Links from Gene
Items: 1 to 20 of 4469
1.
rs1491526950 has merged into rs770893268 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 16:408534
(GRCh38)
16:458534
(GRCh37)
- Canonical SPDI:
- NC_000016.10:408522:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:408522:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:408522:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:408522:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:408522:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:408522:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
- Gene:
- DECR2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.175/7
(GENOME_DK)
- HGVS:
NC_000016.10:g.408534_408536del, NC_000016.10:g.408535_408536del, NC_000016.10:g.408536del, NC_000016.10:g.408536dup, NC_000016.10:g.408535_408536dup, NC_000016.10:g.408534_408536dup, NC_000016.9:g.458534_458536del, NC_000016.9:g.458535_458536del, NC_000016.9:g.458536del, NC_000016.9:g.458536dup, NC_000016.9:g.458535_458536dup, NC_000016.9:g.458534_458536dup, NT_187610.1:g.7680_7682del, NT_187610.1:g.7681_7682del, NT_187610.1:g.7682del, NT_187610.1:g.7682dup, NT_187610.1:g.7681_7682dup, NT_187610.1:g.7680_7682dup ...more
3.
rs1491409423 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 16:408523
(GRCh38)
16:458524
(GRCh37)
- Canonical SPDI:
- NC_000016.10:408523::C
- Gene:
- DECR2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000008/1
(GnomAD)
...more- HGVS:
5.
rs1490978525 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 16:405914
(GRCh38)
16:455914
(GRCh37)
- Canonical SPDI:
- NC_000016.10:405913:G:C
- Gene:
- DECR2 (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)
...more- HGVS:
6.
rs1490870669 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:405048
(GRCh38)
16:455048
(GRCh37)
- Canonical SPDI:
- NC_000016.10:405047:C:T
- Gene:
- DECR2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
8.
rs1490797652 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:407688
(GRCh38)
16:457688
(GRCh37)
- Canonical SPDI:
- NC_000016.10:407687:C:T
- Gene:
- DECR2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0./0
(KOREAN)
T=0.000008/2
(TOPMED)
T=0.000021/3
(GnomAD)
...more- HGVS:
9.
rs1490553166 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:411691
(GRCh38)
16:461691
(GRCh37)
- Canonical SPDI:
- NC_000016.10:411690:C:T
- Gene:
- DECR2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
10.
rs1490316318 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:406630
(GRCh38)
16:456630
(GRCh37)
- Canonical SPDI:
- NC_000016.10:406629:T:C
- Gene:
- DECR2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
...more- HGVS:
12.
rs1490191559 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 16:410483
(GRCh38)
16:460483
(GRCh37)
- Canonical SPDI:
- NC_000016.10:410482:G:A,NC_000016.10:410482:G:T
- Gene:
- DECR2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00004/1
(TOMMO)
G=0.5/1
(SGDP_PRJ)
...more- HGVS:
14.
rs1490156517 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:405529
(GRCh38)
16:455529
(GRCh37)
- Canonical SPDI:
- NC_000016.10:405528:A:G
- Gene:
- DECR2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
...more- HGVS:
15.
rs1489800495 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:408636
(GRCh38)
16:458636
(GRCh37)
- Canonical SPDI:
- NC_000016.10:408635:G:A
- Gene:
- DECR2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1488885601 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 16:405110
(GRCh38)
16:455110
(GRCh37)
- Canonical SPDI:
- NC_000016.10:405109:T:G
- Gene:
- DECR2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
...more- HGVS:
17.
rs1488858945 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:410066
(GRCh38)
16:460066
(GRCh37)
- Canonical SPDI:
- NC_000016.10:410065:C:T
- Gene:
- DECR2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000029/4
(GnomAD)
...more- HGVS:
18.
rs1488676451 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:404318
(GRCh38)
16:454318
(GRCh37)
- Canonical SPDI:
- NC_000016.10:404317:A:G
- Gene:
- DECR2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
20.
rs1488351671 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:409412
(GRCh38)
16:459412
(GRCh37)
- Canonical SPDI:
- NC_000016.10:409411:C:T
- Gene:
- DECR2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000169/2
(
ALFA)
T=0.000029/4
(GnomAD)
- HGVS: