Links from Gene
Items: 1 to 20 of 7637
1.
rs1491487909 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 14:70653731
(GRCh38)
14:71120448
(GRCh37)
- Canonical SPDI:
- NC_000014.9:70653730:AG:
- Gene:
- TTC9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.0156/58
(TWINSUK)
-=0.0163/63
(ALSPAC)
- HGVS:
2.
rs1491356374 has merged into rs57369399 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:70662423
(GRCh38)
14:71129140
(GRCh37)
- Canonical SPDI:
- NC_000014.9:70662413:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000014.9:70662413:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:70662413:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:70662413:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:70662413:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:70662413:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:70662413:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:70662413:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:70662413:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:70662413:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:70662413:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:70662413:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:70662413:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:70662413:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:70662413:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:70662413:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- TTC9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
-=0.4056/2031
(1000Genomes)
- HGVS:
NC_000014.9:g.70662423_70662433del, NC_000014.9:g.70662424_70662433del, NC_000014.9:g.70662425_70662433del, NC_000014.9:g.70662426_70662433del, NC_000014.9:g.70662427_70662433del, NC_000014.9:g.70662428_70662433del, NC_000014.9:g.70662429_70662433del, NC_000014.9:g.70662430_70662433del, NC_000014.9:g.70662431_70662433del, NC_000014.9:g.70662432_70662433del, NC_000014.9:g.70662433del, NC_000014.9:g.70662433dup, NC_000014.9:g.70662432_70662433dup, NC_000014.9:g.70662431_70662433dup, NC_000014.9:g.70662430_70662433dup, NC_000014.9:g.70662425_70662433dup, NC_000014.8:g.71129140_71129150del, NC_000014.8:g.71129141_71129150del, NC_000014.8:g.71129142_71129150del, NC_000014.8:g.71129143_71129150del, NC_000014.8:g.71129144_71129150del, NC_000014.8:g.71129145_71129150del, NC_000014.8:g.71129146_71129150del, NC_000014.8:g.71129147_71129150del, NC_000014.8:g.71129148_71129150del, NC_000014.8:g.71129149_71129150del, NC_000014.8:g.71129150del, NC_000014.8:g.71129150dup, NC_000014.8:g.71129149_71129150dup, NC_000014.8:g.71129148_71129150dup, NC_000014.8:g.71129147_71129150dup, NC_000014.8:g.71129142_71129150dup, NG_012648.2:g.25637_25647del, NG_012648.2:g.25638_25647del, NG_012648.2:g.25639_25647del, NG_012648.2:g.25640_25647del, NG_012648.2:g.25641_25647del, NG_012648.2:g.25642_25647del, NG_012648.2:g.25643_25647del, NG_012648.2:g.25644_25647del, NG_012648.2:g.25645_25647del, NG_012648.2:g.25646_25647del, NG_012648.2:g.25647del, NG_012648.2:g.25647dup, NG_012648.2:g.25646_25647dup, NG_012648.2:g.25645_25647dup, NG_012648.2:g.25644_25647dup, NG_012648.2:g.25639_25647dup
3.
rs1491325416 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 14:70662413
(GRCh38)
14:71129130
(GRCh37)
- Canonical SPDI:
- NC_000014.9:70662412:CA:
- Gene:
- TTC9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.0001/9
(GnomAD)
- HGVS:
4.
rs1491259142 has merged into rs35178781 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GC>-,GCGC,GCGCGC,GCGCGCGC
[Show Flanks]
- Chromosome:
- 14:70659132
(GRCh38)
14:71125849
(GRCh37)
- Canonical SPDI:
- NC_000014.9:70659130:CGC:C,NC_000014.9:70659130:CGC:CGCGC,NC_000014.9:70659130:CGC:CGCGCGC,NC_000014.9:70659130:CGC:CGCGCGCGC
- Gene:
- TTC9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CGCGCGC=0.00016/2
(
ALFA)
CG=0.00789/14
(Korea1K)
- HGVS:
NC_000014.9:g.70659132_70659133del, NC_000014.9:g.70659132_70659133dup, NC_000014.9:g.70659132GC[3], NC_000014.9:g.70659132GC[4], NC_000014.8:g.71125849_71125850del, NC_000014.8:g.71125849_71125850dup, NC_000014.8:g.71125849GC[3], NC_000014.8:g.71125849GC[4], NG_012648.2:g.22346_22347del, NG_012648.2:g.22346_22347dup, NG_012648.2:g.22346GC[3], NG_012648.2:g.22346GC[4]
5.
rs1491246365 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GCACACACAC,GCGCACACACAC,GCGCGCACACACAC,GCGCGCGCACACACAC,TCACACACAC
[Show Flanks]
- Chromosome:
- 14:70659120
(GRCh38)
14:71125838
(GRCh37)
- Canonical SPDI:
- NC_000014.9:70659120:CACACACAC:CACACACACGCACACACAC,NC_000014.9:70659120:CACACACAC:CACACACACGCGCACACACAC,NC_000014.9:70659120:CACACACAC:CACACACACGCGCGCACACACAC,NC_000014.9:70659120:CACACACAC:CACACACACGCGCGCGCACACACAC,NC_000014.9:70659120:CACACACAC:CACACACACTCACACACAC
- Gene:
- TTC9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACGCGCACACACAC=0./0
(
ALFA)
CACACACACG=0.10833/65
(NorthernSweden)
CACACACACG=0.125/5
(GENOME_DK)
- HGVS:
NC_000014.9:g.70659121_70659129CA[4]CGCACACACAC[1], NC_000014.9:g.70659121_70659129CA[4]CG[2]CA[4]C[1], NC_000014.9:g.70659121_70659129CA[4]CG[3]CA[4]C[1], NC_000014.9:g.70659121_70659129CA[4]CG[4]CA[4]C[1], NC_000014.9:g.70659121_70659129CA[4]CTCACACACAC[1], NC_000014.8:g.71125838_71125846CA[4]CGCACACACAC[1], NC_000014.8:g.71125838_71125846CA[4]CG[2]CA[4]C[1], NC_000014.8:g.71125838_71125846CA[4]CG[3]CA[4]C[1], NC_000014.8:g.71125838_71125846CA[4]CG[4]CA[4]C[1], NC_000014.8:g.71125838_71125846CA[4]CTCACACACAC[1], NG_012648.2:g.22335_22343CA[4]CGCACACACAC[1], NG_012648.2:g.22335_22343CA[4]CG[2]CA[4]C[1], NG_012648.2:g.22335_22343CA[4]CG[3]CA[4]C[1], NG_012648.2:g.22335_22343CA[4]CG[4]CA[4]C[1], NG_012648.2:g.22335_22343CA[4]CTCACACACAC[1]
6.
rs1491092734 has merged into rs201172906 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACAC>-,AC,ACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC
[Show Flanks]
- Chromosome:
- 14:70659126
(GRCh38)
14:71125843
(GRCh37)
- Canonical SPDI:
- NC_000014.9:70659119:ACACACACACAC:ACACAC,NC_000014.9:70659119:ACACACACACAC:ACACACAC,NC_000014.9:70659119:ACACACACACAC:ACACACACAC,NC_000014.9:70659119:ACACACACACAC:ACACACACACACAC,NC_000014.9:70659119:ACACACACACAC:ACACACACACACACAC,NC_000014.9:70659119:ACACACACACAC:ACACACACACACACACAC,NC_000014.9:70659119:ACACACACACAC:ACACACACACACACACACAC,NC_000014.9:70659119:ACACACACACAC:ACACACACACACACACACACAC,NC_000014.9:70659119:ACACACACACAC:ACACACACACACACACACACACAC
- Gene:
- TTC9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACAC=0./0
(
ALFA)
-=0.01333/8
(NorthernSweden)
-=0.15/6
(GENOME_DK)
-=0.1976/362
(Korea1K)
-=0.19865/3328
(TOMMO)
- HGVS:
NC_000014.9:g.70659120AC[3], NC_000014.9:g.70659120AC[4], NC_000014.9:g.70659120AC[5], NC_000014.9:g.70659120AC[7], NC_000014.9:g.70659120AC[8], NC_000014.9:g.70659120AC[9], NC_000014.9:g.70659120AC[10], NC_000014.9:g.70659120AC[11], NC_000014.9:g.70659120AC[12], NC_000014.8:g.71125837AC[3], NC_000014.8:g.71125837AC[4], NC_000014.8:g.71125837AC[5], NC_000014.8:g.71125837AC[7], NC_000014.8:g.71125837AC[8], NC_000014.8:g.71125837AC[9], NC_000014.8:g.71125837AC[10], NC_000014.8:g.71125837AC[11], NC_000014.8:g.71125837AC[12], NG_012648.2:g.22334AC[3], NG_012648.2:g.22334AC[4], NG_012648.2:g.22334AC[5], NG_012648.2:g.22334AC[7], NG_012648.2:g.22334AC[8], NG_012648.2:g.22334AC[9], NG_012648.2:g.22334AC[10], NG_012648.2:g.22334AC[11], NG_012648.2:g.22334AC[12]
7.
rs1491015406 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 14:70665354
(GRCh38)
14:71132072
(GRCh37)
- Canonical SPDI:
- NC_000014.9:70665354:T:TT
- Gene:
- TTC9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
8.
rs1490966392 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 14:70641603
(GRCh38)
14:71108320
(GRCh37)
- Canonical SPDI:
- NC_000014.9:70641602:A:G,NC_000014.9:70641602:A:T
- Gene:
- TTC9 (Varview), TTC9-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00015/4
(TOMMO)
A=0.27273/6
(SGDP_PRJ)
- HGVS:
9.
rs1490904461 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:70666467
(GRCh38)
14:71133184
(GRCh37)
- Canonical SPDI:
- NC_000014.9:70666466:G:C
- Gene:
- TTC9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
10.
rs1490891412 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:70647240
(GRCh38)
14:71113957
(GRCh37)
- Canonical SPDI:
- NC_000014.9:70647239:C:T
- Gene:
- TTC9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
11.
rs1490829411 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:70650283
(GRCh38)
14:71117000
(GRCh37)
- Canonical SPDI:
- NC_000014.9:70650282:C:T
- Gene:
- TTC9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490611938 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:70674593
(GRCh38)
14:71141310
(GRCh37)
- Canonical SPDI:
- NC_000014.9:70674592:C:T
- Gene:
- TTC9 (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=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490611110 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:70663242
(GRCh38)
14:71129959
(GRCh37)
- Canonical SPDI:
- NC_000014.9:70663241:C:T
- Gene:
- TTC9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0./0
(GnomAD)
- HGVS:
14.
rs1490542567 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:70641886
(GRCh38)
14:71108603
(GRCh37)
- Canonical SPDI:
- NC_000014.9:70641885:G:A
- Gene:
- TTC9 (Varview), TTC9-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.00003/8
(TOPMED)
- HGVS:
15.
rs1490475909 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 14:70641249
(GRCh38)
14:71107966
(GRCh37)
- Canonical SPDI:
- NC_000014.9:70641248:G:T
- Gene:
- TTC9 (Varview), TTC9-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
16.
rs1490306698 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:70648357
(GRCh38)
14:71115074
(GRCh37)
- Canonical SPDI:
- NC_000014.9:70648356:A:G
- Gene:
- TTC9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000034/9
(TOPMED)
G=0.000036/5
(GnomAD)
- HGVS:
17.
rs1490208937 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:70642363
(GRCh38)
14:71109080
(GRCh37)
- Canonical SPDI:
- NC_000014.9:70642362:C:A
- Gene:
- TTC9 (Varview), TTC9-DT (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000004/1
(TOPMED)
- HGVS:
18.
rs1490151076 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:70673101
(GRCh38)
14:71139818
(GRCh37)
- Canonical SPDI:
- NC_000014.9:70673100:G:A
- Gene:
- TTC9 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
19.
rs1490122394 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:70674113
(GRCh38)
14:71140830
(GRCh37)
- Canonical SPDI:
- NC_000014.9:70674112:C:T
- Gene:
- TTC9 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
20.
rs1490079066 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:70657759
(GRCh38)
14:71124476
(GRCh37)
- Canonical SPDI:
- NC_000014.9:70657758:A:G
- Gene:
- TTC9 (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: