Source: GWASCAT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs10005540
rs10005540 		4 173660916 downstream gene variant C/G;T snv
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs1000972
rs1000972 		20 6641070 regulatory region variant T/A;G snv
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs10041818
rs10041818 		5 148691691 intergenic variant C/T snv 0.35
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs10067798
rs10067798
TENM2
5 167413686 intron variant T/A snv 0.44
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs10088136
rs10088136 		8 85482363 downstream gene variant T/A snv 0.64
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs1008833
rs1008833
PIK3C2B
1 204457167 intron variant A/G snv 0.12
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs10089933
rs10089933 		8 48478923 intergenic variant T/C snv 0.32
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs10128597
rs10128597
TRIM66
11 8673283 intron variant G/A snv 0.27
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs1013105
rs1013105
SHROOM3
4 76687512 intron variant G/A;T snv
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs10136987
rs10136987 		14 93842954 intergenic variant G/A snv 0.89
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs10141786
rs10141786
VRTN
14 74350715 intron variant A/G snv 0.67
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 2 2019 2019
dbSNP: rs10151945
rs10151945
ATXN3
14 92059269 3 prime UTR variant C/T snv 0.45
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs10157038
rs10157038
CASZ1
1 10652408 non coding transcript exon variant C/A;T snv
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs10168801
rs10168801
DIRC3
2 217715827 intron variant G/A snv 0.66
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs10172309
rs10172309
CCNYL1
2 207743915 intron variant G/C snv 2.7E-02
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs10184849
rs10184849
PCBP1-AS1
2 70034525 intron variant T/A;C snv
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs10201883
rs10201883 		2 177606679 intron variant T/C snv 0.82
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs10209172
rs10209172
MFSD6 ; NEMP2
2 190504195 intron variant G/A;C snv
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs10214145
rs10214145 		5 27636685 intergenic variant T/A;G snv
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs10283100
rs10283100
ENPP2
8 119583783 missense variant A/G;T snv 0.96
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs1035101
rs1035101 		2 59563217 intron variant C/T snv 0.60
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs10410606
rs10410606
LTBP4
19 40603069 intron variant A/C snv 0.52
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs1041733
rs1041733 		21 34311960 intron variant T/A snv 0.49
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs10438355
rs10438355
SMAD3
15 67195211 downstream gene variant C/G snv 0.20
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs1046874
rs1046874
MDM4 ; LOC105371692
1 204557932 3 prime UTR variant C/T snv
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019