Links from Gene
Items: 1 to 20 of 1172
1.
rs1490928528 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:3392655
(GRCh38)
11:3413885
(GRCh37)
- Canonical SPDI:
- NC_000011.10:3392654:G:A
- Gene:
- OR7E12P (Varview), TSSC2 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
2.
rs1489919426 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 11:3390458
(GRCh38)
11:3411688
(GRCh37)
- Canonical SPDI:
- NC_000011.10:3390457:T:G
- Gene:
- OR7E12P (Varview), TSSC2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
3.
rs1489125433 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 11:3391802
(GRCh38)
11:3413033
(GRCh37)
- Canonical SPDI:
- NC_000011.10:3391802:AAA:AAAA
- Gene:
- OR7E12P (Varview), TSSC2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAA=0.000051/1
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
A=0.000015/2
(GnomAD_exomes)
- HGVS:
4.
rs1488857484 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 11:3393694
(GRCh38)
11:3414924
(GRCh37)
- Canonical SPDI:
- NC_000011.10:3393693:G:T
- Gene:
- OR7E12P (Varview), TSSC2 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000084/1
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000019/5
(TOPMED)
- HGVS:
5.
rs1488633458 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:3391218
(GRCh38)
11:3412448
(GRCh37)
- Canonical SPDI:
- NC_000011.10:3391217:C:G
- Gene:
- OR7E12P (Varview), TSSC2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00135/22
(
ALFA)
G=0.00513/86
(TOMMO)
G=0.0089/57
(1000Genomes)
G=0.01129/33
(KOREAN)
G=0.01146/21
(Korea1K)
- HGVS:
6.
rs1487952591 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 11:3392371
(GRCh38)
11:3413601
(GRCh37)
- Canonical SPDI:
- NC_000011.10:3392370:T:C,NC_000011.10:3392370:T:G
- Gene:
- OR7E12P (Varview), TSSC2 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
C=0.000342/1
(KOREAN)
- HGVS:
7.
rs1487528425 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 11:3392043
(GRCh38)
11:3413273
(GRCh37)
- Canonical SPDI:
- NC_000011.10:3392042:T:G
- Gene:
- OR7E12P (Varview), TSSC2 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1487434125 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:3393150
(GRCh38)
11:3414380
(GRCh37)
- Canonical SPDI:
- NC_000011.10:3393149:A:G
- Gene:
- OR7E12P (Varview), TSSC2 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000224/1
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
9.
rs1486906220 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:3392862
(GRCh38)
11:3414092
(GRCh37)
- Canonical SPDI:
- NC_000011.10:3392861:A:G
- Gene:
- OR7E12P (Varview), TSSC2 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00845/138
(
ALFA)
G=0.01624/459
(TOMMO)
G=0.02498/160
(1000Genomes)
G=0.02806/82
(KOREAN)
- HGVS:
10.
rs1486802517 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:3391389
(GRCh38)
11:3412619
(GRCh37)
- Canonical SPDI:
- NC_000011.10:3391388:C:T
- Gene:
- OR7E12P (Varview), TSSC2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000012/2
(GnomAD_exomes)
T=0.000019/5
(TOPMED)
- HGVS:
12.
rs1485501173 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:3393076
(GRCh38)
11:3414306
(GRCh37)
- Canonical SPDI:
- NC_000011.10:3393075:C:T
- Gene:
- OR7E12P (Varview), TSSC2 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000035/1
(TOMMO)
- HGVS:
13.
rs1485427103 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:3390717
(GRCh38)
11:3411947
(GRCh37)
- Canonical SPDI:
- NC_000011.10:3390716:G:A
- Gene:
- OR7E12P (Varview), TSSC2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
14.
rs1485377797 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:3390946
(GRCh38)
11:3412176
(GRCh37)
- Canonical SPDI:
- NC_000011.10:3390945:A:G
- Gene:
- OR7E12P (Varview), TSSC2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
15.
rs1485105359 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGACGTGG>-
[Show Flanks]
- Chromosome:
- 11:3393507
(GRCh38)
11:3414737
(GRCh37)
- Canonical SPDI:
- NC_000011.10:3393505:GAGACGTGG:G
- Gene:
- OR7E12P (Varview), TSSC2 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
-=0.000007/1
(GnomAD)
- HGVS:
16.
rs1484185850 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 11:3391729
(GRCh38)
11:3412959
(GRCh37)
- Canonical SPDI:
- NC_000011.10:3391728:A:G,NC_000011.10:3391728:A:T
- Gene:
- OR7E12P (Varview), TSSC2 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1483401579 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:3392893
(GRCh38)
11:3414123
(GRCh37)
- Canonical SPDI:
- NC_000011.10:3392892:C:T
- Gene:
- OR7E12P (Varview), TSSC2 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
19.
rs1482910482 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:3393843
(GRCh38)
11:3415073
(GRCh37)
- Canonical SPDI:
- NC_000011.10:3393842:A:G
- Gene:
- OR7E12P (Varview), TSSC2 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS: