Links from Gene
Items: 1 to 20 of 1130
2.
rs1491088578 has merged into rs113928658 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATATATATA>-,TATATATA,TATATATATATA,TATATATATATACGTGTATATATATACGTATATATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATATATATA
[Show Flanks]
- Chromosome:
- 6:132588458
(GRCh38)
6:132909597
(GRCh37)
- Canonical SPDI:
- NC_000006.12:132588453:TATATATATATATA:TATA,NC_000006.12:132588453:TATATATATATATA:TATATATATATA,NC_000006.12:132588453:TATATATATATATA:TATATATATATATATA,NC_000006.12:132588453:TATATATATATATA:TATATATATATATATACGTGTATATATATACGTATATATATATATATA,NC_000006.12:132588453:TATATATATATATA:TATATATATATATATATA,NC_000006.12:132588453:TATATATATATATA:TATATATATATATATATATA,NC_000006.12:132588453:TATATATATATATA:TATATATATATATATATATATATATATA
- Gene:
- TAAR5 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATATA=0./0
(
ALFA)
TA=0.18271/915
(1000Genomes)
TA=0.18833/113
(NorthernSweden)
- HGVS:
NC_000006.12:g.132588454TA[2], NC_000006.12:g.132588454TA[6], NC_000006.12:g.132588454TA[8], NC_000006.12:g.132588454_132588467TA[8]CGTGTATATATATACGTATATATATATATATA[1], NC_000006.12:g.132588454TA[9], NC_000006.12:g.132588454TA[10], NC_000006.12:g.132588454TA[14], NC_000006.11:g.132909593TA[2], NC_000006.11:g.132909593TA[6], NC_000006.11:g.132909593TA[8], NC_000006.11:g.132909593_132909606TA[8]CGTGTATATATATACGTATATATATATATATA[1], NC_000006.11:g.132909593TA[9], NC_000006.11:g.132909593TA[10], NC_000006.11:g.132909593TA[14]
3.
rs1490440493 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:132590897
(GRCh38)
6:132912036
(GRCh37)
- Canonical SPDI:
- NC_000006.12:132590896:C:T
- Gene:
- TAAR5 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
4.
rs1489997070 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTGTTTA
[Show Flanks]
- Chromosome:
- 6:132590364
(GRCh38)
6:132911504
(GRCh37)
- Canonical SPDI:
- NC_000006.12:132590364:AGTGTTTA:AGTGTTTAGTGTTTA
- Gene:
- TAAR5 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AGTGTTTAGTGTTTA=0./0
(
ALFA)
AGTGTTT=0.000004/1
(TOPMED)
- HGVS:
5.
rs1489574031 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 6:132591324
(GRCh38)
6:132912463
(GRCh37)
- Canonical SPDI:
- NC_000006.12:132591323:A:T
- Gene:
- TAAR5 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000026/7
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
6.
rs1488975551 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:132588199
(GRCh38)
6:132909338
(GRCh37)
- Canonical SPDI:
- NC_000006.12:132588198:C:T
- Gene:
- TAAR5 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000022/3
(GnomAD)
- HGVS:
7.
rs1488945026 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:132588404
(GRCh38)
6:132909543
(GRCh37)
- Canonical SPDI:
- NC_000006.12:132588403:G:A
- Gene:
- TAAR5 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
8.
rs1488914341 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 6:132588820
(GRCh38)
6:132909959
(GRCh37)
- Canonical SPDI:
- NC_000006.12:132588819:G:A,NC_000006.12:132588819:G:C
- Gene:
- TAAR5 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.00004/1
(TOMMO)
- HGVS:
NC_000006.12:g.132588820G>A, NC_000006.12:g.132588820G>C, NC_000006.11:g.132909959G>A, NC_000006.11:g.132909959G>C, NM_003967.3:c.867C>T, NM_003967.3:c.867C>G, NM_003967.2:c.867C>T, NM_003967.2:c.867C>G, NM_001389527.1:c.867C>T, NM_001389527.1:c.867C>G, NP_003958.2:p.Ile289Met, NP_001376456.1:p.Ile289Met
10.
rs1488029587 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:132588415
(GRCh38)
6:132909554
(GRCh37)
- Canonical SPDI:
- NC_000006.12:132588414:G:A
- Gene:
- TAAR5 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
11.
rs1487242028 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 6:132588892
(GRCh38)
6:132910031
(GRCh37)
- Canonical SPDI:
- NC_000006.12:132588891:C:G
- Gene:
- TAAR5 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
12.
rs1486752714 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 6:132589516
(GRCh38)
6:132910655
(GRCh37)
- Canonical SPDI:
- NC_000006.12:132589515:A:T
- Gene:
- TAAR5 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00003/8
(TOPMED)
T=0.00005/7
(GnomAD)
- HGVS:
14.
rs1484544965 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 6:132590391
(GRCh38)
6:132911530
(GRCh37)
- Canonical SPDI:
- NC_000006.12:132590390:T:A
- Gene:
- TAAR5 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
15.
rs1484492568 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:132588337
(GRCh38)
6:132909476
(GRCh37)
- Canonical SPDI:
- NC_000006.12:132588336:T:C
- Gene:
- TAAR5 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000026/7
(TOPMED)
- HGVS:
16.
rs1484328212 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 6:132588772
(GRCh38)
6:132909911
(GRCh37)
- Canonical SPDI:
- NC_000006.12:132588771:A:C,NC_000006.12:132588771:A:G
- Gene:
- TAAR5 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant,stop_gained
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
G=0.000007/1
(GnomAD)
G=0.000071/1
(TOMMO)
- HGVS:
NC_000006.12:g.132588772A>C, NC_000006.12:g.132588772A>G, NC_000006.11:g.132909911A>C, NC_000006.11:g.132909911A>G, NM_003967.3:c.915T>G, NM_003967.3:c.915T>C, NM_003967.2:c.915T>G, NM_003967.2:c.915T>C, NM_001389527.1:c.915T>G, NM_001389527.1:c.915T>C, NP_003958.2:p.Tyr305Ter, NP_001376456.1:p.Tyr305Ter
17.
rs1484318365 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 6:132589393
(GRCh38)
6:132910532
(GRCh37)
- Canonical SPDI:
- NC_000006.12:132589392:G:C,NC_000006.12:132589392:G:T
- Gene:
- TAAR5 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
T=0.000004/1
(TOPMED)
- HGVS:
NC_000006.12:g.132589393G>C, NC_000006.12:g.132589393G>T, NC_000006.11:g.132910532G>C, NC_000006.11:g.132910532G>T, NM_003967.3:c.294C>G, NM_003967.3:c.294C>A, NM_003967.2:c.294C>G, NM_003967.2:c.294C>A, NM_001389527.1:c.294C>G, NM_001389527.1:c.294C>A, NP_003958.2:p.Ser98Arg, NP_003958.2:p.Ser98Arg, NP_001376456.1:p.Ser98Arg, NP_001376456.1:p.Ser98Arg
18.
rs1484078066 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:132588483
(GRCh38)
6:132909622
(GRCh37)
- Canonical SPDI:
- NC_000006.12:132588482:A:G
- Gene:
- TAAR5 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.5/1
(SGDP_PRJ)
- HGVS:
19.
rs1483955486 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:132591147
(GRCh38)
6:132912286
(GRCh37)
- Canonical SPDI:
- NC_000006.12:132591146:G:A
- Gene:
- TAAR5 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1483951935 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 6:132591123
(GRCh38)
6:132912262
(GRCh37)
- Canonical SPDI:
- NC_000006.12:132591122:A:G,NC_000006.12:132591122:A:T
- Gene:
- TAAR5 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS: