Links from Gene
Items: 1 to 20 of 1000
1.
rs1489830995 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:23790800
(GRCh38)
1:24117290
(GRCh37)
- Canonical SPDI:
- NC_000001.11:23790799:G:A
- Gene:
- LYPLA2 (Varview), LOC105376860 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000043/6
(GnomAD)
- HGVS:
2.
rs1489406334 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:23789734
(GRCh38)
1:24116224
(GRCh37)
- Canonical SPDI:
- NC_000001.11:23789733:C:A
- Gene:
- LYPLA2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
3.
rs1489137333 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:23792234
(GRCh38)
1:24118724
(GRCh37)
- Canonical SPDI:
- NC_000001.11:23792233:C:T
- Gene:
- LYPLA2 (Varview), LOC105376860 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
4.
rs1488300172 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:23793640
(GRCh38)
1:24120130
(GRCh37)
- Canonical SPDI:
- NC_000001.11:23793639:G:A
- Gene:
- LYPLA2 (Varview), LOC105376860 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
5.
rs1486756292 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 1:23794374
(GRCh38)
1:24120864
(GRCh37)
- Canonical SPDI:
- NC_000001.11:23794373:G:A,NC_000001.11:23794373:G:C,NC_000001.11:23794373:G:T
- Gene:
- LYPLA2 (Varview), LOC105376860 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
- HGVS:
6.
rs1485932575 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AATA
[Show Flanks]
- Chromosome:
- 1:23795627
(GRCh38)
1:24122118
(GRCh37)
- Canonical SPDI:
- NC_000001.11:23795627:TAAATA:TAAATAAATA
- Gene:
- GALE (Varview), LYPLA2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TAAATAAATA=0.000071/1
(
ALFA)
TAAA=0.000008/2
(TOPMED)
TAAA=0.000014/2
(GnomAD)
- HGVS:
7.
rs1485881046 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 1:23793499
(GRCh38)
1:24119989
(GRCh37)
- Canonical SPDI:
- NC_000001.11:23793498:G:A,NC_000001.11:23793498:G:T
- Gene:
- LYPLA2 (Varview), LOC105376860 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
8.
rs1485463187 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:23789413
(GRCh38)
1:24115903
(GRCh37)
- Canonical SPDI:
- NC_000001.11:23789412:A:T
- Gene:
- LYPLA2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
10.
rs1484576120 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 1:23791324
(GRCh38)
1:24117814
(GRCh37)
- Canonical SPDI:
- NC_000001.11:23791323:A:G,NC_000001.11:23791323:A:T
- Gene:
- LYPLA2 (Varview), LOC105376860 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00202/24
(
ALFA)
T=0.00005/1
(GnomAD)
G=0.0395/114
(KOREAN)
- HGVS:
11.
rs1484556504 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,T
[Show Flanks]
- Chromosome:
- 1:23791381
(GRCh38)
1:24117871
(GRCh37)
- Canonical SPDI:
- NC_000001.11:23791380:A:C,NC_000001.11:23791380:A:T
- Gene:
- LYPLA2 (Varview), LOC105376860 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
T=0.000142/2
(TOMMO)
T=0.000343/1
(KOREAN)
- HGVS:
12.
rs1484516766 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:23795873
(GRCh38)
1:24122363
(GRCh37)
- Canonical SPDI:
- NC_000001.11:23795872:C:T
- Gene:
- GALE (Varview), LYPLA2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
13.
rs1484469413 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:23790234
(GRCh38)
1:24116724
(GRCh37)
- Canonical SPDI:
- NC_000001.11:23790233:A:G
- Gene:
- LYPLA2 (Varview), LOC105376860 (Varview)
- Functional Consequence:
- 500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
14.
rs1483582700 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:23793699
(GRCh38)
1:24120189
(GRCh37)
- Canonical SPDI:
- NC_000001.11:23793698:C:T
- Gene:
- LYPLA2 (Varview), LOC105376860 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
15.
rs1483533854 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:23792479
(GRCh38)
1:24118969
(GRCh37)
- Canonical SPDI:
- NC_000001.11:23792478:T:G
- Gene:
- LYPLA2 (Varview), LOC105376860 (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)
- HGVS:
16.
rs1483173127 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:23793100
(GRCh38)
1:24119590
(GRCh37)
- Canonical SPDI:
- NC_000001.11:23793099:A:G
- Gene:
- LYPLA2 (Varview), LOC105376860 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
17.
rs1482922413 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 1:23795881
(GRCh38)
1:24122371
(GRCh37)
- Canonical SPDI:
- NC_000001.11:23795880:T:C,NC_000001.11:23795880:T:G
- Gene:
- GALE (Varview), LYPLA2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
NC_000001.11:g.23795881T>C, NC_000001.11:g.23795881T>G, NC_000001.10:g.24122371T>C, NC_000001.10:g.24122371T>G, NG_007068.1:g.9924A>G, NG_007068.1:g.9924A>C, NM_000403.4:c.*68A>G, NM_000403.4:c.*68A>C, NM_000403.3:c.*68A>G, NM_000403.3:c.*68A>C, NM_001127621.2:c.*68A>G, NM_001127621.2:c.*68A>C, NM_001127621.1:c.*68A>G, NM_001127621.1:c.*68A>C, NM_001008216.2:c.*68A>G, NM_001008216.2:c.*68A>C, NM_001008216.1:c.*68A>G, NM_001008216.1:c.*68A>C
18.
rs1482897963 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:23792809
(GRCh38)
1:24119299
(GRCh37)
- Canonical SPDI:
- NC_000001.11:23792808:G:A
- Gene:
- LYPLA2 (Varview), LOC105376860 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000004/1
(TOPMED)
A=0.000035/1
(TOMMO)
- HGVS:
19.
rs1482448861 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:23794023
(GRCh38)
1:24120513
(GRCh37)
- Canonical SPDI:
- NC_000001.11:23794022:T:C
- Gene:
- LYPLA2 (Varview), LOC105376860 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
20.
rs1481919609 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:23789713
(GRCh38)
1:24116203
(GRCh37)
- Canonical SPDI:
- NC_000001.11:23789712:T:G
- Gene:
- LYPLA2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000049/13
(TOPMED)
G=0.00005/7
(GnomAD)
G=0.000156/1
(1000Genomes)
G=0.000342/1
(KOREAN)
G=0.000546/1
(Korea1K)
G=0.000955/16
(TOMMO)
- HGVS: