Disease: WITTEVEEN-KOLK SYNDROME ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1567368243
rs1567368243 		0.882 0.040 15 75411651 frameshift variant -/T delins
CUI: C4310804
Disease: WITTEVEEN-KOLK SYNDROME
WITTEVEEN-KOLK SYNDROME 		0.700 1.000 1 2019 2019
dbSNP: rs1135401768
rs1135401768 		1.000 15 75384340 frameshift variant GT/- delins
CUI: C4310804
Disease: WITTEVEEN-KOLK SYNDROME
WITTEVEEN-KOLK SYNDROME 		0.700 0
dbSNP: rs879255618
rs879255618 		1.000 15 75411696 frameshift variant -/G delins
CUI: C4310804
Disease: WITTEVEEN-KOLK SYNDROME
WITTEVEEN-KOLK SYNDROME 		0.700 0
dbSNP: rs879255619
rs879255619 		1.000 15 75410282 splice acceptor variant TTCT/- delins
CUI: C4310804
Disease: WITTEVEEN-KOLK SYNDROME
WITTEVEEN-KOLK SYNDROME 		0.700 0
dbSNP: rs879255620
rs879255620 		1.000 15 75400135 frameshift variant A/- delins
CUI: C4310804
Disease: WITTEVEEN-KOLK SYNDROME
WITTEVEEN-KOLK SYNDROME 		0.700 0
dbSNP: rs879255621
rs879255621 		1.000 15 75380702 stop gained G/A snv
CUI: C4310804
Disease: WITTEVEEN-KOLK SYNDROME
WITTEVEEN-KOLK SYNDROME 		0.700 0
dbSNP: rs886037847
rs886037847 		1.000 15 75389717 frameshift variant TC/- delins
CUI: C4310804
Disease: WITTEVEEN-KOLK SYNDROME
WITTEVEEN-KOLK SYNDROME 		0.700 0