Links from Gene
Items: 1 to 20 of 7240
2.
rs1490995880 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:125069068
(GRCh38)
11:124938964
(GRCh37)
- Canonical SPDI:
- NC_000011.10:125069067:G:A
- Gene:
- SLC37A2 (Varview)
- Functional Consequence:
- intron_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.
rs1490949193 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 11:125085341
(GRCh38)
11:124955237
(GRCh37)
- Canonical SPDI:
- NC_000011.10:125085340:T:G
- Gene:
- SLC37A2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
4.
rs1490833468 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:125090656
(GRCh38)
11:124960552
(GRCh37)
- Canonical SPDI:
- NC_000011.10:125090655:T:C
- Gene:
- SLC37A2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
5.
rs1490810210 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:125077035
(GRCh38)
11:124946931
(GRCh37)
- Canonical SPDI:
- NC_000011.10:125077034:C:G
- Gene:
- SLC37A2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
6.
rs1490764587 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:125066496
(GRCh38)
11:124936392
(GRCh37)
- Canonical SPDI:
- NC_000011.10:125066495:T:C
- Gene:
- SLC37A2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
7.
rs1490753772 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:125061879
(GRCh38)
11:124931775
(GRCh37)
- Canonical SPDI:
- NC_000011.10:125061878:C:G
- Gene:
- SLC37A2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490702951 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:125076165
(GRCh38)
11:124946061
(GRCh37)
- Canonical SPDI:
- NC_000011.10:125076164:T:C
- Gene:
- SLC37A2 (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:
9.
rs1490671196 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 11:125067946
(GRCh38)
11:124937842
(GRCh37)
- Canonical SPDI:
- NC_000011.10:125067945:A:C
- Gene:
- SLC37A2 (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:
10.
rs1490589085 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:125062380
(GRCh38)
11:124932276
(GRCh37)
- Canonical SPDI:
- NC_000011.10:125062379:T:C
- Gene:
- SLC37A2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000019/5
(TOPMED)
- HGVS:
11.
rs1490532831 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:125061224
(GRCh38)
11:124931120
(GRCh37)
- Canonical SPDI:
- NC_000011.10:125061223:A:G
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
12.
rs1490354621 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:125085299
(GRCh38)
11:124955195
(GRCh37)
- Canonical SPDI:
- NC_000011.10:125085298:C:G
- Gene:
- SLC37A2 (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.
rs1489982089 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 11:125086750
(GRCh38)
11:124956646
(GRCh37)
- Canonical SPDI:
- NC_000011.10:125086749:G:C
- Gene:
- SLC37A2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
14.
rs1489925134 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:125080884
(GRCh38)
11:124950780
(GRCh37)
- Canonical SPDI:
- NC_000011.10:125080883:A:G
- Gene:
- SLC37A2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
15.
rs1489899897 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:125078661
(GRCh38)
11:124948557
(GRCh37)
- Canonical SPDI:
- NC_000011.10:125078660:A:G
- Gene:
- SLC37A2 (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:
17.
rs1489751301 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 11:125062828
(GRCh38)
11:124932724
(GRCh37)
- Canonical SPDI:
- NC_000011.10:125062827:C:A,NC_000011.10:125062827:C:G,NC_000011.10:125062827:C:T
- Gene:
- SLC37A2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.00016/1
(1000Genomes)
- HGVS:
18.
rs1489668959 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 11:125087545
(GRCh38)
11:124957441
(GRCh37)
- Canonical SPDI:
- NC_000011.10:125087544:G:
- Gene:
- SLC37A2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.0002/1
(
ALFA)
-=0.0002/1
(Estonian)
- HGVS:
19.
rs1489484431 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 11:125079348
(GRCh38)
11:124949244
(GRCh37)
- Canonical SPDI:
- NC_000011.10:125079347:T:A
- Gene:
- SLC37A2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
20.
rs1489431923 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:125061397
(GRCh38)
11:124931293
(GRCh37)
- Canonical SPDI:
- NC_000011.10:125061396:C:T
- Gene:
- SLC37A2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS: