Links from Nucleotide
Items: 1 to 20 of 341
1.
rs1489133796 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:101232380
(GRCh38)
10:102992137
(GRCh37)
- Canonical SPDI:
- NC_000010.11:101232379:G:A
- Gene:
- LBX1-AS1 (Varview)
- Functional Consequence:
- 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:
2.
rs1485091870 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 10:101238122
(GRCh38)
10:102997879
(GRCh37)
- Canonical SPDI:
- NC_000010.11:101238121:A:G
- Gene:
- LBX1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
3.
rs1485004154 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 10:101229733
(GRCh38)
10:102989490
(GRCh37)
- Canonical SPDI:
- NC_000010.11:101229732:G:C
- Gene:
- LBX1 (Varview), LBX1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
4.
rs1480051834 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 10:101238596
(GRCh38)
10:102998353
(GRCh37)
- Canonical SPDI:
- NC_000010.11:101238595:G:C,NC_000010.11:101238595:G:T
- Gene:
- LBX1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
5.
rs1480005941 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:101229693
(GRCh38)
10:102989450
(GRCh37)
- Canonical SPDI:
- NC_000010.11:101229692:G:A
- Gene:
- LBX1 (Varview), LBX1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
6.
rs1479324341 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 10:101238620
(GRCh38)
10:102998377
(GRCh37)
- Canonical SPDI:
- NC_000010.11:101238619:CCC:CC
- Gene:
- LBX1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0.000084/1
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
9.
rs1472330784 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 10:101238609
(GRCh38)
10:102998366
(GRCh37)
- Canonical SPDI:
- NC_000010.11:101238608:GG:G
- Gene:
- LBX1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
11.
rs1468642611 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:101238047
(GRCh38)
10:102997804
(GRCh37)
- Canonical SPDI:
- NC_000010.11:101238046:G:A
- Gene:
- LBX1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.000007/1
(GnomAD)
A=0.000008/1
(GnomAD_exomes)
- HGVS:
12.
rs1468593176 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 10:101238714
(GRCh38)
10:102998471
(GRCh37)
- Canonical SPDI:
- NC_000010.11:101238713:T:A
- Gene:
- LBX1-AS1 (Varview)
- Functional Consequence:
- 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:
13.
rs1467510018 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 10:101238060
(GRCh38)
10:102997817
(GRCh37)
- Canonical SPDI:
- NC_000010.11:101238059:C:G,NC_000010.11:101238059:C:T
- Gene:
- LBX1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
T=0.000008/1
(GnomAD_exomes)
- HGVS:
15.
rs1463408884 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:101238788
(GRCh38)
10:102998545
(GRCh37)
- Canonical SPDI:
- NC_000010.11:101238787:T:C
- Gene:
- LBX1-AS1 (Varview)
- Functional Consequence:
- 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:
16.
rs1462682400 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:101238245
(GRCh38)
10:102998002
(GRCh37)
- Canonical SPDI:
- NC_000010.11:101238244:C:T
- Gene:
- LBX1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
17.
rs1462098020 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:101238309
(GRCh38)
10:102998066
(GRCh37)
- Canonical SPDI:
- NC_000010.11:101238308:C:T
- Gene:
- LBX1-AS1 (Varview)
- Functional Consequence:
- 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:
18.
rs1461605700 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:101238655
(GRCh38)
10:102998412
(GRCh37)
- Canonical SPDI:
- NC_000010.11:101238654:C:T
- Gene:
- LBX1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000057/8
(GnomAD)
- HGVS:
19.
rs1461368711 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:101238349
(GRCh38)
10:102998106
(GRCh37)
- Canonical SPDI:
- NC_000010.11:101238348:G:A
- Gene:
- LBX1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
20.
rs1460518595 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 10:101229627
(GRCh38)
10:102989384
(GRCh37)
- Canonical SPDI:
- NC_000010.11:101229626:G:A,NC_000010.11:101229626:G:C
- Gene:
- LBX1 (Varview), LBX1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS: