Links from Gene
Items: 1 to 20 of 1000
1.
rs1490168393 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:474115
(GRCh38)
5:474230
(GRCh37)
- Canonical SPDI:
- NC_000005.10:474114:C:T
- Gene:
- SLC9A3 (Varview), PP7080 (Varview), SLC9A3-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
2.
rs1490004997 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:473812
(GRCh38)
5:473927
(GRCh37)
- Canonical SPDI:
- NC_000005.10:473811:G:A
- Gene:
- SLC9A3 (Varview), PP7080 (Varview), SLC9A3-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
3.
rs1489699721 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 5:479367
(GRCh38)
5:479482
(GRCh37)
- Canonical SPDI:
- NC_000005.10:479366:G:A,NC_000005.10:479366:G:T
- Gene:
- SLC9A3 (Varview), SLC9A3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
4.
rs1489600690 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 5:472142
(GRCh38)
5:472257
(GRCh37)
- Canonical SPDI:
- NC_000005.10:472141:A:C
- Gene:
- SLC9A3 (Varview), PP7080 (Varview), SLC9A3-AS1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
5.
rs1489530815 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:475840
(GRCh38)
5:475955
(GRCh37)
- Canonical SPDI:
- NC_000005.10:475839:C:T
- Gene:
- SLC9A3 (Varview), SLC9A3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
7.
rs1489077548 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 5:474096
(GRCh38)
5:474211
(GRCh37)
- Canonical SPDI:
- NC_000005.10:474095:G:A,NC_000005.10:474095:G:C
- Gene:
- SLC9A3 (Varview), PP7080 (Varview), SLC9A3-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
C=0.000035/1
(TOMMO)
- HGVS:
8.
rs1489047328 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:475930
(GRCh38)
5:476045
(GRCh37)
- Canonical SPDI:
- NC_000005.10:475929:T:C
- Gene:
- SLC9A3 (Varview), SLC9A3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
9.
rs1488817510 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 5:478915
(GRCh38)
5:479030
(GRCh37)
- Canonical SPDI:
- NC_000005.10:478914:C:A
- Gene:
- SLC9A3 (Varview), SLC9A3-AS1 (Varview)
- Functional Consequence:
- 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:
10.
rs1488676523 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:471470
(GRCh38)
5:471585
(GRCh37)
- Canonical SPDI:
- NC_000005.10:471469:A:G
- Gene:
- SLC9A3 (Varview), PP7080 (Varview), SLC9A3-AS1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
11.
rs1488390871 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACCA>-
[Show Flanks]
- Chromosome:
- 5:474203
(GRCh38)
5:474318
(GRCh37)
- Canonical SPDI:
- NC_000005.10:474201:AACCA:A
- Gene:
- SLC9A3 (Varview), PP7080 (Varview), SLC9A3-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.00004/1
(TOMMO)
- HGVS:
12.
rs1487949498 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:476121
(GRCh38)
5:476236
(GRCh37)
- Canonical SPDI:
- NC_000005.10:476120:C:T
- Gene:
- SLC9A3 (Varview), SLC9A3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000224/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
13.
rs1487866012 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGG>-
[Show Flanks]
- Chromosome:
- 5:480326
(GRCh38)
5:480441
(GRCh37)
- Canonical SPDI:
- NC_000005.10:480324:GTGG:G
- Gene:
- SLC9A3 (Varview), SLC9A3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
14.
rs1487569847 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTAGGGTCACCGGG>-
[Show Flanks]
- Chromosome:
- 5:475229
(GRCh38)
5:475344
(GRCh37)
- Canonical SPDI:
- NC_000005.10:475227:GTTAGGGTCACCGGG:G
- Gene:
- SLC9A3 (Varview), SLC9A3-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
16.
rs1486905964 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 5:473012
(GRCh38)
5:473127
(GRCh37)
- Canonical SPDI:
- NC_000005.10:473011:C:A,NC_000005.10:473011:C:T
- Gene:
- SLC9A3 (Varview), PP7080 (Varview), SLC9A3-AS1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
NC_000005.10:g.473012C>A, NC_000005.10:g.473012C>T, NC_000005.9:g.473127C>A, NC_000005.9:g.473127C>T, NG_046804.1:g.102417G>T, NG_046804.1:g.102417G>A, NM_004174.4:c.*367G>T, NM_004174.4:c.*367G>A, NM_004174.3:c.*367G>T, NM_004174.3:c.*367G>A, NM_001284351.3:c.*367G>T, NM_001284351.3:c.*367G>A, NM_001284351.2:c.*367G>T, NM_001284351.2:c.*367G>A, NM_015389.1:c.-77G>T, NM_015389.1:c.-77G>A
18.
rs1486525436 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:479125
(GRCh38)
5:479240
(GRCh37)
- Canonical SPDI:
- NC_000005.10:479124:C:T
- Gene:
- SLC9A3 (Varview), SLC9A3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000038/10
(TOPMED)
- HGVS:
19.
rs1486223199 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 5:472406
(GRCh38)
5:472521
(GRCh37)
- Canonical SPDI:
- NC_000005.10:472405:C:G
- Gene:
- SLC9A3 (Varview), PP7080 (Varview), SLC9A3-AS1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
20.
rs1485551108 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 5:479604
(GRCh38)
5:479719
(GRCh37)
- Canonical SPDI:
- NC_000005.10:479603:C:G,NC_000005.10:479603:C:T
- Gene:
- SLC9A3 (Varview), SLC9A3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00034/1
(KOREAN)
T=0.01402/3
(Vietnamese)
- HGVS: