Links from Gene
Items: 1 to 20 of 1941
1.
rs1491161545 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 3:98188303
(GRCh38)
3:97907147
(GRCh37)
- Canonical SPDI:
- NC_000003.12:98188302:CA:
- Gene:
- LOC105373998 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00004/1
(GnomAD)
- HGVS:
2.
rs1490870061 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:98186210
(GRCh38)
3:97905054
(GRCh37)
- Canonical SPDI:
- NC_000003.12:98186209:G:A
- Gene:
- LOC105373998 (Varview)
- Functional Consequence:
- 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:
3.
rs1490858945 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:98187633
(GRCh38)
3:97906477
(GRCh37)
- Canonical SPDI:
- NC_000003.12:98187632:A:G
- Gene:
- LOC105373998 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
4.
rs1490396150 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:98185900
(GRCh38)
3:97904744
(GRCh37)
- Canonical SPDI:
- NC_000003.12:98185899:C:T
- Gene:
- LOC105373998 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
5.
rs1490090966 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 3:98189873
(GRCh38)
3:97908717
(GRCh37)
- Canonical SPDI:
- NC_000003.12:98189872:T:G
- Gene:
- LOC105373997 (Varview), LOC105373998 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
6.
rs1489892489 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 3:98188854
(GRCh38)
3:97907698
(GRCh37)
- Canonical SPDI:
- NC_000003.12:98188853:G:A,NC_000003.12:98188853:G:C
- Gene:
- LOC105373998 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
7.
rs1488687286 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 3:98187936
(GRCh38)
3:97906780
(GRCh37)
- Canonical SPDI:
- NC_000003.12:98187935:C:A
- Gene:
- LOC105373998 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
9.
rs1487873263 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:98189907
(GRCh38)
3:97908751
(GRCh37)
- Canonical SPDI:
- NC_000003.12:98189906:C:T
- Gene:
- LOC105373997 (Varview), LOC105373998 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
10.
rs1487779709 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 3:98190183
(GRCh38)
3:97909027
(GRCh37)
- Canonical SPDI:
- NC_000003.12:98190182:C:A
- Gene:
- LOC105373997 (Varview), LOC105373998 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0./0
(GnomAD)
A=0.000004/1
(TOPMED)
- HGVS:
11.
rs1487108316 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 3:98184569
(GRCh38)
3:97903413
(GRCh37)
- Canonical SPDI:
- NC_000003.12:98184568:C:A,NC_000003.12:98184568:C:T
- Gene:
- LOC105373998 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1487046292 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AC>-
[Show Flanks]
- Chromosome:
- 3:98188463
(GRCh38)
3:97907307
(GRCh37)
- Canonical SPDI:
- NC_000003.12:98188462:AC:
- Gene:
- LOC105373998 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.000156/1
(1000Genomes)
-=0.000186/26
(GnomAD)
- HGVS:
13.
rs1487019653 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:98186971
(GRCh38)
3:97905815
(GRCh37)
- Canonical SPDI:
- NC_000003.12:98186970:A:G
- Gene:
- LOC105373998 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000021/3
(GnomAD)
G=0.00003/8
(TOPMED)
- HGVS:
14.
rs1486514387 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 3:98186281
(GRCh38)
3:97905125
(GRCh37)
- Canonical SPDI:
- NC_000003.12:98186280:A:C
- Gene:
- LOC105373998 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
15.
rs1486444951 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 3:98186991
(GRCh38)
3:97905835
(GRCh37)
- Canonical SPDI:
- NC_000003.12:98186990:C:A
- Gene:
- LOC105373998 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000156/1
(1000Genomes)
C=0.5/1
(SGDP_PRJ)
- HGVS:
16.
rs1486238765 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 3:98189535
(GRCh38)
3:97908379
(GRCh37)
- Canonical SPDI:
- NC_000003.12:98189534:G:C,NC_000003.12:98189534:G:T
- Gene:
- LOC105373997 (Varview), LOC105373998 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
17.
rs1485915054 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTCT>-
[Show Flanks]
- Chromosome:
- 3:98189088
(GRCh38)
3:97907932
(GRCh37)
- Canonical SPDI:
- NC_000003.12:98189083:TTCTTTCT:TTCT
- Gene:
- LOC105373998 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
TTCTTTCT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
19.
rs1485402507 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 3:98187516
(GRCh38)
3:97906361
(GRCh37)
- Canonical SPDI:
- NC_000003.12:98187516:C:CC
- Gene:
- LOC105373998 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
20.
rs1485261518 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:98188370
(GRCh38)
3:97907214
(GRCh37)
- Canonical SPDI:
- NC_000003.12:98188369:G:A
- Gene:
- LOC105373998 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS: