Links from Gene
Items: 1 to 20 of 1000
2.
rs1490974681 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:43854786
(GRCh38)
17:41932154
(GRCh37)
- Canonical SPDI:
- NC_000017.11:43854785:T:C
- Gene:
- CD300LG (Varview), LOC107985077 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
3.
rs1490703026 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 17:43863263
(GRCh38)
17:41940631
(GRCh37)
- Canonical SPDI:
- NC_000017.11:43863262:C:A,NC_000017.11:43863262:C:T
- Gene:
- CD300LG (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000017.11:g.43863263C>A, NC_000017.11:g.43863263C>T, NC_000017.10:g.41940631C>A, NC_000017.10:g.41940631C>T, XM_006721721.4:c.*1352C>A, XM_006721721.4:c.*1352C>T, XM_006721721.3:c.*1352C>A, XM_006721721.3:c.*1352C>T, XM_006721721.2:c.*1352C>A, XM_006721721.2:c.*1352C>T, XM_006721722.4:c.*1352C>A, XM_006721722.4:c.*1352C>T, XM_006721722.3:c.*1352C>A, XM_006721722.3:c.*1352C>T, XM_006721722.2:c.*1352C>A, XM_006721722.2:c.*1352C>T, NM_145273.4:c.*1352C>A, NM_145273.4:c.*1352C>T, NM_145273.3:c.*1352C>A, NM_145273.3:c.*1352C>T, XM_005257075.4:c.*1352C>A, XM_005257075.4:c.*1352C>T, XM_005257075.3:c.*1352C>A, XM_005257075.3:c.*1352C>T, XM_005257075.2:c.*1352C>A, XM_005257075.2:c.*1352C>T, XM_005257076.4:c.*1352C>A, XM_005257076.4:c.*1352C>T, XM_005257076.3:c.*1352C>A, XM_005257076.3:c.*1352C>T, XM_005257076.2:c.*1352C>A, XM_005257076.2:c.*1352C>T, XM_017024235.3:c.*1352C>A, XM_017024235.3:c.*1352C>T, NM_001411122.1:c.*1352C>A, NM_001411122.1:c.*1352C>T
4.
rs1490427899 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:43853793
(GRCh38)
17:41931161
(GRCh37)
- Canonical SPDI:
- NC_000017.11:43853792:T:C
- Gene:
- CD300LG (Varview), LOC107985077 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000066/1
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
5.
rs1490143579 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:43845479
(GRCh38)
17:41922847
(GRCh37)
- Canonical SPDI:
- NC_000017.11:43845478:A:G
- Gene:
- CD300LG (Varview), LOC107984979 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
7.
rs1489979715 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:43848539
(GRCh38)
17:41925907
(GRCh37)
- Canonical SPDI:
- NC_000017.11:43848538:A:G
- Gene:
- CD300LG (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
8.
rs1489962824 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:43862344
(GRCh38)
17:41939712
(GRCh37)
- Canonical SPDI:
- NC_000017.11:43862343:C:T
- Gene:
- CD300LG (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
NC_000017.11:g.43862344C>T, NC_000017.10:g.41939712C>T, XM_006721721.4:c.*433C>T, XM_006721721.3:c.*433C>T, XM_006721721.2:c.*433C>T, XM_006721721.1:c.*433C>T, XM_006721722.4:c.*433C>T, XM_006721722.3:c.*433C>T, XM_006721722.2:c.*433C>T, XM_006721722.1:c.*433C>T, NM_145273.4:c.*433C>T, NM_145273.3:c.*433C>T, XM_005257075.4:c.*433C>T, XM_005257075.3:c.*433C>T, XM_005257075.2:c.*433C>T, XM_005257075.1:c.*433C>T, XM_005257076.4:c.*433C>T, XM_005257076.3:c.*433C>T, XM_005257076.2:c.*433C>T, XM_005257076.1:c.*433C>T, XM_017024235.3:c.*433C>T, NM_001411122.1:c.*433C>T
9.
rs1489666848 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:43846522
(GRCh38)
17:41923890
(GRCh37)
- Canonical SPDI:
- NC_000017.11:43846521:C:T
- Gene:
- CD300LG (Varview), LOC107984979 (Varview)
- Functional Consequence:
- downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
10.
rs1489559198 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 17:43856955
(GRCh38)
17:41934323
(GRCh37)
- Canonical SPDI:
- NC_000017.11:43856954:G:C
- Gene:
- CD300LG (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
- HGVS:
11.
rs1489369786 has merged into rs1191783008 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAAG>-,GAAGGAAG
[Show Flanks]
- Chromosome:
- 17:43860973
(GRCh38)
17:41938341
(GRCh37)
- Canonical SPDI:
- NC_000017.11:43860962:AGGAAGGAAGGAAG:AGGAAGGAAG,NC_000017.11:43860962:AGGAAGGAAGGAAG:AGGAAGGAAGGAAGGAAG
- Gene:
- CD300LG (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGGAAGGAAGGAAGGAAG=0./0
(
ALFA)
AGGA=0.000007/1
(GnomAD)
AGGA=0.000015/4
(TOPMED)
- HGVS:
12.
rs1489297857 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:43859722
(GRCh38)
17:41937090
(GRCh37)
- Canonical SPDI:
- NC_000017.11:43859721:C:T
- Gene:
- CD300LG (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
13.
rs1489259353 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:43852332
(GRCh38)
17:41929700
(GRCh37)
- Canonical SPDI:
- NC_000017.11:43852331:A:G
- Gene:
- CD300LG (Varview), LOC107985077 (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)
G=0.000156/1
(1000Genomes)
- HGVS:
14.
rs1489248231 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 17:43851709
(GRCh38)
17:41929077
(GRCh37)
- Canonical SPDI:
- NC_000017.11:43851708:C:G,NC_000017.11:43851708:C:T
- Gene:
- CD300LG (Varview), LOC107985077 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000084/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
15.
rs1489156391 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 17:43851627
(GRCh38)
17:41928995
(GRCh37)
- Canonical SPDI:
- NC_000017.11:43851626:A:C
- Gene:
- CD300LG (Varview), LOC107985077 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
16.
rs1488778747 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:43849855
(GRCh38)
17:41927223
(GRCh37)
- Canonical SPDI:
- NC_000017.11:43849854:C:T
- Gene:
- CD300LG (Varview), LOC107985077 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.0013/6
(
ALFA)
T=0.0011/5
(Estonian)
- HGVS:
17.
rs1488318231 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 17:43859229
(GRCh38)
17:41936597
(GRCh37)
- Canonical SPDI:
- NC_000017.11:43859228:A:T
- Gene:
- CD300LG (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
18.
rs1488101279 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:43847896
(GRCh38)
17:41925264
(GRCh37)
- Canonical SPDI:
- NC_000017.11:43847895:A:G
- Gene:
- CD300LG (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000224/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000223/1
(Estonian)
- HGVS:
20.
rs1487658251 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 17:43860188
(GRCh38)
17:41937556
(GRCh37)
- Canonical SPDI:
- NC_000017.11:43860187:C:G
- Gene:
- CD300LG (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS: