Links from Gene
Items: 1 to 20 of 728
1.
rs1487337467 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:49310202
(GRCh38)
19:49813459
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49310201:G:A
- Gene:
- SLC6A16 (Varview), MIR4324 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.00003/8
(TOPMED)
- HGVS:
2.
rs1486419614 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:49309348
(GRCh38)
19:49812605
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49309347:G:A
- Gene:
- SLC6A16 (Varview), MIR4324 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
NC_000019.10:g.49309348G>A, NC_000019.9:g.49812605G>A, XM_005258820.4:c.940C>T, XM_005258820.3:c.940C>T, XM_005258820.2:c.940C>T, XM_005258820.1:c.940C>T, XM_006723168.4:c.940C>T, XM_006723168.3:c.940C>T, XM_006723168.2:c.940C>T, XM_006723168.1:c.940C>T, XM_011526861.4:c.499C>T, XM_011526861.3:c.499C>T, XM_011526861.2:c.499C>T, XM_011526861.1:c.499C>T, XM_011526860.3:c.1006C>T, XM_011526860.2:c.1006C>T, XM_011526860.1:c.1006C>T, NM_014037.3:c.940C>T, NM_014037.2:c.940C>T, XM_024451472.2:c.940C>T, XM_024451472.1:c.940C>T, XM_047438701.1:c.1117C>T, XM_047438702.1:c.1117C>T, XM_047438703.1:c.1009C>T, XM_047438704.1:c.499C>T, XP_005258877.1:p.Leu314Phe, XP_006723231.1:p.Leu314Phe, XP_011525163.1:p.Leu167Phe, XP_011525162.1:p.Leu336Phe, NP_054756.2:p.Leu314Phe, XP_024307240.1:p.Leu314Phe, XP_047294657.1:p.Leu373Phe, XP_047294658.1:p.Leu373Phe, XP_047294659.1:p.Leu337Phe, XP_047294660.1:p.Leu167Phe
3.
rs1486084430 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 19:49309038
(GRCh38)
19:49812295
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49309037:G:C
- Gene:
- SLC6A16 (Varview), MIR4324 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000019.10:g.49309038G>C, NC_000019.9:g.49812295G>C, XM_005258820.4:c.1067C>G, XM_005258820.3:c.1067C>G, XM_005258820.2:c.1067C>G, XM_005258820.1:c.1067C>G, XM_006723168.4:c.1067C>G, XM_006723168.3:c.1067C>G, XM_006723168.2:c.1067C>G, XM_006723168.1:c.1067C>G, XM_011526859.4:c.956C>G, XM_011526859.3:c.1202C>G, XM_011526859.2:c.1202C>G, XM_011526859.1:c.956C>G, XM_011526861.4:c.626C>G, XM_011526861.3:c.626C>G, XM_011526861.2:c.626C>G, XM_011526861.1:c.626C>G, XM_011526860.3:c.1133C>G, XM_011526860.2:c.1133C>G, XM_011526860.1:c.1133C>G, NM_014037.3:c.1067C>G, NM_014037.2:c.1067C>G, XM_024451472.2:c.1067C>G, XM_024451472.1:c.1067C>G, XM_047438701.1:c.1244C>G, XM_047438702.1:c.1244C>G, XM_047438703.1:c.1136C>G, XM_047438704.1:c.626C>G, XP_005258877.1:p.Ser356Cys, XP_006723231.1:p.Ser356Cys, XP_011525161.3:p.Ser319Cys, XP_011525163.1:p.Ser209Cys, XP_011525162.1:p.Ser378Cys, NP_054756.2:p.Ser356Cys, XP_024307240.1:p.Ser356Cys, XP_047294657.1:p.Ser415Cys, XP_047294658.1:p.Ser415Cys, XP_047294659.1:p.Ser379Cys, XP_047294660.1:p.Ser209Cys
4.
rs1485168864 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:49309637
(GRCh38)
19:49812894
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49309636:T:C
- Gene:
- SLC6A16 (Varview), MIR4324 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
5.
rs1485131790 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:49308487
(GRCh38)
19:49811744
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49308486:T:C
- Gene:
- SLC6A16 (Varview), MIR4324 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
6.
rs1485080270 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 19:49309595
(GRCh38)
19:49812852
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49309594:T:A
- Gene:
- SLC6A16 (Varview), MIR4324 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
7.
rs1484791354 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 19:49308875
(GRCh38)
19:49812132
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49308874:CC:C
- Gene:
- SLC6A16 (Varview), MIR4324 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,splice_donor_variant,upstream_transcript_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000019/5
(TOPMED)
- HGVS:
8.
rs1484575579 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 19:49309959
(GRCh38)
19:49813216
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49309958:C:A,NC_000019.10:49309958:C:T
- Gene:
- SLC6A16 (Varview), MIR4324 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000084/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
9.
rs1482825598 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:49309860
(GRCh38)
19:49813117
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49309859:A:G
- Gene:
- SLC6A16 (Varview), MIR4324 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
10.
rs1480770599 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 19:49309618
(GRCh38)
19:49812875
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49309617:A:T
- Gene:
- SLC6A16 (Varview), MIR4324 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
11.
rs1479871477 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 19:49308579
(GRCh38)
19:49811836
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49308578:C:G,NC_000019.10:49308578:C:T
- Gene:
- SLC6A16 (Varview), MIR4324 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00053/9
(TOMMO)
T=0.00137/4
(KOREAN)
- HGVS:
12.
rs1478269098 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:49309222
(GRCh38)
19:49812479
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49309221:A:G
- Gene:
- SLC6A16 (Varview), MIR4324 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,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.
rs1477851416 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:49308447
(GRCh38)
19:49811704
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49308446:C:T
- Gene:
- SLC6A16 (Varview), MIR4324 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
14.
rs1477806528 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:49310534
(GRCh38)
19:49813791
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49310533:C:T
- Gene:
- SLC6A16 (Varview), MIR4324 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
T=0.000008/2
(GnomAD_exomes)
- HGVS:
16.
rs1469889421 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:49309604
(GRCh38)
19:49812861
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49309603:G:A
- Gene:
- SLC6A16 (Varview), MIR4324 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
17.
rs1469877305 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:49310723
(GRCh38)
19:49813980
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49310722:T:C
- Gene:
- SLC6A16 (Varview), MIR4324 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,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:
18.
rs1466382174 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 19:49309768
(GRCh38)
19:49813025
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49309767:C:A
- Gene:
- SLC6A16 (Varview), MIR4324 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.000007/1
(GnomAD)
- HGVS:
NC_000019.10:g.49309768C>A, NC_000019.9:g.49813025C>A, XM_005258820.4:c.759G>T, XM_005258820.3:c.759G>T, XM_005258820.2:c.759G>T, XM_005258820.1:c.759G>T, XM_006723168.4:c.759G>T, XM_006723168.3:c.759G>T, XM_006723168.2:c.759G>T, XM_006723168.1:c.759G>T, XM_011526859.4:c.759G>T, XM_011526859.3:c.1005G>T, XM_011526859.2:c.1005G>T, XM_011526859.1:c.759G>T, XM_011526861.4:c.318G>T, XM_011526861.3:c.318G>T, XM_011526861.2:c.318G>T, XM_011526861.1:c.318G>T, XM_011526860.3:c.825G>T, XM_011526860.2:c.825G>T, XM_011526860.1:c.825G>T, NM_014037.3:c.759G>T, NM_014037.2:c.759G>T, XM_024451472.2:c.759G>T, XM_024451472.1:c.759G>T, XM_047438701.1:c.936G>T, XM_047438702.1:c.936G>T, XM_047438703.1:c.828G>T, XM_047438704.1:c.318G>T, XP_005258877.1:p.Lys253Asn, XP_006723231.1:p.Lys253Asn, XP_011525161.3:p.Lys253Asn, XP_011525163.1:p.Lys106Asn, XP_011525162.1:p.Lys275Asn, NP_054756.2:p.Lys253Asn, XP_024307240.1:p.Lys253Asn, XP_047294657.1:p.Lys312Asn, XP_047294658.1:p.Lys312Asn, XP_047294659.1:p.Lys276Asn, XP_047294660.1:p.Lys106Asn
19.
rs1465752584 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:49308551
(GRCh38)
19:49811808
(GRCh37)
- Canonical SPDI:
- NC_000019.10:49308550:T:C
- Gene:
- SLC6A16 (Varview), MIR4324 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS: