Links from Gene
Items: 1 to 20 of 1118
1.
rs1491552293 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GAA
[Show Flanks]
- Chromosome:
- 17:3399298
(GRCh38)
17:3302593
(GRCh37)
- Canonical SPDI:
- NC_000017.11:3399298:AAGAA:AAGAAGAA
- Gene:
- OR1E1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAGAAGAA=0.000084/1
(
ALFA)
AAG=0.00382/415
(GnomAD)
- HGVS:
2.
rs1491488900 has merged into rs1376888843 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA
[Show Flanks]
- Chromosome:
- 17:3399299
(GRCh38)
17:3302593
(GRCh37)
- Canonical SPDI:
- NC_000017.11:3399297:AAA:A,NC_000017.11:3399297:AAA:AA,NC_000017.11:3399297:AAA:AAAA,NC_000017.11:3399297:AAA:AAAAA
- Gene:
- OR1E1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAA=0./0
(
ALFA)
-=0.0006/9
(TOMMO)
-=0.00119/2
(Korea1K)
-=0.00168/1
(NorthernSweden)
- HGVS:
3.
rs1491356141 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAAA,AACAAA
[Show Flanks]
- Chromosome:
- 17:3399295
(GRCh38)
17:3302589
(GRCh37)
- Canonical SPDI:
- NC_000017.11:3399293:AAA:A,NC_000017.11:3399293:AAA:AA,NC_000017.11:3399293:AAA:AAAAA,NC_000017.11:3399293:AAA:AAACAAA
- Gene:
- OR1E1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.0001/6
(GnomAD)
- HGVS:
4.
rs1491330495 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-,GAGA
[Show Flanks]
- Chromosome:
- 17:3399275
(GRCh38)
17:3302569
(GRCh37)
- Canonical SPDI:
- NC_000017.11:3399273:AGA:A,NC_000017.11:3399273:AGA:AGAGA
- Gene:
- OR1E1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00017/2
(
ALFA)
AG=0.00064/13
(TOMMO)
-=0.00217/105
(GnomAD)
- HGVS:
5.
rs1491320728 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GAAAGAA
[Show Flanks]
- Chromosome:
- 17:3399294
(GRCh38)
17:3302589
(GRCh37)
- Canonical SPDI:
- NC_000017.11:3399294:AAGAAAGAA:AAGAAAGAAGAAAGAA
- Gene:
- OR1E1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AAGAAAGAAGAAAGAA=0.00017/2
(
ALFA)
- HGVS:
6.
rs1491205035 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->AG,AGGAAAG,AGGAAAGGAAAG
[Show Flanks]
- Chromosome:
- 17:3399274
(GRCh38)
17:3302569
(GRCh37)
- Canonical SPDI:
- NC_000017.11:3399274::AG,NC_000017.11:3399274::AGGAAAG,NC_000017.11:3399274::AGGAAAGGAAAG
- Gene:
- OR1E1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGGAAAG=0./0
(
ALFA)
AG=0.03378/20
(NorthernSweden)
- HGVS:
7.
rs1491068096 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AGAAA
[Show Flanks]
- Chromosome:
- 17:3399293
(GRCh38)
17:3302588
(GRCh37)
- Canonical SPDI:
- NC_000017.11:3399293:AAAGAAA:AAAGAAAAGAAA
- Gene:
- OR1E1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AAAGAAAAGAAA=0./0
(
ALFA)
AAAGA=0.00007/4
(GnomAD)
- HGVS:
8.
rs1491041513 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AGAAAGA
[Show Flanks]
- Chromosome:
- 17:3399330
(GRCh38)
17:3302625
(GRCh37)
- Canonical SPDI:
- NC_000017.11:3399330:AAGAAAGA:AAGAAAGAAGAAAGA
- Gene:
- OR1E1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AAGAAAGAAGAAAGA=0./0
(
ALFA)
- HGVS:
9.
rs1490539267 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:3399874
(GRCh38)
17:3303168
(GRCh37)
- Canonical SPDI:
- NC_000017.11:3399873:A:G
- Gene:
- OR1E1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
10.
rs1489338046 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:3398369
(GRCh38)
17:3301663
(GRCh37)
- Canonical SPDI:
- NC_000017.11:3398368:G:A
- Gene:
- OR1E1 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
11.
rs1489328520 has merged into rs1214142819 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA>-,GGAA,GGAAGGAA,GGAAGGAAGGAA,GGAAGGAAGGAAGGAA,GGAAGGAAGGAAGGAAGGAA,GGAAGGAAGGAAGGAAGGAAGGAA,GGAAGGAAGGAAGGAAGGAAGGAAGGAA,GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA,GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA,GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA,GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA,GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA
[Show Flanks]
- Chromosome:
- 17:3399233
(GRCh38)
17:3302527
(GRCh37)
- Canonical SPDI:
- NC_000017.11:3399209:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA:GAAGGAAGGAAGGAAGGAAGGAA,NC_000017.11:3399209:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA:GAAGGAAGGAAGGAAGGAAGGAAGGAA,NC_000017.11:3399209:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA,NC_000017.11:3399209:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA,NC_000017.11:3399209:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA,NC_000017.11:3399209:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA,NC_000017.11:3399209:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA,NC_000017.11:3399209:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA,NC_000017.11:3399209:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA,NC_000017.11:3399209:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA,NC_000017.11:3399209:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA,NC_000017.11:3399209:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA,NC_000017.11:3399209:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA:GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA
- Gene:
- OR1E1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAAGGAAGGAAGGAAGGAAGGAAGGAA=0./0
(
ALFA)
- HGVS:
NC_000017.11:g.3399213GGAA[5], NC_000017.11:g.3399213GGAA[6], NC_000017.11:g.3399213GGAA[7], NC_000017.11:g.3399213GGAA[8], NC_000017.11:g.3399213GGAA[9], NC_000017.11:g.3399213GGAA[10], NC_000017.11:g.3399213GGAA[11], NC_000017.11:g.3399213GGAA[12], NC_000017.11:g.3399213GGAA[14], NC_000017.11:g.3399213GGAA[15], NC_000017.11:g.3399213GGAA[16], NC_000017.11:g.3399213GGAA[17], NC_000017.11:g.3399213GGAA[18], NC_000017.10:g.3302507GGAA[5], NC_000017.10:g.3302507GGAA[6], NC_000017.10:g.3302507GGAA[7], NC_000017.10:g.3302507GGAA[8], NC_000017.10:g.3302507GGAA[9], NC_000017.10:g.3302507GGAA[10], NC_000017.10:g.3302507GGAA[11], NC_000017.10:g.3302507GGAA[12], NC_000017.10:g.3302507GGAA[14], NC_000017.10:g.3302507GGAA[15], NC_000017.10:g.3302507GGAA[16], NC_000017.10:g.3302507GGAA[17], NC_000017.10:g.3302507GGAA[18]
12.
rs1489037776 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 17:3399176
(GRCh38)
17:3302470
(GRCh37)
- Canonical SPDI:
- NC_000017.11:3399175:A:G,NC_000017.11:3399175:A:T
- Gene:
- OR1E1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
G=0.000031/1
(GnomAD)
- HGVS:
13.
rs1487859737 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:3399236
(GRCh38)
17:3302530
(GRCh37)
- Canonical SPDI:
- NC_000017.11:3399235:A:G
- Gene:
- OR1E1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.00001/1
(GnomAD)
- HGVS:
15.
rs1487199431 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 17:3398647
(GRCh38)
17:3301941
(GRCh37)
- Canonical SPDI:
- NC_000017.11:3398646:T:A
- Gene:
- OR1E1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
16.
rs1486487699 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 17:3399597
(GRCh38)
17:3302891
(GRCh37)
- Canonical SPDI:
- NC_000017.11:3399596:C:A
- Gene:
- OR1E1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
17.
rs1485766768 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:3398399
(GRCh38)
17:3301693
(GRCh37)
- Canonical SPDI:
- NC_000017.11:3398398:T:C
- Gene:
- OR1E1 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
18.
rs1485715153 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAA>-
[Show Flanks]
- Chromosome:
- 17:3399193
(GRCh38)
17:3302487
(GRCh37)
- Canonical SPDI:
- NC_000017.11:3399189:GAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAA:GAA
- Gene:
- OR1E1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GAA=0./0
(
ALFA)
-=0.00012/6
(GnomAD)
- HGVS: