MEGF8, multiple EGF like domains 8, 1954

N. diseases: 89; N. variants: 5
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: rs397515427
rs397515427 		1.000 19 42356848 missense variant G/A;C snv 5.3E-06
CUI: C3554247
Disease: CARPENTER SYNDROME 2
CARPENTER SYNDROME 2 		0.800 1.000 1 2012 2012
dbSNP: rs397515428
rs397515428 		1.000 19 42375537 missense variant A/G snv
CUI: C3554247
Disease: CARPENTER SYNDROME 2
CARPENTER SYNDROME 2 		0.800 1.000 1 2012 2012
dbSNP: rs76757277
rs76757277 		19 42353245 intron variant C/T snv 5.0E-02
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs1206116606
rs1206116606 		1.000 19 42344074 splice donor variant G/C snv 4.0E-06 7.0E-06
CUI: C3554247
Disease: CARPENTER SYNDROME 2
CARPENTER SYNDROME 2 		0.700 0
dbSNP: rs397514621
rs397514621 		1.000 19 42336904 stop gained C/T snv 4.0E-06 7.0E-06
CUI: C3554247
Disease: CARPENTER SYNDROME 2
CARPENTER SYNDROME 2 		0.700 0