Links from Gene
Items: 1 to 20 of 440
1.
rs1487735372 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CAGA
[Show Flanks]
- Chromosome:
- 1:116560933
(GRCh38)
1:117103556
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116560933:CAGA:CAGACAGA
- Gene:
- CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CAGACAGA=0./0
(
ALFA)
CAGA=0.000004/1
(TOPMED)
CAGA=0.000007/1
(GnomAD)
- HGVS:
2.
rs1485833506 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:116561487
(GRCh38)
1:117104109
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116561486:G:A
- Gene:
- CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
3.
rs1484161773 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:116560276
(GRCh38)
1:117102898
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116560275:T:C
- Gene:
- CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
4.
rs1483970528 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:116560709
(GRCh38)
1:117103331
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116560708:C:A
- Gene:
- CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
5.
rs1483093082 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:116560924
(GRCh38)
1:117103546
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116560923:T:C
- Gene:
- CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,intron_variant,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:
6.
rs1482014146 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:116561977
(GRCh38)
1:117104599
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116561976:T:C
- Gene:
- CD58 (Varview), MIR548AC (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,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.
rs1481167710 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:116560432
(GRCh38)
1:117103054
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116560431:C:A
- Gene:
- CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
9.
rs1477495598 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:116561180
(GRCh38)
1:117103802
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116561179:C:A
- Gene:
- CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,intron_variant,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:
10.
rs1476934737 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:116559674
(GRCh38)
1:117102296
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116559673:G:A
- Gene:
- CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000066/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
11.
rs1475421912 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 1:116561217
(GRCh38)
1:117103840
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116561217:AAAA:AAAAA
- Gene:
- CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1475090753 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:116559701
(GRCh38)
1:117102323
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116559700:C:G
- Gene:
- CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
13.
rs1474848148 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:116561201
(GRCh38)
1:117103823
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116561200:G:T
- Gene:
- CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1474225437 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:116559913
(GRCh38)
1:117102535
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116559912:T:C
- Gene:
- CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
15.
rs1473641920 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:116560345
(GRCh38)
1:117102967
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116560344:C:T
- Gene:
- CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
16.
rs1472726561 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:116561500
(GRCh38)
1:117104122
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116561499:C:A
- Gene:
- CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
17.
rs1464273609 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:116560382
(GRCh38)
1:117103004
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116560381:A:C
- Gene:
- CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
18.
rs1461225399 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:116559942
(GRCh38)
1:117102564
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116559941:G:A
- Gene:
- CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
19.
rs1459885959 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 1:116560541
(GRCh38)
1:117103163
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116560540:T:A
- Gene:
- CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
20.
rs1459383158 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:116561033
(GRCh38)
1:117103655
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116561032:G:A
- Gene:
- CD58 (Varview), MIR548AC (Varview), LOC105378925 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS: