Links from Gene
Items: 1 to 20 of 4129
1.
rs1491401008 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TCTGGGAAGGCAAAAG
[Show Flanks]
- Chromosome:
- 2:15921139
(GRCh38)
2:16061262
(GRCh37)
- Canonical SPDI:
- NC_000002.12:15921139::TCTGGGAAGGCAAAAG
- Gene:
- MYCNUT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TCTGGGAAGGCAAAAG=0./0
(
ALFA)
TCTGGGAAGGCAAAAG=0.000021/3
(GnomAD)
- HGVS:
2.
rs1490910239 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:15928198
(GRCh38)
2:16068320
(GRCh37)
- Canonical SPDI:
- NC_000002.12:15928197:A:G
- Gene:
- MYCNUT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
3.
rs1490734951 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 2:15921437
(GRCh38)
2:16061559
(GRCh37)
- Canonical SPDI:
- NC_000002.12:15921436:G:C,NC_000002.12:15921436:G:T
- Gene:
- MYCNUT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
4.
rs1490589264 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:15919480
(GRCh38)
2:16059603
(GRCh37)
- Canonical SPDI:
- NC_000002.12:15919479:G:A
- Gene:
- MYCNUT (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000026/7
(TOPMED)
A=0.000342/1
(KOREAN)
- HGVS:
5.
rs1490572486 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:15920362
(GRCh38)
2:16060484
(GRCh37)
- Canonical SPDI:
- NC_000002.12:15920361:A:C
- Gene:
- MYCNUT (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
7.
rs1490475787 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 2:15933962
(GRCh38)
2:16074084
(GRCh37)
- Canonical SPDI:
- NC_000002.12:15933961:G:T
- Gene:
- MYCNUT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
8.
rs1490460766 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:15935085
(GRCh38)
2:16075207
(GRCh37)
- Canonical SPDI:
- NC_000002.12:15935084:G:A
- Gene:
- MYCNUT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
9.
rs1490108855 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:15926750
(GRCh38)
2:16066872
(GRCh37)
- Canonical SPDI:
- NC_000002.12:15926749:T:C
- Gene:
- MYCNUT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000019/5
(TOPMED)
- HGVS:
10.
rs1490094643 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:15927739
(GRCh38)
2:16067861
(GRCh37)
- Canonical SPDI:
- NC_000002.12:15927738:G:A
- Gene:
- MYCNUT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
11.
rs1489946981 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 2:15926336
(GRCh38)
2:16066458
(GRCh37)
- Canonical SPDI:
- NC_000002.12:15926335:AA:A
- Gene:
- MYCNUT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
13.
rs1489334643 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:15932453
(GRCh38)
2:16072575
(GRCh37)
- Canonical SPDI:
- NC_000002.12:15932452:T:C
- Gene:
- MYCNUT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
14.
rs1489317374 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 2:15919511
(GRCh38)
2:16059634
(GRCh37)
- Canonical SPDI:
- NC_000002.12:15919510:C:A,NC_000002.12:15919510:C:G
- Gene:
- MYCNUT (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000026/7
(TOPMED)
A=0.000029/4
(GnomAD)
G=0.000035/1
(TOMMO)
- HGVS:
15.
rs1489198256 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:15933143
(GRCh38)
2:16073265
(GRCh37)
- Canonical SPDI:
- NC_000002.12:15933142:C:T
- Gene:
- MYCNUT (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:
16.
rs1489100380 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 2:15929684
(GRCh38)
2:16069806
(GRCh37)
- Canonical SPDI:
- NC_000002.12:15929683:G:T
- Gene:
- MYCNUT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000009/1
(GnomAD)
- HGVS:
17.
rs1488799998 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 2:15921410
(GRCh38)
2:16061532
(GRCh37)
- Canonical SPDI:
- NC_000002.12:15921409:G:A,NC_000002.12:15921409:G:C
- Gene:
- MYCNUT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000036/5
(GnomAD)
A=0.000156/1
(1000Genomes)
- HGVS:
18.
rs1488667850 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 2:15922303
(GRCh38)
2:16062425
(GRCh37)
- Canonical SPDI:
- NC_000002.12:15922302:T:A
- Gene:
- MYCNUT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00031/2
(1000Genomes)
- HGVS:
20.
rs1488140988 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:15925356
(GRCh38)
2:16065478
(GRCh37)
- Canonical SPDI:
- NC_000002.12:15925355:C:T
- Gene:
- MYCNUT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS: