Links from Nucleotide
Items: 1 to 20 of 223
1.
rs1490189727 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 21:32393770
(GRCh38)
21:33766079
(GRCh37)
- Canonical SPDI:
- NC_000021.9:32393769:C:G
- Gene:
- URB1 (Varview), URB1-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
2.
rs1485091516 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 21:32393939
(GRCh38)
21:33766248
(GRCh37)
- Canonical SPDI:
- NC_000021.9:32393938:T:C
- Gene:
- URB1 (Varview), URB1-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
3.
rs1480532882 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 21:32393465
(GRCh38)
21:33765774
(GRCh37)
- Canonical SPDI:
- NC_000021.9:32393464:A:C
- Gene:
- URB1 (Varview), URB1-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
4.
rs1479673283 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 21:32393284
(GRCh38)
21:33765593
(GRCh37)
- Canonical SPDI:
- NC_000021.9:32393283:G:A,NC_000021.9:32393283:G:T
- Gene:
- URB1 (Varview), URB1-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
NC_000021.9:g.32393284G>A, NC_000021.9:g.32393284G>T, NC_000021.8:g.33765593G>A, NC_000021.8:g.33765593G>T, NG_060768.1:g.465G>A, NG_060768.1:g.465G>T, NM_032910.2:c.62G>A, NM_032910.2:c.62G>T, NR_026845.1:n.152G>A, NR_026845.1:n.152G>T, NM_032910.1:c.62G>A, NM_032910.1:c.62G>T
5.
rs1475169048 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 21:32393749
(GRCh38)
21:33766058
(GRCh37)
- Canonical SPDI:
- NC_000021.9:32393748:T:A
- Gene:
- URB1 (Varview), URB1-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
6.
rs1470178965 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 21:32393724
(GRCh38)
21:33766033
(GRCh37)
- Canonical SPDI:
- NC_000021.9:32393723:C:T
- Gene:
- URB1 (Varview), URB1-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000023/6
(TOPMED)
T=0.000036/5
(GnomAD)
- HGVS:
7.
rs1470163076 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 21:32393570
(GRCh38)
21:33765879
(GRCh37)
- Canonical SPDI:
- NC_000021.9:32393569:G:A
- Gene:
- URB1 (Varview), URB1-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
8.
rs1469698302 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 21:32393671
(GRCh38)
21:33765980
(GRCh37)
- Canonical SPDI:
- NC_000021.9:32393670:A:G,NC_000021.9:32393670:A:T
- Gene:
- URB1 (Varview), URB1-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
9.
rs1467803572 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 21:32393399
(GRCh38)
21:33765708
(GRCh37)
- Canonical SPDI:
- NC_000021.9:32393398:A:C
- Gene:
- URB1 (Varview), URB1-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000009/1
(GnomAD_exomes)
- HGVS:
10.
rs1464451200 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 21:32393775
(GRCh38)
21:33766084
(GRCh37)
- Canonical SPDI:
- NC_000021.9:32393774:C:T
- Gene:
- URB1 (Varview), URB1-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
11.
rs1461044204 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 21:32393589
(GRCh38)
21:33765898
(GRCh37)
- Canonical SPDI:
- NC_000021.9:32393588:T:C
- Gene:
- URB1 (Varview), URB1-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.00003/8
(TOPMED)
- HGVS:
12.
rs1459152801 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 21:32393368
(GRCh38)
21:33765677
(GRCh37)
- Canonical SPDI:
- NC_000021.9:32393367:C:G
- Gene:
- URB1 (Varview), URB1-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000015/2
(GnomAD_exomes)
- HGVS:
13.
rs1453086180 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 21:32393683
(GRCh38)
21:33765992
(GRCh37)
- Canonical SPDI:
- NC_000021.9:32393682:C:T
- Gene:
- URB1 (Varview), URB1-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
14.
rs1450288043 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 21:32393337
(GRCh38)
21:33765646
(GRCh37)
- Canonical SPDI:
- NC_000021.9:32393336:C:A
- Gene:
- URB1 (Varview), URB1-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00013/3
(
ALFA)
A=0.000034/9
(TOPMED)
A=0.000043/6
(GnomAD)
- HGVS:
15.
rs1449920270 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 21:32393411
(GRCh38)
21:33765720
(GRCh37)
- Canonical SPDI:
- NC_000021.9:32393410:A:G
- Gene:
- URB1 (Varview), URB1-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.00001/1
(GnomAD_exomes)
- HGVS:
16.
rs1447866596 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 21:32393156
(GRCh38)
21:33765465
(GRCh37)
- Canonical SPDI:
- NC_000021.9:32393155:G:C
- Gene:
- URB1 (Varview), URB1-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
17.
rs1445008605 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 21:32393210
(GRCh38)
21:33765519
(GRCh37)
- Canonical SPDI:
- NC_000021.9:32393209:T:A
- Gene:
- URB1 (Varview), URB1-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
18.
rs1443879977 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 21:32393169
(GRCh38)
21:33765478
(GRCh37)
- Canonical SPDI:
- NC_000021.9:32393168:C:G,NC_000021.9:32393168:C:T
- Gene:
- URB1 (Varview), URB1-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
NC_000021.9:g.32393169C>G, NC_000021.9:g.32393169C>T, NC_000021.8:g.33765478C>G, NC_000021.8:g.33765478C>T, NG_060768.1:g.350C>G, NG_060768.1:g.350C>T, NM_032910.2:c.-54C>G, NM_032910.2:c.-54C>T, NR_026845.1:n.37C>G, NR_026845.1:n.37C>T, NM_032910.1:c.-54C>G, NM_032910.1:c.-54C>T
19.
rs1443537619 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 21:32393446
(GRCh38)
21:33765755
(GRCh37)
- Canonical SPDI:
- NC_000021.9:32393445:T:G
- Gene:
- URB1 (Varview), URB1-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
G=0.000023/1
(GnomAD_exomes)
- HGVS:
20.
rs1442154362 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 21:32393296
(GRCh38)
21:33765605
(GRCh37)
- Canonical SPDI:
- NC_000021.9:32393295:T:G
- Gene:
- URB1 (Varview), URB1-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000014/2
(GnomAD_exomes)
- HGVS: