Links from Gene
Items: 1 to 20 of 10376
1.
rs1491536732 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-,CC
[Show Flanks]
- Chromosome:
- 6:160245882
(GRCh38)
6:160666914
(GRCh37)
- Canonical SPDI:
- NC_000006.12:160245881:CCCC:CCC,NC_000006.12:160245881:CCCC:CCCCC
- Gene:
- SLC22A2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000008/1
(GnomAD)
...more- HGVS:
2.
rs1491439718 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- 6:160245881
(GRCh38)
6:160666913
(GRCh37)
- Canonical SPDI:
- NC_000006.12:160245880:TC:
- Gene:
- SLC22A2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
3.
rs1491069071 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T,TT
[Show Flanks]
- Chromosome:
- 6:160256900
(GRCh38)
6:160677933
(GRCh37)
- Canonical SPDI:
- NC_000006.12:160256900:T:TT,NC_000006.12:160256900:T:TTT
- Gene:
- SLC22A2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0.00202/24
(
ALFA)
T=0.00085/14
(TOMMO)
T=0.00478/260
(GnomAD)
...more- HGVS:
4.
rs1490954242 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:160250350
(GRCh38)
6:160671382
(GRCh37)
- Canonical SPDI:
- NC_000006.12:160250349:C:T
- Gene:
- SLC22A2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
5.
rs1490940747 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:160234861
(GRCh38)
6:160655893
(GRCh37)
- Canonical SPDI:
- NC_000006.12:160234860:C:T
- Gene:
- SLC22A2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0./0
(KOREAN)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
...more- HGVS:
6.
rs1490854728 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:160219140
(GRCh38)
6:160640172
(GRCh37)
- Canonical SPDI:
- NC_000006.12:160219139:A:G
- Gene:
- SLC22A2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00684/20
(KOREAN)
- HGVS:
7.
rs1490822606 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 6:160228353
(GRCh38)
6:160649385
(GRCh37)
- Canonical SPDI:
- NC_000006.12:160228352:C:A
- Gene:
- SLC22A2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
...more- HGVS:
8.
rs1490738374 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:160243199
(GRCh38)
6:160664231
(GRCh37)
- Canonical SPDI:
- NC_000006.12:160243198:T:C
- Gene:
- SLC22A2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000142/2
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000015/4
(TOPMED)
...more- HGVS:
9.
rs1490686222 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGT>-
[Show Flanks]
- Chromosome:
- 6:160242233
(GRCh38)
6:160663265
(GRCh37)
- Canonical SPDI:
- NC_000006.12:160242227:GTGGTGGT:GTGGT
- Gene:
- SLC22A2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGGT=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
...more- HGVS:
10.
rs1490573219 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 6:160242701
(GRCh38)
6:160663733
(GRCh37)
- Canonical SPDI:
- NC_000006.12:160242700:C:G
- Gene:
- SLC22A2 (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)
...more- HGVS:
11.
rs1490523515 has merged into rs10532482 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATATA>-,TA,TATA,TATATATA,TATATATATA
[Show Flanks]
- Chromosome:
- 6:160241890
(GRCh38)
6:160662922
(GRCh37)
- Canonical SPDI:
- NC_000006.12:160241877:TATATATATATATATATA:TATATATATATA,NC_000006.12:160241877:TATATATATATATATATA:TATATATATATATA,NC_000006.12:160241877:TATATATATATATATATA:TATATATATATATATA,NC_000006.12:160241877:TATATATATATATATATA:TATATATATATATATATATA,NC_000006.12:160241877:TATATATATATATATATA:TATATATATATATATATATATA
- Gene:
- SLC22A2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATATATATATATA=0./0
(
ALFA)
TATA=0.1821/767
(1000Genomes)
TATA=0.2372/914
(ALSPAC)
...more- HGVS:
12.
rs1490494597 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 6:160222343
(GRCh38)
6:160643375
(GRCh37)
- Canonical SPDI:
- NC_000006.12:160222342:T:A
- Gene:
- SLC22A2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490462807 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:160259474
(GRCh38)
6:160680506
(GRCh37)
- Canonical SPDI:
- NC_000006.12:160259473:G:A
- Gene:
- SLC22A2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
14.
rs1490426329 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 6:160221008
(GRCh38)
6:160642040
(GRCh37)
- Canonical SPDI:
- NC_000006.12:160221007:G:C
- Gene:
- SLC22A2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.00003/8
(TOPMED)
- HGVS:
15.
rs1490425499 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 6:160234022
(GRCh38)
6:160655054
(GRCh37)
- Canonical SPDI:
- NC_000006.12:160234021:T:G
- Gene:
- SLC22A2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
G=0.000021/3
(GnomAD)
...more- HGVS:
16.
rs1490240800 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:160257662
(GRCh38)
6:160678694
(GRCh37)
- Canonical SPDI:
- NC_000006.12:160257661:C:T
- Gene:
- SLC22A2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
17.
rs1490173246 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:160218916
(GRCh38)
6:160639948
(GRCh37)
- Canonical SPDI:
- NC_000006.12:160218915:C:T
- Gene:
- SLC22A2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00051/6
(
ALFA)
T=0.07974/233
(KOREAN)
- HGVS:
19.
rs1490119948 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:160239748
(GRCh38)
6:160660780
(GRCh37)
- Canonical SPDI:
- NC_000006.12:160239747:C:T
- Gene:
- SLC22A2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
20.
rs1490071930 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:160220899
(GRCh38)
6:160641931
(GRCh37)
- Canonical SPDI:
- NC_000006.12:160220898:C:T
- Gene:
- SLC22A2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS: