PMID: 29739929

Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure.

Nature communications
A Visconti, DL Duffy, F Liu, G Zhu, W Wu, Y Chen, PG Hysi, C Zeng, M Sanna, MM Iles, PA Kanetsky, F Demenais, MA Hamer, AG Uitterlinden, MA Ikram, T Nijsten, NG Martin, M Kayser, TD Spector, J Han, V Bataille, M Falchi
2018-05-08

117 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-89854977-C-A FANCA c.1359+2834G>T - IntronicSNV - 14/42
16-89854977-C-G FANCA c.1359+2834G>C - IntronicSNV - 14/42
12-52913668-C-T KRT5 c.413G>A p.Gly138Glu Missense 1/9 -
16-89862132-G-A FANCA c.1006+182C>T - IntronicSNV - 11/42
16-89856797-A-G FANCA c.1359+1014T>C - IntronicSNV - 14/42
16-89862132-G-C FANCA c.1006+182C>G - IntronicSNV - 11/42
13-113533653-G-T ATP11A c.*1045G>T - IntronicSNV - 29/29
16-89828669-C-G FANCA c.2779-239G>C - IntronicSNV - 28/42
16-89986546-G-C MC1R c.880G>C p.Asp294His Missense 1/1 -
16-89985918-C-A MC1R c.252C>A p.Asp84Glu Missense 1/1 -
2-202122995-A-G CASP8 c.1-8215A>G - IntronicSNV - 2/9
16-89792856-C-T ZNF276 c.782-831C>T - IntronicSNV - 4/10
11-68817441-T-G TPCN2 c.109+867T>G - IntronicSNV - 1/24
16-89839997-G-T FANCA c.1901-205C>A - IntronicSNV - 21/42
16-89839997-G-C FANCA c.1901-205C>G - IntronicSNV - 21/42
5-33951693-C-G SLC45A2 c.1122G>C p.Leu374Phe Missense 5/7 -
16-89713938-T-C CHMP1A c.253-199A>G - IntronicSNV - 4/6
16-89860183-G-C FANCA c.1007-1228C>G - IntronicSNV - 11/42
16-89860183-G-A FANCA c.1007-1228C>T - IntronicSNV - 11/42
12-88942980-G-A KITLG c.16-3338C>T - IntronicSNV - 1/8
8-116621214-C-T TRPS1 c.967-3985G>A - IntronicSNV - 3/6
16-89826892-T-A FANCA c.2852+1465A>T - IntronicSNV - 29/42
16-89849583-C-T FANCA c.1471-73G>A - IntronicSNV - 15/42
16-89845194-A-C FANCA c.1826+15T>G - IntronicSNV - 20/42
16-90020341-T-C DEF8 c.174-310T>C - IntronicSNV - 2/12
22-45630335-A-G KIAA0930 c.64+6186T>C - IntronicSNV - 1/9
16-89862961-C-G FANCA c.894-535G>C - IntronicSNV - 10/42
16-89985940-G-A MC1R c.274G>A p.Val92Met Missense 1/1 -
16-89815799-T-C FANCA c.3239+339A>G - IntronicSNV - 32/42
16-89857548-A-G FANCA c.1359+263T>C - IntronicSNV - 14/42
8-101062138-G-C RGS22 c.1690-2314C>G - IntronicSNV - 10/27
8-101062138-G-A RGS22 c.1690-2314C>T - IntronicSNV - 10/27
16-89789898-T-C ZNF276 c.562T>C p.Trp188Arg Missense 4/11 -
13-113532990-T-C ATP11A c.*382T>C - IntronicSNV - 29/29
16-89844043-T-C FANCA c.1826+1166A>G - IntronicSNV - 20/42
16-89844043-T-A FANCA c.1826+1166A>T - IntronicSNV - 20/42
15-28365618-A-G HERC2 c.13272+874T>C - IntronicSNV - 86/92
16-89857212-G-T FANCA c.1359+599C>A - IntronicSNV - 14/42
16-89645437-G-A CPNE7 c.497+33G>A - IntronicSNV - 3/16
16-89645437-G-T CPNE7 c.497+33G>T - IntronicSNV - 3/16
16-89857964-T-C FANCA c.1226-20A>G - IntronicSNV - 13/42
16-89815799-T-G FANCA c.3239+339A>C - IntronicSNV - 32/42
16-89826901-G-A FANCA c.2852+1456C>T - IntronicSNV - 29/42
13-113532990-T-A ATP11A c.*382T>A - IntronicSNV - 29/29
16-89806347-A-T FANCA c.3934+55T>A - IntronicSNV - 39/42
16-89818340-G-A FANCA c.3066+206C>T - IntronicSNV - 31/42
16-89818340-G-C FANCA c.3066+206C>G - IntronicSNV - 31/42
16-89818340-G-T FANCA c.3066+206C>A - IntronicSNV - 31/42
13-113539894-C-T ATP11A c.*3714C>T - 3_prime_UTR_variant 30/30 -
16-89839997-G-A FANCA c.1901-205C>T - IntronicSNV - 21/42
16-89845194-A-T FANCA c.1826+15T>A - IntronicSNV - 20/42
5-33951693-C-A SLC45A2 c.1122G>T p.Leu374Phe Missense 5/7 -
3-71503479-T-G FOXP1 c.-168+39098A>C - intron_variant - 3/20
3-71503479-T-A FOXP1 c.-168+39098A>T - intron_variant - 3/20
2-38279469-C-T RMDN2 c.1714-14656C>T - IntronicSNV - 10/10
16-89855192-T-C FANCA c.1359+2619A>G - IntronicSNV - 14/42
2-38279469-C-G RMDN2 c.1714-14656C>G - IntronicSNV - 10/10
1-205205651-G-T TMCC2 c.208-4982G>T - IntronicSNV - 1/4
16-89853117-G-C FANCA c.1360-1745C>G - IntronicSNV - 14/42
16-89858505-T-C FANCA c.1084-29A>G - IntronicSNV - 12/42
16-89853117-G-A FANCA c.1360-1745C>T - IntronicSNV - 14/42
5-1341101-G-C CLPTM1L c.453+685C>G - IntronicSNV - 3/16
16-89986154-G-A MC1R c.488G>A p.Arg163Gln Missense 1/1 -
16-89805977-G-A FANCA c.3935-16C>T - IntronicSNV - 39/42
5-1341101-G-A CLPTM1L c.453+685C>T - IntronicSNV - 3/16
16-90037828-G-A CENPBD1 c.503C>T p.Thr168Ile Missense 1/1 -
16-90037828-G-C CENPBD1 c.503C>G p.Thr168Arg Missense 1/1 -
16-89986144-C-T MC1R c.478C>T p.Arg160Trp Missense 1/1 -
16-89838834-T-C FANCA c.2015-612A>G - IntronicSNV - 22/42
6-392364-A-G IRF4 c.-56+555A>G - intron_variant - 1/8
16-89986117-C-T MC1R c.451C>T p.Arg151Cys Missense 1/1 -
6-392364-A-T IRF4 c.-56+555A>T - intron_variant - 1/8
1-205163798-G-A DSTYK c.266-6864C>T - IntronicSNV - 1/12
16-89863110-A-G FANCA c.894-684T>C - IntronicSNV - 10/42
16-89863110-A-T FANCA c.894-684T>A - IntronicSNV - 10/42
11-68831364-G-A TPCN2 c.655G>A p.Val219Ile Missense 7/25 -
1-205163798-G-C DSTYK c.266-6864C>G - IntronicSNV - 1/12
11-89021065-T-C TYR c.1366+2943T>C - IntronicSNV - 4/4
16-89860182-T-G FANCA c.1007-1227A>C - IntronicSNV - 11/42
16-89860182-T-A FANCA c.1007-1227A>T - IntronicSNV - 11/42
5-59023325-A-T PDE4D c.455+165670T>A - IntronicSNV - 1/14
13-113536132-T-C ATP11A c.*10-58T>C - intron_variant - 29/29
16-89817777-G-T FANCA c.3066+769C>A - IntronicSNV - 31/42
16-89791020-A-G ZNF276 c.781+903A>G - IntronicSNV - 4/10
16-90020346-A-C DEF8 c.174-305A>C - IntronicSNV - 2/12
11-89017961-G-A TYR c.1205G>A p.Arg402Gln Missense 4/5 -
16-89862982-G-A FANCA c.894-556C>T - IntronicSNV - 10/42
16-89986130-T-C MC1R c.464T>C p.Ile155Thr Missense 1/1 -
16-89857212-G-A FANCA c.1359+599C>T - IntronicSNV - 14/42
16-89854829-C-G FANCA c.1359+2982G>C - IntronicSNV - 14/42
5-149196234-G-C PPARGC1B c.79-3762G>C - IntronicSNV - 1/11
13-113533651-C-A ATP11A c.*1043C>A - IntronicSNV - 29/29
16-89857700-A-G FANCA c.1359+111T>C - IntronicSNV - 14/42
1-205130413-A-G DSTYK c.1921T>C p.Cys641Arg Missense 7/13 -
1-205130413-A-T DSTYK c.1921T>A p.Cys641Ser Missense 7/13 -
16-89857548-A-T FANCA c.1359+263T>A - IntronicSNV - 14/42
16-89985918-C-G MC1R c.252C>G p.Asp84Glu Missense 1/1 -
16-89838834-T-G FANCA c.2015-612A>C - IntronicSNV - 22/42
16-89828669-C-T FANCA c.2779-239G>A - IntronicSNV - 28/42
16-89786761-C-T VPS9D1 c.99+410G>A - IntronicSNV - 1/14
6-396321-C-T IRF4 c.492+386C>T - IntronicSNV - 4/8
16-89854829-C-T FANCA c.1359+2982G>A - IntronicSNV - 14/42
16-89916391-G-A SPIRE2 c.289-321G>A - IntronicSNV - 2/14
16-89986091-G-A MC1R c.425G>A p.Arg142His Missense 1/1 -
15-28230318-C-T OCA2 c.1256G>A p.Arg419Gln Missense 13/24 -
16-89786761-C-G VPS9D1 c.99+410G>C - IntronicSNV - 1/14
16-89845194-A-G FANCA c.1826+15T>C - IntronicSNV - 20/42
7-29132279-A-G CPVL c.502T>C p.Tyr168His Missense 6/13 -
1-17746273-C-T RCC2 c.859+937G>A - IntronicSNV - 7/12
16-89985844-G-T MC1R c.178G>T p.Val60Leu Missense 1/1 -
16-89850677-C-G FANCA c.1470+585G>C - IntronicSNV - 15/42
13-113535949-G-C ATP11A c.*10-241G>C - intron_variant - 29/29
16-89850677-C-T FANCA c.1470+585G>A - IntronicSNV - 15/42
13-113533594-G-C ATP11A c.*986G>C - IntronicSNV - 29/29
13-113533594-G-T ATP11A c.*986G>T - IntronicSNV - 29/29
13-113537311-C-T ATP11A c.*1131C>T - 3_prime_UTR_variant 30/30 -
20-32665748-A-G RALY c.829-563A>G - IntronicSNV - 7/8