Links from Nucleotide
Items: 1 to 20 of 136
1.
rs1484740961 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:81515107
(GRCh38)
1:81980792
(GRCh37)
- Canonical SPDI:
- NC_000001.11:81515106:G:T
- Gene:
- ADGRL2 (Varview), LOC101927434 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
2.
rs1480152982 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:81515128
(GRCh38)
1:81980813
(GRCh37)
- Canonical SPDI:
- NC_000001.11:81515127:A:G
- Gene:
- ADGRL2 (Varview), LOC101927434 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000019/5
(TOPMED)
G=0.000035/1
(TOMMO)
- HGVS:
3.
rs1476201505 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 1:81513888
(GRCh38)
1:81979573
(GRCh37)
- Canonical SPDI:
- NC_000001.11:81513887:T:A
- Gene:
- ADGRL2 (Varview), LOC101927434 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
4.
rs1476071954 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 1:81515002
(GRCh38)
1:81980687
(GRCh37)
- Canonical SPDI:
- NC_000001.11:81515001:G:
- Gene:
- ADGRL2 (Varview), LOC101927434 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000015/4
(TOPMED)
- HGVS:
5.
rs1474176869 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 1:81515111
(GRCh38)
1:81980796
(GRCh37)
- Canonical SPDI:
- NC_000001.11:81515110:G:A,NC_000001.11:81515110:G:T
- Gene:
- ADGRL2 (Varview), LOC101927434 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000029/4
(GnomAD)
- HGVS:
6.
rs1471485500 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:81513979
(GRCh38)
1:81979664
(GRCh37)
- Canonical SPDI:
- NC_000001.11:81513978:C:G
- Gene:
- ADGRL2 (Varview), LOC101927434 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
7.
rs1462521453 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:81514948
(GRCh38)
1:81980633
(GRCh37)
- Canonical SPDI:
- NC_000001.11:81514947:A:T
- Gene:
- ADGRL2 (Varview), LOC101927434 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
8.
rs1459908314 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:81513942
(GRCh38)
1:81979627
(GRCh37)
- Canonical SPDI:
- NC_000001.11:81513941:A:G
- Gene:
- ADGRL2 (Varview), LOC101927434 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000023/6
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
10.
rs1453778880 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:81514843
(GRCh38)
1:81980528
(GRCh37)
- Canonical SPDI:
- NC_000001.11:81514842:C:T
- Gene:
- ADGRL2 (Varview), LOC101927434 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
11.
rs1440403043 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTT>-
[Show Flanks]
- Chromosome:
- 1:81514692
(GRCh38)
1:81980377
(GRCh37)
- Canonical SPDI:
- NC_000001.11:81514688:CTTCTT:CTT
- Gene:
- ADGRL2 (Varview), LOC101927434 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTTCTT=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
12.
rs1438644789 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:81515147
(GRCh38)
1:81980832
(GRCh37)
- Canonical SPDI:
- NC_000001.11:81515146:A:G
- Gene:
- ADGRL2 (Varview), LOC101927434 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000049/13
(TOPMED)
- HGVS:
13.
rs1414664033 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:81514986
(GRCh38)
1:81980671
(GRCh37)
- Canonical SPDI:
- NC_000001.11:81514985:G:A
- Gene:
- ADGRL2 (Varview), LOC101927434 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
14.
rs1409708197 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:81514045
(GRCh38)
1:81979730
(GRCh37)
- Canonical SPDI:
- NC_000001.11:81514044:G:T
- Gene:
- ADGRL2 (Varview), LOC101927434 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
15.
rs1402928476 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 1:81514842
(GRCh38)
1:81980527
(GRCh37)
- Canonical SPDI:
- NC_000001.11:81514841:G:A,NC_000001.11:81514841:G:T
- Gene:
- ADGRL2 (Varview), LOC101927434 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_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:
16.
rs1397284523 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATGCCTGATGACAT>-
[Show Flanks]
- Chromosome:
- 1:81514870
(GRCh38)
1:81980555
(GRCh37)
- Canonical SPDI:
- NC_000001.11:81514866:CATATGCCTGATGACAT:CAT
- Gene:
- ADGRL2 (Varview), LOC101927434 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CAT=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
17.
rs1390736865 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:81514655
(GRCh38)
1:81980340
(GRCh37)
- Canonical SPDI:
- NC_000001.11:81514654:A:G
- Gene:
- ADGRL2 (Varview), LOC101927434 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000021/3
(GnomAD)
- HGVS:
18.
rs1390139111 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:81557678
(GRCh38)
1:82023363
(GRCh37)
- Canonical SPDI:
- NC_000001.11:81557677:A:G
- Gene:
- ADGRL2 (Varview), LOC101927434 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000021/3
(GnomAD)
G=0.000035/1
(TOMMO)
- HGVS:
20.
rs1368705190 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:81514941
(GRCh38)
1:81980626
(GRCh37)
- Canonical SPDI:
- NC_000001.11:81514940:A:G
- Gene:
- ADGRL2 (Varview), LOC101927434 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS: