Links from Gene
Items: 1 to 20 of 6159
1.
rs1491271425 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 1:3321167
(GRCh38)
1:3237732
(GRCh37)
- Canonical SPDI:
- NC_000001.11:3321167:T:TT
- Gene:
- PRDM16 (Varview), LOC105378604 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
2.
rs1491175680 has merged into rs747479644 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGGG>-,G,GG,GGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGG,GGGGGGGGGGGGG,GGGGGGGGGGGGGG,GGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGG
[Show Flanks]
- Chromosome:
- 1:3314079
(GRCh38)
1:3230643
(GRCh37)
- Canonical SPDI:
- NC_000001.11:3314071:GGGGGGGGGGG:GGGGGGG,NC_000001.11:3314071:GGGGGGGGGGG:GGGGGGGG,NC_000001.11:3314071:GGGGGGGGGGG:GGGGGGGGG,NC_000001.11:3314071:GGGGGGGGGGG:GGGGGGGGGG,NC_000001.11:3314071:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000001.11:3314071:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000001.11:3314071:GGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000001.11:3314071:GGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000001.11:3314071:GGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000001.11:3314071:GGGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000001.11:3314071:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGG,NC_000001.11:3314071:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGG,NC_000001.11:3314071:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGG,NC_000001.11:3314071:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGG,NC_000001.11:3314071:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:3314071:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:3314071:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:3314071:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:3314071:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:3314071:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:3314071:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGG
- Gene:
- PRDM16 (Varview), LOC105378604 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGGG=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
NC_000001.11:g.3314079_3314082del, NC_000001.11:g.3314080_3314082del, NC_000001.11:g.3314081_3314082del, NC_000001.11:g.3314082del, NC_000001.11:g.3314082dup, NC_000001.11:g.3314081_3314082dup, NC_000001.11:g.3314080_3314082dup, NC_000001.11:g.3314079_3314082dup, NC_000001.11:g.3314078_3314082dup, NC_000001.11:g.3314077_3314082dup, NC_000001.11:g.3314076_3314082dup, NC_000001.11:g.3314075_3314082dup, NC_000001.11:g.3314074_3314082dup, NC_000001.11:g.3314073_3314082dup, NC_000001.11:g.3314072_3314082dup, NC_000001.11:g.3314082_3314083insGGGGGGGGGGGG, NC_000001.11:g.3314082_3314083insGGGGGGGGGGGGG, NC_000001.11:g.3314082_3314083insGGGGGGGGGGGGGG, NC_000001.11:g.3314082_3314083insGGGGGGGGGGGGGGG, NC_000001.11:g.3314082_3314083insGGGGGGGGGGGGGGGG, NC_000001.11:g.3314082_3314083insGGGGGGGGGGGGGGGGG, NC_000001.10:g.3230643_3230646del, NC_000001.10:g.3230644_3230646del, NC_000001.10:g.3230645_3230646del, NC_000001.10:g.3230646del, NC_000001.10:g.3230646dup, NC_000001.10:g.3230645_3230646dup, NC_000001.10:g.3230644_3230646dup, NC_000001.10:g.3230643_3230646dup, NC_000001.10:g.3230642_3230646dup, NC_000001.10:g.3230641_3230646dup, NC_000001.10:g.3230640_3230646dup, NC_000001.10:g.3230639_3230646dup, NC_000001.10:g.3230638_3230646dup, NC_000001.10:g.3230637_3230646dup, NC_000001.10:g.3230636_3230646dup, NC_000001.10:g.3230646_3230647insGGGGGGGGGGGG, NC_000001.10:g.3230646_3230647insGGGGGGGGGGGGG, NC_000001.10:g.3230646_3230647insGGGGGGGGGGGGGG, NC_000001.10:g.3230646_3230647insGGGGGGGGGGGGGGG, NC_000001.10:g.3230646_3230647insGGGGGGGGGGGGGGGG, NC_000001.10:g.3230646_3230647insGGGGGGGGGGGGGGGGG, NG_029576.2:g.249902_249905del, NG_029576.2:g.249903_249905del, NG_029576.2:g.249904_249905del, NG_029576.2:g.249905del, NG_029576.2:g.249905dup, NG_029576.2:g.249904_249905dup, NG_029576.2:g.249903_249905dup, NG_029576.2:g.249902_249905dup, NG_029576.2:g.249901_249905dup, NG_029576.2:g.249900_249905dup, NG_029576.2:g.249899_249905dup, NG_029576.2:g.249898_249905dup, NG_029576.2:g.249897_249905dup, NG_029576.2:g.249896_249905dup, NG_029576.2:g.249895_249905dup, NG_029576.2:g.249905_249906insGGGGGGGGGGGG, NG_029576.2:g.249905_249906insGGGGGGGGGGGGG, NG_029576.2:g.249905_249906insGGGGGGGGGGGGGG, NG_029576.2:g.249905_249906insGGGGGGGGGGGGGGG, NG_029576.2:g.249905_249906insGGGGGGGGGGGGGGGG, NG_029576.2:g.249905_249906insGGGGGGGGGGGGGGGGG
3.
rs1491164984 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 1:3321174
(GRCh38)
1:3237738
(GRCh37)
- Canonical SPDI:
- NC_000001.11:3321166:GTGTGTGTG:GTGTGTG
- Gene:
- PRDM16 (Varview), LOC105378604 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GTGTGTG=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
4.
rs1491115304 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 1:3321526
(GRCh38)
1:3238090
(GRCh37)
- Canonical SPDI:
- NC_000001.11:3321525:AT:
- Gene:
- PRDM16 (Varview), LOC105378604 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
5.
rs1491061155 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 1:3321391
(GRCh38)
1:3237955
(GRCh37)
- Canonical SPDI:
- NC_000001.11:3321388:TGTG:TG
- Gene:
- PRDM16 (Varview), LOC105378604 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTG=0./0
(
ALFA)
-=0.000022/3
(GnomAD)
- HGVS:
6.
rs1490748609 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:3306344
(GRCh38)
1:3222908
(GRCh37)
- Canonical SPDI:
- NC_000001.11:3306343:C:T
- Gene:
- PRDM16 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
7.
rs1490709767 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:3320229
(GRCh38)
1:3236793
(GRCh37)
- Canonical SPDI:
- NC_000001.11:3320228:G:A
- Gene:
- PRDM16 (Varview), LOC105378604 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000023/6
(TOPMED)
- HGVS:
8.
rs1490583422 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:3306819
(GRCh38)
1:3223383
(GRCh37)
- Canonical SPDI:
- NC_000001.11:3306818:A:C
- Gene:
- PRDM16 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
C=0.001092/2
(Korea1K)
- HGVS:
9.
rs1490473492 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 1:3324924
(GRCh38)
1:3241488
(GRCh37)
- Canonical SPDI:
- NC_000001.11:3324923:T:
- Gene:
- PRDM16 (Varview), LOC105378604 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
10.
rs1490306531 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:3317939
(GRCh38)
1:3234503
(GRCh37)
- Canonical SPDI:
- NC_000001.11:3317938:A:G
- Gene:
- PRDM16 (Varview), LOC105378604 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,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:
11.
rs1490247152 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:3324637
(GRCh38)
1:3241201
(GRCh37)
- Canonical SPDI:
- NC_000001.11:3324636:C:G
- Gene:
- PRDM16 (Varview), LOC105378604 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000021/3
(GnomAD)
G=0.000023/6
(TOPMED)
- HGVS:
12.
rs1490212070 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:3329875
(GRCh38)
1:3246439
(GRCh37)
- Canonical SPDI:
- NC_000001.11:3329874:C:T
- Gene:
- PRDM16 (Varview)
- Functional Consequence:
- intron_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.
rs1490193495 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:3318784
(GRCh38)
1:3235348
(GRCh37)
- Canonical SPDI:
- NC_000001.11:3318783:G:C
- Gene:
- PRDM16 (Varview), LOC105378604 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
14.
rs1489741347 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:3323969
(GRCh38)
1:3240533
(GRCh37)
- Canonical SPDI:
- NC_000001.11:3323968:G:A
- Gene:
- PRDM16 (Varview), LOC105378604 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
15.
rs1489608078 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TG>-,TGTG
[Show Flanks]
- Chromosome:
- 1:3322236
(GRCh38)
1:3238800
(GRCh37)
- Canonical SPDI:
- NC_000001.11:3322226:GTGTGTGTGTG:GTGTGTGTG,NC_000001.11:3322226:GTGTGTGTGTG:GTGTGTGTGTGTG
- Gene:
- PRDM16 (Varview), LOC105378604 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTG=0./0
(
ALFA)
- HGVS:
16.
rs1489449543 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:3308233
(GRCh38)
1:3224797
(GRCh37)
- Canonical SPDI:
- NC_000001.11:3308232:C:T
- Gene:
- PRDM16 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
T=0.000035/1
(TOMMO)
- HGVS:
17.
rs1489410331 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:3329441
(GRCh38)
1:3246005
(GRCh37)
- Canonical SPDI:
- NC_000001.11:3329440:A:G
- Gene:
- PRDM16 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
18.
rs1489399694 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:3309090
(GRCh38)
1:3225654
(GRCh37)
- Canonical SPDI:
- NC_000001.11:3309089:C:G
- Gene:
- PRDM16 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000026/7
(TOPMED)
G=0.000036/5
(GnomAD)
- HGVS:
19.
rs1489322827 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 1:3317466
(GRCh38)
1:3234030
(GRCh37)
- Canonical SPDI:
- NC_000001.11:3317465:T:C,NC_000001.11:3317465:T:G
- Gene:
- PRDM16 (Varview), LOC105378604 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000071/1
(TOMMO)
G=0.000546/1
(Korea1K)
- HGVS:
20.
rs1489249102 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:3321084
(GRCh38)
1:3237648
(GRCh37)
- Canonical SPDI:
- NC_000001.11:3321083:G:T
- Gene:
- PRDM16 (Varview), LOC105378604 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS: