Links from Nucleotide
Items: 1 to 20 of 3019
1.
rs1491332261 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TTGT
[Show Flanks]
- Chromosome:
- 7:27169094
(GRCh38)
7:27208714
(GRCh37)
- Canonical SPDI:
- NC_000007.14:27169094:TGT:TGTTTGT
- Gene:
- MIR196B (Varview), HOXA10-HOXA9 (Varview), HOXA10-AS (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TGTTTGT=0./0
(
ALFA)
TGTT=0.00049/3
(GnomAD)
- HGVS:
2.
rs1490812225 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 7:27168027
(GRCh38)
7:27207646
(GRCh37)
- Canonical SPDI:
- NC_000007.14:27168026:G:C
- Gene:
- HOXA10-HOXA9 (Varview), HOXA10-AS (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
3.
rs1490622306 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 7:27163424
(GRCh38)
7:27203043
(GRCh37)
- Canonical SPDI:
- NC_000007.14:27163423:C:G,NC_000007.14:27163423:C:T
- Gene:
- HOXA9 (Varview), HOXA10-HOXA9 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
NC_000007.14:g.27163424C>G, NC_000007.14:g.27163424C>T, NC_000007.13:g.27203043C>G, NC_000007.13:g.27203043C>T, NG_029923.1:g.7107G>C, NG_029923.1:g.7107G>A, NM_152739.4:c.*179G>C, NM_152739.4:c.*179G>A, NM_152739.3:c.*179G>C, NM_152739.3:c.*179G>A, NG_046720.1:g.463C>G, NG_046720.1:g.463C>T, NM_002142.3:c.*504G>C, NM_002142.3:c.*504G>A, NR_037940.1:n.1124G>C, NR_037940.1:n.1124G>A
4.
rs1490245673 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:27169432
(GRCh38)
7:27209051
(GRCh37)
- Canonical SPDI:
- NC_000007.14:27169431:G:A
- Gene:
- MIR196B (Varview), HOXA10-HOXA9 (Varview), HOXA10-AS (Varview)
- Functional Consequence:
- downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency
- MAF:
A=0.000009/2
(GnomAD_exomes)
- HGVS:
6.
rs1489712953 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 7:27164368
(GRCh38)
7:27203987
(GRCh37)
- Canonical SPDI:
- NC_000007.14:27164367:A:T
- Gene:
- HOXA9 (Varview), HOXA10-HOXA9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
7.
rs1489660101 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 7:27163454
(GRCh38)
7:27203073
(GRCh37)
- Canonical SPDI:
- NC_000007.14:27163453:A:C,NC_000007.14:27163453:A:G
- Gene:
- HOXA9 (Varview), HOXA10-HOXA9 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000007.14:g.27163454A>C, NC_000007.14:g.27163454A>G, NC_000007.13:g.27203073A>C, NC_000007.13:g.27203073A>G, NG_029923.1:g.7077T>G, NG_029923.1:g.7077T>C, NM_152739.4:c.*149T>G, NM_152739.4:c.*149T>C, NM_152739.3:c.*149T>G, NM_152739.3:c.*149T>C, NG_046720.1:g.493A>C, NG_046720.1:g.493A>G, NM_002142.3:c.*474T>G, NM_002142.3:c.*474T>C, NR_037940.1:n.1094T>G, NR_037940.1:n.1094T>C
8.
rs1489578740 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:27166437
(GRCh38)
7:27206056
(GRCh37)
- Canonical SPDI:
- NC_000007.14:27166436:G:A
- Gene:
- HOXA9 (Varview), HOXA10-HOXA9 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
9.
rs1489452348 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 7:27166225
(GRCh38)
7:27205844
(GRCh37)
- Canonical SPDI:
- NC_000007.14:27166224:G:T
- Gene:
- HOXA9 (Varview), HOXA10-HOXA9 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
10.
rs1489376836 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:27169357
(GRCh38)
7:27208976
(GRCh37)
- Canonical SPDI:
- NC_000007.14:27169356:G:A
- Gene:
- MIR196B (Varview), HOXA10-HOXA9 (Varview), HOXA10-AS (Varview)
- Functional Consequence:
- downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
11.
rs1489016019 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 7:27160997
(GRCh38)
7:27200616
(GRCh37)
- Canonical SPDI:
- NC_000007.14:27160996:A:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
12.
rs1487919558 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 7:27163218
(GRCh38)
7:27202837
(GRCh37)
- Canonical SPDI:
- NC_000007.14:27163217:C:A,NC_000007.14:27163217:C:T
- Gene:
- HOXA9 (Varview), HOXA10-HOXA9 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
NC_000007.14:g.27163218C>A, NC_000007.14:g.27163218C>T, NC_000007.13:g.27202837C>A, NC_000007.13:g.27202837C>T, NG_029923.1:g.7313G>T, NG_029923.1:g.7313G>A, NM_152739.4:c.*385G>T, NM_152739.4:c.*385G>A, NM_152739.3:c.*385G>T, NM_152739.3:c.*385G>A, NG_046720.1:g.257C>A, NG_046720.1:g.257C>T, NM_002142.3:c.*710G>T, NM_002142.3:c.*710G>A, NR_037940.1:n.1330G>T, NR_037940.1:n.1330G>A
13.
rs1487816836 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 7:27165814
(GRCh38)
7:27205433
(GRCh37)
- Canonical SPDI:
- NC_000007.14:27165813:C:A,NC_000007.14:27165813:C:G,NC_000007.14:27165813:C:T
- Gene:
- HOXA9 (Varview), HOXA10-HOXA9 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000007.14:g.27165814C>A, NC_000007.14:g.27165814C>G, NC_000007.14:g.27165814C>T, NC_000007.13:g.27205433C>A, NC_000007.13:g.27205433C>G, NC_000007.13:g.27205433C>T, NG_029923.1:g.4717G>T, NG_029923.1:g.4717G>C, NG_029923.1:g.4717G>A, NG_046720.1:g.2853C>A, NG_046720.1:g.2853C>G, NG_046720.1:g.2853C>T
14.
rs1487648949 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:27169906
(GRCh38)
7:27209525
(GRCh37)
- Canonical SPDI:
- NC_000007.14:27169905:G:A
- Gene:
- MIR196B (Varview), HOXA10-HOXA9 (Varview), HOXA10-AS (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
15.
rs1487616971 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 7:27168748
(GRCh38)
7:27208367
(GRCh37)
- Canonical SPDI:
- NC_000007.14:27168747:C:G,NC_000007.14:27168747:C:T
- Gene:
- HOXA10-HOXA9 (Varview), HOXA10-AS (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
16.
rs1487488174 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:27161274
(GRCh38)
7:27200893
(GRCh37)
- Canonical SPDI:
- NC_000007.14:27161273:A:G
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
17.
rs1486384351 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 7:27162703
(GRCh38)
7:27202322
(GRCh37)
- Canonical SPDI:
- NC_000007.14:27162702:C:A,NC_000007.14:27162702:C:T
- Gene:
- HOXA9 (Varview), HOXA10-HOXA9 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
T=0.000071/1
(TOMMO)
- HGVS:
NC_000007.14:g.27162703C>A, NC_000007.14:g.27162703C>T, NC_000007.13:g.27202322C>A, NC_000007.13:g.27202322C>T, NG_029923.1:g.7828G>T, NG_029923.1:g.7828G>A, NM_152739.4:c.*900G>T, NM_152739.4:c.*900G>A, NM_152739.3:c.*900G>T, NM_152739.3:c.*900G>A, NM_002142.3:c.*1225G>T, NM_002142.3:c.*1225G>A, NR_037940.1:n.1845G>T, NR_037940.1:n.1845G>A
18.
rs1486311073 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AGA
[Show Flanks]
- Chromosome:
- 7:27165780
(GRCh38)
7:27205400
(GRCh37)
- Canonical SPDI:
- NC_000007.14:27165780:A:AAGA
- Gene:
- HOXA9 (Varview), HOXA10-HOXA9 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAGA=0./0
(
ALFA)
AAG=0.000015/4
(TOPMED)
AAG=0.000029/4
(GnomAD)
- HGVS:
19.
rs1486263532 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 7:27162195
(GRCh38)
7:27201814
(GRCh37)
- Canonical SPDI:
- NC_000007.14:27162194:T:G
- Gene:
- HOXA9 (Varview), HOXA10-HOXA9 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
20.
rs1486225427 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:27166286
(GRCh38)
7:27205905
(GRCh37)
- Canonical SPDI:
- NC_000007.14:27166285:C:T
- Gene:
- HOXA9 (Varview), HOXA10-HOXA9 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS: