Links from Gene
Items: 1 to 20 of 1361
1.
rs1490714782 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 5:271008
(GRCh38)
5:271123
(GRCh37)
- Canonical SPDI:
- NC_000005.10:271007:G:A,NC_000005.10:271007:G:C
- Gene:
- PDCD6 (Varview), PDCD6-DT (Varview), PDCD6-AHRR (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
C=0.000107/3
(TOMMO)
- HGVS:
2.
rs1490178952 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 5:269825
(GRCh38)
5:269940
(GRCh37)
- Canonical SPDI:
- NC_000005.10:269824:C:A,NC_000005.10:269824:C:T
- Gene:
- PDCD6 (Varview), PDCD6-DT (Varview), PDCD6-AHRR (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0./0
(SGDP_PRJ)
T=0.000004/1
(TOPMED)
- HGVS:
3.
rs1490029840 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:273016
(GRCh38)
5:273131
(GRCh37)
- Canonical SPDI:
- NC_000005.10:273015:A:G
- Gene:
- PDCD6 (Varview), PDCD6-DT (Varview), PDCD6-AHRR (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.001265/15
(
ALFA)
G=0.000868/119
(GnomAD)
A=0.5/1
(SGDP_PRJ)
- HGVS:
5.
rs1488363183 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 5:271535
(GRCh38)
5:271650
(GRCh37)
- Canonical SPDI:
- NC_000005.10:271534:T:C,NC_000005.10:271534:T:G
- Gene:
- PDCD6 (Varview), PDCD6-DT (Varview), PDCD6-AHRR (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)
C=0.000071/1
(TOMMO)
- HGVS:
6.
rs1488293169 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:272008
(GRCh38)
5:272123
(GRCh37)
- Canonical SPDI:
- NC_000005.10:272007:C:T
- Gene:
- PDCD6 (Varview), PDCD6-DT (Varview), PDCD6-AHRR (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.001053/3
(KOREAN)
- HGVS:
7.
rs1488036818 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 5:271245
(GRCh38)
5:271360
(GRCh37)
- Canonical SPDI:
- NC_000005.10:271244:C:
- Gene:
- PDCD6 (Varview), PDCD6-DT (Varview), PDCD6-AHRR (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
8.
rs1487146126 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 5:272843
(GRCh38)
5:272958
(GRCh37)
- Canonical SPDI:
- NC_000005.10:272842:C:G
- Gene:
- PDCD6 (Varview), PDCD6-DT (Varview), PDCD6-AHRR (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
9.
rs1487041974 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 5:271736
(GRCh38)
5:271851
(GRCh37)
- Canonical SPDI:
- NC_000005.10:271735:T:A,NC_000005.10:271735:T:C
- Gene:
- PDCD6 (Varview), PDCD6-DT (Varview), PDCD6-AHRR (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
NC_000005.10:g.271736T>A, NC_000005.10:g.271736T>C, NC_000005.9:g.271851T>A, NC_000005.9:g.271851T>C, NM_013232.4:c.16T>A, NM_013232.4:c.16T>C, NM_013232.3:c.16T>A, NM_013232.3:c.16T>C, NR_165159.2:n.91T>A, NR_165159.2:n.91T>C, NR_165159.1:n.91T>A, NR_165159.1:n.91T>C, NR_165163.2:n.91T>A, NR_165163.2:n.91T>C, NR_165163.1:n.91T>A, NR_165163.1:n.91T>C, NR_073609.2:n.91T>A, NR_073609.2:n.91T>C, NR_073609.1:n.116T>A, NR_073609.1:n.116T>C, NM_001267556.2:c.16T>A, NM_001267556.2:c.16T>C, NM_001267556.1:c.16T>A, NM_001267556.1:c.16T>C, NM_001267557.2:c.16T>A, NM_001267557.2:c.16T>C, NM_001267557.1:c.16T>A, NM_001267557.1:c.16T>C, NM_001267559.2:c.16T>A, NM_001267559.2:c.16T>C, NM_001267559.1:c.16T>A, NM_001267559.1:c.16T>C, NP_037364.1:p.Tyr6Asn, NP_037364.1:p.Tyr6His, NP_001254485.1:p.Tyr6Asn, NP_001254485.1:p.Tyr6His, NP_001254486.1:p.Tyr6Asn, NP_001254486.1:p.Tyr6His, NP_001254488.1:p.Tyr6Asn, NP_001254488.1:p.Tyr6His
10.
rs1486886766 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 5:273504
(GRCh38)
5:273619
(GRCh37)
- Canonical SPDI:
- NC_000005.10:273503:C:A
- Gene:
- PDCD6 (Varview), PDCD6-DT (Varview), PDCD6-AHRR (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
12.
rs1486066270 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:273237
(GRCh38)
5:273352
(GRCh37)
- Canonical SPDI:
- NC_000005.10:273236:C:T
- Gene:
- PDCD6 (Varview), PDCD6-DT (Varview), PDCD6-AHRR (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
14.
rs1483911945 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:270226
(GRCh38)
5:270341
(GRCh37)
- Canonical SPDI:
- NC_000005.10:270225:A:G
- Gene:
- PDCD6 (Varview), PDCD6-DT (Varview), PDCD6-AHRR (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
15.
rs1483332879 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:269948
(GRCh38)
5:270063
(GRCh37)
- Canonical SPDI:
- NC_000005.10:269947:A:G
- Gene:
- PDCD6 (Varview), PDCD6-DT (Varview), PDCD6-AHRR (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
16.
rs1482568282 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 5:271662
(GRCh38)
5:271777
(GRCh37)
- Canonical SPDI:
- NC_000005.10:271661:T:A
- Gene:
- PDCD6 (Varview), PDCD6-DT (Varview), PDCD6-AHRR (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000008/1
(GnomAD_exomes)
- HGVS:
NC_000005.10:g.271662T>A, NC_000005.9:g.271777T>A, NM_013232.4:c.-59T>A, NM_013232.3:c.-59T>A, NR_165159.2:n.17T>A, NR_165159.1:n.17T>A, NR_165163.2:n.17T>A, NR_165163.1:n.17T>A, NR_073609.2:n.17T>A, NR_073609.1:n.42T>A, NM_001267556.2:c.-59T>A, NM_001267556.1:c.-59T>A, NM_001267558.2:c.-184T>A, NM_001267558.1:c.-184T>A, NM_001267557.2:c.-59T>A, NM_001267557.1:c.-59T>A, NM_001267559.2:c.-59T>A, NM_001267559.1:c.-59T>A
17.
rs1481729126 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 5:271435
(GRCh38)
5:271550
(GRCh37)
- Canonical SPDI:
- NC_000005.10:271434:A:T
- Gene:
- PDCD6 (Varview), PDCD6-DT (Varview), PDCD6-AHRR (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
18.
rs1481688203 has merged into rs61221276 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 5:271034
(GRCh38)
5:271149
(GRCh37)
- Canonical SPDI:
- NC_000005.10:271024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:271024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:271024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:271024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:271024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:271024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:271024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:271024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:271024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:271024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:271024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:271024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:271024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:271024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:271024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:271024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:271024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:271024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:271024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:271024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:271024:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- PDCD6 (Varview), PDCD6-DT (Varview), PDCD6-AHRR (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
TTTTTTTTTTT=0./0
(GENOME_DK)
- HGVS:
NC_000005.10:g.271034_271044del, NC_000005.10:g.271035_271044del, NC_000005.10:g.271036_271044del, NC_000005.10:g.271037_271044del, NC_000005.10:g.271038_271044del, NC_000005.10:g.271039_271044del, NC_000005.10:g.271040_271044del, NC_000005.10:g.271041_271044del, NC_000005.10:g.271042_271044del, NC_000005.10:g.271043_271044del, NC_000005.10:g.271044del, NC_000005.10:g.271044dup, NC_000005.10:g.271043_271044dup, NC_000005.10:g.271042_271044dup, NC_000005.10:g.271041_271044dup, NC_000005.10:g.271040_271044dup, NC_000005.10:g.271039_271044dup, NC_000005.10:g.271038_271044dup, NC_000005.10:g.271037_271044dup, NC_000005.10:g.271036_271044dup, NC_000005.10:g.271034_271044dup, NC_000005.9:g.271149_271159del, NC_000005.9:g.271150_271159del, NC_000005.9:g.271151_271159del, NC_000005.9:g.271152_271159del, NC_000005.9:g.271153_271159del, NC_000005.9:g.271154_271159del, NC_000005.9:g.271155_271159del, NC_000005.9:g.271156_271159del, NC_000005.9:g.271157_271159del, NC_000005.9:g.271158_271159del, NC_000005.9:g.271159del, NC_000005.9:g.271159dup, NC_000005.9:g.271158_271159dup, NC_000005.9:g.271157_271159dup, NC_000005.9:g.271156_271159dup, NC_000005.9:g.271155_271159dup, NC_000005.9:g.271154_271159dup, NC_000005.9:g.271153_271159dup, NC_000005.9:g.271152_271159dup, NC_000005.9:g.271151_271159dup, NC_000005.9:g.271149_271159dup
19.
rs1481637770 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 5:270734
(GRCh38)
5:270849
(GRCh37)
- Canonical SPDI:
- NC_000005.10:270733:G:C,NC_000005.10:270733:G:T
- Gene:
- PDCD6 (Varview), PDCD6-DT (Varview), PDCD6-AHRR (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000015/2
(GnomAD)
C=0.000035/1
(TOMMO)
- HGVS: