C snv
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		0.700 0
dbSNP: rs886039797
rs886039797
BBS2
0.807 0.280 16 56502807 missense variant A/C snv 4.0E-06
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		0.700 0
dbSNP: rs886039799
rs886039799
BBS9
0.763 0.320 7 33273896 frameshift variant C/- del
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		0.700 0
dbSNP: rs886039807
rs886039807
TMEM231
0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		0.700 0
dbSNP: rs886039808
rs886039808
CEP290
0.851 0.480 12 88083848 stop gained C/T snv
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		0.700 0
dbSNP: rs886039809
rs886039809
KIAA0586
0.807 0.480 14 58498824 frameshift variant A/- del
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		0.700 0
dbSNP: rs886039810
rs886039810
TMEM67
0.851 0.480 8 93809830 missense variant G/C snv
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		0.700 0
dbSNP: rs886039812
rs886039812
DYNC2H1
0.882 0.160 11 103155395 missense variant T/G snv
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		0.700 0
dbSNP: rs886039814
rs886039814
WDR19
0.807 0.200 4 39218060 missense variant C/G snv
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		0.700 0