NIPBL NIPBL, cohesin loading factor

Ensembl gene ID: ENSG00000164190

UCSC Browser: chr5:36876860-37065921

GeneCards: NIPBL

gnomAD: NIPBL

PharmGKB ID: PA134962343


ARCHS4: NIPBL

GTEx : NIPBL

Number of variants: 53

Browse the gene in INDEX-db genome browser

Variants

Variant ID Region Annotation Consequence dbSNP AC in INDEX_ALL AF in INDEX_ALL No. of Homozygotes AF in INDEX_Controls
chr5-36877117-A-C UTR5 None None rs544681871 1 0.00286 0 0.00286
chr5-36955533-T-C intronic None None rs558196170 3 0.00857 0 0.00857
chr5-36955585-C-T exonic synonymous_SNV ['c.C76T', 'p.L26L'] . 1 0.00286 0 0.00286
chr5-36962478-A-G intronic None None rs116399820 1 0.00286 0 0.00286
chr5-36985268-A-C exonic nonsynonymous_SNV ['c.A1986C', 'p.K662N'] rs781213650 1 0.00286 0 0.00286
chr5-36985303-A-G exonic nonsynonymous_SNV ['c.A2021G', 'p.N674S'] rs3822471 20 0.05714 0 0.05714
chr5-37001010-A-C intronic None None rs530238141 1 0.00286 0 0.00286
chr5-37001074-A-G intronic None None rs78827246 22 0.06286 0 0.06286
chr5-37003313-A-C intronic None None rs374455223 2 0.00571 0 0.00571
chr5-37003501-A-G intronic None None rs62654860 38 0.10857 6 0.10857
chr5-37007629-T-C intronic None None rs159753 81 0.23143 26 0.23143
chr5-37008690-T-C intronic None None rs147490589 1 0.00286 0 0.00286
chr5-37008922-A-G intronic None None . 1 0.00286 0 0.00286
chr5-37010404-A-G intronic None None rs35011787 26 0.07429 4 0.07429
chr5-37019354-G-A intronic None None rs300060 75 0.21429 11 0.21429
chr5-37019365-A-C intronic None None . 2 0.00571 1 0.00571
chr5-37020942-G-A exonic nonsynonymous_SNV ['c.G5291A', 'p.R1764K'] . 1 0.00286 0 0.00286
chr5-37021013-T-C intronic None None rs181417130 1 0.00286 0 0.00286
chr5-37024519-A-T intronic None None rs3100685 36 0.10286 18 0.10286
chr5-37024595-G-C intronic None None rs116198732 1 0.00286 0 0.00286
chr5-37026253-G-A intronic None None rs72736713 2 0.00571 0 0.00571
chr5-37036492-C-T exonic synonymous_SNV ['c.C5874T', 'p.S1958S'] rs61748200 36 0.10286 1 0.10286
chr5-37045841-A-G intronic None None rs301859 56 0.16000 24 0.16000
chr5-37046310-A-T intronic None None rs370709104 3 0.00857 1 0.00857
chr5-37048797-T-C intronic None None rs538756143 1 0.00286 0 0.00286
chr5-37049178-C-G intronic None None rs144405762 1 0.00286 0 0.00286
chr5-37059344-C-T intronic None None rs376878839 1 0.00286 0 0.00286
chr5-37061261-A-G intronic None None rs188541 8 0.02286 4 0.02286
chr5-37065472-C-A UTR3 None None . 1 0.00286 0 0.00286
chr5-36885771-A-G intronic None None rs550723931 1 0.00286 0 0.00286
chr5-36962176-G-T intronic None None rs377385598 2 0.00571 0 0.00571
chr5-36984706-C-T intronic None None rs80358377 1 0.00286 0 0.00286
chr5-37019401-T-C intronic None None rs540078271 3 0.00857 0 0.00857
chr5-37021933-T-C intronic None None rs35701604 2 0.00571 1 0.00571
chr5-37026318-C-T intronic None None rs562131143 1 0.00286 0 0.00286
chr5-37044446-T-C intronic None None rs145778995 1 0.00286 0 0.00286
chr5-37044451-G-A exonic synonymous_SNV ['c.G6111A', 'p.T2037T'] rs755732764 1 0.00286 0 0.00286
chr5-36877053-C-T UTR5 None None rs377354585 1 0.00286 0 0.00286
chr5-36885682-G-A intronic None None . 1 0.00286 0 0.00286
chr5-36962249-C-T exonic synonymous_SNV ['c.C483T', 'p.S161S'] rs536895037 2 0.00571 0 0.00571
chr5-36972137-C-A exonic nonsynonymous_SNV ['c.C862A', 'p.P288T'] rs546188623 1 0.00286 0 0.00286
chr5-37010448-C-T intronic None None rs62654863 2 0.00571 0 0.00571
chr5-37024494-T-C intronic None None rs13181330 1 0.00286 0 0.00286
chr5-37027258-C-A intronic None None rs12187383 2 0.00571 1 0.00571
chr5-37045790-A-G intronic None None rs115262535 1 0.00286 0 0.00286
chr5-37059093-G-A exonic nonsynonymous_SNV ['c.G7511A', 'p.R2504Q'] rs578001374 1 0.00286 0 0.00286
chr5-37063812-C-T intronic None None rs535184189 1 0.00286 0 0.00286
chr5-37085629-A-G intergenic None None rs562637987 1 0.00286 0 0.00286
chr5-37085790-A-G intergenic None None . 1 0.00286 0 0.00286
chr5-37085800-T-C intergenic None None . 1 0.00286 0 0.00286
chr5-37085819-T-C intergenic None None . 1 0.00286 0 0.00286
chr5-37085823-C-T intergenic None None rs552817718 1 0.00286 0 0.00286
chr5-37085892-A-G intergenic None None . 1 0.00286 0 0.00286
chr5-36958085-CAA-C intronic None None rs141750225 12 0.03429 3 0.03429
chr5-36976508-AAAT-A intronic None None rs398124464 1 0.00286 0 0.00286
chr5-37027576-GT-GTT intronic None None rs747283808 2 0.00787 0 0.00787
chr5-37036449-GTA-G intronic None None rs10554564 31 0.08857 4 0.08857
chr5-37051861-AT-A intronic None None rs749860922 7 0.02000 0 0.02000
chr5-36971143-G-GT intronic None None . 1 0.00286 0 0.00286
chr5-37049048-G-GAC intronic None None rs397953042 1 0.00286 0 0.00286
chr5-36877282-TA-T intronic None None rs532015680 1 0.00286 0 0.00286
chr5-37027576-GT-G intronic None None rs747283808 6 0.01714 0 0.01714
chr5-37052373-CAATG-C intronic None None rs200564731 1 0.00286 0 0.00286
chr5-37085270-TGA-T intergenic None None rs780019441 1 0.00286 0 0.00286
Export variants to CSV

AC-Allele Count; AF-Allele Frequency