Links from Nucleotide
Items: 1 to 20 of 1015
1.
rs1489182391 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 12:7116038
(GRCh38)
12:7268634
(GRCh37)
- Canonical SPDI:
- NC_000012.12:7116037:A:C
- Gene:
- RBP5 (Varview), C1RL-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_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:
2.
rs1488864601 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 12:7119508
(GRCh38)
12:7272104
(GRCh37)
- Canonical SPDI:
- NC_000012.12:7119507:C:A,NC_000012.12:7119507:C:G
- Gene:
- RBP5 (Varview), C1RL-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
3.
rs1488225230 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:7111517
(GRCh38)
12:7264113
(GRCh37)
- Canonical SPDI:
- NC_000012.12:7111516:G:A
- Gene:
- C1RL-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
4.
rs1485957415 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:7116449
(GRCh38)
12:7269045
(GRCh37)
- Canonical SPDI:
- NC_000012.12:7116448:C:T
- Gene:
- RBP5 (Varview), C1RL-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
5.
rs1485169705 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 12:7116957
(GRCh38)
12:7269553
(GRCh37)
- Canonical SPDI:
- NC_000012.12:7116956:C:A
- Gene:
- RBP5 (Varview), C1RL-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
6.
rs1485031071 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 12:7116418
(GRCh38)
12:7269014
(GRCh37)
- Canonical SPDI:
- NC_000012.12:7116417:T:G
- Gene:
- RBP5 (Varview), C1RL-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
7.
rs1484985925 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:7118157
(GRCh38)
12:7270753
(GRCh37)
- Canonical SPDI:
- NC_000012.12:7118156:G:A
- Gene:
- RBP5 (Varview), C1RL-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
8.
rs1484337675 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 12:7116362
(GRCh38)
12:7268958
(GRCh37)
- Canonical SPDI:
- NC_000012.12:7116361:C:G,NC_000012.12:7116361:C:T
- Gene:
- RBP5 (Varview), C1RL-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
NC_000012.12:g.7116362C>G, NC_000012.12:g.7116362C>T, NC_000012.11:g.7268958C>G, NC_000012.11:g.7268958C>T, NW_021160008.1:g.44048C>G, NW_021160008.1:g.44048C>T, XR_001748882.2:n.1684G>C, XR_001748882.2:n.1684G>A, NR_026947.1:n.2515C>G, NR_026947.1:n.2515C>T, XR_007063132.1:n.1881G>C, XR_007063132.1:n.1881G>A, XR_007063133.1:n.1790G>C, XR_007063133.1:n.1790G>A
9.
rs1484047711 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:7108424
(GRCh38)
12:7261020
(GRCh37)
- Canonical SPDI:
- NC_000012.12:7108423:G:A
- Gene:
- C1RL (Varview), C1RL-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
NC_000012.12:g.7108424G>A, NC_000012.11:g.7261020G>A, NW_021160008.1:g.36110G>A, NM_016546.4:c.127C>T, NM_016546.3:c.127C>T, NM_016546.2:c.127C>T, NM_001297642.2:c.127C>T, NM_001297642.1:c.127C>T, NM_001297640.2:c.127C>T, NM_001297640.1:c.127C>T, NM_001297643.2:c.127C>T, NM_001297643.1:c.127C>T, NR_026947.1:n.117G>A, NP_057630.2:p.Leu43Phe, NP_001284571.1:p.Leu43Phe, NP_001284569.1:p.Leu43Phe, NP_001284572.1:p.Leu43Phe
10.
rs1483213246 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 12:7115884
(GRCh38)
12:7268480
(GRCh37)
- Canonical SPDI:
- NC_000012.12:7115883:G:T
- Gene:
- RBP5 (Varview), C1RL-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
11.
rs1483015554 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:7111507
(GRCh38)
12:7264103
(GRCh37)
- Canonical SPDI:
- NC_000012.12:7111506:C:T
- Gene:
- C1RL-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000026/7
(TOPMED)
T=0.00006/1
(TOMMO)
- HGVS:
12.
rs1481508734 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:7108443
(GRCh38)
12:7261039
(GRCh37)
- Canonical SPDI:
- NC_000012.12:7108442:G:A
- Gene:
- C1RL (Varview), C1RL-AS1 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000031/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000008/2
(GnomAD_exomes)
- HGVS:
NC_000012.12:g.7108443G>A, NC_000012.11:g.7261039G>A, NW_021160008.1:g.36129G>A, NM_016546.4:c.108C>T, NM_016546.3:c.108C>T, NM_016546.2:c.108C>T, NM_001297642.2:c.108C>T, NM_001297642.1:c.108C>T, NM_001297640.2:c.108C>T, NM_001297640.1:c.108C>T, NM_001297643.2:c.108C>T, NM_001297643.1:c.108C>T, NR_026947.1:n.136G>A
13.
rs1481350312 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 12:7119541
(GRCh38)
12:7272137
(GRCh37)
- Canonical SPDI:
- NC_000012.12:7119540:C:A,NC_000012.12:7119540:C:G
- Gene:
- RBP5 (Varview), C1RL-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1477698996 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 12:7110418
(GRCh38)
12:7263014
(GRCh37)
- Canonical SPDI:
- NC_000012.12:7110417:G:A,NC_000012.12:7110417:G:T
- Gene:
- C1RL (Varview), C1RL-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)
A=0.000007/1
(GnomAD)
- HGVS:
15.
rs1477458158 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:7118675
(GRCh38)
12:7271271
(GRCh37)
- Canonical SPDI:
- NC_000012.12:7118674:G:A
- Gene:
- RBP5 (Varview), C1RL-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
17.
rs1476285853 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:7117669
(GRCh38)
12:7270265
(GRCh37)
- Canonical SPDI:
- NC_000012.12:7117668:G:A
- Gene:
- RBP5 (Varview), C1RL-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
18.
rs1475228592 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 12:7119014
(GRCh38)
12:7271610
(GRCh37)
- Canonical SPDI:
- NC_000012.12:7119013:G:C
- Gene:
- RBP5 (Varview), C1RL-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
19.
rs1474705345 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:7118408
(GRCh38)
12:7271004
(GRCh37)
- Canonical SPDI:
- NC_000012.12:7118407:A:G
- Gene:
- RBP5 (Varview), C1RL-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000342/1
(KOREAN)
G=0.001092/2
(Korea1K)
G=0.005131/86
(TOMMO)
- HGVS:
20.
rs1474244765 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:7117799
(GRCh38)
12:7270395
(GRCh37)
- Canonical SPDI:
- NC_000012.12:7117798:A:G
- Gene:
- RBP5 (Varview), C1RL-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS: