Links from Gene
Items: 1 to 20 of 1000
2.
rs1490669701 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 12:54631425
(GRCh38)
12:55025209
(GRCh37)
- Canonical SPDI:
- NC_000012.12:54631424:G:C
- Gene:
- LACRT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
3.
rs1489817107 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:54632573
(GRCh38)
12:55026357
(GRCh37)
- Canonical SPDI:
- NC_000012.12:54632572:G:A
- Gene:
- LACRT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
4.
rs1489750503 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 12:54635700
(GRCh38)
12:55029484
(GRCh37)
- Canonical SPDI:
- NC_000012.12:54635699:C:G
- Gene:
- LACRT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
5.
rs1489251487 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 12:54634554
(GRCh38)
12:55028338
(GRCh37)
- Canonical SPDI:
- NC_000012.12:54634553:A:C
- Gene:
- LACRT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
6.
rs1488956142 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 12:54632598
(GRCh38)
12:55026382
(GRCh37)
- Canonical SPDI:
- NC_000012.12:54632597:A:T
- Gene:
- LACRT (Varview)
- Functional Consequence:
- 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:
7.
rs1488310772 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 12:54633145
(GRCh38)
12:55026929
(GRCh37)
- Canonical SPDI:
- NC_000012.12:54633144:A:G,NC_000012.12:54633144:A:T
- Gene:
- LACRT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1488275037 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 12:54633483
(GRCh38)
12:55027267
(GRCh37)
- Canonical SPDI:
- NC_000012.12:54633482:C:G
- Gene:
- LACRT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
9.
rs1488241304 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTGG>-
[Show Flanks]
- Chromosome:
- 12:54635961
(GRCh38)
12:55029745
(GRCh37)
- Canonical SPDI:
- NC_000012.12:54635958:GGCTGG:GG
- Gene:
- LACRT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0.000224/1
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000223/1
(Estonian)
- HGVS:
10.
rs1487544871 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 12:54631208
(GRCh38)
12:55024992
(GRCh37)
- Canonical SPDI:
- NC_000012.12:54631207:G:C
- Gene:
- LACRT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
12.
rs1487323259 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:54632101
(GRCh38)
12:55025885
(GRCh37)
- Canonical SPDI:
- NC_000012.12:54632100:A:G
- Gene:
- LACRT (Varview)
- Functional Consequence:
- intron_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.
rs1484994929 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:54635740
(GRCh38)
12:55029524
(GRCh37)
- Canonical SPDI:
- NC_000012.12:54635739:A:G
- Gene:
- LACRT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
14.
rs1484747977 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:54636855
(GRCh38)
12:55030639
(GRCh37)
- Canonical SPDI:
- NC_000012.12:54636854:C:T
- Gene:
- LACRT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
15.
rs1482454638 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:54635530
(GRCh38)
12:55029314
(GRCh37)
- Canonical SPDI:
- NC_000012.12:54635529:T:C
- Gene:
- LACRT (Varview)
- Functional Consequence:
- 2KB_upstream_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:
16.
rs1481735384 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 12:54633856
(GRCh38)
12:55027640
(GRCh37)
- Canonical SPDI:
- NC_000012.12:54633855:G:T
- Gene:
- LACRT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
17.
rs1481609777 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:54636864
(GRCh38)
12:55030648
(GRCh37)
- Canonical SPDI:
- NC_000012.12:54636863:G:A
- Gene:
- LACRT (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
18.
rs1481046074 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 12:54631167
(GRCh38)
12:55024951
(GRCh37)
- Canonical SPDI:
- NC_000012.12:54631166:C:G
- Gene:
- LACRT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000162/3
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
G=0.00067/3
(Estonian)
- HGVS:
19.
rs1480874225 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 12:54634101
(GRCh38)
12:55027885
(GRCh37)
- Canonical SPDI:
- NC_000012.12:54634100:C:A
- Gene:
- LACRT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
20.
rs1480837748 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:54630497
(GRCh38)
12:55024281
(GRCh37)
- Canonical SPDI:
- NC_000012.12:54630496:T:C
- Gene:
- LACRT (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS: