Links from Gene
Items: 1 to 20 of 3407
1.
rs1491325583 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 4:80186457
(GRCh38)
4:81107611
(GRCh37)
- Canonical SPDI:
- NC_000004.12:80186456:TT:
- Gene:
- PRDM8 (Varview), PRDM8-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.003001/49
(
ALFA)
-=0.000625/4
(1000Genomes)
-=0.000885/15
(TOMMO)
-=0.002735/373
(GnomAD)
- HGVS:
2.
rs1491121894 has merged into rs1234830907 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGG>-,GG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG
[Show Flanks]
- Chromosome:
- 4:80187246
(GRCh38)
4:81108400
(GRCh37)
- Canonical SPDI:
- NC_000004.12:80187244:GGGG:G,NC_000004.12:80187244:GGGG:GGG,NC_000004.12:80187244:GGGG:GGGGG,NC_000004.12:80187244:GGGG:GGGGGG,NC_000004.12:80187244:GGGG:GGGGGGG,NC_000004.12:80187244:GGGG:GGGGGGGG,NC_000004.12:80187244:GGGG:GGGGGGGGG
- Gene:
- PRDM8 (Varview), PRDM8-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
-=0.00096/12
(TOMMO)
- HGVS:
NC_000004.12:g.80187246_80187248del, NC_000004.12:g.80187248del, NC_000004.12:g.80187248dup, NC_000004.12:g.80187247_80187248dup, NC_000004.12:g.80187246_80187248dup, NC_000004.12:g.80187245_80187248dup, NC_000004.12:g.80187248_80187249insGGGGG, NC_000004.11:g.81108400_81108402del, NC_000004.11:g.81108402del, NC_000004.11:g.81108402dup, NC_000004.11:g.81108401_81108402dup, NC_000004.11:g.81108400_81108402dup, NC_000004.11:g.81108399_81108402dup, NC_000004.11:g.81108402_81108403insGGGGG, NG_046725.1:g.6977_6979del, NG_046725.1:g.6979del, NG_046725.1:g.6979dup, NG_046725.1:g.6978_6979dup, NG_046725.1:g.6977_6979dup, NG_046725.1:g.6976_6979dup, NG_046725.1:g.6979_6980insGGGGG
4.
rs1491022744 has merged into rs1553904276 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAGAGAGAGAGAGAGA>-,GAGA,GAGAGA,GAGAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
[Show Flanks]
- Chromosome:
- 4:80195944
(GRCh38)
4:81117098
(GRCh37)
- Canonical SPDI:
- NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
- Gene:
- PRDM8 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGAGAGAGAGAGAGAGA=0./0
(
ALFA)
- HGVS:
NC_000004.12:g.80195930GA[7], NC_000004.12:g.80195930GA[9], NC_000004.12:g.80195930GA[10], NC_000004.12:g.80195930GA[11], NC_000004.12:g.80195930GA[12], NC_000004.12:g.80195930GA[13], NC_000004.12:g.80195930GA[14], NC_000004.12:g.80195930GA[16], NC_000004.12:g.80195930GA[17], NC_000004.12:g.80195930GA[18], NC_000004.12:g.80195930GA[19], NC_000004.12:g.80195930GA[20], NC_000004.12:g.80195930GA[21], NC_000004.12:g.80195930GA[22], NC_000004.12:g.80195930GA[23], NC_000004.12:g.80195930GA[24], NC_000004.12:g.80195930GA[25], NC_000004.12:g.80195930GA[26], NC_000004.12:g.80195930GA[27], NC_000004.12:g.80195930GA[28], NC_000004.11:g.81117084GA[7], NC_000004.11:g.81117084GA[9], NC_000004.11:g.81117084GA[10], NC_000004.11:g.81117084GA[11], NC_000004.11:g.81117084GA[12], NC_000004.11:g.81117084GA[13], NC_000004.11:g.81117084GA[14], NC_000004.11:g.81117084GA[16], NC_000004.11:g.81117084GA[17], NC_000004.11:g.81117084GA[18], NC_000004.11:g.81117084GA[19], NC_000004.11:g.81117084GA[20], NC_000004.11:g.81117084GA[21], NC_000004.11:g.81117084GA[22], NC_000004.11:g.81117084GA[23], NC_000004.11:g.81117084GA[24], NC_000004.11:g.81117084GA[25], NC_000004.11:g.81117084GA[26], NC_000004.11:g.81117084GA[27], NC_000004.11:g.81117084GA[28], NG_046725.1:g.15661GA[7], NG_046725.1:g.15661GA[9], NG_046725.1:g.15661GA[10], NG_046725.1:g.15661GA[11], NG_046725.1:g.15661GA[12], NG_046725.1:g.15661GA[13], NG_046725.1:g.15661GA[14], NG_046725.1:g.15661GA[16], NG_046725.1:g.15661GA[17], NG_046725.1:g.15661GA[18], NG_046725.1:g.15661GA[19], NG_046725.1:g.15661GA[20], NG_046725.1:g.15661GA[21], NG_046725.1:g.15661GA[22], NG_046725.1:g.15661GA[23], NG_046725.1:g.15661GA[24], NG_046725.1:g.15661GA[25], NG_046725.1:g.15661GA[26], NG_046725.1:g.15661GA[27], NG_046725.1:g.15661GA[28]
5.
rs1490905377 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:80194418
(GRCh38)
4:81115572
(GRCh37)
- Canonical SPDI:
- NC_000004.12:80194417:T:C
- Gene:
- PRDM8 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
6.
rs1490636965 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 4:80187249
(GRCh38)
4:81108403
(GRCh37)
- Canonical SPDI:
- NC_000004.12:80187248:C:
- Gene:
- PRDM8 (Varview), PRDM8-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00009/8
(GnomAD)
- HGVS:
8.
rs1489819091 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 4:80192364
(GRCh38)
4:81113518
(GRCh37)
- Canonical SPDI:
- NC_000004.12:80192363:C:G,NC_000004.12:80192363:C:T
- Gene:
- PRDM8 (Varview), PRDM8-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
9.
rs1489295486 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:80185985
(GRCh38)
4:81107139
(GRCh37)
- Canonical SPDI:
- NC_000004.12:80185984:A:G
- Gene:
- PRDM8 (Varview), PRDM8-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
10.
rs1489025355 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:80192495
(GRCh38)
4:81113649
(GRCh37)
- Canonical SPDI:
- NC_000004.12:80192494:C:T
- Gene:
- PRDM8 (Varview), PRDM8-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
- HGVS:
11.
rs1488960520 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 4:80185857
(GRCh38)
4:81107011
(GRCh37)
- Canonical SPDI:
- NC_000004.12:80185856:C:A
- Gene:
- PRDM8 (Varview), PRDM8-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
12.
rs1488694775 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:80184821
(GRCh38)
4:81105975
(GRCh37)
- Canonical SPDI:
- NC_000004.12:80184820:T:C
- Gene:
- PRDM8 (Varview), PRDM8-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
13.
rs1488437679 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:80184483
(GRCh38)
4:81105637
(GRCh37)
- Canonical SPDI:
- NC_000004.12:80184482:T:C
- Gene:
- PRDM8 (Varview), PRDM8-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
14.
rs1488133839 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 4:80194335
(GRCh38)
4:81115489
(GRCh37)
- Canonical SPDI:
- NC_000004.12:80194334:G:A,NC_000004.12:80194334:G:T
- Gene:
- PRDM8 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
15.
rs1487895584 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:80192750
(GRCh38)
4:81113904
(GRCh37)
- Canonical SPDI:
- NC_000004.12:80192749:A:G
- Gene:
- PRDM8 (Varview), PRDM8-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
16.
rs1487607732 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:80194536
(GRCh38)
4:81115690
(GRCh37)
- Canonical SPDI:
- NC_000004.12:80194535:C:T
- Gene:
- PRDM8 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000023/6
(TOPMED)
- HGVS:
17.
rs1487454326 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 4:80184168
(GRCh38)
4:81105322
(GRCh37)
- Canonical SPDI:
- NC_000004.12:80184164:GCGCG:GCG
- Gene:
- PRDM8 (Varview), PRDM8-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCG=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
18.
rs1487382092 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:80193515
(GRCh38)
4:81114669
(GRCh37)
- Canonical SPDI:
- NC_000004.12:80193514:T:C
- Gene:
- PRDM8 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000036/5
(GnomAD)
- HGVS:
19.
rs1487321487 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:80185049
(GRCh38)
4:81106203
(GRCh37)
- Canonical SPDI:
- NC_000004.12:80185048:C:T
- Gene:
- PRDM8 (Varview), PRDM8-AS1 (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./0
(GnomAD)
T=0.000004/1
(TOPMED)
- HGVS:
20.
rs1487101036 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:80186671
(GRCh38)
4:81107825
(GRCh37)
- Canonical SPDI:
- NC_000004.12:80186670:A:G
- Gene:
- PRDM8 (Varview), PRDM8-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS: