Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs387906825
rs387906825
HSD17B4
1 1.000 0.280 5 119489219 missense variant A/G;T snv 0.800 1.000 1 2010 2010
dbSNP: rs137853096
rs137853096
HSD17B4
2 1.000 0.280 5 119452621 missense variant G/A;C snv 2.0E-04 0.700 1.000 5 1998 2017
dbSNP: rs137853097
rs137853097
HSD17B4
2 1.000 0.280 5 119509176 missense variant A/G;T snv 4.0E-06; 1.6E-05 0.700 1.000 5 1999 2015
dbSNP: rs1085307072
rs1085307072
HSD17B4
2 1.000 0.280 5 119452578 start lost G/A snv 0.700 1.000 1 2000 2000
dbSNP: rs1057517323
rs1057517323
HSD17B4
2 1.000 0.280 5 119525970 frameshift variant -/GTGT delins 2.1E-05 0.700 0
dbSNP: rs1561485663
rs1561485663
HSD17B4
2 1.000 0.280 5 119525918 frameshift variant T/- delins 0.700 0
dbSNP: rs587777443
rs587777443
HSD17B4
2 1.000 0.280 5 119525259 missense variant T/C snv 7.0E-06 0.700 0
dbSNP: rs751646311
rs751646311
HSD17B4
2 1.000 0.280 5 119536458 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs766199971
rs766199971
HSD17B4
2 1.000 0.280 5 119525228 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs969485098
rs969485098
HSD17B4
2 1.000 0.280 5 119493820 missense variant C/T snv 8.0E-06 0.700 0