Links from Gene
Items: 1 to 20 of 1811
1.
rs1491048791 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- X:120112426
(GRCh38)
X:119246355
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120112425:AA:
- Gene:
- RHOXF1 (Varview), RHOXF1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00041/9
(TOMMO)
- HGVS:
2.
rs1490849108 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:120109865
(GRCh38)
X:119243823
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120109864:G:A
- Gene:
- RHOXF1 (Varview), RHOXF1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00001/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
3.
rs1490236377 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- X:120118625
(GRCh38)
X:119252535
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120118624:T:A
- Gene:
- RHOXF1 (Varview), RHOXF1-AS1 (Varview), LINC01402 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.00001/1
(GnomAD)
- HGVS:
4.
rs1489992835 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:120110079
(GRCh38)
X:119244037
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120110078:G:A
- Gene:
- RHOXF1 (Varview), RHOXF1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
5.
rs1489865248 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:120108806
(GRCh38)
X:119242764
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120108805:C:T
- Gene:
- RHOXF1 (Varview), RHOXF1-AS1 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.00003/3
(GnomAD)
T=0.000045/1
(TOMMO)
- HGVS:
6.
rs1489173807 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- X:120112531
(GRCh38)
X:119246441
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120112530:T:A
- Gene:
- RHOXF1 (Varview), RHOXF1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00008/1
(
ALFA)
A=0.00001/1
(GnomAD)
A=0.00005/1
(TOMMO)
T=0.5/1
(SGDP_PRJ)
- HGVS:
7.
rs1489066903 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- X:120116517
(GRCh38)
X:119250427
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120116516:C:G,NC_000023.11:120116516:C:T
- Gene:
- RHOXF1 (Varview), RHOXF1-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.00001/1
(GnomAD)
- HGVS:
8.
rs1488995667 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:120117920
(GRCh38)
X:119251830
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120117919:T:C
- Gene:
- RHOXF1 (Varview), RHOXF1-AS1 (Varview), LINC01402 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
10.
rs1488003731 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:120112058
(GRCh38)
X:119246016
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120112057:A:G
- Gene:
- RHOXF1 (Varview), RHOXF1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000019/2
(GnomAD)
- HGVS:
11.
rs1486997620 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- X:120110545
(GRCh38)
X:119244503
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120110544:A:C
- Gene:
- RHOXF1 (Varview), RHOXF1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000019/2
(GnomAD)
- HGVS:
12.
rs1486521634 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- X:120111812
(GRCh38)
X:119245770
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120111811:C:G
- Gene:
- RHOXF1 (Varview), RHOXF1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.00001/1
(GnomAD)
- HGVS:
13.
rs1485805377 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- X:120117728
(GRCh38)
X:119251638
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120117727:G:A,NC_000023.11:120117727:G:C
- Gene:
- RHOXF1 (Varview), RHOXF1-AS1 (Varview), LINC01402 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.00001/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
14.
rs1485737666 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:120119436
(GRCh38)
X:119253346
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120119435:G:A
- Gene:
- RHOXF1 (Varview), RHOXF1-AS1 (Varview), LINC01402 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
A=0.000048/5
(GnomAD)
- HGVS:
15.
rs1485683781 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- X:120114087
(GRCh38)
X:119247997
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120114086:G:C
- Gene:
- RHOXF1 (Varview), RHOXF1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
16.
rs1484736633 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- X:120112731
(GRCh38)
X:119246641
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120112730:T:G
- Gene:
- RHOXF1 (Varview), RHOXF1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000023/6
(TOPMED)
G=0.000029/3
(GnomAD)
- HGVS:
17.
rs1484612375 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:120109245
(GRCh38)
X:119243203
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120109244:C:T
- Gene:
- RHOXF1 (Varview), RHOXF1-AS1 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.00001/1
(GnomAD)
- HGVS:
18.
rs1484221529 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- X:120116663
(GRCh38)
X:119250573
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120116662:A:T
- Gene:
- RHOXF1 (Varview), RHOXF1-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
19.
rs1483513959 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AG
[Show Flanks]
- Chromosome:
- X:120117400
(GRCh38)
X:119251311
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120117400:G:GAG
- Gene:
- RHOXF1 (Varview), RHOXF1-AS1 (Varview), LINC01402 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
GAG=0./0
(
ALFA)
GA=0.000011/3
(TOPMED)
- HGVS:
20.
rs1482626350 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:120116868
(GRCh38)
X:119250778
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120116867:C:T
- Gene:
- RHOXF1 (Varview), RHOXF1-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000019/2
(GnomAD)
T=0.000023/6
(TOPMED)
- HGVS: