Links from Nucleotide
Items: 1 to 20 of 163
1.
rs1482699850 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:48590458
(GRCh38)
17:46667820
(GRCh37)
- Canonical SPDI:
- NC_000017.11:48590457:G:A
- Gene:
- HOXB3 (Varview), HOXB-AS3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
2.
rs1481834269 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:48600454
(GRCh38)
17:46677816
(GRCh37)
- Canonical SPDI:
- NC_000017.11:48600453:G:A
- Gene:
- HOXB6 (Varview), HOXB-AS3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/1
(GnomAD_exomes)
A=0.000008/2
(TOPMED)
- HGVS:
3.
rs1480484101 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 17:48602104
(GRCh38)
17:46679466
(GRCh37)
- Canonical SPDI:
- NC_000017.11:48602103:G:C
- Gene:
- HOXB6 (Varview), HOXB-AS3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
4.
rs1472644196 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 17:48600512
(GRCh38)
17:46677874
(GRCh37)
- Canonical SPDI:
- NC_000017.11:48600511:A:C
- Gene:
- HOXB6 (Varview), HOXB-AS3 (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:
5.
rs1467721692 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:48602268
(GRCh38)
17:46679630
(GRCh37)
- Canonical SPDI:
- NC_000017.11:48602267:C:T
- Gene:
- HOXB6 (Varview), HOXB-AS3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
7.
rs1459609735 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 17:48600533
(GRCh38)
17:46677895
(GRCh37)
- Canonical SPDI:
- NC_000017.11:48600532:T:G
- Gene:
- HOXB6 (Varview), HOXB-AS3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
G=0.000008/1
(GnomAD_exomes)
- HGVS:
8.
rs1453463165 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:48600498
(GRCh38)
17:46677860
(GRCh37)
- Canonical SPDI:
- NC_000017.11:48600497:C:T
- Gene:
- HOXB6 (Varview), HOXB-AS3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000054/1
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000023/3
(GnomAD_exomes)
T=0.000029/4
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
9.
rs1446604587 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 17:48602299
(GRCh38)
17:46679661
(GRCh37)
- Canonical SPDI:
- NC_000017.11:48602298:G:A,NC_000017.11:48602298:G:C
- Gene:
- HOXB6 (Varview), HOXB-AS3 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000017.11:g.48602299G>A, NC_000017.11:g.48602299G>C, NC_000017.10:g.46679661G>A, NC_000017.10:g.46679661G>C, NG_046953.1:g.7694C>T, NG_046953.1:g.7694C>G, NR_033202.2:n.494G>A, NR_033202.2:n.494G>C, NR_033202.1:n.434G>A, NR_033202.1:n.434G>C, NR_110331.1:n.730G>A, NR_110331.1:n.730G>C, NR_033205.1:n.490G>A, NR_033205.1:n.490G>C, NR_033203.1:n.397G>A, NR_033203.1:n.397G>C, NR_110330.1:n.391G>A, NR_110330.1:n.391G>C, NR_110329.1:n.294G>A, NR_110329.1:n.294G>C
10.
rs1438517477 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:48600474
(GRCh38)
17:46677836
(GRCh37)
- Canonical SPDI:
- NC_000017.11:48600473:C:T
- Gene:
- HOXB6 (Varview), HOXB-AS3 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000008/1
(GnomAD_exomes)
- HGVS:
11.
rs1435552427 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:48590431
(GRCh38)
17:46667793
(GRCh37)
- Canonical SPDI:
- NC_000017.11:48590430:T:C
- Gene:
- HOXB3 (Varview), HOXB-AS3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,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:
12.
rs1430065102 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:48600545
(GRCh38)
17:46677907
(GRCh37)
- Canonical SPDI:
- NC_000017.11:48600544:G:A
- Gene:
- HOXB6 (Varview), HOXB-AS3 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000895/4
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/1
(GnomAD_exomes)
A=0.000893/4
(Estonian)
- HGVS:
13.
rs1426935828 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:48602224
(GRCh38)
17:46679586
(GRCh37)
- Canonical SPDI:
- NC_000017.11:48602223:A:G
- Gene:
- HOXB6 (Varview), HOXB-AS3 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000008/1
(GnomAD_exomes)
- HGVS:
15.
rs1411952003 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:48602127
(GRCh38)
17:46679489
(GRCh37)
- Canonical SPDI:
- NC_000017.11:48602126:G:A
- Gene:
- HOXB6 (Varview), HOXB-AS3 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
16.
rs1408635835 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 17:48600471
(GRCh38)
17:46677833
(GRCh37)
- Canonical SPDI:
- NC_000017.11:48600470:C:G
- Gene:
- HOXB6 (Varview), HOXB-AS3 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1407691904 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 17:48602276
(GRCh38)
17:46679638
(GRCh37)
- Canonical SPDI:
- NC_000017.11:48602275:T:A
- Gene:
- HOXB6 (Varview), HOXB-AS3 (Varview)
- Functional Consequence:
- intron_variant,non_coding_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:
19.
rs1399527389 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:48600490
(GRCh38)
17:46677852
(GRCh37)
- Canonical SPDI:
- NC_000017.11:48600489:C:T
- Gene:
- HOXB6 (Varview), HOXB-AS3 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000016/2
(GnomAD_exomes)
- HGVS:
20.
rs1399062005 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:48602214
(GRCh38)
17:46679576
(GRCh37)
- Canonical SPDI:
- NC_000017.11:48602213:C:T
- Gene:
- HOXB6 (Varview), HOXB-AS3 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000008/1
(GnomAD_exomes)
- HGVS: