Links from Gene
Items: 1 to 20 of 7660
1.
rs1491443189 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 11:75778833
(GRCh38)
11:75489878
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75778832:CA:
- Gene:
- DGAT2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
4.
rs1491132382 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 11:75787380
(GRCh38)
11:75498426
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75787380:A:AA
- Gene:
- DGAT2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
A=0.000023/6
(TOPMED)
- HGVS:
5.
rs1490844510 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 11:75769948
(GRCh38)
11:75480993
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75769947:T:G
- Gene:
- DGAT2 (Varview), DGAT2-DT (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
6.
rs1490827022 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:75774820
(GRCh38)
11:75485865
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75774819:A:G
- Gene:
- DGAT2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
7.
rs1490705688 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:75792561
(GRCh38)
11:75503606
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75792560:C:T
- Gene:
- DGAT2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
8.
rs1490586880 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:75800363
(GRCh38)
11:75511408
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75800362:C:T
- Gene:
- DGAT2 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000011.10:g.75800363C>T, NC_000011.9:g.75511408C>T, NG_046775.1:g.36631C>T, NM_032564.5:c.1022C>T, NM_032564.4:c.1022C>T, NM_001253891.2:c.893C>T, NM_001253891.1:c.893C>T, XM_011545304.3:c.932C>T, XM_011545304.2:c.932C>T, XM_011545304.1:c.932C>T, XM_047427716.1:c.749C>T, NP_115953.2:p.Pro341Leu, NP_001240820.1:p.Pro298Leu, XP_011543606.1:p.Pro311Leu, XP_047283672.1:p.Pro250Leu
9.
rs1490506636 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:75787087
(GRCh38)
11:75498132
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75787086:C:G
- Gene:
- DGAT2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
10.
rs1490440253 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 11:75784212
(GRCh38)
11:75495257
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75784211:A:T
- Gene:
- DGAT2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
11.
rs1490411923 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:75801390
(GRCh38)
11:75512435
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75801389:C:T
- Gene:
- DGAT2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
NC_000011.10:g.75801390C>T, NC_000011.9:g.75512435C>T, NG_046775.1:g.37658C>T, NM_032564.5:c.*882C>T, NM_032564.4:c.*882C>T, NM_001253891.2:c.*882C>T, NM_001253891.1:c.*882C>T, XM_011545304.3:c.*882C>T, XM_011545304.2:c.*882C>T, XM_011545304.1:c.*882C>T, XM_047427716.1:c.*882C>T
12.
rs1490336249 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 11:75788275
(GRCh38)
11:75499320
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75788274:G:A,NC_000011.10:75788274:G:C,NC_000011.10:75788274:G:T
- Gene:
- DGAT2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
C=0.000342/1
(KOREAN)
- HGVS:
13.
rs1490246217 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:75767643
(GRCh38)
11:75478688
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75767642:A:G
- Gene:
- DGAT2 (Varview), DGAT2-DT (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
14.
rs1490135642 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:75782114
(GRCh38)
11:75493159
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75782113:C:T
- Gene:
- DGAT2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000106/2
(TOMMO)
- HGVS:
15.
rs1490122751 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:75799365
(GRCh38)
11:75510410
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75799364:T:C
- Gene:
- DGAT2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
16.
rs1489919583 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:75791116
(GRCh38)
11:75502161
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75791115:C:T
- Gene:
- DGAT2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
17.
rs1489919402 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:75769677
(GRCh38)
11:75480722
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75769676:C:T
- Gene:
- DGAT2 (Varview), DGAT2-DT (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
18.
rs1489863399 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:75772002
(GRCh38)
11:75483047
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75772001:A:G
- Gene:
- DGAT2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000021/3
(GnomAD)
G=0.000042/11
(TOPMED)
- HGVS:
19.
rs1489719287 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:75768148
(GRCh38)
11:75479193
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75768147:G:A
- Gene:
- DGAT2 (Varview), DGAT2-DT (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
A=0.000035/1
(TOMMO)
A=0.000312/2
(1000Genomes)
- HGVS:
20.
rs1489682673 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:75768823
(GRCh38)
11:75479868
(GRCh37)
- Canonical SPDI:
- NC_000011.10:75768822:C:T
- Gene:
- DGAT2 (Varview), DGAT2-DT (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0./0
(GnomAD)
T=0.000008/2
(TOPMED)
T=0.000071/1
(TOMMO)
T=0.000312/2
(1000Genomes)
- HGVS: