Links from Gene
Items: 1 to 20 of 1167
1.
rs1491385821 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 4:20390760
(GRCh38)
4:20392384
(GRCh37)
- Canonical SPDI:
- NC_000004.12:20390760::G
- Gene:
- SLIT2 (Varview), SLIT2-IT1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.00008/1
(
ALFA)
G=0.00014/10
(GnomAD)
- HGVS:
3.
rs1491157466 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 4:20390771
(GRCh38)
4:20392394
(GRCh37)
- Canonical SPDI:
- NC_000004.12:20390770:TA:
- Gene:
- SLIT2 (Varview), SLIT2-IT1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00143/17
(
ALFA)
-=0.00352/2
(NorthernSweden)
-=0.0047/341
(GnomAD)
-=0.01295/23
(Korea1K)
-=0.01907/308
(TOMMO)
- HGVS:
4.
rs1490357848 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:20393013
(GRCh38)
4:20394636
(GRCh37)
- Canonical SPDI:
- NC_000004.12:20393012:T:C
- Gene:
- SLIT2 (Varview), SLIT2-IT1 (Varview)
- Functional Consequence:
- intron_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:
5.
rs1489869819 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 4:20393426
(GRCh38)
4:20395049
(GRCh37)
- Canonical SPDI:
- NC_000004.12:20393425:C:G,NC_000004.12:20393425:C:T
- Gene:
- SLIT2 (Varview), SLIT2-IT1 (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=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
6.
rs1489191489 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 4:20391232
(GRCh38)
4:20392855
(GRCh37)
- Canonical SPDI:
- NC_000004.12:20391231:A:C,NC_000004.12:20391231:A:G
- Gene:
- SLIT2 (Varview), SLIT2-IT1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
8.
rs1488968430 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 4:20392076
(GRCh38)
4:20393699
(GRCh37)
- Canonical SPDI:
- NC_000004.12:20392075:G:C
- Gene:
- SLIT2 (Varview), SLIT2-IT1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
10.
rs1488701876 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AAAAT>-
[Show Flanks]
- Chromosome:
- 4:20390280
(GRCh38)
4:20391903
(GRCh37)
- Canonical SPDI:
- NC_000004.12:20390279:AAAAT:
- Gene:
- SLIT2 (Varview), SLIT2-IT1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
11.
rs1488670293 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:20391099
(GRCh38)
4:20392722
(GRCh37)
- Canonical SPDI:
- NC_000004.12:20391098:C:T
- Gene:
- SLIT2 (Varview), SLIT2-IT1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
12.
rs1488629309 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:20393979
(GRCh38)
4:20395602
(GRCh37)
- Canonical SPDI:
- NC_000004.12:20393978:A:G
- Gene:
- SLIT2 (Varview), SLIT2-IT1 (Varview)
- Functional Consequence:
- intron_variant,genic_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:
13.
rs1488535584 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:20391361
(GRCh38)
4:20392984
(GRCh37)
- Canonical SPDI:
- NC_000004.12:20391360:G:A
- Gene:
- SLIT2 (Varview), SLIT2-IT1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
15.
rs1487563645 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:20390508
(GRCh38)
4:20392131
(GRCh37)
- Canonical SPDI:
- NC_000004.12:20390507:A:G
- Gene:
- SLIT2 (Varview), SLIT2-IT1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
17.
rs1486353446 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:20391428
(GRCh38)
4:20393051
(GRCh37)
- Canonical SPDI:
- NC_000004.12:20391427:A:G
- Gene:
- SLIT2 (Varview), SLIT2-IT1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1485371650 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:20390517
(GRCh38)
4:20392140
(GRCh37)
- Canonical SPDI:
- NC_000004.12:20390516:A:G
- Gene:
- SLIT2 (Varview), SLIT2-IT1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000108/2
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000071/1
(TOMMO)
G=0.000079/11
(GnomAD)
G=0.000223/1
(Estonian)
- HGVS:
20.
rs1484005249 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 4:20393517
(GRCh38)
4:20395140
(GRCh37)
- Canonical SPDI:
- NC_000004.12:20393516:C:A
- Gene:
- SLIT2 (Varview), SLIT2-IT1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0./0
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS: