Links from Gene
Items: 1 to 20 of 1000
1.
rs1491566378 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 11:43379458
(GRCh38)
11:43401008
(GRCh37)
- Canonical SPDI:
- NC_000011.10:43379457:AT:
- Gene:
- TTC17 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000108/2
(
ALFA)
-=0.00006/8
(GnomAD)
- HGVS:
2.
rs1491426051 has merged into rs35337370 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,TTT,TTTTTTT
[Show Flanks]
- Chromosome:
- 11:43379482
(GRCh38)
11:43401032
(GRCh37)
- Canonical SPDI:
- NC_000011.10:43379480:TTTTTT:T,NC_000011.10:43379480:TTTTTT:TTTT,NC_000011.10:43379480:TTTTTT:TTTTTTTT
- Gene:
- TTC17 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTT=0./0
(
ALFA)
TT=0.000004/1
(TOPMED)
-=0.000036/5
(GnomAD)
- HGVS:
4.
rs1491405362 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTTT
[Show Flanks]
- Chromosome:
- 11:43362149
(GRCh38)
11:43383699
(GRCh37)
- Canonical SPDI:
- NC_000011.10:43362147:TTT:T,NC_000011.10:43362147:TTT:TT,NC_000011.10:43362147:TTT:TTTTT
- Gene:
- TTC17 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.00001/1
(GnomAD)
- HGVS:
6.
rs1491138768 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 11:43456179
(GRCh38)
11:43477729
(GRCh37)
- Canonical SPDI:
- NC_000011.10:43456178:AA:
- Gene:
- TTC17 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000018/2
(GnomAD)
- HGVS:
7.
rs1491119455 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AT
[Show Flanks]
- Chromosome:
- 11:43362148
(GRCh38)
11:43383699
(GRCh37)
- Canonical SPDI:
- NC_000011.10:43362148:T:TAT
- Gene:
- TTC17 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
TA=0./0
(GnomAD)
TA=0.00031/2
(1000Genomes)
- HGVS:
8.
rs1491040455 has merged into rs140936007 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 11:43472853
(GRCh38)
11:43494403
(GRCh37)
- Canonical SPDI:
- NC_000011.10:43472841:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:43472841:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:43472841:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:43472841:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:43472841:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:43472841:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:43472841:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:43472841:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:43472841:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:43472841:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:43472841:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- TTC17 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0.0559/280
(1000Genomes)
A=0.25/2
(KOREAN)
A=0.35/14
(GENOME_DK)
- HGVS:
NC_000011.10:g.43472853_43472858del, NC_000011.10:g.43472854_43472858del, NC_000011.10:g.43472855_43472858del, NC_000011.10:g.43472856_43472858del, NC_000011.10:g.43472857_43472858del, NC_000011.10:g.43472858del, NC_000011.10:g.43472858dup, NC_000011.10:g.43472857_43472858dup, NC_000011.10:g.43472856_43472858dup, NC_000011.10:g.43472853_43472858dup, NC_000011.10:g.43472851_43472858dup, NC_000011.9:g.43494403_43494408del, NC_000011.9:g.43494404_43494408del, NC_000011.9:g.43494405_43494408del, NC_000011.9:g.43494406_43494408del, NC_000011.9:g.43494407_43494408del, NC_000011.9:g.43494408del, NC_000011.9:g.43494408dup, NC_000011.9:g.43494407_43494408dup, NC_000011.9:g.43494406_43494408dup, NC_000011.9:g.43494403_43494408dup, NC_000011.9:g.43494401_43494408dup
9.
rs1491018145 has merged into rs10638143 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACACACACACACACA>-,CA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 11:43444734
(GRCh38)
11:43466284
(GRCh37)
- Canonical SPDI:
- NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACA,NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACACA,NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- TTC17 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACA=0./0
(
ALFA)
-=0.375/3
(KOREAN)
AC=0.4986/2497
(1000Genomes)
- HGVS:
NC_000011.10:g.43444724CA[5], NC_000011.10:g.43444724CA[6], NC_000011.10:g.43444724CA[8], NC_000011.10:g.43444724CA[9], NC_000011.10:g.43444724CA[10], NC_000011.10:g.43444724CA[11], NC_000011.10:g.43444724CA[12], NC_000011.10:g.43444724CA[13], NC_000011.10:g.43444724CA[14], NC_000011.10:g.43444724CA[15], NC_000011.10:g.43444724CA[16], NC_000011.10:g.43444724CA[17], NC_000011.10:g.43444724CA[19], NC_000011.10:g.43444724CA[20], NC_000011.10:g.43444724CA[21], NC_000011.10:g.43444724CA[22], NC_000011.10:g.43444724CA[23], NC_000011.10:g.43444724CA[24], NC_000011.10:g.43444724CA[25], NC_000011.10:g.43444724CA[26], NC_000011.10:g.43444724CA[27], NC_000011.10:g.43444724CA[30], NC_000011.9:g.43466274CA[5], NC_000011.9:g.43466274CA[6], NC_000011.9:g.43466274CA[8], NC_000011.9:g.43466274CA[9], NC_000011.9:g.43466274CA[10], NC_000011.9:g.43466274CA[11], NC_000011.9:g.43466274CA[12], NC_000011.9:g.43466274CA[13], NC_000011.9:g.43466274CA[14], NC_000011.9:g.43466274CA[15], NC_000011.9:g.43466274CA[16], NC_000011.9:g.43466274CA[17], NC_000011.9:g.43466274CA[19], NC_000011.9:g.43466274CA[20], NC_000011.9:g.43466274CA[21], NC_000011.9:g.43466274CA[22], NC_000011.9:g.43466274CA[23], NC_000011.9:g.43466274CA[24], NC_000011.9:g.43466274CA[25], NC_000011.9:g.43466274CA[26], NC_000011.9:g.43466274CA[27], NC_000011.9:g.43466274CA[30]
10.
rs1491000734 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 11:43408240
(GRCh38)
11:43429790
(GRCh37)
- Canonical SPDI:
- NC_000011.10:43408239:G:T
- Gene:
- TTC17 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
11.
rs1490997358 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 11:43478615
(GRCh38)
11:43500165
(GRCh37)
- Canonical SPDI:
- NC_000011.10:43478614:T:C,NC_000011.10:43478614:T:G
- Gene:
- TTC17 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490832551 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:43376661
(GRCh38)
11:43398211
(GRCh37)
- Canonical SPDI:
- NC_000011.10:43376660:T:C
- Gene:
- TTC17 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
13.
rs1490830099 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 11:43431946
(GRCh38)
11:43453496
(GRCh37)
- Canonical SPDI:
- NC_000011.10:43431945:G:C
- Gene:
- TTC17 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
14.
rs1490812890 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:43362728
(GRCh38)
11:43384278
(GRCh37)
- Canonical SPDI:
- NC_000011.10:43362727:G:A
- Gene:
- TTC17 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_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.
rs1490775810 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:43485282
(GRCh38)
11:43506832
(GRCh37)
- Canonical SPDI:
- NC_000011.10:43485281:A:G
- Gene:
- TTC17 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490763175 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:43430860
(GRCh38)
11:43452410
(GRCh37)
- Canonical SPDI:
- NC_000011.10:43430859:A:G
- Gene:
- TTC17 (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:
17.
rs1490752303 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:43450501
(GRCh38)
11:43472051
(GRCh37)
- Canonical SPDI:
- NC_000011.10:43450500:A:G
- Gene:
- TTC17 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
18.
rs1490743280 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAATA>-
[Show Flanks]
- Chromosome:
- 11:43485622
(GRCh38)
11:43507172
(GRCh37)
- Canonical SPDI:
- NC_000011.10:43485617:AATAAAATA:AATA
- Gene:
- TTC17 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AATA=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
19.
rs1490741076 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:43362071
(GRCh38)
11:43383621
(GRCh37)
- Canonical SPDI:
- NC_000011.10:43362070:C:G
- Gene:
- TTC17 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
20.
rs1490719646 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 11:43470714
(GRCh38)
11:43492264
(GRCh37)
- Canonical SPDI:
- NC_000011.10:43470713:A:T
- Gene:
- TTC17 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS: