Links from Gene
Items: 1 to 20 of 2090
1.
rs1490790569 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 19:39682730
(GRCh38)
19:40173370
(GRCh37)
- Canonical SPDI:
- NC_000019.10:39682729:GGGG:GGG
- Gene:
- LGALS17A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGG=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
2.
rs1490734395 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:39683631
(GRCh38)
19:40174271
(GRCh37)
- Canonical SPDI:
- NC_000019.10:39683630:G:A
- Gene:
- LGALS17A (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
3.
rs1490515506 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 19:39685653
(GRCh38)
19:40176293
(GRCh37)
- Canonical SPDI:
- NC_000019.10:39685652:G:C
- Gene:
- LGALS17A (Varview)
- Functional Consequence:
- splice_donor_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
4.
rs1489690055 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 19:39681800
(GRCh38)
19:40172440
(GRCh37)
- Canonical SPDI:
- NC_000019.10:39681799:G:C
- Gene:
- LGALS17A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
5.
rs1489634805 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTC>-
[Show Flanks]
- Chromosome:
- 19:39686563
(GRCh38)
19:40177203
(GRCh37)
- Canonical SPDI:
- NC_000019.10:39686559:CTCCTC:CTC
- Gene:
- LGALS17A (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTCCTC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
6.
rs1489602254 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 19:39684490
(GRCh38)
19:40175130
(GRCh37)
- Canonical SPDI:
- NC_000019.10:39684487:CACA:CA
- Gene:
- LGALS17A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CACA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
8.
rs1488480146 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 19:39680852
(GRCh38)
19:40171492
(GRCh37)
- Canonical SPDI:
- NC_000019.10:39680851:A:T
- Gene:
- LGALS17A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
9.
rs1488461775 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:39677733
(GRCh38)
19:40168373
(GRCh37)
- Canonical SPDI:
- NC_000019.10:39677732:G:A
- Gene:
- LGALS17A (Varview)
- Functional Consequence:
- 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)
- HGVS:
10.
rs1488236092 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TGCAG>-
[Show Flanks]
- Chromosome:
- 19:39681622
(GRCh38)
19:40172262
(GRCh37)
- Canonical SPDI:
- NC_000019.10:39681621:TGCAG:
- Gene:
- LGALS17A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000021/3
(GnomAD)
- HGVS:
11.
rs1488115117 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 19:39686214
(GRCh38)
19:40176854
(GRCh37)
- Canonical SPDI:
- NC_000019.10:39686213:C:G
- Gene:
- LGALS17A (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
12.
rs1488094172 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:39683240
(GRCh38)
19:40173880
(GRCh37)
- Canonical SPDI:
- NC_000019.10:39683239:T:C
- Gene:
- LGALS17A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000009/1
(GnomAD)
- HGVS:
13.
rs1486901538 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:39678627
(GRCh38)
19:40169267
(GRCh37)
- Canonical SPDI:
- NC_000019.10:39678626:G:A
- Gene:
- LGALS17A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000142/2
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000036/5
(GnomAD)
- HGVS:
14.
rs1486852218 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 19:39683274
(GRCh38)
19:40173914
(GRCh37)
- Canonical SPDI:
- NC_000019.10:39683273:G:T
- Gene:
- LGALS17A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.00055/9
(
ALFA)
T=0.00179/8
(Estonian)
- HGVS:
15.
rs1486118867 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 19:39680024
(GRCh38)
19:40170664
(GRCh37)
- Canonical SPDI:
- NC_000019.10:39680023:CCC:CC
- Gene:
- LGALS17A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000026/7
(TOPMED)
-=0.000106/2
(TOMMO)
- HGVS:
16.
rs1486016652 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:39684514
(GRCh38)
19:40175154
(GRCh37)
- Canonical SPDI:
- NC_000019.10:39684513:A:G
- Gene:
- LGALS17A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
17.
rs1485666952 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:39680257
(GRCh38)
19:40170897
(GRCh37)
- Canonical SPDI:
- NC_000019.10:39680256:C:T
- Gene:
- LGALS17A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
18.
rs1485612567 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 19:39684160
(GRCh38)
19:40174800
(GRCh37)
- Canonical SPDI:
- NC_000019.10:39684159:A:T
- Gene:
- LGALS17A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000546/1
(Korea1K)
- HGVS:
19.
rs1485524436 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:39678079
(GRCh38)
19:40168719
(GRCh37)
- Canonical SPDI:
- NC_000019.10:39678078:C:T
- Gene:
- LGALS17A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000019/5
(TOPMED)
- HGVS:
20.
rs1485316025 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 19:39680115
(GRCh38)
19:40170755
(GRCh37)
- Canonical SPDI:
- NC_000019.10:39680114:C:A
- Gene:
- LGALS17A (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: