Links from Gene
Items: 1 to 20 of 3762
2.
rs1491371188 has merged into rs34381198 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 19:6669751
(GRCh38)
19:6669762
(GRCh37)
- Canonical SPDI:
- NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACA,NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACA,NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:6669737:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- TNFSF14 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACA=0./0
(
ALFA)
-=0.1977/762
(ALSPAC)
AC=0.4351/2179
(1000Genomes)
- HGVS:
NC_000019.10:g.6669739CA[6], NC_000019.10:g.6669739CA[7], NC_000019.10:g.6669739CA[8], NC_000019.10:g.6669739CA[9], NC_000019.10:g.6669739CA[10], NC_000019.10:g.6669739CA[11], NC_000019.10:g.6669739CA[12], NC_000019.10:g.6669739CA[13], NC_000019.10:g.6669739CA[14], NC_000019.10:g.6669739CA[15], NC_000019.10:g.6669739CA[16], NC_000019.10:g.6669739CA[17], NC_000019.10:g.6669739CA[19], NC_000019.10:g.6669739CA[20], NC_000019.10:g.6669739CA[21], NC_000019.10:g.6669739CA[22], NC_000019.10:g.6669739CA[23], NC_000019.10:g.6669739CA[24], NC_000019.10:g.6669739CA[25], NC_000019.10:g.6669739CA[26], NC_000019.10:g.6669739CA[27], NC_000019.10:g.6669739CA[31], NC_000019.9:g.6669750CA[6], NC_000019.9:g.6669750CA[7], NC_000019.9:g.6669750CA[8], NC_000019.9:g.6669750CA[9], NC_000019.9:g.6669750CA[10], NC_000019.9:g.6669750CA[11], NC_000019.9:g.6669750CA[12], NC_000019.9:g.6669750CA[13], NC_000019.9:g.6669750CA[14], NC_000019.9:g.6669750CA[15], NC_000019.9:g.6669750CA[16], NC_000019.9:g.6669750CA[17], NC_000019.9:g.6669750CA[19], NC_000019.9:g.6669750CA[20], NC_000019.9:g.6669750CA[21], NC_000019.9:g.6669750CA[22], NC_000019.9:g.6669750CA[23], NC_000019.9:g.6669750CA[24], NC_000019.9:g.6669750CA[25], NC_000019.9:g.6669750CA[26], NC_000019.9:g.6669750CA[27], NC_000019.9:g.6669750CA[31]
3.
rs1491323594 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 19:6669775
(GRCh38)
19:6669786
(GRCh37)
- Canonical SPDI:
- NC_000019.10:6669773:AGA:A
- Gene:
- TNFSF14 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.00015/20
(GnomAD)
-=0.001667/1
(NorthernSweden)
-=0.084682/314
(TWINSUK)
-=0.11754/453
(ALSPAC)
- HGVS:
5.
rs1491013588 has merged into rs5826941 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:6666407
(GRCh38)
19:6666418
(GRCh37)
- Canonical SPDI:
- NC_000019.10:6666396:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:6666396:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:6666396:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:6666396:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:6666396:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:6666396:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:6666396:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:6666396:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:6666396:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:6666396:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- TNFSF14 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.403/2018
(1000Genomes)
- HGVS:
NC_000019.10:g.6666407_6666414del, NC_000019.10:g.6666411_6666414del, NC_000019.10:g.6666412_6666414del, NC_000019.10:g.6666413_6666414del, NC_000019.10:g.6666414del, NC_000019.10:g.6666414dup, NC_000019.10:g.6666413_6666414dup, NC_000019.10:g.6666412_6666414dup, NC_000019.10:g.6666411_6666414dup, NC_000019.10:g.6666409_6666414dup, NC_000019.9:g.6666418_6666425del, NC_000019.9:g.6666422_6666425del, NC_000019.9:g.6666423_6666425del, NC_000019.9:g.6666424_6666425del, NC_000019.9:g.6666425del, NC_000019.9:g.6666425dup, NC_000019.9:g.6666424_6666425dup, NC_000019.9:g.6666423_6666425dup, NC_000019.9:g.6666422_6666425dup, NC_000019.9:g.6666420_6666425dup
6.
rs1490244502 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:6662663
(GRCh38)
19:6662674
(GRCh37)
- Canonical SPDI:
- NC_000019.10:6662662:C:T
- Gene:
- TNFSF14 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
7.
rs1490195119 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:6661685
(GRCh38)
19:6661696
(GRCh37)
- Canonical SPDI:
- NC_000019.10:6661684:G:A
- Gene:
- TNFSF14 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
- HGVS:
9.
rs1490044845 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GCTCTCAGCCTGTGCCCTGTCCTAC>-
[Show Flanks]
- Chromosome:
- 19:6669715
(GRCh38)
19:6669726
(GRCh37)
- Canonical SPDI:
- NC_000019.10:6669714:GCTCTCAGCCTGTGCCCTGTCCTAC:
- Gene:
- TNFSF14 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000071/1
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000022/3
(GnomAD)
- HGVS:
10.
rs1489920936 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 19:6665138
(GRCh38)
19:6665149
(GRCh37)
- Canonical SPDI:
- NC_000019.10:6665137:G:A,NC_000019.10:6665137:G:T
- Gene:
- TNFSF14 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000043/1
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000019.10:g.6665138G>A, NC_000019.10:g.6665138G>T, NC_000019.9:g.6665149G>A, NC_000019.9:g.6665149G>T, NM_003807.5:c.511C>T, NM_003807.5:c.511C>A, NM_003807.4:c.511C>T, NM_003807.4:c.511C>A, NM_003807.3:c.511C>T, NM_003807.3:c.511C>A, NM_172014.3:c.403C>T, NM_172014.3:c.403C>A, NM_172014.2:c.403C>T, NM_172014.2:c.403C>A, NM_001376887.1:c.511C>T, NM_001376887.1:c.511C>A, NP_003798.2:p.Pro171Ser, NP_003798.2:p.Pro171Thr, NP_742011.2:p.Pro135Ser, NP_742011.2:p.Pro135Thr, NP_001363816.1:p.Pro171Ser, NP_001363816.1:p.Pro171Thr
11.
rs1489715827 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:6662157
(GRCh38)
19:6662168
(GRCh37)
- Canonical SPDI:
- NC_000019.10:6662156:G:A
- Gene:
- TNFSF14 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1489666606 has merged into rs3215060 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-,GG
[Show Flanks]
- Chromosome:
- 19:6667291
(GRCh38)
19:6667302
(GRCh37)
- Canonical SPDI:
- NC_000019.10:6667290:GGGGG:GGGG,NC_000019.10:6667290:GGGGG:GGGGGG
- Gene:
- TNFSF14 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
G=0.000179/3
(TOMMO)
- HGVS:
13.
rs1489646154 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:6665130
(GRCh38)
19:6665141
(GRCh37)
- Canonical SPDI:
- NC_000019.10:6665129:G:A
- Gene:
- TNFSF14 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
14.
rs1489624000 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:6670141
(GRCh38)
19:6670152
(GRCh37)
- Canonical SPDI:
- NC_000019.10:6670140:A:G
- Gene:
- TNFSF14 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
A=0.5/1
(SGDP_PRJ)
- HGVS:
15.
rs1489540390 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:6659217
(GRCh38)
19:6659228
(GRCh37)
- Canonical SPDI:
- NC_000019.10:6659216:T:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000094/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1489317840 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:6662689
(GRCh38)
19:6662700
(GRCh37)
- Canonical SPDI:
- NC_000019.10:6662688:A:G
- Gene:
- TNFSF14 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
17.
rs1489087526 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:6660247
(GRCh38)
19:6660258
(GRCh37)
- Canonical SPDI:
- NC_000019.10:6660246:T:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
18.
rs1488851740 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 19:6659999
(GRCh38)
19:6660010
(GRCh37)
- Canonical SPDI:
- NC_000019.10:6659998:T:
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
19.
rs1488751439 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:6661137
(GRCh38)
19:6661148
(GRCh37)
- Canonical SPDI:
- NC_000019.10:6661136:T:C
- Gene:
- TNFSF14 (Varview)
- Functional Consequence:
- downstream_transcript_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:
20.
rs1488742017 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:6669617
(GRCh38)
19:6669628
(GRCh37)
- Canonical SPDI:
- NC_000019.10:6669616:A:G
- Gene:
- TNFSF14 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000023/6
(TOPMED)
G=0.000389/7
(TOMMO)
G=0.000546/1
(Korea1K)
G=0.001027/3
(KOREAN)
- HGVS: