Links from Gene
Items: 1 to 20 of 978
1.
rs1490067973 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:109956408
(GRCh38)
2:110713985
(GRCh37)
- Canonical SPDI:
- NC_000002.12:109956407:G:A
- Gene:
- LOC440895 (Varview), LIMS3-LOC440895 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.00004/2
(GnomAD)
- HGVS:
2.
rs1490053049 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:109962060
(GRCh38)
2:110719637
(GRCh37)
- Canonical SPDI:
- NC_000002.12:109962059:C:T
- Gene:
- LOC440895 (Varview), LIMS3-LOC440895 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.00012/1
(GnomAD)
- HGVS:
4.
rs1488659130 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 2:109968536
(GRCh38)
2:110726113
(GRCh37)
- Canonical SPDI:
- NC_000002.12:109968535:A:C,NC_000002.12:109968535:A:G
- Gene:
- LOC440895 (Varview), LIMS3-LOC440895 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
G=0.00008/1
(TOMMO)
- HGVS:
NC_000002.12:g.109968536A>C, NC_000002.12:g.109968536A>G, NC_000002.11:g.110726113A>C, NC_000002.11:g.110726113A>G, NR_027143.3:n.820A>C, NR_027143.3:n.820A>G, NR_027145.2:n.3181A>C, NR_027145.2:n.3181A>G, NR_027144.1:n.1917A>C, NR_027144.1:n.1917A>G, NM_001145634.1:c.*520A>C, NM_001145634.1:c.*520A>G, NR_027142.1:n.738A>C, NR_027142.1:n.738A>G
5.
rs1488606128 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:109958236
(GRCh38)
2:110715813
(GRCh37)
- Canonical SPDI:
- NC_000002.12:109958235:T:C
- Gene:
- LOC440895 (Varview), LIMS3-LOC440895 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.0013/4
(TOMMO)
C=0.0439/13
(KOREAN)
- HGVS:
9.
rs1486814741 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:109968008
(GRCh38)
2:110725585
(GRCh37)
- Canonical SPDI:
- NC_000002.12:109968007:T:C
- Gene:
- LOC440895 (Varview), LIMS3-LOC440895 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.00005/1
(GnomAD)
- HGVS:
13.
rs1485316571 has merged into rs113232620 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT
[Show Flanks]
- Chromosome:
- 2:109946276
(GRCh38)
2:110703853
(GRCh37)
- Canonical SPDI:
- NC_000002.12:109946266:TTTTTTTTTTT:TTTTTTTTT,NC_000002.12:109946266:TTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:109946266:TTTTTTTTTTT:TTTTTTTTTTTT
- Gene:
- LOC440895 (Varview), LIMS3-LOC440895 (Varview), LOC124907865 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
15.
rs1484853694 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 2:109958291
(GRCh38)
2:110715868
(GRCh37)
- Canonical SPDI:
- NC_000002.12:109958290:A:G,NC_000002.12:109958290:A:T
- Gene:
- LOC440895 (Varview), LIMS3-LOC440895 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.194/79
(KOREAN)
- HGVS:
16.
rs1484267145 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 2:109952820
(GRCh38)
2:110710398
(GRCh37)
- Canonical SPDI:
- NC_000002.12:109952820:G:GG
- Gene:
- LOC440895 (Varview), LIMS3-LOC440895 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0.0548/650
(
ALFA)
G=0.21174/1356
(1000Genomes)
- HGVS:
17.
rs1484035298 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 2:109946006
(GRCh38)
2:110703583
(GRCh37)
- Canonical SPDI:
- NC_000002.12:109946005:T:G
- Gene:
- LOC440895 (Varview), LIMS3-LOC440895 (Varview), LOC124907865 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.00007/1
(GnomAD)
- HGVS:
19.
rs1483772561 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 2:109965335
(GRCh38)
2:110722912
(GRCh37)
- Canonical SPDI:
- NC_000002.12:109965334:G:C
- Gene:
- LOC440895 (Varview), LIMS3-LOC440895 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.00002/1
(GnomAD)
- HGVS: