Source: ALL

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: rs587776998
rs587776998
KCTD1
1.000 0.200 18 26501147 missense variant G/A;T snv 4.0E-06
CUI: C1867020
Disease: SCALP-EAR-NIPPLE SYNDROME
SCALP-EAR-NIPPLE SYNDROME 		0.800 1.000 1 2013 2013
dbSNP: rs587776999
rs587776999
KCTD1
1.000 0.200 18 26501144 missense variant G/A;C;T snv
CUI: C1867020
Disease: SCALP-EAR-NIPPLE SYNDROME
SCALP-EAR-NIPPLE SYNDROME 		0.800 1.000 1 2013 2013
dbSNP: rs587777000
rs587777000
KCTD1
1.000 0.200 18 26501137 missense variant G/A;T snv 4.0E-06
CUI: C1867020
Disease: SCALP-EAR-NIPPLE SYNDROME
SCALP-EAR-NIPPLE SYNDROME 		0.800 1.000 1 2013 2013
dbSNP: rs587777001
rs587777001
KCTD1
1.000 0.200 18 26501138 missense variant T/G snv
CUI: C1867020
Disease: SCALP-EAR-NIPPLE SYNDROME
SCALP-EAR-NIPPLE SYNDROME 		0.800 1.000 1 2013 2013
dbSNP: rs587777002
rs587777002
KCTD1
1.000 0.200 18 26476603 missense variant T/G snv
CUI: C1867020
Disease: SCALP-EAR-NIPPLE SYNDROME
SCALP-EAR-NIPPLE SYNDROME 		0.800 1.000 1 2013 2013
dbSNP: rs587777003
rs587777003
KCTD1
1.000 0.200 18 26476639 missense variant C/T snv
CUI: C1867020
Disease: SCALP-EAR-NIPPLE SYNDROME
SCALP-EAR-NIPPLE SYNDROME 		0.800 1.000 1 2013 2013
dbSNP: rs16942421
rs16942421
KCTD1
18 26576461 intron variant G/A;T snv
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death 		0.700 1.000 1 2011 2011
dbSNP: rs16942421
rs16942421
KCTD1
18 26576461 intron variant G/A;T snv
CUI: C1720824
Disease: Sudden Cardiac Arrest
Sudden Cardiac Arrest 		0.700 1.000 1 2011 2011
dbSNP: rs7240205
rs7240205
KCTD1
1.000 0.080 18 26576054 intron variant C/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 1.000 1 2017 2017
dbSNP: rs878853124
rs878853124
KCTD1
1.000 0.200 18 26476617 missense variant G/T snv
CUI: C1867020
Disease: SCALP-EAR-NIPPLE SYNDROME
SCALP-EAR-NIPPLE SYNDROME 		0.700 1.000 1 2013 2013
dbSNP: rs878853125
rs878853125
KCTD1
1.000 0.200 18 26501178 missense variant G/A snv
CUI: C1867020
Disease: SCALP-EAR-NIPPLE SYNDROME
SCALP-EAR-NIPPLE SYNDROME 		0.700 1.000 1 2013 2013