HMCN1, hemicentin 1, 83872

N. diseases: 28; N. variants: 6
Disease: Vital capacity ×
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: rs2057388
rs2057388 		1 186122944 splice region variant A/C;T snv 0.47; 4.0E-06
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs2146098
rs2146098 		1 186121238 intron variant A/G snv 0.49
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019