Links from Nucleotide
Items: 1 to 20 of 412
1.
rs1488880944 has merged into rs1222360502 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TCTC>-,TC
[Show Flanks]
- Chromosome:
- 7:27185885
(GRCh38)
7:27225504
(GRCh37)
- Canonical SPDI:
- NC_000007.14:27185881:CTCTCTC:CTC,NC_000007.14:27185881:CTCTCTC:CTCTC
- Gene:
- HOXA11 (Varview), HOXA11-AS (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTCTC=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
2.
rs1487970411 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 7:27188916
(GRCh38)
7:27228535
(GRCh37)
- Canonical SPDI:
- NC_000007.14:27188915:C:A,NC_000007.14:27188915:C:T
- Gene:
- HOXA11-AS (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
3.
rs1486088112 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 7:27186075
(GRCh38)
7:27225694
(GRCh37)
- Canonical SPDI:
- NC_000007.14:27186074:C:A
- Gene:
- HOXA11 (Varview), HOXA11-AS (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
5.
rs1483733733 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 7:27188801
(GRCh38)
7:27228420
(GRCh37)
- Canonical SPDI:
- NC_000007.14:27188799:TGT:T
- Gene:
- HOXA11-AS (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
6.
rs1482204883 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:27188706
(GRCh38)
7:27228325
(GRCh37)
- Canonical SPDI:
- NC_000007.14:27188705:G:A
- Gene:
- HOXA11-AS (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
7.
rs1482157164 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 7:27189168
(GRCh38)
7:27228787
(GRCh37)
- Canonical SPDI:
- NC_000007.14:27189167:T:C,NC_000007.14:27189167:T:G
- Gene:
- HOXA11-AS (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
8.
rs1481825380 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 7:27188714
(GRCh38)
7:27228333
(GRCh37)
- Canonical SPDI:
- NC_000007.14:27188713:A:C,NC_000007.14:27188713:A:G
- Gene:
- HOXA11-AS (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000045/12
(TOPMED)
C=0.000212/4
(TOMMO)
C=0.000342/1
(KOREAN)
- HGVS:
9.
rs1480129269 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:27185794
(GRCh38)
7:27225413
(GRCh37)
- Canonical SPDI:
- NC_000007.14:27185793:C:T
- Gene:
- HOXA11 (Varview), HOXA11-AS (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
10.
rs1476717241 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:27185701
(GRCh38)
7:27225320
(GRCh37)
- Canonical SPDI:
- NC_000007.14:27185700:G:A
- Gene:
- HOXA11 (Varview), HOXA11-AS (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_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:
11.
rs1475135318 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:27189056
(GRCh38)
7:27228675
(GRCh37)
- Canonical SPDI:
- NC_000007.14:27189055:G:A
- Gene:
- HOXA11-AS (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=0.000043/6
(GnomAD)
- HGVS:
14.
rs1467983754 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:27188672
(GRCh38)
7:27228291
(GRCh37)
- Canonical SPDI:
- NC_000007.14:27188671:G:A
- Gene:
- HOXA11-AS (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000142/2
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
15.
rs1466578094 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:27189004
(GRCh38)
7:27228623
(GRCh37)
- Canonical SPDI:
- NC_000007.14:27189003:G:A
- Gene:
- HOXA11-AS (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
16.
rs1466470327 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 7:27186008
(GRCh38)
7:27225627
(GRCh37)
- Canonical SPDI:
- NC_000007.14:27186007:C:A,NC_000007.14:27186007:C:T
- Gene:
- HOXA11 (Varview), HOXA11-AS (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
A=0.000142/2
(TOMMO)
A=0.000342/1
(KOREAN)
A=0.000546/1
(Korea1K)
- HGVS:
18.
rs1464311265 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 7:27185777
(GRCh38)
7:27225396
(GRCh37)
- Canonical SPDI:
- NC_000007.14:27185776:C:A,NC_000007.14:27185776:C:G,NC_000007.14:27185776:C:T
- Gene:
- HOXA11 (Varview), HOXA11-AS (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
NC_000007.14:g.27185777C>A, NC_000007.14:g.27185777C>G, NC_000007.14:g.27185777C>T, NC_000007.13:g.27225396C>A, NC_000007.13:g.27225396C>G, NC_000007.13:g.27225396C>T, NG_012079.1:g.4440G>T, NG_012079.1:g.4440G>C, NG_012079.1:g.4440G>A, NR_002795.2:n.370C>A, NR_002795.2:n.370C>G, NR_002795.2:n.370C>T
19.
rs1464124875 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 7:27186001
(GRCh38)
7:27225620
(GRCh37)
- Canonical SPDI:
- NC_000007.14:27186000:G:C
- Gene:
- HOXA11 (Varview), HOXA11-AS (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=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
20.
rs1463609801 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 7:27185692
(GRCh38)
7:27225311
(GRCh37)
- Canonical SPDI:
- NC_000007.14:27185691:T:A
- Gene:
- HOXA11 (Varview), HOXA11-AS (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS: