Links from Gene
Items: 1 to 20 of 864
1.
rs1490488660 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:152581162
(GRCh38)
1:152553638
(GRCh37)
- Canonical SPDI:
- NC_000001.11:152581161:C:G
- Gene:
- LCE3D (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
2.
rs1490030632 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 1:152579495
(GRCh38)
1:152551971
(GRCh37)
- Canonical SPDI:
- NC_000001.11:152579494:T:A,NC_000001.11:152579494:T:C
- Gene:
- LCE3D (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
- HGVS:
3.
rs1490000124 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:152580723
(GRCh38)
1:152553199
(GRCh37)
- Canonical SPDI:
- NC_000001.11:152580722:T:C
- Gene:
- LCE3D (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
4.
rs1487734089 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 1:152581529
(GRCh38)
1:152554005
(GRCh37)
- Canonical SPDI:
- NC_000001.11:152581528:T:A
- Gene:
- LCE3D (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
6.
rs1484847303 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:152579846
(GRCh38)
1:152552322
(GRCh37)
- Canonical SPDI:
- NC_000001.11:152579845:G:A
- Gene:
- LCE3D (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
- HGVS:
7.
rs1483780141 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:152581653
(GRCh38)
1:152554129
(GRCh37)
- Canonical SPDI:
- NC_000001.11:152581652:A:G
- Gene:
- LCE3D (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1483753284 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:152580002
(GRCh38)
1:152552478
(GRCh37)
- Canonical SPDI:
- NC_000001.11:152580001:A:G
- Gene:
- LCE3D (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.00003/8
(TOPMED)
- HGVS:
9.
rs1483636532 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:152582326
(GRCh38)
1:152554802
(GRCh37)
- Canonical SPDI:
- NC_000001.11:152582325:C:A
- Gene:
- LCE3D (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
10.
rs1483007285 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:152581469
(GRCh38)
1:152553945
(GRCh37)
- Canonical SPDI:
- NC_000001.11:152581468:G:A
- Gene:
- LCE3D (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
11.
rs1482957109 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 1:152582456
(GRCh38)
1:152554932
(GRCh37)
- Canonical SPDI:
- NC_000001.11:152582455:T:C,NC_000001.11:152582455:T:G
- Gene:
- LCE3D (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)
G=0.000035/1
(TOMMO)
- HGVS:
12.
rs1480541494 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:152580437
(GRCh38)
1:152552913
(GRCh37)
- Canonical SPDI:
- NC_000001.11:152580436:A:G
- Gene:
- LCE3D (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
13.
rs1480378087 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:152580713
(GRCh38)
1:152553189
(GRCh37)
- Canonical SPDI:
- NC_000001.11:152580712:C:T
- Gene:
- LCE3D (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=0.000011/3
(TOPMED)
T=0.000035/1
(TOMMO)
- HGVS:
14.
rs1480029355 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:152580652
(GRCh38)
1:152553128
(GRCh37)
- Canonical SPDI:
- NC_000001.11:152580651:C:T
- Gene:
- LCE3D (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
15.
rs1479796481 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:152580513
(GRCh38)
1:152552989
(GRCh37)
- Canonical SPDI:
- NC_000001.11:152580512:G:A
- Gene:
- LCE3D (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
16.
rs1479746691 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:152580806
(GRCh38)
1:152553282
(GRCh37)
- Canonical SPDI:
- NC_000001.11:152580805:G:C
- Gene:
- LCE3D (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:
17.
rs1479004034 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:152579951
(GRCh38)
1:152552427
(GRCh37)
- Canonical SPDI:
- NC_000001.11:152579950:A:G
- Gene:
- LCE3D (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1478309259 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:152582106
(GRCh38)
1:152554582
(GRCh37)
- Canonical SPDI:
- NC_000001.11:152582105:G:A
- Gene:
- LCE3D (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
19.
rs1478097546 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:152580664
(GRCh38)
1:152553140
(GRCh37)
- Canonical SPDI:
- NC_000001.11:152580663:A:G
- Gene:
- LCE3D (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
20.
rs1477649826 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:152581274
(GRCh38)
1:152553750
(GRCh37)
- Canonical SPDI:
- NC_000001.11:152581273:T:C
- Gene:
- LCE3D (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS: