Links from Gene
Items: 1 to 20 of 4967
1.
rs1491563658 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 11:5812495
(GRCh38)
11:5833726
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5812495::G
- Gene:
- OR52N2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
2.
rs1491199426 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 11:5812494
(GRCh38)
11:5833724
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5812493:CA:
- Gene:
- OR52N2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00059/7
(
ALFA)
-=0.00046/13
(TOMMO)
- HGVS:
3.
rs1491136267 has merged into rs57515736 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,A,AAA,AAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 11:5812502
(GRCh38)
11:5833732
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5812494:AAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000011.10:5812494:AAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000011.10:5812494:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:5812494:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:5812494:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:5812494:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:5812494:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:5812494:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:5812494:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:5812494:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:5812494:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:5812494:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:5812494:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:5812494:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:5812494:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:5812494:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:5812494:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- OR52N2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
-=0.4089/2048
(1000Genomes)
- HGVS:
NC_000011.10:g.5812502_5812512del, NC_000011.10:g.5812503_5812512del, NC_000011.10:g.5812505_5812512del, NC_000011.10:g.5812507_5812512del, NC_000011.10:g.5812510_5812512del, NC_000011.10:g.5812511_5812512del, NC_000011.10:g.5812512del, NC_000011.10:g.5812512dup, NC_000011.10:g.5812511_5812512dup, NC_000011.10:g.5812510_5812512dup, NC_000011.10:g.5812509_5812512dup, NC_000011.10:g.5812508_5812512dup, NC_000011.10:g.5812507_5812512dup, NC_000011.10:g.5812506_5812512dup, NC_000011.10:g.5812505_5812512dup, NC_000011.10:g.5812501_5812512dup, NC_000011.10:g.5812512_5812513insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.5833732_5833742del, NC_000011.9:g.5833733_5833742del, NC_000011.9:g.5833735_5833742del, NC_000011.9:g.5833737_5833742del, NC_000011.9:g.5833740_5833742del, NC_000011.9:g.5833741_5833742del, NC_000011.9:g.5833742del, NC_000011.9:g.5833742dup, NC_000011.9:g.5833741_5833742dup, NC_000011.9:g.5833740_5833742dup, NC_000011.9:g.5833739_5833742dup, NC_000011.9:g.5833738_5833742dup, NC_000011.9:g.5833737_5833742dup, NC_000011.9:g.5833736_5833742dup, NC_000011.9:g.5833735_5833742dup, NC_000011.9:g.5833731_5833742dup, NC_000011.9:g.5833742_5833743insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
4.
rs1491037962 has merged into rs71468070 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-,ATAT,ATATAT,ATATATAT
[Show Flanks]
- Chromosome:
- 11:5815945
(GRCh38)
11:5837175
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5815935:TATATATATAT:TATATATAT,NC_000011.10:5815935:TATATATATAT:TATATATATATAT,NC_000011.10:5815935:TATATATATAT:TATATATATATATAT,NC_000011.10:5815935:TATATATATAT:TATATATATATATATAT
- Gene:
- OR52N2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATATATAT=0./0
(
ALFA)
-=0.425/255
(NorthernSweden)
TA=0.45/18
(GENOME_DK)
-=0.4639/463
(GoNL)
- HGVS:
5.
rs1490964257 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 11:5812083
(GRCh38)
11:5833313
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5812082:G:T
- Gene:
- OR52N2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000193/27
(GnomAD)
T=0.000204/54
(TOPMED)
- HGVS:
6.
rs1490923407 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:5804829
(GRCh38)
11:5826059
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5804828:A:G
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
7.
rs1490854417 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:5819936
(GRCh38)
11:5841166
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5819935:G:A
- Gene:
- OR52N2 (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)
A=0.000342/1
(KOREAN)
A=0.000354/6
(TOMMO)
- HGVS:
8.
rs1489842589 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 11:5803399
(GRCh38)
11:5824629
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5803398:A:T
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
9.
rs1489819672 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:5810996
(GRCh38)
11:5832226
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5810995:A:G
- Gene:
- OR52N2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
10.
rs1489804499 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:5808924
(GRCh38)
11:5830154
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5808923:G:A
- Gene:
- OR52N2 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
11.
rs1489797653 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 11:5804342
(GRCh38)
11:5825572
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5804341:A:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
12.
rs1489669594 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATA>-
[Show Flanks]
- Chromosome:
- 11:5817988
(GRCh38)
11:5839218
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5817983:AATAATA:AATA
- Gene:
- OR52N2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AATA=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000023/6
(TOPMED)
- HGVS:
13.
rs1489506216 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 11:5805830
(GRCh38)
11:5827060
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5805829:A:C
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
14.
rs1489506203 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:5807776
(GRCh38)
11:5829006
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5807775:C:T
- Gene:
- OR52N2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
15.
rs1489441222 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 11:5814334
(GRCh38)
11:5835564
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5814333:G:C
- Gene:
- OR52N2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000017/2
(GnomAD)
- HGVS:
16.
rs1489319973 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 11:5820340
(GRCh38)
11:5841570
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5820339:C:G,NC_000011.10:5820339:C:T
- Gene:
- OR52N2 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000011.10:g.5820340C>G, NC_000011.10:g.5820340C>T, NC_000011.9:g.5841570C>G, NC_000011.9:g.5841570C>T, NM_001005174.3:c.5C>G, NM_001005174.3:c.5C>T, NM_001005174.2:c.5C>G, NM_001005174.2:c.5C>T, NM_001005174.1:c.5C>G, NM_001005174.1:c.5C>T, NP_001005174.1:p.Ser2Cys, NP_001005174.1:p.Ser2Phe
17.
rs1489290303 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:5814974
(GRCh38)
11:5836204
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5814973:G:A
- Gene:
- OR52N2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
18.
rs1489010926 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GT
[Show Flanks]
- Chromosome:
- 11:5815933
(GRCh38)
11:5837164
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5815933:TGT:TGTGT
- Gene:
- OR52N2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGT=0.000084/1
(
ALFA)
TG=0.000096/10
(GnomAD)
- HGVS:
19.
rs1488732158 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:5821855
(GRCh38)
11:5843085
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5821854:T:C
- Gene:
- OR52N2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000023/6
(TOPMED)
- HGVS:
20.
rs1488556192 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,AA
[Show Flanks]
- Chromosome:
- 11:5812493
(GRCh38)
11:5833724
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5812493::A,NC_000011.10:5812493::AA
- Gene:
- OR52N2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.00639/101
(TOMMO)
A=0.00678/56
(GnomAD)
- HGVS: