Links from Gene
Items: 1 to 20 of 5706
1.
rs1491420665 has merged into rs373708120 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGTGTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 15:99797862
(GRCh38)
15:100338067
(GRCh37)
- Canonical SPDI:
- NC_000015.10:99797850:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGT,NC_000015.10:99797850:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000015.10:99797850:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000015.10:99797850:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000015.10:99797850:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000015.10:99797850:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:99797850:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:99797850:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:99797850:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:99797850:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:99797850:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:99797850:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:99797850:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:99797850:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:99797850:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:99797850:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:99797850:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:99797850:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:99797850:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:99797850:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- DNM1P46 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGT=0./0
(
ALFA)
TG=0.3025/1515
(1000Genomes)
- HGVS:
NC_000015.10:g.99797852GT[5], NC_000015.10:g.99797852GT[7], NC_000015.10:g.99797852GT[8], NC_000015.10:g.99797852GT[9], NC_000015.10:g.99797852GT[10], NC_000015.10:g.99797852GT[11], NC_000015.10:g.99797852GT[12], NC_000015.10:g.99797852GT[13], NC_000015.10:g.99797852GT[14], NC_000015.10:g.99797852GT[15], NC_000015.10:g.99797852GT[16], NC_000015.10:g.99797852GT[17], NC_000015.10:g.99797852GT[19], NC_000015.10:g.99797852GT[20], NC_000015.10:g.99797852GT[21], NC_000015.10:g.99797852GT[22], NC_000015.10:g.99797852GT[23], NC_000015.10:g.99797852GT[24], NC_000015.10:g.99797852GT[25], NC_000015.10:g.99797852GT[26], NC_000015.9:g.100338057GT[5], NC_000015.9:g.100338057GT[7], NC_000015.9:g.100338057GT[8], NC_000015.9:g.100338057GT[9], NC_000015.9:g.100338057GT[10], NC_000015.9:g.100338057GT[11], NC_000015.9:g.100338057GT[12], NC_000015.9:g.100338057GT[13], NC_000015.9:g.100338057GT[14], NC_000015.9:g.100338057GT[15], NC_000015.9:g.100338057GT[16], NC_000015.9:g.100338057GT[17], NC_000015.9:g.100338057GT[19], NC_000015.9:g.100338057GT[20], NC_000015.9:g.100338057GT[21], NC_000015.9:g.100338057GT[22], NC_000015.9:g.100338057GT[23], NC_000015.9:g.100338057GT[24], NC_000015.9:g.100338057GT[25], NC_000015.9:g.100338057GT[26]
2.
rs1491272013 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 15:99797850
(GRCh38)
15:100338055
(GRCh37)
- Canonical SPDI:
- NC_000015.10:99797849:AT:
- Gene:
- DNM1P46 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00055/9
(
ALFA)
-=0.00039/6
(TOMMO)
-=0.00055/1
(Korea1K)
-=0.01158/877
(GnomAD)
- HGVS:
3.
rs1491230911 has merged into rs140786979 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-,CACA,CACACA
[Show Flanks]
- Chromosome:
- 15:99790776
(GRCh38)
15:100330981
(GRCh37)
- Canonical SPDI:
- NC_000015.10:99790762:ACACACACACACACA:ACACACACACACA,NC_000015.10:99790762:ACACACACACACACA:ACACACACACACACACA,NC_000015.10:99790762:ACACACACACACACA:ACACACACACACACACACA
- Gene:
- DNM1P46 (Varview), LOC124903563 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACA=0.00891/205
(
ALFA)
AC=0.05/2
(GENOME_DK)
AC=0.06132/13
(Vietnamese)
AC=0.115/69
(NorthernSweden)
AC=0.11523/115
(GoNL)
AC=0.1168/585
(1000Genomes)
- HGVS:
NC_000015.10:g.99790764CA[6], NC_000015.10:g.99790764CA[8], NC_000015.10:g.99790764CA[9], NC_000015.9:g.100330969CA[6], NC_000015.9:g.100330969CA[8], NC_000015.9:g.100330969CA[9], NR_003260.1:n.3211GT[6], NR_003260.1:n.3211GT[8], NR_003260.1:n.3211GT[9], NM_194295.1:c.*2376GT[6], NM_194295.1:c.*2376GT[8], NM_194295.1:c.*2376GT[9]
4.
rs1491062853 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 15:99799932
(GRCh38)
15:100340138
(GRCh37)
- Canonical SPDI:
- NC_000015.10:99799932::C
- Gene:
- DNM1P46 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000005/1
(GnomAD_exomes)
- HGVS:
5.
rs1490981675 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 15:99804667
(GRCh38)
15:100344872
(GRCh37)
- Canonical SPDI:
- NC_000015.10:99804666:C:A
- Gene:
- DNM1P46 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
6.
rs1490972823 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:99791771
(GRCh38)
15:100331976
(GRCh37)
- Canonical SPDI:
- NC_000015.10:99791770:G:A
- Gene:
- DNM1P46 (Varview), LOC124903563 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000011/3
(TOPMED)
- HGVS:
7.
rs1490874003 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:99803729
(GRCh38)
15:100343934
(GRCh37)
- Canonical SPDI:
- NC_000015.10:99803728:G:A
- Gene:
- DNM1P46 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
8.
rs1490868429 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 15:99793462
(GRCh38)
15:100333667
(GRCh37)
- Canonical SPDI:
- NC_000015.10:99793461:T:A
- Gene:
- DNM1P46 (Varview), LOC124903563 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
9.
rs1490796301 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 15:99799170
(GRCh38)
15:100339375
(GRCh37)
- Canonical SPDI:
- NC_000015.10:99799169:T:A,NC_000015.10:99799169:T:C
- Gene:
- DNM1P46 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
10.
rs1490670678 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 15:99797948
(GRCh38)
15:100338153
(GRCh37)
- Canonical SPDI:
- NC_000015.10:99797947:A:C
- Gene:
- DNM1P46 (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)
- HGVS:
11.
rs1490622606 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 15:99808747
(GRCh38)
15:100348952
(GRCh37)
- Canonical SPDI:
- NC_000015.10:99808746:A:C
- Gene:
- DNM1P46 (Varview), LOC400464 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000015/2
(GnomAD)
- HGVS:
12.
rs1490614301 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:99798669
(GRCh38)
15:100338874
(GRCh37)
- Canonical SPDI:
- NC_000015.10:99798668:A:G
- Gene:
- DNM1P46 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000019/5
(TOPMED)
- HGVS:
13.
rs1490546282 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:99796261
(GRCh38)
15:100336466
(GRCh37)
- Canonical SPDI:
- NC_000015.10:99796260:G:A
- Gene:
- DNM1P46 (Varview), LOC124903563 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000224/1
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490508654 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:99790921
(GRCh38)
15:100331126
(GRCh37)
- Canonical SPDI:
- NC_000015.10:99790920:G:A
- Gene:
- DNM1P46 (Varview), LOC124903563 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
15.
rs1490493890 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CT
[Show Flanks]
- Chromosome:
- 15:99807571
(GRCh38)
15:100347777
(GRCh37)
- Canonical SPDI:
- NC_000015.10:99807571:T:TCT
- Gene:
- DNM1P46 (Varview), LOC400464 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
TC=0.00007/1
(TOMMO)
- HGVS:
16.
rs1490438227 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:99807469
(GRCh38)
15:100347674
(GRCh37)
- Canonical SPDI:
- NC_000015.10:99807468:C:T
- Gene:
- DNM1P46 (Varview), LOC400464 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00015/20
(GnomAD)
C=0.5/1
(SGDP_PRJ)
- HGVS:
17.
rs1490196018 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:99799160
(GRCh38)
15:100339365
(GRCh37)
- Canonical SPDI:
- NC_000015.10:99799159:G:A
- Gene:
- DNM1P46 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
18.
rs1490153436 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:99792017
(GRCh38)
15:100332222
(GRCh37)
- Canonical SPDI:
- NC_000015.10:99792016:C:T
- Gene:
- DNM1P46 (Varview), LOC124903563 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000009/2
(GnomAD_exomes)
- HGVS:
19.
rs1489843615 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 15:99805894
(GRCh38)
15:100346099
(GRCh37)
- Canonical SPDI:
- NC_000015.10:99805893:G:A,NC_000015.10:99805893:G:C
- Gene:
- DNM1P46 (Varview), LOC400464 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS: