Links from Gene
Items: 1 to 20 of 2733
1.
rs1491411134 has merged into rs11443697 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 7:101319653
(GRCh38)
7:100962934
(GRCh37)
- Canonical SPDI:
- NC_000007.14:101319641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:101319641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:101319641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:101319641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:101319641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:101319641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:101319641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:101319641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101319641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101319641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101319641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101319641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101319641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101319641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- IFT22 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000007.14:g.101319653_101319661del, NC_000007.14:g.101319655_101319661del, NC_000007.14:g.101319656_101319661del, NC_000007.14:g.101319658_101319661del, NC_000007.14:g.101319659_101319661del, NC_000007.14:g.101319660_101319661del, NC_000007.14:g.101319661del, NC_000007.14:g.101319661dup, NC_000007.14:g.101319660_101319661dup, NC_000007.14:g.101319659_101319661dup, NC_000007.14:g.101319658_101319661dup, NC_000007.14:g.101319657_101319661dup, NC_000007.14:g.101319656_101319661dup, NC_000007.14:g.101319655_101319661dup, NC_000007.13:g.100962934_100962942del, NC_000007.13:g.100962936_100962942del, NC_000007.13:g.100962937_100962942del, NC_000007.13:g.100962939_100962942del, NC_000007.13:g.100962940_100962942del, NC_000007.13:g.100962941_100962942del, NC_000007.13:g.100962942del, NC_000007.13:g.100962942dup, NC_000007.13:g.100962941_100962942dup, NC_000007.13:g.100962940_100962942dup, NC_000007.13:g.100962939_100962942dup, NC_000007.13:g.100962938_100962942dup, NC_000007.13:g.100962937_100962942dup, NC_000007.13:g.100962936_100962942dup
2.
rs1491373165 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 7:101322937
(GRCh38)
7:100966218
(GRCh37)
- Canonical SPDI:
- NC_000007.14:101322934:TTTT:TT
- Gene:
- IFT22 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTT=0.000084/1
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
3.
rs1491332711 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TTTCCCATGCAC
[Show Flanks]
- Chromosome:
- 7:101322935
(GRCh38)
7:100966217
(GRCh37)
- Canonical SPDI:
- NC_000007.14:101322935:TTTCCCATGCAC:TTTCCCATGCACTTTCCCATGCAC
- Gene:
- IFT22 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTCCCATGCACTTTCCCATGCAC=0./0
(
ALFA)
TTTCCCATGCAC=0.000008/1
(GnomAD)
TTTCCCATGCAC=0.000019/5
(TOPMED)
- HGVS:
4.
rs1491139898 has merged into rs11443697 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 7:101319653
(GRCh38)
7:100962934
(GRCh37)
- Canonical SPDI:
- NC_000007.14:101319641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:101319641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:101319641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:101319641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:101319641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:101319641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:101319641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:101319641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101319641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101319641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101319641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101319641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101319641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101319641:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- IFT22 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000007.14:g.101319653_101319661del, NC_000007.14:g.101319655_101319661del, NC_000007.14:g.101319656_101319661del, NC_000007.14:g.101319658_101319661del, NC_000007.14:g.101319659_101319661del, NC_000007.14:g.101319660_101319661del, NC_000007.14:g.101319661del, NC_000007.14:g.101319661dup, NC_000007.14:g.101319660_101319661dup, NC_000007.14:g.101319659_101319661dup, NC_000007.14:g.101319658_101319661dup, NC_000007.14:g.101319657_101319661dup, NC_000007.14:g.101319656_101319661dup, NC_000007.14:g.101319655_101319661dup, NC_000007.13:g.100962934_100962942del, NC_000007.13:g.100962936_100962942del, NC_000007.13:g.100962937_100962942del, NC_000007.13:g.100962939_100962942del, NC_000007.13:g.100962940_100962942del, NC_000007.13:g.100962941_100962942del, NC_000007.13:g.100962942del, NC_000007.13:g.100962942dup, NC_000007.13:g.100962941_100962942dup, NC_000007.13:g.100962940_100962942dup, NC_000007.13:g.100962939_100962942dup, NC_000007.13:g.100962938_100962942dup, NC_000007.13:g.100962937_100962942dup, NC_000007.13:g.100962936_100962942dup
6.
rs1490519602 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:101317215
(GRCh38)
7:100960496
(GRCh37)
- Canonical SPDI:
- NC_000007.14:101317214:G:A
- Gene:
- IFT22 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0./0
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
7.
rs1490504677 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:101316201
(GRCh38)
7:100959482
(GRCh37)
- Canonical SPDI:
- NC_000007.14:101316200:A:G
- Gene:
- IFT22 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490340585 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAG>-
[Show Flanks]
- Chromosome:
- 7:101316714
(GRCh38)
7:100959995
(GRCh37)
- Canonical SPDI:
- NC_000007.14:101316711:AGGAG:AG
- Gene:
- IFT22 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AG=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
9.
rs1490170455 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:101317478
(GRCh38)
7:100960759
(GRCh37)
- Canonical SPDI:
- NC_000007.14:101317477:G:A
- Gene:
- IFT22 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000022/3
(GnomAD)
- HGVS:
10.
rs1489954575 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 7:101320538
(GRCh38)
7:100963819
(GRCh37)
- Canonical SPDI:
- NC_000007.14:101320537:C:A,NC_000007.14:101320537:C:G,NC_000007.14:101320537:C:T
- Gene:
- IFT22 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
T=0.000071/2
(TOMMO)
G=0.000551/1
(Korea1K)
- HGVS:
11.
rs1489609515 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 7:101317645
(GRCh38)
7:100960926
(GRCh37)
- Canonical SPDI:
- NC_000007.14:101317644:C:G
- Gene:
- IFT22 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
12.
rs1489531322 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:101321362
(GRCh38)
7:100964643
(GRCh37)
- Canonical SPDI:
- NC_000007.14:101321361:G:A
- Gene:
- IFT22 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
13.
rs1489506775 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:101322722
(GRCh38)
7:100966003
(GRCh37)
- Canonical SPDI:
- NC_000007.14:101322721:C:T
- Gene:
- IFT22 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
15.
rs1489147464 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:101321906
(GRCh38)
7:100965187
(GRCh37)
- Canonical SPDI:
- NC_000007.14:101321905:C:T
- Gene:
- IFT22 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
16.
rs1488672365 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:101321671
(GRCh38)
7:100964952
(GRCh37)
- Canonical SPDI:
- NC_000007.14:101321670:C:T
- Gene:
- IFT22 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
NC_000007.14:g.101321671C>T, NC_000007.13:g.100964952C>T, NM_022777.4:c.39G>A, NM_022777.3:c.39G>A, NM_022777.2:c.39G>A, NM_001130821.3:c.-224G>A, NM_001130821.2:c.-224G>A, NM_001130821.1:c.-224G>A, NM_001130822.3:c.-116G>A, NM_001130822.2:c.-116G>A, NM_001130822.1:c.-116G>A, NM_001130820.3:c.39G>A, NM_001130820.2:c.39G>A, NM_001130820.1:c.39G>A, NM_001287525.2:c.-266G>A, NM_001287525.1:c.-266G>A, NM_001287526.1:c.-26G>A
17.
rs1488548922 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 7:101314854
(GRCh38)
7:100958135
(GRCh37)
- Canonical SPDI:
- NC_000007.14:101314853:G:A,NC_000007.14:101314853:G:T
- Gene:
- IFT22 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
- HGVS:
NC_000007.14:g.101314854G>A, NC_000007.14:g.101314854G>T, NC_000007.13:g.100958135G>A, NC_000007.13:g.100958135G>T, NM_022777.4:c.*280C>T, NM_022777.4:c.*280C>A, NM_022777.3:c.*280C>T, NM_022777.3:c.*280C>A, NM_022777.2:c.*280C>T, NM_022777.2:c.*280C>A, NM_001130821.3:c.*280C>T, NM_001130821.3:c.*280C>A, NM_001130821.2:c.*280C>T, NM_001130821.2:c.*280C>A, NM_001130821.1:c.*280C>T, NM_001130821.1:c.*280C>A, NM_001130822.3:c.*280C>T, NM_001130822.3:c.*280C>A, NM_001130822.2:c.*280C>T, NM_001130822.2:c.*280C>A, NM_001130822.1:c.*280C>T, NM_001130822.1:c.*280C>A, NM_001130820.3:c.*280C>T, NM_001130820.3:c.*280C>A, NM_001130820.2:c.*280C>T, NM_001130820.2:c.*280C>A, NM_001130820.1:c.*280C>T, NM_001130820.1:c.*280C>A, NM_001287525.2:c.*280C>T, NM_001287525.2:c.*280C>A, NM_001287525.1:c.*280C>T, NM_001287525.1:c.*280C>A, NM_001287526.1:c.*280C>T, NM_001287526.1:c.*280C>A
19.
rs1487921774 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:101314201
(GRCh38)
7:100957482
(GRCh37)
- Canonical SPDI:
- NC_000007.14:101314200:A:G
- Gene:
- IFT22 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000016/2
(GnomAD)
G=0.001369/4
(KOREAN)
G=0.002017/34
(TOMMO)
- HGVS:
NC_000007.14:g.101314201A>G, NC_000007.13:g.100957482A>G, NM_022777.4:c.*933T>C, NM_022777.3:c.*933T>C, NM_022777.2:c.*933T>C, NM_001130821.3:c.*933T>C, NM_001130821.2:c.*933T>C, NM_001130821.1:c.*933T>C, NM_001130822.3:c.*933T>C, NM_001130822.2:c.*933T>C, NM_001130822.1:c.*933T>C, NM_001130820.3:c.*933T>C, NM_001130820.2:c.*933T>C, NM_001130820.1:c.*933T>C, NM_001287525.2:c.*933T>C, NM_001287525.1:c.*933T>C, NM_001287526.1:c.*933T>C
20.
rs1487903264 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:101313428
(GRCh38)
7:100956709
(GRCh37)
- Canonical SPDI:
- NC_000007.14:101313427:C:T
- Gene:
- IFT22 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000015/2
(GnomAD)
T=0.001026/17
(TOMMO)
T=0.001369/4
(KOREAN)
T=0.002729/5
(Korea1K)
- HGVS:
NC_000007.14:g.101313428C>T, NC_000007.13:g.100956709C>T, NM_022777.4:c.*1706G>A, NM_022777.3:c.*1706G>A, NM_022777.2:c.*1706G>A, NM_001130821.3:c.*1706G>A, NM_001130821.2:c.*1706G>A, NM_001130821.1:c.*1706G>A, NM_001130822.3:c.*1706G>A, NM_001130822.2:c.*1706G>A, NM_001130822.1:c.*1706G>A, NM_001130820.3:c.*1706G>A, NM_001130820.2:c.*1706G>A, NM_001130820.1:c.*1706G>A, NM_001287525.2:c.*1706G>A, NM_001287525.1:c.*1706G>A, NM_001287526.1:c.*1706G>A