Links from Gene
Items: 1 to 20 of 1000
1.
rs1491503376 has merged into rs59081549 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:45798510
(GRCh38)
3:45840002
(GRCh37)
- Canonical SPDI:
- NC_000003.12:45798499:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:45798499:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:45798499:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:45798499:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:45798499:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:45798499:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:45798499:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:45798499:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:45798499:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SLC6A20 (Varview), LOC107986082 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
T=0.3518/1762
(1000Genomes)
- HGVS:
NC_000003.12:g.45798510_45798514del, NC_000003.12:g.45798511_45798514del, NC_000003.12:g.45798512_45798514del, NC_000003.12:g.45798513_45798514del, NC_000003.12:g.45798514del, NC_000003.12:g.45798514dup, NC_000003.12:g.45798513_45798514dup, NC_000003.12:g.45798512_45798514dup, NC_000003.12:g.45798506_45798514dup, NC_000003.11:g.45840002_45840006del, NC_000003.11:g.45840003_45840006del, NC_000003.11:g.45840004_45840006del, NC_000003.11:g.45840005_45840006del, NC_000003.11:g.45840006del, NC_000003.11:g.45840006dup, NC_000003.11:g.45840005_45840006dup, NC_000003.11:g.45840004_45840006dup, NC_000003.11:g.45839998_45840006dup, NG_023204.1:g.3040_3044del, NG_023204.1:g.3041_3044del, NG_023204.1:g.3042_3044del, NG_023204.1:g.3043_3044del, NG_023204.1:g.3044del, NG_023204.1:g.3044dup, NG_023204.1:g.3043_3044dup, NG_023204.1:g.3042_3044dup, NG_023204.1:g.3036_3044dup
3.
rs1491408039 has merged into rs11287280 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT
[Show Flanks]
- Chromosome:
- 3:45795340
(GRCh38)
3:45836832
(GRCh37)
- Canonical SPDI:
- NC_000003.12:45795331:TTTTTTTTTT:TTTTTTTT,NC_000003.12:45795331:TTTTTTTTTT:TTTTTTTTT,NC_000003.12:45795331:TTTTTTTTTT:TTTTTTTTTTT
- Gene:
- SLC6A20 (Varview), LOC107986082 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0.000281/2
(
ALFA)
T=0.109279/1832
(TOMMO)
T=0.125/5
(GENOME_DK)
T=0.140284/257
(Korea1K)
T=0.160144/802
(1000Genomes)
T=0.192674/50999
(TOPMED)
T=0.229632/885
(ALSPAC)
T=0.238943/886
(TWINSUK)
T=0.249499/249
(GoNL)
T=0.261667/157
(NorthernSweden)
T=0.305407/1367
(Estonian)
- HGVS:
4.
rs1491172874 has merged into rs60563353 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTCTCTCTCTCTCTCT>-,CT,CTCT,CTCTCT,CTCTCTCT,CTCTCTCTCT,CTCTCTCTCTCT,CTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT
[Show Flanks]
- Chromosome:
- 3:45785631
(GRCh38)
3:45827123
(GRCh37)
- Canonical SPDI:
- NC_000003.12:45785613:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT,NC_000003.12:45785613:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT,NC_000003.12:45785613:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT,NC_000003.12:45785613:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:45785613:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:45785613:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:45785613:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:45785613:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:45785613:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:45785613:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:45785613:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:45785613:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:45785613:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:45785613:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:45785613:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:45785613:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:45785613:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:45785613:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:45785613:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:45785613:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:45785613:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:45785613:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:45785613:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:45785613:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:45785613:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:45785613:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:45785613:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:45785613:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:45785613:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT
- Gene:
- SLC6A20 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTCTCTCTCTCTCTCTCT=0./0
(
ALFA)
- HGVS:
NC_000003.12:g.45785615CT[8], NC_000003.12:g.45785615CT[9], NC_000003.12:g.45785615CT[10], NC_000003.12:g.45785615CT[11], NC_000003.12:g.45785615CT[12], NC_000003.12:g.45785615CT[13], NC_000003.12:g.45785615CT[14], NC_000003.12:g.45785615CT[15], NC_000003.12:g.45785615CT[17], NC_000003.12:g.45785615CT[18], NC_000003.12:g.45785615CT[19], NC_000003.12:g.45785615CT[20], NC_000003.12:g.45785615CT[21], NC_000003.12:g.45785615CT[22], NC_000003.12:g.45785615CT[23], NC_000003.12:g.45785615CT[24], NC_000003.12:g.45785615CT[25], NC_000003.12:g.45785615CT[26], NC_000003.12:g.45785615CT[27], NC_000003.12:g.45785615CT[28], NC_000003.12:g.45785615CT[29], NC_000003.12:g.45785615CT[30], NC_000003.12:g.45785615CT[31], NC_000003.12:g.45785615CT[32], NC_000003.12:g.45785615CT[33], NC_000003.12:g.45785615CT[34], NC_000003.12:g.45785615CT[35], NC_000003.12:g.45785615CT[36], NC_000003.12:g.45785615CT[38], NC_000003.11:g.45827107CT[8], NC_000003.11:g.45827107CT[9], NC_000003.11:g.45827107CT[10], NC_000003.11:g.45827107CT[11], NC_000003.11:g.45827107CT[12], NC_000003.11:g.45827107CT[13], NC_000003.11:g.45827107CT[14], NC_000003.11:g.45827107CT[15], NC_000003.11:g.45827107CT[17], NC_000003.11:g.45827107CT[18], NC_000003.11:g.45827107CT[19], NC_000003.11:g.45827107CT[20], NC_000003.11:g.45827107CT[21], NC_000003.11:g.45827107CT[22], NC_000003.11:g.45827107CT[23], NC_000003.11:g.45827107CT[24], NC_000003.11:g.45827107CT[25], NC_000003.11:g.45827107CT[26], NC_000003.11:g.45827107CT[27], NC_000003.11:g.45827107CT[28], NC_000003.11:g.45827107CT[29], NC_000003.11:g.45827107CT[30], NC_000003.11:g.45827107CT[31], NC_000003.11:g.45827107CT[32], NC_000003.11:g.45827107CT[33], NC_000003.11:g.45827107CT[34], NC_000003.11:g.45827107CT[35], NC_000003.11:g.45827107CT[36], NC_000003.11:g.45827107CT[38], NG_023204.1:g.15899GA[8], NG_023204.1:g.15899GA[9], NG_023204.1:g.15899GA[10], NG_023204.1:g.15899GA[11], NG_023204.1:g.15899GA[12], NG_023204.1:g.15899GA[13], NG_023204.1:g.15899GA[14], NG_023204.1:g.15899GA[15], NG_023204.1:g.15899GA[17], NG_023204.1:g.15899GA[18], NG_023204.1:g.15899GA[19], NG_023204.1:g.15899GA[20], NG_023204.1:g.15899GA[21], NG_023204.1:g.15899GA[22], NG_023204.1:g.15899GA[23], NG_023204.1:g.15899GA[24], NG_023204.1:g.15899GA[25], NG_023204.1:g.15899GA[26], NG_023204.1:g.15899GA[27], NG_023204.1:g.15899GA[28], NG_023204.1:g.15899GA[29], NG_023204.1:g.15899GA[30], NG_023204.1:g.15899GA[31], NG_023204.1:g.15899GA[32], NG_023204.1:g.15899GA[33], NG_023204.1:g.15899GA[34], NG_023204.1:g.15899GA[35], NG_023204.1:g.15899GA[36], NG_023204.1:g.15899GA[38]
5.
rs1491143178 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 3:45798499
(GRCh38)
3:45839991
(GRCh37)
- Canonical SPDI:
- NC_000003.12:45798498:CT:
- Gene:
- SLC6A20 (Varview), LOC107986082 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00001/1
(GnomAD)
- HGVS:
6.
rs1491045783 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 3:45757933
(GRCh38)
3:45799425
(GRCh37)
- Canonical SPDI:
- NC_000003.12:45757932:TG:
- Gene:
- SLC6A20 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000015/2
(GnomAD)
- HGVS:
NC_000003.12:g.45757933_45757934del, NC_000003.11:g.45799425_45799426del, NG_023204.1:g.43610_43611del, NM_020208.4:c.*1044_*1045del, NM_020208.3:c.*1044_*1045del, NM_022405.4:c.*1044_*1045del, NM_022405.3:c.*1044_*1045del, NR_176011.1:n.3020_3021del, NM_001385683.1:c.*1044_*1045del, NM_001406067.1:c.*1044_*1045del, NM_001406066.1:c.*503_*504del, NM_001406069.1:c.*503_*504del, XM_011533847.3:c.*1044_*1045del, XM_011533847.2:c.*1044_*1045del, XM_011533847.1:c.*1044_*1045del
7.
rs1491019666 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 3:45762875
(GRCh38)
3:45804367
(GRCh37)
- Canonical SPDI:
- NC_000003.12:45762871:TGTGT:TGT
- Gene:
- SLC6A20 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGT=0./0
(
ALFA)
-=0.000004/1
(GnomAD_exomes)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490963751 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:45792011
(GRCh38)
3:45833503
(GRCh37)
- Canonical SPDI:
- NC_000003.12:45792010:A:G
- Gene:
- SLC6A20 (Varview)
- Functional Consequence:
- intron_variant,genic_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)
G=0.000342/1
(KOREAN)
- HGVS:
9.
rs1490939113 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:45793221
(GRCh38)
3:45834713
(GRCh37)
- Canonical SPDI:
- NC_000003.12:45793220:C:T
- Gene:
- SLC6A20 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000023/6
(TOPMED)
T=0.000036/5
(GnomAD)
- HGVS:
10.
rs1490821918 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:45768596
(GRCh38)
3:45810088
(GRCh37)
- Canonical SPDI:
- NC_000003.12:45768595:A:G
- Gene:
- SLC6A20 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
11.
rs1490802835 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 3:45767322
(GRCh38)
3:45808814
(GRCh37)
- Canonical SPDI:
- NC_000003.12:45767321:T:A
- Gene:
- SLC6A20 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
12.
rs1490737081 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:45796399
(GRCh38)
3:45837891
(GRCh37)
- Canonical SPDI:
- NC_000003.12:45796398:C:T
- Gene:
- SLC6A20 (Varview), LOC107986082 (Varview)
- Functional Consequence:
- coding_sequence_variant,intron_variant,synonymous_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
T=0.000014/2
(GnomAD)
- HGVS:
NC_000003.12:g.45796399C>T, NC_000003.11:g.45837891C>T, NG_023204.1:g.5145G>A, NM_020208.4:c.21G>A, NM_020208.3:c.21G>A, NM_022405.4:c.21G>A, NM_022405.3:c.21G>A, NR_176011.1:n.138G>A, NM_001385683.1:c.21G>A, NM_001406067.1:c.21G>A, NM_001406066.1:c.21G>A, NM_001406069.1:c.21G>A, NR_176012.1:n.138G>A, XM_011533848.3:c.21G>A
14.
rs1490635733 has merged into rs3051640 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TCCATCCATCCATCCATCCA>-,TCCATCCA,TCCATCCATCCA,TCCATCCATCCATCCA,TCCATCCATCCATCCATCCATCCA,TCCATCCATCCATCCATCCATCCATCCA,TCCATCCATCCATCCATCCATCCATCCATCCA,TCCATCCATCCATCCATCCATCCATCCATCCATCCA
[Show Flanks]
- Chromosome:
- 3:45782642
(GRCh38)
3:45824134
(GRCh37)
- Canonical SPDI:
- NC_000003.12:45782621:TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA:TCCATCCATCCATCCATCCA,NC_000003.12:45782621:TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA:TCCATCCATCCATCCATCCATCCATCCA,NC_000003.12:45782621:TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA:TCCATCCATCCATCCATCCATCCATCCATCCA,NC_000003.12:45782621:TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA:TCCATCCATCCATCCATCCATCCATCCATCCATCCA,NC_000003.12:45782621:TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA:TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA,NC_000003.12:45782621:TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA:TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA,NC_000003.12:45782621:TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA:TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA,NC_000003.12:45782621:TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA:TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA
- Gene:
- SLC6A20 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCCATCCATCCATCCATCCATCCATCCA=0./0
(
ALFA)
-=0.3145/1212
(ALSPAC)
-=0.3161/1172
(TWINSUK)
- HGVS:
NC_000003.12:g.45782622TCCA[5], NC_000003.12:g.45782622TCCA[7], NC_000003.12:g.45782622TCCA[8], NC_000003.12:g.45782622TCCA[9], NC_000003.12:g.45782622TCCA[11], NC_000003.12:g.45782622TCCA[12], NC_000003.12:g.45782622TCCA[13], NC_000003.12:g.45782622TCCA[14], NC_000003.11:g.45824114TCCA[5], NC_000003.11:g.45824114TCCA[7], NC_000003.11:g.45824114TCCA[8], NC_000003.11:g.45824114TCCA[9], NC_000003.11:g.45824114TCCA[11], NC_000003.11:g.45824114TCCA[12], NC_000003.11:g.45824114TCCA[13], NC_000003.11:g.45824114TCCA[14], NG_023204.1:g.18883TGGA[5], NG_023204.1:g.18883TGGA[7], NG_023204.1:g.18883TGGA[8], NG_023204.1:g.18883TGGA[9], NG_023204.1:g.18883TGGA[11], NG_023204.1:g.18883TGGA[12], NG_023204.1:g.18883TGGA[13], NG_023204.1:g.18883TGGA[14]
15.
rs1490607324 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 3:45768092
(GRCh38)
3:45809584
(GRCh37)
- Canonical SPDI:
- NC_000003.12:45768091:A:G,NC_000003.12:45768091:A:T
- Gene:
- SLC6A20 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000011/3
(TOPMED)
G=0.000035/1
(TOMMO)
- HGVS:
16.
rs1490559009 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:45757913
(GRCh38)
3:45799405
(GRCh37)
- Canonical SPDI:
- NC_000003.12:45757912:C:T
- Gene:
- SLC6A20 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.01199/35
(KOREAN)
- HGVS:
NC_000003.12:g.45757913C>T, NC_000003.11:g.45799405C>T, NG_023204.1:g.43631G>A, NM_020208.4:c.*1065G>A, NM_020208.3:c.*1065G>A, NM_022405.4:c.*1065G>A, NM_022405.3:c.*1065G>A, NR_176011.1:n.3041G>A, NM_001385683.1:c.*1065G>A, NM_001406067.1:c.*1065G>A, NM_001406066.1:c.*524G>A, NM_001406069.1:c.*524G>A, XM_011533847.3:c.*1065G>A, XM_011533847.2:c.*1065G>A, XM_011533847.1:c.*1065G>A
18.
rs1490080810 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:45770278
(GRCh38)
3:45811770
(GRCh37)
- Canonical SPDI:
- NC_000003.12:45770277:G:A
- Gene:
- SLC6A20 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant,downstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
NC_000003.12:g.45770278G>A, NC_000003.11:g.45811770G>A, NG_023204.1:g.31266C>T, NM_020208.4:c.1029C>T, NM_020208.3:c.1029C>T, NM_022405.4:c.918C>T, NM_022405.3:c.918C>T, NR_176011.1:n.1226C>T, NM_001385683.1:c.1062C>T, NM_001406067.1:c.888C>T, NM_001406066.1:c.1029C>T, NM_001406069.1:c.918C>T, NR_176012.1:n.1146C>T, XM_011533847.3:c.732C>T, XM_011533847.2:c.732C>T, XM_011533847.1:c.732C>T
20.
rs1489912792 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:45786629
(GRCh38)
3:45828121
(GRCh37)
- Canonical SPDI:
- NC_000003.12:45786628:T:C
- Gene:
- SLC6A20 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS: