Links from Gene
Items: 1 to 20 of 1000
1.
rs1491516716 has merged into rs10638260 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TCTATCTATCTATCTATCTA>-,TCTA,TCTATCTA,TCTATCTATCTA,TCTATCTATCTATCTA,TCTATCTATCTATCTATCTATCTA,TCTATCTATCTATCTATCTATCTATCTA,TCTATCTATCTATCTATCTATCTATCTATCTA,TCTATCTATCTATCTATCTATCTATCTATCTATCTA
[Show Flanks]
- Chromosome:
- 19:15896257
(GRCh38)
19:16007067
(GRCh37)
- Canonical SPDI:
- NC_000019.10:15896233:CTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTA:CTATCTATCTATCTATCTATCTA,NC_000019.10:15896233:CTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTA:CTATCTATCTATCTATCTATCTATCTA,NC_000019.10:15896233:CTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTA:CTATCTATCTATCTATCTATCTATCTATCTA,NC_000019.10:15896233:CTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTA:CTATCTATCTATCTATCTATCTATCTATCTATCTA,NC_000019.10:15896233:CTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTA:CTATCTATCTATCTATCTATCTATCTATCTATCTATCTA,NC_000019.10:15896233:CTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTA:CTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTA,NC_000019.10:15896233:CTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTA:CTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTA,NC_000019.10:15896233:CTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTA:CTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTA,NC_000019.10:15896233:CTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTA:CTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTA
- Gene:
- CYP4F2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTATCTATCTATCTATCTATCTATCTA=0./0
(
ALFA)
-=0.3255/1630
(1000Genomes)
- HGVS:
NC_000019.10:g.15896237TCTA[5], NC_000019.10:g.15896237TCTA[6], NC_000019.10:g.15896237TCTA[7], NC_000019.10:g.15896237TCTA[8], NC_000019.10:g.15896237TCTA[9], NC_000019.10:g.15896237TCTA[11], NC_000019.10:g.15896237TCTA[12], NC_000019.10:g.15896237TCTA[13], NC_000019.10:g.15896237TCTA[14], NC_000019.9:g.16007047TCTA[5], NC_000019.9:g.16007047TCTA[6], NC_000019.9:g.16007047TCTA[7], NC_000019.9:g.16007047TCTA[8], NC_000019.9:g.16007047TCTA[9], NC_000019.9:g.16007047TCTA[11], NC_000019.9:g.16007047TCTA[12], NC_000019.9:g.16007047TCTA[13], NC_000019.9:g.16007047TCTA[14], NG_007971.2:g.6802ATAG[5], NG_007971.2:g.6802ATAG[6], NG_007971.2:g.6802ATAG[7], NG_007971.2:g.6802ATAG[8], NG_007971.2:g.6802ATAG[9], NG_007971.2:g.6802ATAG[11], NG_007971.2:g.6802ATAG[12], NG_007971.2:g.6802ATAG[13], NG_007971.2:g.6802ATAG[14]
2.
rs1490531330 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 19:15885357
(GRCh38)
19:15996167
(GRCh37)
- Canonical SPDI:
- NC_000019.10:15885356:T:C,NC_000019.10:15885356:T:G
- Gene:
- CYP4F2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000021/3
(GnomAD)
C=0.000076/20
(TOPMED)
C=0.000177/3
(TOMMO)
C=0.001092/2
(Korea1K)
C=0.001711/5
(KOREAN)
T=0.5/1
(SGDP_PRJ)
- HGVS:
3.
rs1490438468 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:15885113
(GRCh38)
19:15995923
(GRCh37)
- Canonical SPDI:
- NC_000019.10:15885112:C:T
- Gene:
- CYP4F2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000142/2
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
4.
rs1490190431 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 19:15891439
(GRCh38)
19:16002249
(GRCh37)
- Canonical SPDI:
- NC_000019.10:15891438:C:G
- Gene:
- CYP4F2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
5.
rs1490102246 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:15884021
(GRCh38)
19:15994831
(GRCh37)
- Canonical SPDI:
- NC_000019.10:15884020:C:T
- Gene:
- CYP4F2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000043/6
(GnomAD)
- HGVS:
7.
rs1489666706 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:15900119
(GRCh38)
19:16010929
(GRCh37)
- Canonical SPDI:
- NC_000019.10:15900118:A:G
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1489385427 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 19:15878292
(GRCh38)
19:15989102
(GRCh37)
- Canonical SPDI:
- NC_000019.10:15878291:T:A,NC_000019.10:15878291:T:C
- Gene:
- CYP4F2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000019.10:g.15878292T>A, NC_000019.10:g.15878292T>C, NC_000019.9:g.15989102T>A, NC_000019.9:g.15989102T>C, NG_007971.2:g.24783A>T, NG_007971.2:g.24783A>G, NM_001082.5:c.*479A>T, NM_001082.5:c.*479A>G, NM_001082.4:c.*479A>T, NM_001082.4:c.*479A>G, NM_001082.3:c.*479A>T, NM_001082.3:c.*479A>G
9.
rs1489371565 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 19:15889566
(GRCh38)
19:16000376
(GRCh37)
- Canonical SPDI:
- NC_000019.10:15889565:C:A,NC_000019.10:15889565:C:T
- Gene:
- CYP4F2 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000043/1
(
ALFA)
A=0.000008/2
(GnomAD_exomes)
- HGVS:
NC_000019.10:g.15889566C>A, NC_000019.10:g.15889566C>T, NC_000019.9:g.16000376C>A, NC_000019.9:g.16000376C>T, NG_007971.2:g.13509G>T, NG_007971.2:g.13509G>A, NM_001082.5:c.775G>T, NM_001082.5:c.775G>A, NM_001082.4:c.775G>T, NM_001082.4:c.775G>A, NM_001082.3:c.775G>T, NM_001082.3:c.775G>A, NP_001073.3:p.Ala259Ser, NP_001073.3:p.Ala259Thr
10.
rs1488894487 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:15892656
(GRCh38)
19:16003466
(GRCh37)
- Canonical SPDI:
- NC_000019.10:15892655:C:T
- Gene:
- CYP4F2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
11.
rs1488851453 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:15893701
(GRCh38)
19:16004511
(GRCh37)
- Canonical SPDI:
- NC_000019.10:15893700:C:T
- Gene:
- CYP4F2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1488848487 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 19:15899671
(GRCh38)
19:16010481
(GRCh37)
- Canonical SPDI:
- NC_000019.10:15899670:G:A,NC_000019.10:15899670:G:T
- Gene:
- CYP4F2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000142/2
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
13.
rs1488765668 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 19:15878393
(GRCh38)
19:15989203
(GRCh37)
- Canonical SPDI:
- NC_000019.10:15878392:T:A
- Gene:
- CYP4F2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000546/1
(Korea1K)
- HGVS:
14.
rs1488417001 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 19:15899996
(GRCh38)
19:16010806
(GRCh37)
- Canonical SPDI:
- NC_000019.10:15899995:C:A
- Gene:
- CYP4F2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
15.
rs1488410290 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 19:15897355
(GRCh38)
19:16008165
(GRCh37)
- Canonical SPDI:
- NC_000019.10:15897354:G:A,NC_000019.10:15897354:G:T
- Gene:
- CYP4F2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000052/7
(GnomAD)
A=0.000212/4
(TOMMO)
- HGVS:
16.
rs1488406685 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAA>-
[Show Flanks]
- Chromosome:
- 19:15877875
(GRCh38)
19:15988685
(GRCh37)
- Canonical SPDI:
- NC_000019.10:15877871:GAAGAA:GAA
- Gene:
- CYP4F2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAAGAA=0.000071/1
(
ALFA)
-=0.000019/5
(TOPMED)
-=0.000029/4
(GnomAD)
- HGVS:
17.
rs1488395302 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 19:15886232
(GRCh38)
19:15997042
(GRCh37)
- Canonical SPDI:
- NC_000019.10:15886231:G:T
- Gene:
- CYP4F2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
18.
rs1488266103 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 19:15889951
(GRCh38)
19:16000761
(GRCh37)
- Canonical SPDI:
- NC_000019.10:15889945:TCTCTCT:TCTCT
- Gene:
- CYP4F2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TCTCT=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
19.
rs1488133683 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:15887910
(GRCh38)
19:15998720
(GRCh37)
- Canonical SPDI:
- NC_000019.10:15887909:A:G
- Gene:
- CYP4F2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
20.
rs1487854081 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 19:15881738
(GRCh38)
19:15992548
(GRCh37)
- Canonical SPDI:
- NC_000019.10:15881737:G:T
- Gene:
- CYP4F2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS: