Links from Gene
Items: 1 to 20 of 1509
1.
rs1491469120 has merged into rs75277676 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT
[Show Flanks]
- Chromosome:
- 6:52149709
(GRCh38)
6:52014507
(GRCh37)
- Canonical SPDI:
- NC_000006.12:52149708:TTTTTTTT:TTTTTTT,NC_000006.12:52149708:TTTTTTTT:TTTTTTTTT
- Gene:
- LINCMD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTT=0.012138/183
(
ALFA)
-=0.000142/2
(TOMMO)
-=0.031387/157
(1000Genomes)
-=0.035/21
(NorthernSweden)
-=0.041536/186
(Estonian)
-=0.044826/11865
(TOPMED)
-=0.069138/69
(GoNL)
-=0.1/4
(GENOME_DK)
- HGVS:
2.
rs1490914585 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 6:52151789
(GRCh38)
6:52016587
(GRCh37)
- Canonical SPDI:
- NC_000006.12:52151788:T:
- Gene:
- LINCMD1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
4.
rs1490648275 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 6:52148872
(GRCh38)
6:52013670
(GRCh37)
- Canonical SPDI:
- NC_000006.12:52148871:A:T
- Gene:
- MIR133B (Varview), LINCMD1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
5.
rs1490621981 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:52152265
(GRCh38)
6:52017063
(GRCh37)
- Canonical SPDI:
- NC_000006.12:52152264:G:A
- Gene:
- LINCMD1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
7.
rs1489855818 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 6:52147547
(GRCh38)
6:52012345
(GRCh37)
- Canonical SPDI:
- NC_000006.12:52147546:G:T
- Gene:
- MIR133B (Varview), LINCMD1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000043/6
(GnomAD)
- HGVS:
8.
rs1489774665 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 6:52149791
(GRCh38)
6:52014589
(GRCh37)
- Canonical SPDI:
- NC_000006.12:52149790:T:G
- Gene:
- LINCMD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000108/2
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000015/4
(TOPMED)
G=0.000223/1
(Estonian)
- HGVS:
9.
rs1489506835 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 6:52150833
(GRCh38)
6:52015631
(GRCh37)
- Canonical SPDI:
- NC_000006.12:52150832:T:A
- Gene:
- LINCMD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
11.
rs1487699127 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:52146626
(GRCh38)
6:52011424
(GRCh37)
- Canonical SPDI:
- NC_000006.12:52146625:A:G
- Gene:
- LINCMD1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
12.
rs1487632450 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:52151901
(GRCh38)
6:52016699
(GRCh37)
- Canonical SPDI:
- NC_000006.12:52151900:G:A
- Gene:
- LINCMD1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
13.
rs1487553374 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:52149930
(GRCh38)
6:52014728
(GRCh37)
- Canonical SPDI:
- NC_000006.12:52149929:A:G
- Gene:
- LINCMD1 (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)
- HGVS:
14.
rs1487542454 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:52152636
(GRCh38)
6:52017434
(GRCh37)
- Canonical SPDI:
- NC_000006.12:52152635:C:T
- Gene:
- LINCMD1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
16.
rs1486612249 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:52152080
(GRCh38)
6:52016878
(GRCh37)
- Canonical SPDI:
- NC_000006.12:52152079:G:A
- Gene:
- LINCMD1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.00386/63
(
ALFA)
A=0.02772/81
(KOREAN)
- HGVS:
17.
rs1486539724 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 6:52147348
(GRCh38)
6:52012146
(GRCh37)
- Canonical SPDI:
- NC_000006.12:52147347:A:C
- Gene:
- MIR133B (Varview), LINCMD1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
18.
rs1486398386 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TGTT>-
[Show Flanks]
- Chromosome:
- 6:52148545
(GRCh38)
6:52013343
(GRCh37)
- Canonical SPDI:
- NC_000006.12:52148544:TGTT:
- Gene:
- MIR133B (Varview), LINCMD1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
19.
rs1485328457 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:52147750
(GRCh38)
6:52012548
(GRCh37)
- Canonical SPDI:
- NC_000006.12:52147749:T:C
- Gene:
- MIR133B (Varview), LINCMD1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
20.
rs1484712256 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 6:52152148
(GRCh38)
6:52016946
(GRCh37)
- Canonical SPDI:
- NC_000006.12:52152147:G:T
- Gene:
- LINCMD1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS: