Links from Gene
Items: 1 to 20 of 1392
2.
rs1490006256 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 11:58623855
(GRCh38)
11:58391329
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58623855:TTT:TTTT
- Gene:
- CNTF (Varview), ZFP91-CNTF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTT=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000156/1
(1000Genomes)
T=0.004762/1
(Vietnamese)
- HGVS:
3.
rs1489445674 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:58620916
(GRCh38)
11:58388389
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58620915:G:A
- Gene:
- CNTF (Varview), ZFP91 (Varview), ZFP91-CNTF (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,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:
4.
rs1488979340 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 11:58621178
(GRCh38)
11:58388651
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58621177:G:A,NC_000011.10:58621177:G:C,NC_000011.10:58621177:G:T
- Gene:
- CNTF (Varview), ZFP91 (Varview), ZFP91-CNTF (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,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=0.000008/2
(TOPMED)
- HGVS:
NC_000011.10:g.58621178G>A, NC_000011.10:g.58621178G>C, NC_000011.10:g.58621178G>T, NC_000011.9:g.58388651G>A, NC_000011.9:g.58388651G>C, NC_000011.9:g.58388651G>T, NG_008776.2:g.3506G>A, NG_008776.2:g.3506G>C, NG_008776.2:g.3506G>T, NM_053023.5:c.*3472G>A, NM_053023.5:c.*3472G>C, NM_053023.5:c.*3472G>T, NM_053023.4:c.*3472G>A, NM_053023.4:c.*3472G>C, NM_053023.4:c.*3472G>T, NM_001197051.2:c.*3472G>A, NM_001197051.2:c.*3472G>C, NM_001197051.2:c.*3472G>T, NM_001197051.1:c.*3472G>A, NM_001197051.1:c.*3472G>C, NM_001197051.1:c.*3472G>T
5.
rs1487740341 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:58625660
(GRCh38)
11:58393133
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58625659:G:A
- Gene:
- CNTF (Varview), ZFP91-CNTF (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000049/13
(TOPMED)
- HGVS:
6.
rs1487337622 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:58621926
(GRCh38)
11:58389399
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58621925:T:C
- Gene:
- CNTF (Varview), ZFP91 (Varview), ZFP91-CNTF (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
7.
rs1487123436 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 11:58622155
(GRCh38)
11:58389628
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58622154:T:G
- Gene:
- CNTF (Varview), ZFP91-CNTF (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.
rs1486335726 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:58622012
(GRCh38)
11:58389485
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58622011:A:G
- Gene:
- CNTF (Varview), ZFP91 (Varview), ZFP91-CNTF (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
9.
rs1485725906 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:58621156
(GRCh38)
11:58388629
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58621155:G:A
- Gene:
- CNTF (Varview), ZFP91 (Varview), ZFP91-CNTF (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,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:
10.
rs1485551831 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:58620831
(GRCh38)
11:58388304
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58620830:A:G
- Gene:
- CNTF (Varview), ZFP91 (Varview), ZFP91-CNTF (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
11.
rs1485506060 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 11:58624948
(GRCh38)
11:58392421
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58624947:T:C,NC_000011.10:58624947:T:G
- Gene:
- CNTF (Varview), ZFP91-CNTF (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000023/6
(TOPMED)
- HGVS:
NC_000011.10:g.58624948T>C, NC_000011.10:g.58624948T>G, NC_000011.9:g.58392421T>C, NC_000011.9:g.58392421T>G, NG_008776.2:g.7276T>C, NG_008776.2:g.7276T>G, NM_000614.4:c.*426T>C, NM_000614.4:c.*426T>G, NM_000614.3:c.*426T>C, NM_000614.3:c.*426T>G, NM_170768.2:c.*1001T>C, NM_170768.2:c.*1001T>G, NR_024091.1:n.2759T>C, NR_024091.1:n.2759T>G, NM_170768.1:c.*1001T>C, NM_170768.1:c.*1001T>G
12.
rs1485457616 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 11:58624948
(GRCh38)
11:58392421
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58624946:TTT:T
- Gene:
- CNTF (Varview), ZFP91-CNTF (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
13.
rs1485355897 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:58622922
(GRCh38)
11:58390395
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58622921:A:G
- Gene:
- CNTF (Varview), ZFP91-CNTF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000026/7
(TOPMED)
G=0.000057/8
(GnomAD)
- HGVS:
14.
rs1484840639 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 11:58624698
(GRCh38)
11:58392171
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58624697:G:T
- Gene:
- CNTF (Varview), ZFP91-CNTF (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000142/2
(
ALFA)
T=0.000029/4
(GnomAD)
T=0.000038/10
(TOPMED)
- HGVS:
15.
rs1484746949 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:58620733
(GRCh38)
11:58388206
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58620732:A:G
- Gene:
- CNTF (Varview), ZFP91 (Varview), ZFP91-CNTF (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
16.
rs1484695637 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 11:58621665
(GRCh38)
11:58389138
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58621664:CCC:CC
- Gene:
- CNTF (Varview), ZFP91 (Varview), ZFP91-CNTF (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
17.
rs1484452895 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 11:58626092
(GRCh38)
11:58393565
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58626091:T:G
- Gene:
- CNTF (Varview), ZFP91-CNTF (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1484005528 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:58623303
(GRCh38)
11:58390776
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58623302:A:G
- Gene:
- CNTF (Varview), ZFP91-CNTF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000023/6
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
19.
rs1483757070 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 11:58624048
(GRCh38)
11:58391521
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58624047:C:A
- Gene:
- CNTF (Varview), ZFP91-CNTF (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000084/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
20.
rs1483013010 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:58623965
(GRCh38)
11:58391438
(GRCh37)
- Canonical SPDI:
- NC_000011.10:58623964:A:G
- Gene:
- CNTF (Varview), ZFP91-CNTF (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: