Links from Nucleotide
Items: 1 to 20 of 93
1.
rs1489594424 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 11:126681884
(GRCh38)
11:126551779
(GRCh37)
- Canonical SPDI:
- NC_000011.10:126681883:T:G
- Gene:
- KIRREL3 (Varview), LOC101929427 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000014/2
(GnomAD)
G=0.000023/3
(GnomAD_exomes)
G=0.001092/2
(Korea1K)
G=0.001203/20
(TOMMO)
G=0.001711/5
(KOREAN)
- HGVS:
3.
rs1481592185 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:126681965
(GRCh38)
11:126551860
(GRCh37)
- Canonical SPDI:
- NC_000011.10:126681964:G:A
- Gene:
- KIRREL3 (Varview), LOC101929427 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
4.
rs1475291751 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:126681943
(GRCh38)
11:126551838
(GRCh37)
- Canonical SPDI:
- NC_000011.10:126681942:A:G
- Gene:
- KIRREL3 (Varview), LOC101929427 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,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:
5.
rs1467057211 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 11:126681885
(GRCh38)
11:126551780
(GRCh37)
- Canonical SPDI:
- NC_000011.10:126681884:G:A,NC_000011.10:126681884:G:T
- Gene:
- KIRREL3 (Varview), LOC101929427 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000008/1
(GnomAD_exomes)
A=0.000008/2
(TOPMED)
A=0.000156/1
(1000Genomes)
- HGVS:
NC_000011.10:g.126681885G>A, NC_000011.10:g.126681885G>T, NC_000011.9:g.126551780G>A, NC_000011.9:g.126551780G>T, NG_012971.2:g.323985C>T, NG_012971.2:g.323985C>A, NG_012971.1:g.323987C>T, NG_012971.1:g.323987C>A, NR_120532.1:n.255G>A, NR_120532.1:n.255G>T, NR_120533.1:n.189G>A, NR_120533.1:n.189G>T
6.
rs1465047499 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:126681790
(GRCh38)
11:126551685
(GRCh37)
- Canonical SPDI:
- NC_000011.10:126681789:T:C
- Gene:
- KIRREL3 (Varview), LOC101929427 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000048/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
C=0.000009/1
(GnomAD_exomes)
- HGVS:
7.
rs1459150338 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 11:126681929
(GRCh38)
11:126551824
(GRCh37)
- Canonical SPDI:
- NC_000011.10:126681928:A:T
- Gene:
- KIRREL3 (Varview), LOC101929427 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000008/1
(GnomAD_exomes)
- HGVS:
8.
rs1458116973 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:126681981
(GRCh38)
11:126551876
(GRCh37)
- Canonical SPDI:
- NC_000011.10:126681980:G:A
- Gene:
- KIRREL3 (Varview), LOC101929427 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.000007/1
(GnomAD)
- HGVS:
9.
rs1457574565 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:126656142
(GRCh38)
11:126526037
(GRCh37)
- Canonical SPDI:
- NC_000011.10:126656141:C:T
- Gene:
- KIRREL3 (Varview), LOC101929427 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000008/1
(GnomAD_exomes)
- HGVS:
10.
rs1456245749 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:126681804
(GRCh38)
11:126551699
(GRCh37)
- Canonical SPDI:
- NC_000011.10:126681803:T:C
- Gene:
- KIRREL3 (Varview), LOC101929427 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000017/2
(GnomAD_exomes)
- HGVS:
11.
rs1453049196 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:126681825
(GRCh38)
11:126551720
(GRCh37)
- Canonical SPDI:
- NC_000011.10:126681824:A:G
- Gene:
- KIRREL3 (Varview), LOC101929427 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
12.
rs1452812562 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:126656168
(GRCh38)
11:126526063
(GRCh37)
- Canonical SPDI:
- NC_000011.10:126656167:G:A
- Gene:
- KIRREL3 (Varview), LOC101929427 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000008/1
(GnomAD_exomes)
- HGVS:
13.
rs1447795758 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:126682098
(GRCh38)
11:126551993
(GRCh37)
- Canonical SPDI:
- NC_000011.10:126682097:C:T
- Gene:
- KIRREL3 (Varview), LOC101929427 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
15.
rs1442108631 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:126682086
(GRCh38)
11:126551981
(GRCh37)
- Canonical SPDI:
- NC_000011.10:126682085:A:G
- Gene:
- KIRREL3 (Varview), LOC101929427 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_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.
rs1434973121 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 11:126681783
(GRCh38)
11:126551678
(GRCh37)
- Canonical SPDI:
- NC_000011.10:126681782:G:C,NC_000011.10:126681782:G:T
- Gene:
- KIRREL3 (Varview), LOC101929427 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
T=0.00001/1
(GnomAD_exomes)
C=0.000035/1
(TOMMO)
- HGVS:
NC_000011.10:g.126681783G>C, NC_000011.10:g.126681783G>T, NC_000011.9:g.126551678G>C, NC_000011.9:g.126551678G>T, NG_012971.2:g.324087C>G, NG_012971.2:g.324087C>A, NG_012971.1:g.324089C>G, NG_012971.1:g.324089C>A, NR_120532.1:n.153G>C, NR_120532.1:n.153G>T, NR_120533.1:n.87G>C, NR_120533.1:n.87G>T
17.
rs1433758585 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 11:126656123
(GRCh38)
11:126526018
(GRCh37)
- Canonical SPDI:
- NC_000011.10:126656122:C:G,NC_000011.10:126656122:C:T
- Gene:
- KIRREL3 (Varview), LOC101929427 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
19.
rs1400121617 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:126681935
(GRCh38)
11:126551830
(GRCh37)
- Canonical SPDI:
- NC_000011.10:126681934:T:C
- Gene:
- KIRREL3 (Varview), LOC101929427 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/1
(GnomAD_exomes)
- HGVS:
20.
rs1398564217 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 11:126682093
(GRCh38)
11:126551988
(GRCh37)
- Canonical SPDI:
- NC_000011.10:126682092:T:G
- Gene:
- KIRREL3 (Varview), LOC101929427 (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: