Links from Nucleotide
Items: 1 to 20 of 110
1.
rs1482342770 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:126944928
(GRCh38)
11:126814824
(GRCh37)
- Canonical SPDI:
- NC_000011.10:126944927:G:A
- Gene:
- KIRREL3 (Varview), KIRREL3-AS2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,non_coding_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:
2.
rs1481153395 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 11:126944452
(GRCh38)
11:126814348
(GRCh37)
- Canonical SPDI:
- NC_000011.10:126944451:G:C
- Gene:
- KIRREL3 (Varview), KIRREL3-AS2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000216/4
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000029/4
(GnomAD)
C=0.000893/4
(Estonian)
- HGVS:
3.
rs1479458414 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:126944419
(GRCh38)
11:126814315
(GRCh37)
- Canonical SPDI:
- NC_000011.10:126944418:C:T
- Gene:
- KIRREL3 (Varview), KIRREL3-AS2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
4.
rs1475262898 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 11:126944981
(GRCh38)
11:126814877
(GRCh37)
- Canonical SPDI:
- NC_000011.10:126944980:A:T
- Gene:
- KIRREL3 (Varview), KIRREL3-AS2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
5.
rs1474944465 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 11:126940807
(GRCh38)
11:126810704
(GRCh37)
- Canonical SPDI:
- NC_000011.10:126940807:C:CC
- Gene:
- KIRREL3 (Varview), KIRREL3-AS2 (Varview), LOC105369559 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
6.
rs1471027617 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CCCT
[Show Flanks]
- Chromosome:
- 11:126940757
(GRCh38)
11:126810654
(GRCh37)
- Canonical SPDI:
- NC_000011.10:126940757:TCCCT:TCCCTCCCT
- Gene:
- KIRREL3 (Varview), KIRREL3-AS2 (Varview), LOC105369559 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCCCTCCCT=0./0
(
ALFA)
TCCC=0.000011/3
(TOPMED)
TCCC=0.000637/11
(TOMMO)
- HGVS:
7.
rs1467125843 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 11:126940907
(GRCh38)
11:126810803
(GRCh37)
- Canonical SPDI:
- NC_000011.10:126940906:T:A,NC_000011.10:126940906:T:G
- Gene:
- KIRREL3 (Varview), KIRREL3-AS2 (Varview), LOC105369559 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
8.
rs1457275247 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:126944946
(GRCh38)
11:126814842
(GRCh37)
- Canonical SPDI:
- NC_000011.10:126944945:T:C
- Gene:
- KIRREL3 (Varview), KIRREL3-AS2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000019/5
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
9.
rs1444806597 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 11:126940865
(GRCh38)
11:126810761
(GRCh37)
- Canonical SPDI:
- NC_000011.10:126940864:T:A
- Gene:
- KIRREL3 (Varview), KIRREL3-AS2 (Varview), LOC105369559 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
11.
rs1431316448 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:126940790
(GRCh38)
11:126810686
(GRCh37)
- Canonical SPDI:
- NC_000011.10:126940789:T:C
- Gene:
- KIRREL3 (Varview), KIRREL3-AS2 (Varview), LOC105369559 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
12.
rs1426572307 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 11:126944341
(GRCh38)
11:126814237
(GRCh37)
- Canonical SPDI:
- NC_000011.10:126944340:G:C
- Gene:
- KIRREL3 (Varview), KIRREL3-AS2 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
13.
rs1422311313 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:126945024
(GRCh38)
11:126814920
(GRCh37)
- Canonical SPDI:
- NC_000011.10:126945023:C:G
- Gene:
- KIRREL3 (Varview), KIRREL3-AS2 (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=0.000014/2
(GnomAD)
G=0.000019/5
(TOPMED)
- HGVS:
14.
rs1406914007 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:126940767
(GRCh38)
11:126810663
(GRCh37)
- Canonical SPDI:
- NC_000011.10:126940766:C:G
- Gene:
- KIRREL3 (Varview), KIRREL3-AS2 (Varview), LOC105369559 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
16.
rs1400213913 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 11:126944990
(GRCh38)
11:126814886
(GRCh37)
- Canonical SPDI:
- NC_000011.10:126944989:A:C
- Gene:
- KIRREL3 (Varview), KIRREL3-AS2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.00003/8
(TOPMED)
- HGVS:
17.
rs1397277463 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 11:126944423
(GRCh38)
11:126814319
(GRCh37)
- Canonical SPDI:
- NC_000011.10:126944422:C:A,NC_000011.10:126944422:C:G,NC_000011.10:126944422:C:T
- Gene:
- KIRREL3 (Varview), KIRREL3-AS2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000011.10:g.126944423C>A, NC_000011.10:g.126944423C>G, NC_000011.10:g.126944423C>T, NC_000011.9:g.126814319C>A, NC_000011.9:g.126814319C>G, NC_000011.9:g.126814319C>T, NG_012971.2:g.61447G>T, NG_012971.2:g.61447G>C, NG_012971.2:g.61447G>A, NG_012971.1:g.61448G>T, NG_012971.1:g.61448G>C, NG_012971.1:g.61448G>A, NR_046986.1:n.287C>A, NR_046986.1:n.287C>G, NR_046986.1:n.287C>T
18.
rs1393278557 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 11:126944415
(GRCh38)
11:126814311
(GRCh37)
- Canonical SPDI:
- NC_000011.10:126944414:T:A,NC_000011.10:126944414:T:C
- Gene:
- KIRREL3 (Varview), KIRREL3-AS2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
A=0.000035/1
(TOMMO)
- HGVS:
19.
rs1388087035 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:126940856
(GRCh38)
11:126810752
(GRCh37)
- Canonical SPDI:
- NC_000011.10:126940855:A:G
- Gene:
- KIRREL3 (Varview), KIRREL3-AS2 (Varview), LOC105369559 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_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:
20.
rs1383754332 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 11:126940906
(GRCh38)
11:126810802
(GRCh37)
- Canonical SPDI:
- NC_000011.10:126940905:A:G,NC_000011.10:126940905:A:T
- Gene:
- KIRREL3 (Varview), KIRREL3-AS2 (Varview), LOC105369559 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS: