Links from Gene
Items: 1 to 20 of 1944
2.
rs1490775291 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:127657112
(GRCh38)
12:128141657
(GRCh37)
- Canonical SPDI:
- NC_000012.12:127657111:T:C
- Gene:
- LOC105370068 (Varview)
- Functional Consequence:
- 2KB_upstream_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:
3.
rs1490721684 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:127656048
(GRCh38)
12:128140593
(GRCh37)
- Canonical SPDI:
- NC_000012.12:127656047:A:G
- Gene:
- LOC105370068 (Varview)
- Functional Consequence:
- 2KB_upstream_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:
4.
rs1490647560 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 12:127650431
(GRCh38)
12:128134976
(GRCh37)
- Canonical SPDI:
- NC_000012.12:127650430:G:A,NC_000012.12:127650430:G:C
- Gene:
- LOC105370068 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
5.
rs1490619927 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 12:127651246
(GRCh38)
12:128135791
(GRCh37)
- Canonical SPDI:
- NC_000012.12:127651245:C:G
- Gene:
- LOC105370068 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
8.
rs1488887887 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 12:127654568
(GRCh38)
12:128139113
(GRCh37)
- Canonical SPDI:
- NC_000012.12:127654567:C:G,NC_000012.12:127654567:C:T
- Gene:
- LOC105370068 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
9.
rs1488837825 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:127655508
(GRCh38)
12:128140053
(GRCh37)
- Canonical SPDI:
- NC_000012.12:127655507:G:A
- Gene:
- LOC105370068 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
- HGVS:
10.
rs1488595796 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 12:127651420
(GRCh38)
12:128135965
(GRCh37)
- Canonical SPDI:
- NC_000012.12:127651417:CTCT:CT
- Gene:
- LOC105370068 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CTCT=0./0
(
ALFA)
-=0.000023/6
(TOPMED)
- HGVS:
11.
rs1488418151 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 12:127655196
(GRCh38)
12:128139741
(GRCh37)
- Canonical SPDI:
- NC_000012.12:127655195:G:A,NC_000012.12:127655195:G:T
- Gene:
- LOC105370068 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1488233603 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 12:127653563
(GRCh38)
12:128138108
(GRCh37)
- Canonical SPDI:
- NC_000012.12:127653562:AAAA:AAA
- Gene:
- LOC105370068 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AAA=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
13.
rs1487841061 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:127649247
(GRCh38)
12:128133792
(GRCh37)
- Canonical SPDI:
- NC_000012.12:127649246:G:A
- Gene:
- LOC105370068 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
14.
rs1487758156 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 12:127654309
(GRCh38)
12:128138854
(GRCh37)
- Canonical SPDI:
- NC_000012.12:127654308:CC:C
- Gene:
- LOC105370068 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
15.
rs1487646978 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:127653162
(GRCh38)
12:128137707
(GRCh37)
- Canonical SPDI:
- NC_000012.12:127653161:T:C
- Gene:
- LOC105370068 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
16.
rs1486819002 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:127656307
(GRCh38)
12:128140852
(GRCh37)
- Canonical SPDI:
- NC_000012.12:127656306:A:G
- Gene:
- LOC105370068 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
17.
rs1486672942 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:127652759
(GRCh38)
12:128137304
(GRCh37)
- Canonical SPDI:
- NC_000012.12:127652758:A:G
- Gene:
- LOC105370068 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
18.
rs1486613981 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 12:127649417
(GRCh38)
12:128133962
(GRCh37)
- Canonical SPDI:
- NC_000012.12:127649416:C:G,NC_000012.12:127649416:C:T
- Gene:
- LOC105370068 (Varview)
- Functional Consequence:
- 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:
19.
rs1486452450 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:127657566
(GRCh38)
12:128142111
(GRCh37)
- Canonical SPDI:
- NC_000012.12:127657565:T:C
- Gene:
- LOC105370068 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000198/3
(
ALFA)
C=0.000029/4
(GnomAD)
C=0.00067/3
(Estonian)
- HGVS:
20.
rs1484431709 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:127654852
(GRCh38)
12:128139397
(GRCh37)
- Canonical SPDI:
- NC_000012.12:127654851:A:G
- Gene:
- LOC105370068 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
- HGVS: