Links from Gene
Items: 1 to 20 of 1000
1.
rs1491572969 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA
[Show Flanks]
- Chromosome:
- 19:35259338
(GRCh38)
19:35750241
(GRCh37)
- Canonical SPDI:
- NC_000019.10:35259337:AAAAAAAA:AAAAAAA,NC_000019.10:35259337:AAAAAAAA:AAAAAAAAA
- Gene:
- LSR (Varview), LOC105372380 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0.000108/2
(
ALFA)
-=0.000023/6
(TOPMED)
-=0.000036/5
(GnomAD)
-=0.000342/4
(GnomAD_exomes)
-=0.000446/2
(Estonian)
- HGVS:
2.
rs1491511061 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 19:35267018
(GRCh38)
19:35757921
(GRCh37)
- Canonical SPDI:
- NC_000019.10:35267017:AT:
- Gene:
- USF2 (Varview), LSR (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000005/1
(GnomAD_exomes)
-=0.000009/1
(ExAC)
- HGVS:
3.
rs1491433431 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 19:35259337
(GRCh38)
19:35750240
(GRCh37)
- Canonical SPDI:
- NC_000019.10:35259336:TA:
- Gene:
- LSR (Varview), LOC105372380 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000043/6
(GnomAD)
-=0.00008/1
(GnomAD_exomes)
-=0.000091/24
(TOPMED)
-=0.000312/2
(1000Genomes)
- HGVS:
5.
rs1491166930 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->AT
[Show Flanks]
- Chromosome:
- 19:35260855
(GRCh38)
19:35751759
(GRCh37)
- Canonical SPDI:
- NC_000019.10:35260855::AT
- Gene:
- LSR (Varview), LOC105372380 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AT=0./0
(
ALFA)
AT=0.000014/2
(GnomAD)
- HGVS:
6.
rs1491067247 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 19:35256725
(GRCh38)
19:35747628
(GRCh37)
- Canonical SPDI:
- NC_000019.10:35256724:TG:
- Gene:
- LSR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
-=0.000035/4
(GnomAD)
- HGVS:
7.
rs1490822229 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:35268397
(GRCh38)
19:35759300
(GRCh37)
- Canonical SPDI:
- NC_000019.10:35268396:C:T
- Gene:
- USF2 (Varview), LSR (Varview)
- Functional Consequence:
- 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000199/26
(GnomAD)
- HGVS:
8.
rs1490710276 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:35252285
(GRCh38)
19:35743188
(GRCh37)
- Canonical SPDI:
- NC_000019.10:35252284:T:C
- Gene:
- LSR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000023/6
(TOPMED)
- HGVS:
9.
rs1490548900 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:35251974
(GRCh38)
19:35742877
(GRCh37)
- Canonical SPDI:
- NC_000019.10:35251973:A:G
- Gene:
- LSR (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:
10.
rs1490528724 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:35252405
(GRCh38)
19:35743308
(GRCh37)
- Canonical SPDI:
- NC_000019.10:35252404:T:C
- Gene:
- LSR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
11.
rs1490504922 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 19:35265849
(GRCh38)
19:35756753
(GRCh37)
- Canonical SPDI:
- NC_000019.10:35265849:TTTTTT:TTTTTTT
- Gene:
- LSR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTT=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000015/4
(TOPMED)
T=0.005874/98
(TOMMO)
- HGVS:
13.
rs1490158238 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 19:35267557
(GRCh38)
19:35758460
(GRCh37)
- Canonical SPDI:
- NC_000019.10:35267556:C:G,NC_000019.10:35267556:C:T
- Gene:
- USF2 (Varview), LSR (Varview)
- Functional Consequence:
- 2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000028/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
NC_000019.10:g.35267557C>G, NC_000019.10:g.35267557C>T, NC_000019.9:g.35758460C>G, NC_000019.9:g.35758460C>T, NG_029241.1:g.3565C>G, NG_029241.1:g.3565C>T, NM_015925.7:c.1536C>G, NM_015925.7:c.1536C>T, NM_015925.6:c.1680C>G, NM_015925.6:c.1680C>T, NM_205834.4:c.1593C>G, NM_205834.4:c.1593C>T, NM_205834.3:c.1737C>G, NM_205834.3:c.1737C>T, NM_205835.4:c.1389C>G, NM_205835.4:c.1389C>T, NM_205835.3:c.1533C>G, NM_205835.3:c.1533C>T, XM_005258980.3:c.1590C>G, XM_005258980.3:c.1590C>T, XM_005258980.2:c.1734C>G, XM_005258980.2:c.1734C>T, XM_005258980.1:c.1734C>G, XM_005258980.1:c.1734C>T, XM_011527026.3:c.1446C>G, XM_011527026.3:c.1446C>T, XM_011527026.2:c.1590C>G, XM_011527026.2:c.1590C>T, XM_011527026.1:c.1590C>G, XM_011527026.1:c.1590C>T, NM_001260489.2:c.1533C>G, NM_001260489.2:c.1533C>T, NM_001260489.1:c.1677C>G, NM_001260489.1:c.1677C>T, NM_001260490.2:c.1269C>G, NM_001260490.2:c.1269C>T, NM_001260490.1:c.1413C>G, NM_001260490.1:c.1413C>T, XM_047438920.1:c.1443C>G, XM_047438920.1:c.1443C>T, NM_001385215.1:c.1386C>G, NM_001385215.1:c.1386C>T, XM_047438921.1:c.1266C>G, XM_047438921.1:c.1266C>T
14.
rs1490157714 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:35253473
(GRCh38)
19:35744376
(GRCh37)
- Canonical SPDI:
- NC_000019.10:35253472:C:T
- Gene:
- LSR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000023/6
(TOPMED)
T=0.000036/5
(GnomAD)
T=0.000546/1
(Korea1K)
- HGVS:
15.
rs1490106058 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CAAAAG
[Show Flanks]
- Chromosome:
- 19:35254406
(GRCh38)
19:35745310
(GRCh37)
- Canonical SPDI:
- NC_000019.10:35254406:CAAAAG:CAAAAGCAAAAG
- Gene:
- LSR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CAAAAGCAAAAG=0./0
(
ALFA)
CAAAAG=0.000014/2
(GnomAD)
CAAAAG=0.000038/10
(TOPMED)
- HGVS:
16.
rs1490001300 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:35253114
(GRCh38)
19:35744017
(GRCh37)
- Canonical SPDI:
- NC_000019.10:35253113:G:A
- Gene:
- LSR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
17.
rs1489804375 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:35259656
(GRCh38)
19:35750559
(GRCh37)
- Canonical SPDI:
- NC_000019.10:35259655:A:G
- Gene:
- LSR (Varview), LOC105372380 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
18.
rs1489796174 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:35246701
(GRCh38)
19:35737604
(GRCh37)
- Canonical SPDI:
- NC_000019.10:35246700:C:T
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
19.
rs1489707819 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:35264920
(GRCh38)
19:35755823
(GRCh37)
- Canonical SPDI:
- NC_000019.10:35264919:G:A
- Gene:
- LSR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1489614867 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:35247107
(GRCh38)
19:35738010
(GRCh37)
- Canonical SPDI:
- NC_000019.10:35247106:A:G
- Gene:
- LSR (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000108/2
(
ALFA)
G=0.000034/9
(TOPMED)
G=0.000043/6
(GnomAD)
G=0.000223/1
(Estonian)
- HGVS: