Links from Nucleotide
Items: 1 to 20 of 129
1.
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:
3.
rs1482109943 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:20392258
(GRCh38)
4:20393881
(GRCh37)
- Canonical SPDI:
- NC_000004.12:20392257:A:G
- Gene:
- SLIT2 (Varview), SLIT2-IT1 (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=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
G=0.000035/1
(TOMMO)
- HGVS:
4.
rs1480630074 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 4:20392200
(GRCh38)
4:20393823
(GRCh37)
- Canonical SPDI:
- NC_000004.12:20392199:C:G,NC_000004.12:20392199:C:T
- Gene:
- SLIT2 (Varview), SLIT2-IT1 (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)
T=0.000035/1
(TOMMO)
- HGVS:
5.
rs1466704618 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 4:20393600
(GRCh38)
4:20395224
(GRCh37)
- Canonical SPDI:
- NC_000004.12:20393600:T:TT
- Gene:
- SLIT2 (Varview), SLIT2-IT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
T=0./0
(GnomAD)
- HGVS:
6.
rs1465318393 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 4:20394646
(GRCh38)
4:20396269
(GRCh37)
- Canonical SPDI:
- NC_000004.12:20394645:A:C
- Gene:
- SLIT2 (Varview), SLIT2-IT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
7.
rs1452525094 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:20392216
(GRCh38)
4:20393839
(GRCh37)
- Canonical SPDI:
- NC_000004.12:20392215:A:G
- 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:
G=0.000094/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
8.
rs1450164329 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 4:20393622
(GRCh38)
4:20395245
(GRCh37)
- Canonical SPDI:
- NC_000004.12:20393621:A:C
- 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:
C=0.000142/2
(
ALFA)
C=0.000026/7
(TOPMED)
C=0.000043/6
(GnomAD)
- HGVS:
9.
rs1446630366 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:20394614
(GRCh38)
4:20396237
(GRCh37)
- Canonical SPDI:
- NC_000004.12:20394613: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=0.000015/4
(TOPMED)
- HGVS:
11.
rs1445444556 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:20394552
(GRCh38)
4:20396175
(GRCh37)
- Canonical SPDI:
- NC_000004.12:20394551:G:A
- 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:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
12.
rs1441021227 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 4:20394649
(GRCh38)
4:20396272
(GRCh37)
- Canonical SPDI:
- NC_000004.12:20394648:A:G,NC_000004.12:20394648:A:T
- Gene:
- SLIT2 (Varview), SLIT2-IT1 (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)
- HGVS:
13.
rs1437758803 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:20393609
(GRCh38)
4:20395232
(GRCh37)
- Canonical SPDI:
- NC_000004.12:20393608:A:G
- Gene:
- SLIT2 (Varview), SLIT2-IT1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000084/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
14.
rs1437221138 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 4:20394776
(GRCh38)
4:20396399
(GRCh37)
- Canonical SPDI:
- NC_000004.12:20394775:A:C
- Gene:
- SLIT2 (Varview), SLIT2-IT1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
C=0.000248/4
(TOMMO)
C=0.002396/7
(KOREAN)
C=0.002729/5
(Korea1K)
- HGVS:
16.
rs1422180473 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:20393364
(GRCh38)
4:20394987
(GRCh37)
- Canonical SPDI:
- NC_000004.12:20393363:G:A
- Gene:
- SLIT2 (Varview), SLIT2-IT1 (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:
17.
rs1413316285 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 4:20394575
(GRCh38)
4:20396198
(GRCh37)
- Canonical SPDI:
- NC_000004.12:20394574:T:A
- Gene:
- SLIT2 (Varview), SLIT2-IT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
18.
rs1397108720 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 4:20393359
(GRCh38)
4:20394982
(GRCh37)
- Canonical SPDI:
- NC_000004.12:20393358:C:A
- Gene:
- SLIT2 (Varview), SLIT2-IT1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
19.
rs1388513506 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 4:20394760
(GRCh38)
4:20396383
(GRCh37)
- Canonical SPDI:
- NC_000004.12:20394759:A:T
- Gene:
- SLIT2 (Varview), SLIT2-IT1 (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:
20.
rs1384620355 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 4:20394572
(GRCh38)
4:20396195
(GRCh37)
- Canonical SPDI:
- NC_000004.12:20394571:A:T
- Gene:
- SLIT2 (Varview), SLIT2-IT1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS: