CDC42, cell division cycle 42, 998

N. diseases: 327; N. variants: 16
Disease: TAKENOUCHI-KOSAKI 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: rs864309721
rs864309721 		1.000 1 22086451 missense variant A/G snv
CUI: C4225222
Disease: TAKENOUCHI-KOSAKI SYNDROME
TAKENOUCHI-KOSAKI SYNDROME 		0.820 1.000 4 2015 2019
dbSNP: rs1064795845
rs1064795845 		1.000 1 22078540 missense variant T/C snv
CUI: C4225222
Disease: TAKENOUCHI-KOSAKI SYNDROME
TAKENOUCHI-KOSAKI SYNDROME 		0.700 0
dbSNP: rs1553196100
rs1553196100 		1.000 1 22086502 missense variant G/T snv
CUI: C4225222
Disease: TAKENOUCHI-KOSAKI SYNDROME
TAKENOUCHI-KOSAKI SYNDROME 		0.700 0
dbSNP: rs1553196101
rs1553196101 		0.925 0.080 1 22086507 missense variant T/C snv
CUI: C4225222
Disease: TAKENOUCHI-KOSAKI SYNDROME
TAKENOUCHI-KOSAKI SYNDROME 		0.700 0
dbSNP: rs1553196539
rs1553196539 		1.000 1 22091452 missense variant G/A snv
CUI: C4225222
Disease: TAKENOUCHI-KOSAKI SYNDROME
TAKENOUCHI-KOSAKI SYNDROME 		0.700 0
dbSNP: rs797044870
rs797044870 		0.925 1 22086456 missense variant A/G snv
CUI: C4225222
Disease: TAKENOUCHI-KOSAKI SYNDROME
TAKENOUCHI-KOSAKI SYNDROME 		0.700 0