Links from Gene
Items: 1 to 20 of 1387
1.
rs1490018929 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:42762552
(GRCh38)
2:42989692
(GRCh37)
- Canonical SPDI:
- NC_000002.12:42762551:G:A
- Gene:
- OXER1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0./0
(GnomAD)
A=0.000004/1
(TOPMED)
- HGVS:
2.
rs1489369185 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 2:42764419
(GRCh38)
2:42991559
(GRCh37)
- Canonical SPDI:
- NC_000002.12:42764418:C:A,NC_000002.12:42764418:C:T
- Gene:
- OXER1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000023/6
(TOPMED)
A=0.000035/1
(TOMMO)
- HGVS:
3.
rs1488754759 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:42762148
(GRCh38)
2:42989288
(GRCh37)
- Canonical SPDI:
- NC_000002.12:42762147:T:C
- Gene:
- OXER1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
4.
rs1487038195 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 2:42764020
(GRCh38)
2:42991160
(GRCh37)
- Canonical SPDI:
- NC_000002.12:42764019:A:T
- Gene:
- OXER1 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
5.
rs1487008507 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 2:42763206
(GRCh38)
2:42990346
(GRCh37)
- Canonical SPDI:
- NC_000002.12:42763205:G:T
- Gene:
- OXER1 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000008/2
(GnomAD_exomes)
- HGVS:
6.
rs1486529326 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:42765785
(GRCh38)
2:42992925
(GRCh37)
- Canonical SPDI:
- NC_000002.12:42765784:G:A
- Gene:
- OXER1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
7.
rs1486027741 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:42763424
(GRCh38)
2:42990564
(GRCh37)
- Canonical SPDI:
- NC_000002.12:42763423:C:T
- Gene:
- OXER1 (Varview)
- Functional Consequence:
- stop_gained,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000005/1
(GnomAD_exomes)
- HGVS:
8.
rs1484889922 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:42763714
(GRCh38)
2:42990854
(GRCh37)
- Canonical SPDI:
- NC_000002.12:42763713:C:T
- Gene:
- OXER1 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
9.
rs1484792137 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:42765168
(GRCh38)
2:42992308
(GRCh37)
- Canonical SPDI:
- NC_000002.12:42765167:C:T
- Gene:
- OXER1 (Varview)
- Functional Consequence:
- 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)
- HGVS:
10.
rs1483938004 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:42764727
(GRCh38)
2:42991867
(GRCh37)
- Canonical SPDI:
- NC_000002.12:42764726:G:A
- Gene:
- OXER1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000035/1
(TOMMO)
- HGVS:
11.
rs1483478694 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 2:42766140
(GRCh38)
2:42993280
(GRCh37)
- Canonical SPDI:
- NC_000002.12:42766139:C:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
12.
rs1483049214 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 2:42762876
(GRCh38)
2:42990016
(GRCh37)
- Canonical SPDI:
- NC_000002.12:42762875:C:A,NC_000002.12:42762875:C:T
- Gene:
- OXER1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
A=0.000009/2
(GnomAD_exomes)
- HGVS:
13.
rs1483019728 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:42763376
(GRCh38)
2:42990516
(GRCh37)
- Canonical SPDI:
- NC_000002.12:42763375:G:A
- Gene:
- OXER1 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000111/1
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
- HGVS:
14.
rs1482931921 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 2:42766151
(GRCh38)
2:42993291
(GRCh37)
- Canonical SPDI:
- NC_000002.12:42766150:T:G
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
15.
rs1482829449 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:42765684
(GRCh38)
2:42992824
(GRCh37)
- Canonical SPDI:
- NC_000002.12:42765683:A:C
- Gene:
- OXER1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1480309181 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:42762930
(GRCh38)
2:42990070
(GRCh37)
- Canonical SPDI:
- NC_000002.12:42762929:T:C
- Gene:
- OXER1 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
17.
rs1479968885 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 2:42764651
(GRCh38)
2:42991791
(GRCh37)
- Canonical SPDI:
- NC_000002.12:42764650:G:T
- Gene:
- OXER1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
18.
rs1479746040 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 2:42763863
(GRCh38)
2:42991003
(GRCh37)
- Canonical SPDI:
- NC_000002.12:42763862:C:A
- Gene:
- OXER1 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
A=0.000008/2
(GnomAD_exomes)
- HGVS:
19.
rs1479357584 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA
[Show Flanks]
- Chromosome:
- 2:42765521
(GRCh38)
2:42992661
(GRCh37)
- Canonical SPDI:
- NC_000002.12:42765520:AAAAAAA:AAAAAA,NC_000002.12:42765520:AAAAAAA:AAAAAAAA
- Gene:
- OXER1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
20.
rs1477031794 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 2:42766098
(GRCh38)
2:42993238
(GRCh37)
- Canonical SPDI:
- NC_000002.12:42766097:G:T
- Gene:
- OXER1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS: