PMID: 23754956

Grarup N, Sulem P, Sandholt CH, Thorleifsson G, Ahluwalia TS, Steinthorsdottir V, Bjarnason H, Gudbjartsson DF, Magnusson OT, Sparso T, Albrechtsen A, Kong A, Masson G, Tian G, Cao H, Nie C, Kristiansen K, Husemoen LL, Thuesen B, Li Y, Nielsen R, Linneberg A, Olafsson I, Eyjolfsson GI, Jorgensen T, Wang J, Hansen T, Thorsteinsdottir U, Stefansson K, Pedersen O
Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets.
PLoS Genet. 2013 Jun;9(6):e1003530. doi: 10.1371/journal.pgen.1003530. Epub 2013 Jun 6., [PubMed]
Sentences
No. Mutations Sentence Comment
88 ABCD4 p.Glu368Lys
X
ABCD4 p.Glu368Lys 23754956:88:468
status: NEW
view ABCD4 p.Glu368Lys details
 SNV name Locus Chr. Position (build 36/hg18) Annotation 1 Alleles 2 (effect/other) EAF Icelandic Danish - Inter99 Danish - Health2006 Combined Effect P Effect P Effect P N P I 2 ( P HET ) Novel loci rs2336573 CD320 19 8,273,709 G220R T/C 0.031 0.32 1.1610 251 0.22 0.0057 0.31 1.7610 28 45,575 8.4610 259 41 (0.033) rs1131603 TCN2 22 29,348,975 L376S C/T 0.055 0.19 4.3610 228 0.33 1.8610 29 0.33 5.3610 217 45,575 4.9610 249 62 (0.0050) rs3742801 ABCD4 14 73,828,759 E368K T/C 0.294 0.045 5.3610 28 0.093 7.6610 24 0.083 4.5610 25 45,571 1.7610 213 0 (0.20) rs2270655 MMAA 4 146,795,868 Q363H G/C 0.941 0.066 3.5610 25 0.30 2.8610 27 0.25 5.8610 28 45,576 2.2610 213 79 (7.1610 25 ) rs12272669 MMACHC 1 45,747,242 R206Q A/G 0.0022 0.51 3.0610 29 - - - - - - - Novel SNV associations in reported loci rs34324219 TCN1 11 59,379,954 D301Y C/A 0.881 0.21 8.8610 271 0.40 3.2610 223 0.30 3.5610 224 45,576 1.1610 2111 70 (0.001) rs7788053 3 FUT6 19 5,783,209 P124S A/G 0.254 0.046 2.1610 27 0.050 0.076 0.070 0.00072 45,575 1.7610 210 0 (0.64) Reported associated SNVs rs602662 FUT2 19 53,898,797 G258S A/G 0.596 0.16 4.1610 296 0.19 3.5610 213 0.23 1.9610 234 45,568 2.4610 2139 0 (0.14) rs1801222 CUBN 10 17,196,157 F253S G/A 0.593 0.11 1.1610 252 0.14 7.6610 28 0.17 2.9610 218 45,576 3.3610 275 0 (0.48) rs41281112 CLYBL 13 99,316,635 R259X C/T 0.948 0.17 9.6610 227 0.24 0.0013 0.29 2.5610 27 45,576 8.9610 235 0 (0.90) rs1141321 4 MUT 6 49,520,392 R532H C/T 0.627 0.061 1.4610 216 0.12 3 1.4610 25 0.11 1.4610 27 45,574 3.6610 226 0 (0.24) Association results for serum B 12 in Icelandic and Danish study samples separately and combined. Login to comment