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: rs145303331
rs145303331
PIGL
1.000 0.360 17 16316686 missense variant T/C snv 4.1E-04 6.1E-04
CUI: C1848392
Disease: Zunich neuroectodermal syndrome
Zunich neuroectodermal syndrome 		0.810 1.000 1 2012 2019
dbSNP: rs139004722
rs139004722
PIGL
1.000 0.360 17 16317900 stop gained C/A;G;T snv 4.0E-06; 8.0E-06
CUI: C1848392
Disease: Zunich neuroectodermal syndrome
Zunich neuroectodermal syndrome 		0.700 0
dbSNP: rs758633805
rs758633805
PIGL
1.000 0.360 17 16234009 frameshift variant C/- del 4.0E-06
CUI: C1848392
Disease: Zunich neuroectodermal syndrome
Zunich neuroectodermal syndrome 		0.700 0
dbSNP: rs770084126
rs770084126
PIGL
1.000 0.360 17 16313546 splice acceptor variant G/A snv 8.0E-06 3.5E-05
CUI: C1848392
Disease: Zunich neuroectodermal syndrome
Zunich neuroectodermal syndrome 		0.700 0
dbSNP: rs104894281
rs104894281
NECTIN1
0.882 0.320 11 119677734 stop gained C/T snv
CUI: C2931488
Disease: Zlotogora-Ogur syndrome
Zlotogora-Ogur syndrome 		0.710 1.000 0 2006 2006
dbSNP: rs876657374
rs876657374
NECTIN1
1.000 0.320 11 119677732 frameshift variant C/- delins
CUI: C2931488
Disease: Zlotogora-Ogur syndrome
Zlotogora-Ogur syndrome 		0.700 0
dbSNP: rs878853255
rs878853255
NECTIN1
1.000 0.320 11 119675192 frameshift variant -/A delins
CUI: C2931488
Disease: Zlotogora-Ogur syndrome
Zlotogora-Ogur syndrome 		0.700 0
dbSNP: rs587776926
rs587776926
SLC30A2
1.000 0.040 1 26045107 missense variant T/C snv
CUI: C1842486
Disease: Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc
Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc 		0.820 1.000 0 2006 2013
dbSNP: rs1135401772
rs1135401772
ATP6V1B2
1.000 8 20216454 missense variant G/C snv
CUI: C4225321
Disease: ZIMMERMANN-LABAND SYNDROME 2
ZIMMERMANN-LABAND SYNDROME 2 		0.700 0
dbSNP: rs730882177
rs730882177
ATP6V1B2
0.925 0.120 8 20220320 missense variant G/C snv
CUI: C4225321
Disease: ZIMMERMANN-LABAND SYNDROME 2
ZIMMERMANN-LABAND SYNDROME 2 		0.800 0
dbSNP: rs727502819
rs727502819
KCNH1
0.925 0.280 1 210804149 missense variant T/C snv
CUI: C4551773
Disease: ZIMMERMANN-LABAND SYNDROME 1
ZIMMERMANN-LABAND SYNDROME 1 		0.800 0
dbSNP: rs730882172
rs730882172
KCNH1
1.000 0.120 1 210920047 missense variant G/T snv
CUI: C4551773
Disease: ZIMMERMANN-LABAND SYNDROME 1
ZIMMERMANN-LABAND SYNDROME 1 		0.800 0
dbSNP: rs730882173
rs730882173
KCNH1
1.000 0.120 1 210919955 missense variant C/G snv
CUI: C4551773
Disease: ZIMMERMANN-LABAND SYNDROME 1
ZIMMERMANN-LABAND SYNDROME 1 		0.800 0
dbSNP: rs730882174
rs730882174
KCNH1
1.000 0.120 1 210919979 missense variant C/T snv
CUI: C4551773
Disease: ZIMMERMANN-LABAND SYNDROME 1
ZIMMERMANN-LABAND SYNDROME 1 		0.800 0
dbSNP: rs730882175
rs730882175
KCNH1
1.000 0.120 1 210804143 missense variant C/T snv
CUI: C4551773
Disease: ZIMMERMANN-LABAND SYNDROME 1
ZIMMERMANN-LABAND SYNDROME 1 		0.800 0
dbSNP: rs730882176
rs730882176
KCNH1
1.000 0.120 1 210919967 missense variant G/C snv
CUI: C4551773
Disease: ZIMMERMANN-LABAND SYNDROME 1
ZIMMERMANN-LABAND SYNDROME 1 		0.800 0
dbSNP: rs730882177
rs730882177
ATP6V1B2
0.925 0.120 8 20220320 missense variant G/C snv
CUI: C4551773
Disease: ZIMMERMANN-LABAND SYNDROME 1
ZIMMERMANN-LABAND SYNDROME 1 		0.700 0
dbSNP: rs1064796472
rs1064796472
SON
21 33552565 stop gained C/T snv
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		0.700 0
dbSNP: rs1114167303
rs1114167303
SON
0.925 0.120 21 33553079 frameshift variant GGTAT/- delins
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		0.700 0
dbSNP: rs1275312464
rs1275312464
SON
21 33552787 stop gained C/G;T snv 7.0E-06
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		0.700 0
dbSNP: rs1555898531
rs1555898531
SON
21 33551596 frameshift variant A/- del
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		0.700 0
dbSNP: rs1569050345
rs1569050345
SON ; MIR6501
21 33549495 frameshift variant A/- delins
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		0.700 0
dbSNP: rs1569053308
rs1569053308
SON ; MIR6501
21 33551112 frameshift variant AG/- del
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		0.700 0
dbSNP: rs1569055781
rs1569055781
SON
21 33552827 frameshift variant -/GC delins
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		0.700 0
dbSNP: rs1569056484
rs1569056484
SON
21 33553283 frameshift variant C/- delins
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		0.700 0