Links from Gene
Items: 1 to 20 of 1190
1.
rs1491045666 has merged into rs71820531 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- X:119471786
(GRCh38)
X:118605749
(GRCh37)
- Canonical SPDI:
- NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SLC25A5 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
TTTTTTTTTTTTTTTTTT=0.2948/1113
(1000Genomes)
- HGVS:
NC_000023.11:g.119471786_119471804del, NC_000023.11:g.119471787_119471804del, NC_000023.11:g.119471788_119471804del, NC_000023.11:g.119471789_119471804del, NC_000023.11:g.119471790_119471804del, NC_000023.11:g.119471791_119471804del, NC_000023.11:g.119471792_119471804del, NC_000023.11:g.119471793_119471804del, NC_000023.11:g.119471794_119471804del, NC_000023.11:g.119471795_119471804del, NC_000023.11:g.119471796_119471804del, NC_000023.11:g.119471797_119471804del, NC_000023.11:g.119471798_119471804del, NC_000023.11:g.119471799_119471804del, NC_000023.11:g.119471800_119471804del, NC_000023.11:g.119471802_119471804del, NC_000023.11:g.119471803_119471804del, NC_000023.11:g.119471804del, NC_000023.11:g.119471804dup, NC_000023.11:g.119471803_119471804dup, NC_000023.11:g.119471802_119471804dup, NC_000023.11:g.119471801_119471804dup, NC_000023.11:g.119471800_119471804dup, NC_000023.11:g.119471799_119471804dup, NC_000023.11:g.119471798_119471804dup, NC_000023.11:g.119471797_119471804dup, NC_000023.11:g.119471796_119471804dup, NC_000023.11:g.119471795_119471804dup, NC_000023.10:g.118605749_118605767del, NC_000023.10:g.118605750_118605767del, NC_000023.10:g.118605751_118605767del, NC_000023.10:g.118605752_118605767del, NC_000023.10:g.118605753_118605767del, NC_000023.10:g.118605754_118605767del, NC_000023.10:g.118605755_118605767del, NC_000023.10:g.118605756_118605767del, NC_000023.10:g.118605757_118605767del, NC_000023.10:g.118605758_118605767del, NC_000023.10:g.118605759_118605767del, NC_000023.10:g.118605760_118605767del, NC_000023.10:g.118605761_118605767del, NC_000023.10:g.118605762_118605767del, NC_000023.10:g.118605763_118605767del, NC_000023.10:g.118605765_118605767del, NC_000023.10:g.118605766_118605767del, NC_000023.10:g.118605767del, NC_000023.10:g.118605767dup, NC_000023.10:g.118605766_118605767dup, NC_000023.10:g.118605765_118605767dup, NC_000023.10:g.118605764_118605767dup, NC_000023.10:g.118605763_118605767dup, NC_000023.10:g.118605762_118605767dup, NC_000023.10:g.118605761_118605767dup, NC_000023.10:g.118605760_118605767dup, NC_000023.10:g.118605759_118605767dup, NC_000023.10:g.118605758_118605767dup, NG_013262.1:g.8387_8405del, NG_013262.1:g.8388_8405del, NG_013262.1:g.8389_8405del, NG_013262.1:g.8390_8405del, NG_013262.1:g.8391_8405del, NG_013262.1:g.8392_8405del, NG_013262.1:g.8393_8405del, NG_013262.1:g.8394_8405del, NG_013262.1:g.8395_8405del, NG_013262.1:g.8396_8405del, NG_013262.1:g.8397_8405del, NG_013262.1:g.8398_8405del, NG_013262.1:g.8399_8405del, NG_013262.1:g.8400_8405del, NG_013262.1:g.8401_8405del, NG_013262.1:g.8403_8405del, NG_013262.1:g.8404_8405del, NG_013262.1:g.8405del, NG_013262.1:g.8405dup, NG_013262.1:g.8404_8405dup, NG_013262.1:g.8403_8405dup, NG_013262.1:g.8402_8405dup, NG_013262.1:g.8401_8405dup, NG_013262.1:g.8400_8405dup, NG_013262.1:g.8399_8405dup, NG_013262.1:g.8398_8405dup, NG_013262.1:g.8397_8405dup, NG_013262.1:g.8396_8405dup
2.
rs1490780391 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:119469227
(GRCh38)
X:118603190
(GRCh37)
- Canonical SPDI:
- NC_000023.11:119469226:A:G
- Gene:
- SLC25A5 (Varview), SLC25A5-AS1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00099/15
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000096/10
(GnomAD)
- HGVS:
3.
rs1490774930 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:119471447
(GRCh38)
X:118605410
(GRCh37)
- Canonical SPDI:
- NC_000023.11:119471446:T:C
- Gene:
- SLC25A5 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000019/2
(GnomAD)
- HGVS:
4.
rs1490676145 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:119471278
(GRCh38)
X:118605241
(GRCh37)
- Canonical SPDI:
- NC_000023.11:119471277:G:A
- Gene:
- SLC25A5 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000169/2
(
ALFA)
A=0.000009/1
(GnomAD)
- HGVS:
5.
rs1490186047 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- X:119470838
(GRCh38)
X:118604801
(GRCh37)
- Canonical SPDI:
- NC_000023.11:119470837:T:G
- Gene:
- SLC25A5 (Varview), SLC25A5-AS1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
6.
rs1489796443 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:119469477
(GRCh38)
X:118603440
(GRCh37)
- Canonical SPDI:
- NC_000023.11:119469476:A:G
- Gene:
- SLC25A5 (Varview), SLC25A5-AS1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00001/1
(GnomAD)
G=0.000026/7
(TOPMED)
- HGVS:
7.
rs1489024496 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- X:119469023
(GRCh38)
X:118602986
(GRCh37)
- Canonical SPDI:
- NC_000023.11:119469022:G:A,NC_000023.11:119469022:G:T
- Gene:
- SLC25A5 (Varview), SLC25A5-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
10.
rs1487623073 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- X:119467285
(GRCh38)
X:118601248
(GRCh37)
- Canonical SPDI:
- NC_000023.11:119467284:G:A,NC_000023.11:119467284:G:T
- Gene:
- SLC25A5 (Varview), SLC25A5-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
T=0.00004/1
(TOMMO)
- HGVS:
NC_000023.11:g.119467285G>A, NC_000023.11:g.119467285G>T, NC_000023.10:g.118601248G>A, NC_000023.10:g.118601248G>T, NG_013262.1:g.3886G>A, NG_013262.1:g.3886G>T, NR_028443.1:n.1836C>T, NR_028443.1:n.1836C>A, NR_134915.1:n.623C>T, NR_134915.1:n.623C>A, NR_134914.1:n.755C>T, NR_134914.1:n.755C>A
11.
rs1487236816 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- X:119471535
(GRCh38)
X:118605498
(GRCh37)
- Canonical SPDI:
- NC_000023.11:119471534:C:G,NC_000023.11:119471534:C:T
- Gene:
- SLC25A5 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000132/2
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
12.
rs1486907484 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- X:119468520
(GRCh38)
X:118602483
(GRCh37)
- Canonical SPDI:
- NC_000023.11:119468519:C:G,NC_000023.11:119468519:C:T
- Gene:
- SLC25A5 (Varview), SLC25A5-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
- HGVS:
NC_000023.11:g.119468520C>G, NC_000023.11:g.119468520C>T, NC_000023.10:g.118602483C>G, NC_000023.10:g.118602483C>T, NG_013262.1:g.5121C>G, NG_013262.1:g.5121C>T, NM_001152.5:c.5C>G, NM_001152.5:c.5C>T, NM_001152.4:c.5C>G, NM_001152.4:c.5C>T, NR_028443.1:n.601G>C, NR_028443.1:n.601G>A, NP_001143.2:p.Thr2Arg, NP_001143.2:p.Thr2Ile
13.
rs1484291351 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:119469092
(GRCh38)
X:118603055
(GRCh37)
- Canonical SPDI:
- NC_000023.11:119469091:C:T
- Gene:
- SLC25A5 (Varview), SLC25A5-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
14.
rs1483861657 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G,T
[Show Flanks]
- Chromosome:
- X:119468221
(GRCh38)
X:118602184
(GRCh37)
- Canonical SPDI:
- NC_000023.11:119468220:A:C,NC_000023.11:119468220:A:G,NC_000023.11:119468220:A:T
- Gene:
- SLC25A5 (Varview), SLC25A5-AS1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
A=0./0
(SGDP_PRJ)
- HGVS:
NC_000023.11:g.119468221A>C, NC_000023.11:g.119468221A>G, NC_000023.11:g.119468221A>T, NC_000023.10:g.118602184A>C, NC_000023.10:g.118602184A>G, NC_000023.10:g.118602184A>T, NG_013262.1:g.4822A>C, NG_013262.1:g.4822A>G, NG_013262.1:g.4822A>T, NR_028443.1:n.900T>G, NR_028443.1:n.900T>C, NR_028443.1:n.900T>A, NR_134915.1:n.42T>G, NR_134915.1:n.42T>C, NR_134915.1:n.42T>A
15.
rs1483334180 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- X:119468703
(GRCh38)
X:118602666
(GRCh37)
- Canonical SPDI:
- NC_000023.11:119468702:C:G
- Gene:
- SLC25A5 (Varview), SLC25A5-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.00001/1
(GnomAD)
- HGVS:
18.
rs1482467114 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- X:119471074
(GRCh38)
X:118605037
(GRCh37)
- Canonical SPDI:
- NC_000023.11:119471073:T:G
- Gene:
- SLC25A5 (Varview), SLC25A5-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000009/1
(GnomAD)
- HGVS: