Links from Nucleotide
Items: 1 to 20 of 104
1.
rs1486339829 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:65789428
(GRCh38)
11:65556899
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65789427:G:A
- Gene:
- OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
2.
rs1464687245 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:65789282
(GRCh38)
11:65556753
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65789281:G:A
- Gene:
- OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000034/9
(TOPMED)
A=0.00005/7
(GnomAD)
- HGVS:
3.
rs1458390273 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:65789063
(GRCh38)
11:65556534
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65789062:G:A
- Gene:
- OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
4.
rs1456449214 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:65789246
(GRCh38)
11:65556717
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65789245:G:A
- Gene:
- OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
5.
rs1450073123 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:65789117
(GRCh38)
11:65556588
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65789116:A:G
- Gene:
- OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000021/3
(GnomAD)
- HGVS:
6.
rs1435370580 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 11:65789366
(GRCh38)
11:65556837
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65789365:G:T
- Gene:
- OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
7.
rs1420917143 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:65789131
(GRCh38)
11:65556602
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65789130:A:G
- Gene:
- OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
9.
rs1406734731 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:65789269
(GRCh38)
11:65556740
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65789268:C:T
- Gene:
- OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
10.
rs1400746139 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:65790815
(GRCh38)
11:65558286
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65790814:G:A
- Gene:
- OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
11.
rs1400411712 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:65789350
(GRCh38)
11:65556821
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65789349:C:T
- Gene:
- OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00004/1
(TOMMO)
- HGVS:
12.
rs1396988171 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGGCGGGAGT>-
[Show Flanks]
- Chromosome:
- 11:65789371
(GRCh38)
11:65556842
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65789368:GTGTGGCGGGAGT:GT
- Gene:
- OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GT=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
-=0.000036/5
(GnomAD)
- HGVS:
13.
rs1392553458 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 11:65789052
(GRCh38)
11:65556523
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65789051:A:T
- Gene:
- OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
14.
rs1387983644 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:65789060
(GRCh38)
11:65556531
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65789059:G:A
- Gene:
- OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
15.
rs1387272168 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:65789236
(GRCh38)
11:65556707
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65789235:A:G
- Gene:
- OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.00003/8
(TOPMED)
- HGVS:
16.
rs1384134317 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 11:65789350
(GRCh38)
11:65556822
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65789350:T:TT
- Gene:
- OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
17.
rs1373174460 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:65789241
(GRCh38)
11:65556712
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65789240:C:T
- Gene:
- OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_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.
rs1370682975 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:65790768
(GRCh38)
11:65558239
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65790767:C:T
- Gene:
- OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
19.
rs1366018498 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:65789242
(GRCh38)
11:65556713
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65789241:A:G
- Gene:
- OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
G=0.000495/8
(TOMMO)
G=0.000546/1
(Korea1K)
G=0.001027/3
(KOREAN)
- HGVS:
20.
rs1359061712 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 11:65790867
(GRCh38)
11:65558339
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65790867:GGG:GGGG
- Gene:
- OVOL1 (Varview), OVOL1-AS1 (Varview), LOC124902693 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGG=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS: