Links from Gene
Items: 1 to 20 of 1709
1.
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
3.
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:
4.
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
5.
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:
6.
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:
7.
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
8.
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
9.
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
10.
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:
11.
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:
12.
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:
13.
rs1486173353 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 7:27165589
(GRCh38)
7:27205208
(GRCh37)
- Canonical SPDI:
- NC_000007.14:27165588:TT:T
- Gene:
- HOXA9 (Varview), HOXA10-HOXA9 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
14.
rs1486035273 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 7:27166515
(GRCh38)
7:27206134
(GRCh37)
- Canonical SPDI:
- NC_000007.14:27166514:T:G
- Gene:
- HOXA9 (Varview), HOXA10-HOXA9 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
16.
rs1484681070 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 7:27164965
(GRCh38)
7:27204584
(GRCh37)
- Canonical SPDI:
- NC_000007.14:27164964:C:G,NC_000007.14:27164964:C:T
- Gene:
- HOXA9 (Varview), HOXA10-HOXA9 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000043/1
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
G=0.000021/3
(GnomAD)
G=0.000023/6
(TOPMED)
- HGVS:
NC_000007.14:g.27164965C>G, NC_000007.14:g.27164965C>T, NC_000007.13:g.27204584C>G, NC_000007.13:g.27204584C>T, NG_029923.1:g.5566G>C, NG_029923.1:g.5566G>A, NM_152739.4:c.493G>C, NM_152739.4:c.493G>A, NM_152739.3:c.493G>C, NM_152739.3:c.493G>A, NG_046720.1:g.2004C>G, NG_046720.1:g.2004C>T, NM_002142.3:c.320G>C, NM_002142.3:c.320G>A, NM_002142.2:c.490G>C, NM_002142.2:c.490G>A, NR_037940.1:n.619G>C, NR_037940.1:n.619G>A, NP_689952.1:p.Asp165His, NP_689952.1:p.Asp165Asn
17.
rs1484056665 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 7:27166520
(GRCh38)
7:27206139
(GRCh37)
- Canonical SPDI:
- NC_000007.14:27166519:T:G
- Gene:
- HOXA9 (Varview), HOXA10-HOXA9 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
18.
rs1483926648 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 7:27164161
(GRCh38)
7:27203780
(GRCh37)
- Canonical SPDI:
- NC_000007.14:27164160:C:G,NC_000007.14:27164160:C:T
- Gene:
- HOXA9 (Varview), HOXA10-HOXA9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
19.
rs1483898141 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:27164626
(GRCh38)
7:27204245
(GRCh37)
- Canonical SPDI:
- NC_000007.14:27164625:C:T
- Gene:
- HOXA9 (Varview), HOXA10-HOXA9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
T=0.000342/1
(KOREAN)
- HGVS:
20.
rs1483185483 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:27164188
(GRCh38)
7:27203807
(GRCh37)
- Canonical SPDI:
- NC_000007.14:27164187:T:C
- Gene:
- HOXA9 (Varview), HOXA10-HOXA9 (Varview)
- Functional Consequence:
- 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: