Links from Gene
Items: 1 to 20 of 3194
1.
rs1490874783 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:173446348
(GRCh38)
2:174311076
(GRCh37)
- Canonical SPDI:
- NC_000002.12:173446347:A:G
- Gene:
- LOC105373744 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
2.
rs1490658623 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:173446885
(GRCh38)
2:174311613
(GRCh37)
- Canonical SPDI:
- NC_000002.12:173446884:T:C
- Gene:
- LOC105373744 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
- HGVS:
3.
rs1490512586 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:173444004
(GRCh38)
2:174308732
(GRCh37)
- Canonical SPDI:
- NC_000002.12:173444003:T:C
- Gene:
- LOC105373744 (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:
4.
rs1490383700 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:173445782
(GRCh38)
2:174310510
(GRCh37)
- Canonical SPDI:
- NC_000002.12:173445781:A:G
- Gene:
- LOC105373744 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
5.
rs1490289521 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:173443085
(GRCh38)
2:174307813
(GRCh37)
- Canonical SPDI:
- NC_000002.12:173443084:C:T
- Gene:
- LOC105373744 (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)
T=0.000106/2
(TOMMO)
- HGVS:
6.
rs1489964274 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 2:173440510
(GRCh38)
2:174305238
(GRCh37)
- Canonical SPDI:
- NC_000002.12:173440509:C:G,NC_000002.12:173440509:C:T
- Gene:
- LOC105373744 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
7.
rs1489771259 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 2:173436194
(GRCh38)
2:174300922
(GRCh37)
- Canonical SPDI:
- NC_000002.12:173436193:G:C
- Gene:
- LOC105373744 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
8.
rs1489405890 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:173437555
(GRCh38)
2:174302283
(GRCh37)
- Canonical SPDI:
- NC_000002.12:173437554:G:A
- Gene:
- LOC105373744 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000021/3
(GnomAD)
A=0.000035/1
(TOMMO)
- HGVS:
9.
rs1489293221 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:173437529
(GRCh38)
2:174302257
(GRCh37)
- Canonical SPDI:
- NC_000002.12:173437528:G:A
- Gene:
- LOC105373744 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
10.
rs1489285927 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:173441005
(GRCh38)
2:174305733
(GRCh37)
- Canonical SPDI:
- NC_000002.12:173441004:G:A
- Gene:
- LOC105373744 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
11.
rs1489077883 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 2:173444126
(GRCh38)
2:174308854
(GRCh37)
- Canonical SPDI:
- NC_000002.12:173444125:C:G
- Gene:
- LOC105373744 (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:
12.
rs1489057746 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:173448099
(GRCh38)
2:174312827
(GRCh37)
- Canonical SPDI:
- NC_000002.12:173448098:C:T
- Gene:
- LOC105373744 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000023/6
(TOPMED)
T=0.000156/1
(1000Genomes)
- HGVS:
13.
rs1488831101 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 2:173438366
(GRCh38)
2:174303094
(GRCh37)
- Canonical SPDI:
- NC_000002.12:173438365:T:G
- Gene:
- LOC105373744 (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:
15.
rs1488420254 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:173446804
(GRCh38)
2:174311532
(GRCh37)
- Canonical SPDI:
- NC_000002.12:173446803:G:A
- Gene:
- LOC105373744 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1488300820 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 2:173441223
(GRCh38)
2:174305951
(GRCh37)
- Canonical SPDI:
- NC_000002.12:173441222:C:A
- Gene:
- LOC105373744 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
17.
rs1487974395 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:173445697
(GRCh38)
2:174310425
(GRCh37)
- Canonical SPDI:
- NC_000002.12:173445696:G:A
- Gene:
- LOC105373744 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
18.
rs1487924780 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:173446354
(GRCh38)
2:174311082
(GRCh37)
- Canonical SPDI:
- NC_000002.12:173446353:G:A
- Gene:
- LOC105373744 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
19.
rs1487786799 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:173438424
(GRCh38)
2:174303152
(GRCh37)
- Canonical SPDI:
- NC_000002.12:173438423:G:A
- Gene:
- LOC105373744 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000057/8
(GnomAD)
A=0.000087/23
(TOPMED)
A=0.000312/2
(1000Genomes)
- HGVS:
20.
rs1487553409 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:173442578
(GRCh38)
2:174307306
(GRCh37)
- Canonical SPDI:
- NC_000002.12:173442577:A:G
- Gene:
- LOC105373744 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS: