Links from Nucleotide
Items: 1 to 20 of 321
1.
rs1488845065 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGAAAGAAAGAGAAAGAAAGAA>-
[Show Flanks]
- Chromosome:
- 1:159976951
(GRCh38)
1:159946741
(GRCh37)
- Canonical SPDI:
- NC_000001.11:159976938:AGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAA:AGAAAGAAAGAA
- Gene:
- SLAMF9 (Varview), LINC01133 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAAAGAAAGAA=0./0
(
ALFA)
-=0.00004/0
(TOMMO)
-=0.00332/16
(GnomAD)
- HGVS:
2.
rs1486294107 has merged into rs139235417 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAGAAAGAAAGA>-,AAGAAAGA,AAGAAAGAAAGAAAGA,AAGAAAGAAAGAAAGAAAGA
[Show Flanks]
- Chromosome:
- 1:159976996
(GRCh38)
1:159946786
(GRCh37)
- Canonical SPDI:
- NC_000001.11:159976989:GAAAGAAAGAAAGAAAGA:GAAAGA,NC_000001.11:159976989:GAAAGAAAGAAAGAAAGA:GAAAGAAAGAAAGA,NC_000001.11:159976989:GAAAGAAAGAAAGAAAGA:GAAAGAAAGAAAGAAAGAAAGA,NC_000001.11:159976989:GAAAGAAAGAAAGAAAGA:GAAAGAAAGAAAGAAAGAAAGAAAGA
- Gene:
- SLAMF9 (Varview), LINC01133 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAAAGAAAGAAAGA=0./0
(
ALFA)
-=0.1/4
(GENOME_DK)
-=0.2155/78
(NorthernSweden)
-=0.22/2026
(TOMMO)
GAAA=0.4395/392
(Korea1K)
- HGVS:
NC_000001.11:g.159976992AAGA[1], NC_000001.11:g.159976992AAGA[3], NC_000001.11:g.159976992AAGA[5], NC_000001.11:g.159976992AAGA[6], NC_000001.10:g.159946782AAGA[1], NC_000001.10:g.159946782AAGA[3], NC_000001.10:g.159946782AAGA[5], NC_000001.10:g.159946782AAGA[6], NR_038849.1:n.531AAGA[1], NR_038849.1:n.531AAGA[3], NR_038849.1:n.531AAGA[5], NR_038849.1:n.531AAGA[6]
3.
rs1484787158 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:159978703
(GRCh38)
1:159948493
(GRCh37)
- Canonical SPDI:
- NC_000001.11:159978702:A:G
- Gene:
- SLAMF9 (Varview), LINC01133 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
4.
rs1484770989 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:159977005
(GRCh38)
1:159946795
(GRCh37)
- Canonical SPDI:
- NC_000001.11:159977004:A:G
- Gene:
- SLAMF9 (Varview), LINC01133 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.00011/3
(TOMMO)
- HGVS:
5.
rs1484106766 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:159976824
(GRCh38)
1:159946614
(GRCh37)
- Canonical SPDI:
- NC_000001.11:159976823:C:T
- Gene:
- SLAMF9 (Varview), LINC01133 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.001566/7
(
ALFA)
T=0.000022/3
(GnomAD)
T=0.001339/6
(Estonian)
- HGVS:
6.
rs1480993828 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 1:159976944
(GRCh38)
1:159946734
(GRCh37)
- Canonical SPDI:
- NC_000001.11:159976942:AGA:A
- Gene:
- SLAMF9 (Varview), LINC01133 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.00081/4
(GnomAD)
- HGVS:
9.
rs1474044408 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 1:159961298
(GRCh38)
1:159931088
(GRCh37)
- Canonical SPDI:
- NC_000001.11:159961297:T:A
- Gene:
- SLAMF9 (Varview), LINC01133 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,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:
10.
rs1473833903 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:159976645
(GRCh38)
1:159946435
(GRCh37)
- Canonical SPDI:
- NC_000001.11:159976644:G:A
- Gene:
- SLAMF9 (Varview), LINC01133 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
11.
rs1473646419 has merged into rs1258051367 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA,AAA
[Show Flanks]
- Chromosome:
- 1:159976921
(GRCh38)
1:159946711
(GRCh37)
- Canonical SPDI:
- NC_000001.11:159976920:AAA:AA,NC_000001.11:159976920:AAA:AAAA,NC_000001.11:159976920:AAA:AAAAA
- Gene:
- SLAMF9 (Varview), LINC01133 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAA=0./0
(
ALFA)
-=0.00167/1
(GnomAD)
- HGVS:
12.
rs1472537919 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:159978748
(GRCh38)
1:159948538
(GRCh37)
- Canonical SPDI:
- NC_000001.11:159978747:C:T
- Gene:
- SLAMF9 (Varview), LINC01133 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
13.
rs1471001566 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:159961391
(GRCh38)
1:159931181
(GRCh37)
- Canonical SPDI:
- NC_000001.11:159961390:A:G
- Gene:
- SLAMF9 (Varview), LINC01133 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.0055/10
(Korea1K)
- HGVS:
15.
rs1469060673 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:159976859
(GRCh38)
1:159946649
(GRCh37)
- Canonical SPDI:
- NC_000001.11:159976858:A:G
- Gene:
- SLAMF9 (Varview), LINC01133 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
16.
rs1467721794 has merged into rs1250722837 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA
[Show Flanks]
- Chromosome:
- 1:159976881
(GRCh38)
1:159946671
(GRCh37)
- Canonical SPDI:
- NC_000001.11:159976880:AAAAAAAAA:AAAAAAAA,NC_000001.11:159976880:AAAAAAAAA:AAAAAAAAAA
- Gene:
- SLAMF9 (Varview), LINC01133 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.00218/4
(Korea1K)
- HGVS:
18.
rs1462967778 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:159978737
(GRCh38)
1:159948527
(GRCh37)
- Canonical SPDI:
- NC_000001.11:159978736:T:G
- Gene:
- SLAMF9 (Varview), LINC01133 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,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:
20.
rs1459959447 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 1:159961387
(GRCh38)
1:159931177
(GRCh37)
- Canonical SPDI:
- NC_000001.11:159961386:C:
- Gene:
- SLAMF9 (Varview), LINC01133 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000071/1
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS: