Links from Gene
Items: 1 to 20 of 639
1.
rs1488008863 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 1:152623355
(GRCh38)
1:152595831
(GRCh37)
- Canonical SPDI:
- NC_000001.11:152623354:T:A
- Gene:
- LCE3A (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=0.000008/2
(TOPMED)
- HGVS:
2.
rs1487188322 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 1:152622483
(GRCh38)
1:152594959
(GRCh37)
- Canonical SPDI:
- NC_000001.11:152622482:C:A,NC_000001.11:152622482:C:T
- Gene:
- LCE3A (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000035/1
(TOMMO)
- HGVS:
3.
rs1487048985 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:152624247
(GRCh38)
1:152596723
(GRCh37)
- Canonical SPDI:
- NC_000001.11:152624246:T:C
- Gene:
- LCE3A (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
4.
rs1482983305 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:152624772
(GRCh38)
1:152597248
(GRCh37)
- Canonical SPDI:
- NC_000001.11:152624771:T:G
- Gene:
- LCE3A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
5.
rs1482080833 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:152622976
(GRCh38)
1:152595452
(GRCh37)
- Canonical SPDI:
- NC_000001.11:152622975:G:A
- Gene:
- LCE3A (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000254/5
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000016/4
(GnomAD_exomes)
- HGVS:
6.
rs1481982056 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:152623983
(GRCh38)
1:152596459
(GRCh37)
- Canonical SPDI:
- NC_000001.11:152623982:C:T
- Gene:
- LCE3A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000214/3
(
ALFA)
T=0.000043/6
(GnomAD)
T=0.000045/12
(TOPMED)
- HGVS:
7.
rs1479962780 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 1:152624447
(GRCh38)
1:152596923
(GRCh37)
- Canonical SPDI:
- NC_000001.11:152624446:A:
- Gene:
- LCE3A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000071/1
(
ALFA)
-=0.000015/4
(TOPMED)
-=0.000029/4
(GnomAD)
- HGVS:
8.
rs1479083801 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:152623056
(GRCh38)
1:152595532
(GRCh37)
- Canonical SPDI:
- NC_000001.11:152623055:G:A
- Gene:
- LCE3A (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
9.
rs1478980252 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:152623884
(GRCh38)
1:152596360
(GRCh37)
- Canonical SPDI:
- NC_000001.11:152623883:G:A
- Gene:
- LCE3A (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:
10.
rs1478523855 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AC>-
[Show Flanks]
- Chromosome:
- 1:152623076
(GRCh38)
1:152595552
(GRCh37)
- Canonical SPDI:
- NC_000001.11:152623074:CAC:C
- Gene:
- LCE3A (Varview)
- Functional Consequence:
- coding_sequence_variant,frameshift_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
-=0.000004/1
(GnomAD_exomes)
-=0.000008/2
(TOPMED)
- HGVS:
11.
rs1478283337 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:152623285
(GRCh38)
1:152595761
(GRCh37)
- Canonical SPDI:
- NC_000001.11:152623284:G:A
- Gene:
- LCE3A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
12.
rs1477321503 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:152623064
(GRCh38)
1:152595540
(GRCh37)
- Canonical SPDI:
- NC_000001.11:152623063:G:C
- Gene:
- LCE3A (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
13.
rs1472953536 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 1:152622387
(GRCh38)
1:152594863
(GRCh37)
- Canonical SPDI:
- NC_000001.11:152622386:T:A
- Gene:
- LCE3A (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency
- MAF:
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1470629519 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 1:152622665
(GRCh38)
1:152595141
(GRCh37)
- Canonical SPDI:
- NC_000001.11:152622664:A:G,NC_000001.11:152622664:A:T
- Gene:
- LCE3A (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
A=0.5/1
(SGDP_PRJ)
- HGVS:
15.
rs1470578001 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:152624800
(GRCh38)
1:152597276
(GRCh37)
- Canonical SPDI:
- NC_000001.11:152624799:T:C
- Gene:
- LCE3A (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
16.
rs1469994323 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:152624797
(GRCh38)
1:152597273
(GRCh37)
- Canonical SPDI:
- NC_000001.11:152624796:C:A
- Gene:
- LCE3A (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:
17.
rs1469550473 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:152622940
(GRCh38)
1:152595416
(GRCh37)
- Canonical SPDI:
- NC_000001.11:152622939:C:T
- Gene:
- LCE3A (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
- HGVS:
18.
rs1467684562 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:152623172
(GRCh38)
1:152595648
(GRCh37)
- Canonical SPDI:
- NC_000001.11:152623171:G:A
- Gene:
- LCE3A (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
19.
rs1464637827 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:152623035
(GRCh38)
1:152595511
(GRCh37)
- Canonical SPDI:
- NC_000001.11:152623034:C:T
- Gene:
- LCE3A (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
20.
rs1464038034 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 1:152622612
(GRCh38)
1:152595088
(GRCh37)
- Canonical SPDI:
- NC_000001.11:152622611:G:A,NC_000001.11:152622611:G:T
- Gene:
- LCE3A (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
A=0.000342/1
(KOREAN)
- HGVS: