Links from Gene
Items: 1 to 20 of 3793
1.
rs1490971304 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:59785056
(GRCh38)
1:60250728
(GRCh37)
- Canonical SPDI:
- NC_000001.11:59785055:T:G
- Gene:
- LOC101926944 (Varview), LOC105378758 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
2.
rs1490936410 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:59784005
(GRCh38)
1:60249677
(GRCh37)
- Canonical SPDI:
- NC_000001.11:59784004:A:T
- Gene:
- LOC101926944 (Varview), LOC105378758 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
3.
rs1490753759 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:59789294
(GRCh38)
1:60254966
(GRCh37)
- Canonical SPDI:
- NC_000001.11:59789293:G:A
- Gene:
- LOC101926944 (Varview), LOC105378758 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
4.
rs1490171668 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:59774954
(GRCh38)
1:60240626
(GRCh37)
- Canonical SPDI:
- NC_000001.11:59774953:T:C
- Gene:
- LOC101926944 (Varview), LOC105378758 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
5.
rs1489997242 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:59775450
(GRCh38)
1:60241122
(GRCh37)
- Canonical SPDI:
- NC_000001.11:59775449:T:C
- Gene:
- LOC101926944 (Varview), LOC105378758 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
6.
rs1489789437 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 1:59783502
(GRCh38)
1:60249174
(GRCh37)
- Canonical SPDI:
- NC_000001.11:59783501:GGGG:GGG
- Gene:
- LOC101926944 (Varview), LOC105378758 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GGG=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
7.
rs1489689606 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:59787067
(GRCh38)
1:60252739
(GRCh37)
- Canonical SPDI:
- NC_000001.11:59787066:C:T
- Gene:
- LOC101926944 (Varview), LOC105378758 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
9.
rs1488987912 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:59777992
(GRCh38)
1:60243664
(GRCh37)
- Canonical SPDI:
- NC_000001.11:59777991:C:G
- Gene:
- LOC101926944 (Varview), LOC105378758 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
10.
rs1488847699 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:59785690
(GRCh38)
1:60251362
(GRCh37)
- Canonical SPDI:
- NC_000001.11:59785689:A:G
- Gene:
- LOC101926944 (Varview), LOC105378758 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000023/6
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
11.
rs1488656412 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:59773747
(GRCh38)
1:60239419
(GRCh37)
- Canonical SPDI:
- NC_000001.11:59773746:G:A
- Gene:
- LOC101926944 (Varview), LOC105378758 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0./0
(KOREAN)
A=0.00003/8
(TOPMED)
A=0.000035/1
(TOMMO)
A=0.001092/2
(Korea1K)
- HGVS:
12.
rs1488629931 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:59779166
(GRCh38)
1:60244838
(GRCh37)
- Canonical SPDI:
- NC_000001.11:59779165:C:G
- Gene:
- LOC101926944 (Varview), LOC105378758 (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:
13.
rs1488545439 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 1:59770795
(GRCh38)
1:60236467
(GRCh37)
- Canonical SPDI:
- NC_000001.11:59770794:T:
- Gene:
- LOC101926944 (Varview), LOC105378758 (Varview)
- Functional Consequence:
- 500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
14.
rs1487834106 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:59784479
(GRCh38)
1:60250151
(GRCh37)
- Canonical SPDI:
- NC_000001.11:59784478:G:T
- Gene:
- LOC101926944 (Varview), LOC105378758 (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:
15.
rs1487660558 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:59782131
(GRCh38)
1:60247803
(GRCh37)
- Canonical SPDI:
- NC_000001.11:59782130:T:C
- Gene:
- LOC101926944 (Varview), LOC105378758 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
17.
rs1487312700 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 1:59786999
(GRCh38)
1:60252671
(GRCh37)
- Canonical SPDI:
- NC_000001.11:59786998:T:C,NC_000001.11:59786998:T:G
- Gene:
- LOC101926944 (Varview), LOC105378758 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1486627453 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:59787376
(GRCh38)
1:60253048
(GRCh37)
- Canonical SPDI:
- NC_000001.11:59787375:A:C
- Gene:
- LOC101926944 (Varview), LOC105378758 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
19.
rs1486331568 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:59788522
(GRCh38)
1:60254194
(GRCh37)
- Canonical SPDI:
- NC_000001.11:59788521:A:C
- Gene:
- LOC101926944 (Varview), LOC105378758 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
20.
rs1486208720 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:59777318
(GRCh38)
1:60242990
(GRCh37)
- Canonical SPDI:
- NC_000001.11:59777317:T:C
- Gene:
- LOC101926944 (Varview), LOC105378758 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS: