Links from Nucleotide
Items: 1 to 20 of 291
1.
rs1483791202 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 2:233755291
(GRCh38)
2:234663937
(GRCh37)
- Canonical SPDI:
- NC_000002.12:233755290:C:A,NC_000002.12:233755290:C:G,NC_000002.12:233755290:C:T
- Gene:
- UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview), LOC100286922 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000002.12:g.233755291C>A, NC_000002.12:g.233755291C>G, NC_000002.12:g.233755291C>T, NC_000002.11:g.234663937C>A, NC_000002.11:g.234663937C>G, NC_000002.11:g.234663937C>T, NG_002601.2:g.170548C>A, NG_002601.2:g.170548C>G, NG_002601.2:g.170548C>T, NG_033238.1:g.19C>A, NG_033238.1:g.19C>G, NG_033238.1:g.19C>T, NR_037694.1:n.55G>T, NR_037694.1:n.55G>C, NR_037694.1:n.55G>A, NR_037695.1:n.55G>T, NR_037695.1:n.55G>C, NR_037695.1:n.55G>A, NR_037696.1:n.55G>T, NR_037696.1:n.55G>C, NR_037696.1:n.55G>A
2.
rs1479189467 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:233754367
(GRCh38)
2:234663013
(GRCh37)
- Canonical SPDI:
- NC_000002.12:233754366:T:C
- Gene:
- UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview), LOC100286922 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00086/14
(
ALFA)
C=0.00016/1
(1000Genomes)
- HGVS:
3.
rs1478561208 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:233755206
(GRCh38)
2:234663852
(GRCh37)
- Canonical SPDI:
- NC_000002.12:233755205:C:T
- Gene:
- UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview), LOC100286922 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
4.
rs1476325648 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:233754395
(GRCh38)
2:234663041
(GRCh37)
- Canonical SPDI:
- NC_000002.12:233754394:C:T
- Gene:
- UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview), LOC100286922 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
5.
rs1475271740 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 2:233755024
(GRCh38)
2:234663670
(GRCh37)
- Canonical SPDI:
- NC_000002.12:233755023:GGG:GG
- Gene:
- UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview), LOC100286922 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
7.
rs1468695441 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G,T
[Show Flanks]
- Chromosome:
- 2:233755285
(GRCh38)
2:234663931
(GRCh37)
- Canonical SPDI:
- NC_000002.12:233755284:A:C,NC_000002.12:233755284:A:G,NC_000002.12:233755284:A:T
- Gene:
- UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview), LOC100286922 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000002.12:g.233755285A>C, NC_000002.12:g.233755285A>G, NC_000002.12:g.233755285A>T, NC_000002.11:g.234663931A>C, NC_000002.11:g.234663931A>G, NC_000002.11:g.234663931A>T, NG_002601.2:g.170542A>C, NG_002601.2:g.170542A>G, NG_002601.2:g.170542A>T, NG_033238.1:g.13A>C, NG_033238.1:g.13A>G, NG_033238.1:g.13A>T, NR_037694.1:n.61T>G, NR_037694.1:n.61T>C, NR_037694.1:n.61T>A, NR_037695.1:n.61T>G, NR_037695.1:n.61T>C, NR_037695.1:n.61T>A, NR_037696.1:n.61T>G, NR_037696.1:n.61T>C, NR_037696.1:n.61T>A
8.
rs1463963826 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:233754596
(GRCh38)
2:234663242
(GRCh37)
- Canonical SPDI:
- NC_000002.12:233754595:T:C
- Gene:
- UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview), LOC100286922 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
9.
rs1457699650 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 2:233755317
(GRCh38)
2:234663963
(GRCh37)
- Canonical SPDI:
- NC_000002.12:233755316:G:C
- Gene:
- UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview), LOC100286922 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
11.
rs1455316487 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 2:233755015
(GRCh38)
2:234663661
(GRCh37)
- Canonical SPDI:
- NC_000002.12:233755014:G:C
- Gene:
- UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview), LOC100286922 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
12.
rs1453743616 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 2:233754530
(GRCh38)
2:234663176
(GRCh37)
- Canonical SPDI:
- NC_000002.12:233754529:T:A
- Gene:
- UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview), LOC100286922 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
13.
rs1452134349 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:233755198
(GRCh38)
2:234663844
(GRCh37)
- Canonical SPDI:
- NC_000002.12:233755197:G:A
- Gene:
- UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview), LOC100286922 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1448845057 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 2:233755199
(GRCh38)
2:234663845
(GRCh37)
- Canonical SPDI:
- NC_000002.12:233755198:C:A,NC_000002.12:233755198:C:T
- Gene:
- UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview), LOC100286922 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000002.12:g.233755199C>A, NC_000002.12:g.233755199C>T, NC_000002.11:g.234663845C>A, NC_000002.11:g.234663845C>T, NG_002601.2:g.170456C>A, NG_002601.2:g.170456C>T, NR_037694.1:n.147G>T, NR_037694.1:n.147G>A, NR_037695.1:n.147G>T, NR_037695.1:n.147G>A, NR_037696.1:n.147G>T, NR_037696.1:n.147G>A
15.
rs1448703507 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:233754560
(GRCh38)
2:234663206
(GRCh37)
- Canonical SPDI:
- NC_000002.12:233754559:G:A
- Gene:
- UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview), LOC100286922 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
16.
rs1446965337 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 2:233754712
(GRCh38)
2:234663358
(GRCh37)
- Canonical SPDI:
- NC_000002.12:233754711:G:A,NC_000002.12:233754711:G:C,NC_000002.12:233754711:G:T
- Gene:
- UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview), LOC100286922 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.000014/2
(GnomAD_exomes)
C=0.002729/5
(Korea1K)
- HGVS:
NC_000002.12:g.233754712G>A, NC_000002.12:g.233754712G>C, NC_000002.12:g.233754712G>T, NC_000002.11:g.234663358G>A, NC_000002.11:g.234663358G>C, NC_000002.11:g.234663358G>T, NG_002601.2:g.169969G>A, NG_002601.2:g.169969G>C, NG_002601.2:g.169969G>T, NR_037694.1:n.634C>T, NR_037694.1:n.634C>G, NR_037694.1:n.634C>A, NR_037695.1:n.419C>T, NR_037695.1:n.419C>G, NR_037695.1:n.419C>A, NR_037696.1:n.282C>T, NR_037696.1:n.282C>G, NR_037696.1:n.282C>A
17.
rs1444535739 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:233754719
(GRCh38)
2:234663365
(GRCh37)
- Canonical SPDI:
- NC_000002.12:233754718:G:A
- Gene:
- UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview), LOC100286922 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
18.
rs1444380130 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:233754789
(GRCh38)
2:234663435
(GRCh37)
- Canonical SPDI:
- NC_000002.12:233754788:A:G
- Gene:
- UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview), LOC100286922 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000006/1
(GnomAD_exomes)
- HGVS:
19.
rs1442150755 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 2:233755261
(GRCh38)
2:234663907
(GRCh37)
- Canonical SPDI:
- NC_000002.12:233755260:G:C
- Gene:
- UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview), LOC100286922 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
20.
rs1442095371 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 2:233754743
(GRCh38)
2:234663389
(GRCh37)
- Canonical SPDI:
- NC_000002.12:233754742:C:A
- Gene:
- UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview), LOC100286922 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS: