Links from Gene
Items: 1 to 20 of 4475
2.
rs1491234030 has merged into rs10591827 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACACACACACACACACACACA>-,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 1:84370217
(GRCh38)
1:84835900
(GRCh37)
- Canonical SPDI:
- NC_000001.11:84370197:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000001.11:84370197:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000001.11:84370197:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000001.11:84370197:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000001.11:84370197:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000001.11:84370197:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000001.11:84370197:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000001.11:84370197:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000001.11:84370197:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000001.11:84370197:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000001.11:84370197:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:84370197:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:84370197:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:84370197:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:84370197:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:84370197:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:84370197:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:84370197:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:84370197:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:84370197:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:84370197:ACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- UOX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACACACACACA=0./0
(
ALFA)
ACACAC=0./0
(GENOME_DK)
- HGVS:
NC_000001.11:g.84370199CA[9], NC_000001.11:g.84370199CA[11], NC_000001.11:g.84370199CA[12], NC_000001.11:g.84370199CA[13], NC_000001.11:g.84370199CA[14], NC_000001.11:g.84370199CA[15], NC_000001.11:g.84370199CA[16], NC_000001.11:g.84370199CA[17], NC_000001.11:g.84370199CA[18], NC_000001.11:g.84370199CA[19], NC_000001.11:g.84370199CA[20], NC_000001.11:g.84370199CA[21], NC_000001.11:g.84370199CA[22], NC_000001.11:g.84370199CA[23], NC_000001.11:g.84370199CA[24], NC_000001.11:g.84370199CA[26], NC_000001.11:g.84370199CA[27], NC_000001.11:g.84370199CA[28], NC_000001.11:g.84370199CA[29], NC_000001.11:g.84370199CA[30], NC_000001.11:g.84370199CA[31], NC_000001.10:g.84835882CA[9], NC_000001.10:g.84835882CA[11], NC_000001.10:g.84835882CA[12], NC_000001.10:g.84835882CA[13], NC_000001.10:g.84835882CA[14], NC_000001.10:g.84835882CA[15], NC_000001.10:g.84835882CA[16], NC_000001.10:g.84835882CA[17], NC_000001.10:g.84835882CA[18], NC_000001.10:g.84835882CA[19], NC_000001.10:g.84835882CA[20], NC_000001.10:g.84835882CA[21], NC_000001.10:g.84835882CA[22], NC_000001.10:g.84835882CA[23], NC_000001.10:g.84835882CA[24], NC_000001.10:g.84835882CA[26], NC_000001.10:g.84835882CA[27], NC_000001.10:g.84835882CA[28], NC_000001.10:g.84835882CA[29], NC_000001.10:g.84835882CA[30], NC_000001.10:g.84835882CA[31]
3.
rs1490859715 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:84373710
(GRCh38)
1:84839393
(GRCh37)
- Canonical SPDI:
- NC_000001.11:84373709:T:C
- Gene:
- UOX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000026/7
(TOPMED)
C=0.0001/14
(GnomAD)
- HGVS:
4.
rs1490497220 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:84382122
(GRCh38)
1:84847805
(GRCh37)
- Canonical SPDI:
- NC_000001.11:84382121:C:G
- Gene:
- UOX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
5.
rs1490491668 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:84380878
(GRCh38)
1:84846561
(GRCh37)
- Canonical SPDI:
- NC_000001.11:84380877:A:G
- Gene:
- UOX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490441447 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:84382018
(GRCh38)
1:84847701
(GRCh37)
- Canonical SPDI:
- NC_000001.11:84382017:C:T
- Gene:
- UOX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
7.
rs1490124613 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:84371994
(GRCh38)
1:84837677
(GRCh37)
- Canonical SPDI:
- NC_000001.11:84371993:G:A
- Gene:
- UOX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
8.
rs1490094802 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 1:84377730
(GRCh38)
1:84843413
(GRCh37)
- Canonical SPDI:
- NC_000001.11:84377729:A:G,NC_000001.11:84377729:A:T
- Gene:
- UOX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
9.
rs1490038965 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:84374992
(GRCh38)
1:84840675
(GRCh37)
- Canonical SPDI:
- NC_000001.11:84374991:C:T
- Gene:
- UOX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000021/3
(GnomAD)
T=0.000142/2
(TOMMO)
- HGVS:
10.
rs1489790710 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:84381397
(GRCh38)
1:84847080
(GRCh37)
- Canonical SPDI:
- NC_000001.11:84381396:T:C
- Gene:
- UOX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
11.
rs1489480085 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:84370237
(GRCh38)
1:84835920
(GRCh37)
- Canonical SPDI:
- NC_000001.11:84370236:C:T
- Gene:
- UOX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000009/1
(GnomAD)
T=0.013023/38
(KOREAN)
C=0.5/1
(SGDP_PRJ)
- HGVS:
12.
rs1489474098 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:84374789
(GRCh38)
1:84840472
(GRCh37)
- Canonical SPDI:
- NC_000001.11:84374788:A:T
- Gene:
- UOX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
13.
rs1489377469 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 1:84384557
(GRCh38)
1:84850240
(GRCh37)
- Canonical SPDI:
- NC_000001.11:84384556:T:A
- Gene:
- UOX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1489019023 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:84370496
(GRCh38)
1:84836179
(GRCh37)
- Canonical SPDI:
- NC_000001.11:84370495:G:A
- Gene:
- UOX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
15.
rs1489000393 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:84370102
(GRCh38)
1:84835785
(GRCh37)
- Canonical SPDI:
- NC_000001.11:84370101:C:T
- Gene:
- UOX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000023/6
(TOPMED)
T=0.000043/6
(GnomAD)
- HGVS:
16.
rs1488875449 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:84379718
(GRCh38)
1:84845401
(GRCh37)
- Canonical SPDI:
- NC_000001.11:84379717:A:G
- Gene:
- UOX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
17.
rs1488643301 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:84384095
(GRCh38)
1:84849778
(GRCh37)
- Canonical SPDI:
- NC_000001.11:84384094:A:C
- Gene:
- UOX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
18.
rs1488629600 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:84375948
(GRCh38)
1:84841631
(GRCh37)
- Canonical SPDI:
- NC_000001.11:84375947:G:C
- Gene:
- UOX (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:
19.
rs1488581192 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:84369030
(GRCh38)
1:84834713
(GRCh37)
- Canonical SPDI:
- NC_000001.11:84369029:T:C
- Gene:
- UOX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
20.
rs1487961065 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:84366822
(GRCh38)
1:84832505
(GRCh37)
- Canonical SPDI:
- NC_000001.11:84366821:T:C
- Gene:
- UOX (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: