Table 2 Functional data and family co-segregation for genes and variants in the ESP population
Gene | Variant | dbSNP | All genotypes (EA + AA) | SIFT | PolyPhen-2 | Grantham score | Conservation | Agreement | HGMD | Family | Functional data |
|---|---|---|---|---|---|---|---|---|---|---|---|
|  |  |  |  |  |  |  | YES/NO | ≥3 | Variant class | Co-segregation |  |
|  | c.59A > G | rs201309310 | CC = 0/CT = 3/TT = 6490 | Tolerant | Benign | D (194) | YES | B | DM | YES | NO |
|  | c.1027G > A | rs146726731 | TT = 0/TC = 2/CC = 6491 | Tolerant | Possibly damaging | D (125) | YES | D | DM | NO | NO |
|  | c.1345G > A | rs139058991 | TT = 0/TC = 2/CC = 6491 | Tolerant | Benign | B (29) | YES | B | DM | NO | NO |
|  | c.2056G > A | rs377621293 | TT = 0/TC = 1/CC = 6492 | Tolerant | Benign | B (58) | YES | B | DM | NO | NO |
|  | c.2927G > A | rs140954477 | TT = 0/TC = 2/CC = 6492 | Tolerant | Probably damaging | B (29) | YES | B | DM | NO | NO |
|  | c.3058A > G | rs111801777 | CC = 0/CT = 3/TT = 6491 | Tolerant | Benign | B (58) | NO | B | DM | NO | NO |
|  | c.3422C > T | rs2228241 | AA = 0/AG = 14/GG = 6480 | Damaging | Probably damaging | B (98) | NO | B | DM? | NO | NO |
|  | c.3509G > A | rs137854475 | TT = 0/TC = 25/CC = 6469 | Tolerant | Benign | B (29) | YES | B | DM | YES | NO |
|  | c.3797A > T | rs200283837 | AA = 0/AT = 4/TT = 6490 | Tolerant | Benign | B (22) | NO | B | DM | NO | NO |
|  | c.3845A > G | rs140647 | CC = 0/CT = 3/TT = 6491 | Damaging | Benign | B (46) | YES | B | DM? | NO | NO |
|  | c.4270C > G | rs201273753 | CC = 0/CG = 4/GG = 6490 | Damaging | Probably damaging | B (27) | NO | B | DM | NO | NO |
FBN1 | c.6055G > A | rs377149130 | TT = 0/TC = 1/CC = 6493 | Tolerant | Possibly damaging | B (56) | NO | B | DM? | YES | NO |
|  | c.6700G > A | rs112084407 | TT = 0/TC = 8/CC = 6486 | Tolerant | Benign | B (21) | NO | B | DM | NO | NO |
|  | c.7241G > A | rs143863014 | TT = 0/TC = 1/CC = 6493 | Tolerant | Benign | B (43) | NO | B | DM | YES | NO |
|  | c.7379A > G | rs144189837 | CC = 0/CT = 2/TT = 6492 | Tolerant | Possibly damaging | B (26) | YES | B | DM | NO | NO |
|  | c.7660C > T | rs369294972 | AA = 0/AG = 1/GG = 6493 | Damaging | Probably damaging | D (101) | YES | D | DM | YES | NO |
|  | c.7661G > A | rs199522781 | TT = 0/TC = 1/CC = 6493 | Tolerant | Probably damaging | B (43) | YES | B | DM? | NO | NO |
|  | c.7702G > A | rs138558987 | TT = 0/TC = 1/CC = 6493 | Damaging | Benign | B (21) | YES | B | DM | NO | NO |
|  | c.7846A > G | rs143677764 | CC = 0/CT = 4/TT = 6490 | Tolerant | Benign | B (29) | NO | B | DM | YES | NO |
|  | c.7852G > A | rs141133182 | TT = 0/TC = 2/CC = 6492 | Tolerant | Probably damaging | D (125) | YES | D | DM | NO | NO |
|  | c.8081G > A | rs371375126 | TT = 0/TC = 1/CC = 6493 | Tolerant | Benign | B (43) | YES | B | DM | NO | NO |
|  | c.8176C > T | rs61746008 | AA = 0/AG = 14/GG = 6480 | Damaging | Benign | D (101) | NO | B | DM | YES | NO |
|  | c.8494A > G | rs376933421 | CC = 0/CT = 1/TT = 6493 | Tolerant | Benign | B (56) | YES | B | DM | NO | NO |