Links from Gene
Items: 1 to 20 of 2994
1.
rs1491500640 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 12:113469698
(GRCh38)
12:113907503
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113469697:CA:
- Gene:
- LHX5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
2.
rs1490867976 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:113470556
(GRCh38)
12:113908361
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113470555:G:A
- Gene:
- LHX5 (Varview), LHX5-AS1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS:
3.
rs1490482229 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:113462572
(GRCh38)
12:113900377
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113462571:T:C
- Gene:
- LHX5 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
C=0.000468/3
(1000Genomes)
- HGVS:
4.
rs1490139035 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:113464424
(GRCh38)
12:113902229
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113464423:G:A
- Gene:
- LHX5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
7.
rs1489976546 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 12:113464022
(GRCh38)
12:113901828
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113464022:G:GG
- Gene:
- LHX5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
8.
rs1489481205 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 12:113471303
(GRCh38)
12:113909108
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113471302:A:
- Gene:
- LHX5 (Varview), LHX5-AS1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
-=0.000004/1
(GnomAD_exomes)
- HGVS:
9.
rs1489459757 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:113467748
(GRCh38)
12:113905553
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113467747:C:T
- Gene:
- LHX5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
10.
rs1488699678 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:113467264
(GRCh38)
12:113905069
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113467263:T:C
- Gene:
- LHX5 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
11.
rs1488623625 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:113469197
(GRCh38)
12:113907002
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113469196:T:C
- Gene:
- LHX5 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
12.
rs1488334393 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 12:113472688
(GRCh38)
12:113910493
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113472687:G:A,NC_000012.12:113472687:G:T
- Gene:
- LHX5 (Varview), LHX5-AS1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
13.
rs1488133072 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:113465403
(GRCh38)
12:113903208
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113465402:G:A
- Gene:
- LHX5 (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:
14.
rs1487935655 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 12:113466796
(GRCh38)
12:113904601
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113466795:G:T
- Gene:
- LHX5 (Varview)
- Functional Consequence:
- intron_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.
rs1487688455 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:113470142
(GRCh38)
12:113907947
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113470141:T:C
- Gene:
- LHX5 (Varview), LHX5-AS1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
16.
rs1487184329 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:113468426
(GRCh38)
12:113906231
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113468425:A:G
- Gene:
- LHX5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
17.
rs1487112171 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 12:113462393
(GRCh38)
12:113900198
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113462392:G:C
- Gene:
- LHX5 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
18.
rs1487098901 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:113465505
(GRCh38)
12:113903310
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113465504:C:T
- Gene:
- LHX5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
19.
rs1487072423 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:113471146
(GRCh38)
12:113908951
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113471145:G:A
- Gene:
- LHX5 (Varview), LHX5-AS1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
20.
rs1486821393 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:113463664
(GRCh38)
12:113901469
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113463663:C:T
- Gene:
- LHX5 (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: