Links from Gene
Items: 1 to 20 of 1000
1.
rs1491067053 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 14:24243401
(GRCh38)
14:24712607
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24243398:AGAG:AG
- Gene:
- TINF2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
AGAG=0./0
(
ALFA)
-=0.000029/4
(GnomAD)
- HGVS:
2.
rs1490567522 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 14:24244159
(GRCh38)
14:24713365
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24244158:T:G
- Gene:
- TINF2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
3.
rs1489961191 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 14:24239187
(GRCh38)
14:24708393
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24239186:T:A
- Gene:
- TINF2 (Varview), GMPR2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,500B_downstream_variant,3_prime_UTR_variant,downstream_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:
NC_000014.9:g.24239187T>A, NG_054634.1:g.11771T>A, NM_016576.5:c.*409T>A, NM_016576.4:c.*409T>A, NM_016576.3:c.*409T>A, NM_001002000.3:c.*409T>A, NM_001002000.2:c.*409T>A, NM_001002000.1:c.*409T>A, NM_001002001.3:c.*409T>A, NM_001002001.2:c.*409T>A, NM_001002001.1:c.*409T>A, NM_001002002.3:c.*409T>A, NM_001002002.2:c.*409T>A, NM_001002002.1:c.*409T>A, NM_001283021.2:c.*409T>A, NM_001283021.1:c.*409T>A, NM_001283022.2:c.*409T>A, NM_001283022.1:c.*409T>A, NM_001351022.2:c.*409T>A, NM_001351022.1:c.*409T>A, NM_001351024.2:c.*409T>A, NM_001351024.1:c.*409T>A, NM_001351023.2:c.*409T>A, NM_001351023.1:c.*409T>A, NM_001351025.2:c.*409T>A, NM_001351025.1:c.*409T>A, NR_104265.2:n.1741T>A, NR_104265.1:n.1941T>A, NM_001351026.2:c.*409T>A, NM_001351026.1:c.*409T>A, NM_001283023.2:c.*409T>A, NM_001283023.1:c.*409T>A, NG_016650.1:g.8488A>T, NW_018654722.1:g.540165T>A, NC_000014.8:g.24708393T>A
4.
rs1489675424 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:24243556
(GRCh38)
14:24712762
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24243555:A:G
- Gene:
- TINF2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
5.
rs1489382991 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 14:24243290
(GRCh38)
14:24712496
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24243289:C:A,NC_000014.9:24243289:C:T
- Gene:
- TINF2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
6.
rs1489321711 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:24244168
(GRCh38)
14:24713374
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24244167:T:C
- Gene:
- TINF2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
7.
rs1488164141 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:24240959
(GRCh38)
14:24710165
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24240958:A:G
- Gene:
- TINF2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1488023738 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:24242204
(GRCh38)
14:24711410
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24242203:A:G
- Gene:
- TINF2 (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,synonymous_variant
- Clinical significance:
- likely-benign
- Validated:
- by frequency,by alfa
- MAF:
G=0.000111/1
(
ALFA)
G=0.000008/2
(GnomAD_exomes)
- HGVS:
NC_000014.9:g.24242204A>G, NG_016650.1:g.5471T>C, NM_012461.3:c.129T>C, NM_012461.2:c.129T>C, NM_001099274.3:c.129T>C, NM_001099274.2:c.129T>C, NM_001099274.1:c.129T>C, NM_001363668.2:c.129T>C, NM_001363668.1:c.129T>C, NW_018654722.1:g.543182A>G, NC_000014.8:g.24711410A>G, XM_011536642.3:c.129T>C, XM_011536642.2:c.129T>C, XM_011536642.1:c.129T>C
9.
rs1487745604 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:24243689
(GRCh38)
14:24712895
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24243688:C:A
- Gene:
- TINF2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
10.
rs1487684309 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:24244484
(GRCh38)
14:24713690
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24244483:G:A
- Gene:
- TINF2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
11.
rs1487295758 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTTGCTC>-
[Show Flanks]
- Chromosome:
- 14:24244474
(GRCh38)
14:24713680
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24244469:GCTCTGTTGCTC:GCTC
- Gene:
- TINF2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCTC=0.000071/1
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
12.
rs1487135462 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:24243606
(GRCh38)
14:24712812
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24243605:A:G
- Gene:
- TINF2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000224/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000223/1
(Estonian)
- HGVS:
14.
rs1486491948 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 14:24242207
(GRCh38)
14:24711413
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24242206:G:A,NC_000014.9:24242206:G:T
- Gene:
- TINF2 (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000031/1
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
A=0.000004/1
(TOPMED)
- HGVS:
NC_000014.9:g.24242207G>A, NC_000014.9:g.24242207G>T, NG_016650.1:g.5468C>T, NG_016650.1:g.5468C>A, NM_012461.3:c.126C>T, NM_012461.3:c.126C>A, NM_012461.2:c.126C>T, NM_012461.2:c.126C>A, NM_001099274.3:c.126C>T, NM_001099274.3:c.126C>A, NM_001099274.2:c.126C>T, NM_001099274.2:c.126C>A, NM_001099274.1:c.126C>T, NM_001099274.1:c.126C>A, NM_001363668.2:c.126C>T, NM_001363668.2:c.126C>A, NM_001363668.1:c.126C>T, NM_001363668.1:c.126C>A, NW_018654722.1:g.543185G>A, NW_018654722.1:g.543185G>T, NC_000014.8:g.24711413G>A, NC_000014.8:g.24711413G>T, XM_011536642.3:c.126C>T, XM_011536642.3:c.126C>A, XM_011536642.2:c.126C>T, XM_011536642.2:c.126C>A, XM_011536642.1:c.126C>T, XM_011536642.1:c.126C>A
15.
rs1486434513 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:24242056
(GRCh38)
14:24711262
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24242055:C:T
- Gene:
- TINF2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_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:
16.
rs1485970212 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:24242836
(GRCh38)
14:24712042
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24242835:C:T
- Gene:
- TINF2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
17.
rs1485130365 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 14:24242765
(GRCh38)
14:24711971
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24242760:CTCTCT:CTCT
- Gene:
- TINF2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTCT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000014/2
(GnomAD)
-=0.000312/2
(1000Genomes)
- HGVS:
19.
rs1484959667 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 14:24241608
(GRCh38)
14:24710814
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24241607:T:G
- Gene:
- TINF2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/1
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
20.
rs1484179503 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:24243825
(GRCh38)
14:24713031
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24243824:A:G
- Gene:
- TINF2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS: