HMCN1, hemicentin 1, 83872

N. diseases: 28; N. variants: 6
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: rs121434382
rs121434382 		0.925 0.040 1 186178506 missense variant A/G snv 7.3E-04 6.8E-04
CUI: C1864205
Disease: Macular Degeneration, Age-Related, 1
Macular Degeneration, Age-Related, 1 		Eye Diseases 0.700 1.000 1 2003 2003
dbSNP: rs16824658
rs16824658 		0.925 0.040 1 185895380 intron variant A/G snv 7.6E-02
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		Digestive System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs16824658
rs16824658 		0.925 0.040 1 185895380 intron variant A/G snv 7.6E-02
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis 		Digestive System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs17531405
rs17531405 		1 186144720 intron variant G/C snv 0.14 0.13
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
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
dbSNP: rs121434382
rs121434382 		0.925 0.040 1 186178506 missense variant A/G snv 7.3E-04 6.8E-04
CUI: C4017162
Disease: MACULAR DEGENERATION, AGE-RELATED, 1, SUSCEPTIBILITY TO
MACULAR DEGENERATION, AGE-RELATED, 1, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs879255520
rs879255520 		1.000 0.040 1 186001390 frameshift variant C/- delins
CUI: C1864205
Disease: Macular Degeneration, Age-Related, 1
Macular Degeneration, Age-Related, 1 		Eye Diseases 0.700 0
dbSNP: rs121434382
rs121434382 		0.925 0.040 1 186178506 missense variant A/G snv 7.3E-04 6.8E-04
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.050 1.000 5 2004 2007