Links from Gene
Items: 1 to 20 of 1000
1.
rs1491525647 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-
[Show Flanks]
- Chromosome:
- 1:205680060
(GRCh38)
1:205649188
(GRCh37)
- Canonical SPDI:
- NC_000001.11:205680057:GGGG:GG
- Gene:
- SLC45A3 (Varview), LOC105371701 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGG=0.00268/12
(
ALFA)
-=0.00032/5
(TOMMO)
-=0.00113/2
(Korea1K)
-=0.00246/11
(Estonian)
- HGVS:
2.
rs1491484361 has merged into rs57508315 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:205674612
(GRCh38)
1:205643740
(GRCh37)
- Canonical SPDI:
- NC_000001.11:205674602:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:205674602:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:205674602:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:205674602:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:205674602:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:205674602:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:205674602:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:205674602:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:205674602:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:205674602:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:205674602:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:205674602:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:205674602:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205674602:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205674602:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205674602:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205674602:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205674602:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205674602:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205674602:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205674602:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205674602:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205674602:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SLC45A3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
-=0.2254/78
(NorthernSweden)
- HGVS:
NC_000001.11:g.205674612_205674628del, NC_000001.11:g.205674613_205674628del, NC_000001.11:g.205674614_205674628del, NC_000001.11:g.205674615_205674628del, NC_000001.11:g.205674616_205674628del, NC_000001.11:g.205674617_205674628del, NC_000001.11:g.205674618_205674628del, NC_000001.11:g.205674619_205674628del, NC_000001.11:g.205674620_205674628del, NC_000001.11:g.205674621_205674628del, NC_000001.11:g.205674622_205674628del, NC_000001.11:g.205674623_205674628del, NC_000001.11:g.205674624_205674628del, NC_000001.11:g.205674625_205674628del, NC_000001.11:g.205674626_205674628del, NC_000001.11:g.205674627_205674628del, NC_000001.11:g.205674628del, NC_000001.11:g.205674628dup, NC_000001.11:g.205674627_205674628dup, NC_000001.11:g.205674626_205674628dup, NC_000001.11:g.205674625_205674628dup, NC_000001.11:g.205674624_205674628dup, NC_000001.11:g.205674623_205674628dup, NC_000001.10:g.205643740_205643756del, NC_000001.10:g.205643741_205643756del, NC_000001.10:g.205643742_205643756del, NC_000001.10:g.205643743_205643756del, NC_000001.10:g.205643744_205643756del, NC_000001.10:g.205643745_205643756del, NC_000001.10:g.205643746_205643756del, NC_000001.10:g.205643747_205643756del, NC_000001.10:g.205643748_205643756del, NC_000001.10:g.205643749_205643756del, NC_000001.10:g.205643750_205643756del, NC_000001.10:g.205643751_205643756del, NC_000001.10:g.205643752_205643756del, NC_000001.10:g.205643753_205643756del, NC_000001.10:g.205643754_205643756del, NC_000001.10:g.205643755_205643756del, NC_000001.10:g.205643756del, NC_000001.10:g.205643756dup, NC_000001.10:g.205643755_205643756dup, NC_000001.10:g.205643754_205643756dup, NC_000001.10:g.205643753_205643756dup, NC_000001.10:g.205643752_205643756dup, NC_000001.10:g.205643751_205643756dup
3.
rs1491381908 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CCCAG,CCCCG
[Show Flanks]
- Chromosome:
- 1:205680058
(GRCh38)
1:205649187
(GRCh37)
- Canonical SPDI:
- NC_000001.11:205680058:G:GCCCAG,NC_000001.11:205680058:G:GCCCCG
- Gene:
- SLC45A3 (Varview), LOC105371701 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCCCAG=0./0
(
ALFA)
GCCCA=0.000004/1
(TOPMED)
GCCCA=0.000564/1
(Korea1K)
- HGVS:
4.
rs1491258924 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 1:205674602
(GRCh38)
1:205643730
(GRCh37)
- Canonical SPDI:
- NC_000001.11:205674601:CA:
- Gene:
- SLC45A3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00051/6
(
ALFA)
-=0.00004/1
(TOMMO)
- HGVS:
5.
rs1491075606 has merged into rs1340509373 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-,GG
[Show Flanks]
- Chromosome:
- 1:205658645
(GRCh38)
1:205627773
(GRCh37)
- Canonical SPDI:
- NC_000001.11:205658644:GGGGGG:GGGGG,NC_000001.11:205658644:GGGGGG:GGGGGGG
- Gene:
- SLC45A3 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGG=0.00005/1
(
ALFA)
-=0.00022/1
(Estonian)
- HGVS:
6.
rs1490933547 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:205668938
(GRCh38)
1:205638066
(GRCh37)
- Canonical SPDI:
- NC_000001.11:205668937:A:G
- Gene:
- SLC45A3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000312/2
(1000Genomes)
- HGVS:
7.
rs1490905649 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:205662416
(GRCh38)
1:205631544
(GRCh37)
- Canonical SPDI:
- NC_000001.11:205662415:C:T
- Gene:
- SLC45A3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000108/2
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000023/6
(TOPMED)
T=0.000446/2
(Estonian)
- HGVS:
8.
rs1490503669 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:205677141
(GRCh38)
1:205646269
(GRCh37)
- Canonical SPDI:
- NC_000001.11:205677140:C:T
- Gene:
- SLC45A3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
9.
rs1490372968 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:205675981
(GRCh38)
1:205645109
(GRCh37)
- Canonical SPDI:
- NC_000001.11:205675980:G:T
- Gene:
- SLC45A3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490305146 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 1:205658645
(GRCh38)
1:205627773
(GRCh37)
- Canonical SPDI:
- NC_000001.11:205658644:G:A,NC_000001.11:205658644:G:C,NC_000001.11:205658644:G:T
- Gene:
- SLC45A3 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000057/8
(GnomAD)
G=0.5/1
(SGDP_PRJ)
- HGVS:
NC_000001.11:g.205658645G>A, NC_000001.11:g.205658645G>C, NC_000001.11:g.205658645G>T, NC_000001.10:g.205627773G>A, NC_000001.10:g.205627773G>C, NC_000001.10:g.205627773G>T, NM_033102.3:c.*589C>T, NM_033102.3:c.*589C>G, NM_033102.3:c.*589C>A, NM_033102.2:c.*589C>T, NM_033102.2:c.*589C>G, NM_033102.2:c.*589C>A
11.
rs1490195509 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGGAACAGGCAGA>-
[Show Flanks]
- Chromosome:
- 1:205660559
(GRCh38)
1:205629687
(GRCh37)
- Canonical SPDI:
- NC_000001.11:205660557:AAGGAACAGGCAGA:A
- Gene:
- SLC45A3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
12.
rs1489956753 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:205667805
(GRCh38)
1:205636933
(GRCh37)
- Canonical SPDI:
- NC_000001.11:205667804:C:T
- Gene:
- SLC45A3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
13.
rs1489759450 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:205659342
(GRCh38)
1:205628470
(GRCh37)
- Canonical SPDI:
- NC_000001.11:205659341:C:T
- Gene:
- SLC45A3 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1489703023 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:205681708
(GRCh38)
1:205650836
(GRCh37)
- Canonical SPDI:
- NC_000001.11:205681707:G:A
- Gene:
- SLC45A3 (Varview), LOC105371701 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
15.
rs1489539168 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:205663470
(GRCh38)
1:205632598
(GRCh37)
- Canonical SPDI:
- NC_000001.11:205663469:G:C
- Gene:
- SLC45A3 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
16.
rs1489518790 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:205663613
(GRCh38)
1:205632741
(GRCh37)
- Canonical SPDI:
- NC_000001.11:205663612:C:A
- Gene:
- SLC45A3 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000043/1
(
ALFA)
A=0.000014/3
(GnomAD_exomes)
A=0.000019/5
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
17.
rs1489274263 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:205662572
(GRCh38)
1:205631700
(GRCh37)
- Canonical SPDI:
- NC_000001.11:205662571:T:G
- Gene:
- SLC45A3 (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:
18.
rs1488939415 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:205670434
(GRCh38)
1:205639562
(GRCh37)
- Canonical SPDI:
- NC_000001.11:205670433:A:G
- Gene:
- SLC45A3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
19.
rs1488539126 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:205675811
(GRCh38)
1:205644939
(GRCh37)
- Canonical SPDI:
- NC_000001.11:205675810:C:T
- Gene:
- SLC45A3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
20.
rs1488436438 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:205661563
(GRCh38)
1:205630691
(GRCh37)
- Canonical SPDI:
- NC_000001.11:205661562:G:A
- Gene:
- SLC45A3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS: