Links from Gene
Items: 1 to 20 of 1000
2.
rs1491363719 has merged into rs34044750 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 16:75450190
(GRCh38)
16:75484088
(GRCh37)
- Canonical SPDI:
- NC_000016.10:75450180:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000016.10:75450180:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:75450180:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:75450180:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:75450180:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:75450180:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:75450180:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:75450180:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:75450180:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75450180:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75450180:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75450180:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75450180:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- TMEM170A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.3948/1977
(1000Genomes)
- HGVS:
NC_000016.10:g.75450190_75450198del, NC_000016.10:g.75450193_75450198del, NC_000016.10:g.75450195_75450198del, NC_000016.10:g.75450196_75450198del, NC_000016.10:g.75450197_75450198del, NC_000016.10:g.75450198del, NC_000016.10:g.75450198dup, NC_000016.10:g.75450197_75450198dup, NC_000016.10:g.75450196_75450198dup, NC_000016.10:g.75450194_75450198dup, NC_000016.10:g.75450189_75450198dup, NC_000016.10:g.75450185_75450198dup, NC_000016.10:g.75450181_75450198A[25]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.9:g.75484088_75484096del, NC_000016.9:g.75484091_75484096del, NC_000016.9:g.75484093_75484096del, NC_000016.9:g.75484094_75484096del, NC_000016.9:g.75484095_75484096del, NC_000016.9:g.75484096del, NC_000016.9:g.75484096dup, NC_000016.9:g.75484095_75484096dup, NC_000016.9:g.75484094_75484096dup, NC_000016.9:g.75484092_75484096dup, NC_000016.9:g.75484087_75484096dup, NC_000016.9:g.75484083_75484096dup, NC_000016.9:g.75484079_75484096A[25]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
3.
rs1491338856 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 16:75450180
(GRCh38)
16:75484078
(GRCh37)
- Canonical SPDI:
- NC_000016.10:75450179:CA:
- Gene:
- TMEM170A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00008/1
(
ALFA)
-=0.00017/11
(GnomAD)
- HGVS:
4.
rs1491280408 has merged into rs59205915 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 16:75455370
(GRCh38)
16:75489268
(GRCh37)
- Canonical SPDI:
- NC_000016.10:75455356:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:75455356:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:75455356:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:75455356:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:75455356:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:75455356:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:75455356:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:75455356:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75455356:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75455356:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75455356:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75455356:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75455356:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75455356:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- TMEM170A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.4768/2388
(1000Genomes)
- HGVS:
NC_000016.10:g.75455370_75455373del, NC_000016.10:g.75455371_75455373del, NC_000016.10:g.75455372_75455373del, NC_000016.10:g.75455373del, NC_000016.10:g.75455373dup, NC_000016.10:g.75455372_75455373dup, NC_000016.10:g.75455371_75455373dup, NC_000016.10:g.75455370_75455373dup, NC_000016.10:g.75455369_75455373dup, NC_000016.10:g.75455368_75455373dup, NC_000016.10:g.75455367_75455373dup, NC_000016.10:g.75455366_75455373dup, NC_000016.10:g.75455362_75455373dup, NC_000016.10:g.75455358_75455373dup, NC_000016.9:g.75489268_75489271del, NC_000016.9:g.75489269_75489271del, NC_000016.9:g.75489270_75489271del, NC_000016.9:g.75489271del, NC_000016.9:g.75489271dup, NC_000016.9:g.75489270_75489271dup, NC_000016.9:g.75489269_75489271dup, NC_000016.9:g.75489268_75489271dup, NC_000016.9:g.75489267_75489271dup, NC_000016.9:g.75489266_75489271dup, NC_000016.9:g.75489265_75489271dup, NC_000016.9:g.75489264_75489271dup, NC_000016.9:g.75489260_75489271dup, NC_000016.9:g.75489256_75489271dup
5.
rs1491024180 has merged into rs10680885 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 16:75449343
(GRCh38)
16:75483241
(GRCh37)
- Canonical SPDI:
- NC_000016.10:75449331:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:75449331:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:75449331:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:75449331:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:75449331:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:75449331:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:75449331:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:75449331:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:75449331:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:75449331:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75449331:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- TMEM170A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.175/7
(GENOME_DK)
-=0.3145/1575
(1000Genomes)
- HGVS:
NC_000016.10:g.75449343_75449345del, NC_000016.10:g.75449344_75449345del, NC_000016.10:g.75449345del, NC_000016.10:g.75449345dup, NC_000016.10:g.75449344_75449345dup, NC_000016.10:g.75449343_75449345dup, NC_000016.10:g.75449342_75449345dup, NC_000016.10:g.75449341_75449345dup, NC_000016.10:g.75449340_75449345dup, NC_000016.10:g.75449338_75449345dup, NC_000016.10:g.75449345_75449346insTTTTTTTTTTTTTTTTT, NC_000016.9:g.75483241_75483243del, NC_000016.9:g.75483242_75483243del, NC_000016.9:g.75483243del, NC_000016.9:g.75483243dup, NC_000016.9:g.75483242_75483243dup, NC_000016.9:g.75483241_75483243dup, NC_000016.9:g.75483240_75483243dup, NC_000016.9:g.75483239_75483243dup, NC_000016.9:g.75483238_75483243dup, NC_000016.9:g.75483236_75483243dup, NC_000016.9:g.75483243_75483244insTTTTTTTTTTTTTTTTT
6.
rs1490956055 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:75448931
(GRCh38)
16:75482829
(GRCh37)
- Canonical SPDI:
- NC_000016.10:75448930:C:T
- Gene:
- TMEM170A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
7.
rs1490939897 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:75459973
(GRCh38)
16:75493871
(GRCh37)
- Canonical SPDI:
- NC_000016.10:75459972:G:A
- Gene:
- TMEM170A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
8.
rs1490516981 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:75454737
(GRCh38)
16:75488635
(GRCh37)
- Canonical SPDI:
- NC_000016.10:75454736:T:C
- Gene:
- TMEM170A (Varview)
- Functional Consequence:
- 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:
9.
rs1490394639 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 16:75453070
(GRCh38)
16:75486968
(GRCh37)
- Canonical SPDI:
- NC_000016.10:75453069:G:C
- Gene:
- TMEM170A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490186755 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 16:75455305
(GRCh38)
16:75489203
(GRCh37)
- Canonical SPDI:
- NC_000016.10:75455304:C:A,NC_000016.10:75455304:C:T
- Gene:
- TMEM170A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
T=0.000008/1
(GnomAD)
- HGVS:
11.
rs1490176577 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 16:75460369
(GRCh38)
16:75494267
(GRCh37)
- Canonical SPDI:
- NC_000016.10:75460368:T:G
- Gene:
- TMEM170A (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:
12.
rs1490021045 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 16:75457318
(GRCh38)
16:75491216
(GRCh37)
- Canonical SPDI:
- NC_000016.10:75457317:G:C
- Gene:
- TMEM170A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
13.
rs1489697330 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 16:75466298
(GRCh38)
16:75500196
(GRCh37)
- Canonical SPDI:
- NC_000016.10:75466297:T:A
- Gene:
- TMEM170A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.00012/2
(TOMMO)
- HGVS:
14.
rs1489490435 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 16:75451733
(GRCh38)
16:75485631
(GRCh37)
- Canonical SPDI:
- NC_000016.10:75451732:C:A,NC_000016.10:75451732:C:G,NC_000016.10:75451732:C:T
- Gene:
- TMEM170A (Varview)
- Functional Consequence:
- coding_sequence_variant,intron_variant,missense_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
T=0.000004/1
(TOPMED)
- HGVS:
NC_000016.10:g.75451733C>A, NC_000016.10:g.75451733C>G, NC_000016.10:g.75451733C>T, NC_000016.9:g.75485631C>A, NC_000016.9:g.75485631C>G, NC_000016.9:g.75485631C>T, XM_011522869.3:c.213G>T, XM_011522869.3:c.213G>C, XM_011522869.3:c.213G>A, XM_011522869.2:c.213G>T, XM_011522869.2:c.213G>C, XM_011522869.2:c.213G>A, XM_011522869.1:c.213G>T, XM_011522869.1:c.213G>C, XM_011522869.1:c.213G>A, NM_145254.3:c.240G>T, NM_145254.3:c.240G>C, NM_145254.3:c.240G>A, NM_145254.2:c.240G>T, NM_145254.2:c.240G>C, NM_145254.2:c.240G>A, NM_145254.1:c.240G>T, NM_145254.1:c.240G>C, NM_145254.1:c.240G>A, XM_017022939.2:c.156G>T, XM_017022939.2:c.156G>C, XM_017022939.2:c.156G>A, XM_017022939.1:c.156G>T, XM_017022939.1:c.156G>C, XM_017022939.1:c.156G>A, NM_001304997.2:c.126G>T, NM_001304997.2:c.126G>C, NM_001304997.2:c.126G>A, NM_001304997.1:c.126G>T, NM_001304997.1:c.126G>C, NM_001304997.1:c.126G>A, XM_017022941.2:c.105G>T, XM_017022941.2:c.105G>C, XM_017022941.2:c.105G>A, XM_017022941.1:c.105G>T, XM_017022941.1:c.105G>C, XM_017022941.1:c.105G>A, XP_011521171.1:p.Arg71Ser, XP_011521171.1:p.Arg71Ser, NP_660297.1:p.Arg80Ser, NP_660297.1:p.Arg80Ser, XP_016878428.1:p.Arg52Ser, XP_016878428.1:p.Arg52Ser, NP_001291926.1:p.Arg42Ser, NP_001291926.1:p.Arg42Ser, XP_016878430.1:p.Arg35Ser, XP_016878430.1:p.Arg35Ser
16.
rs1489414049 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:75465691
(GRCh38)
16:75499589
(GRCh37)
- Canonical SPDI:
- NC_000016.10:75465690:T:C
- Gene:
- TMEM170A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
17.
rs1489209823 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 16:75446183
(GRCh38)
16:75480081
(GRCh37)
- Canonical SPDI:
- NC_000016.10:75446181:AGA:A
- Gene:
- TMEM170A (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000016.10:g.75446183_75446184del, NC_000016.9:g.75480081_75480082del, XM_011522869.3:c.*1375_*1376del, XM_011522869.2:c.*1375_*1376del, XM_011522869.1:c.*1375_*1376del, NM_145254.3:c.*1375_*1376del, NM_145254.2:c.*1375_*1376del, XM_017022939.2:c.*1375_*1376del, XM_017022939.1:c.*1375_*1376del, XM_017022942.2:c.*1375_*1376del, XM_017022942.1:c.*1375_*1376del, XM_017022940.2:c.*1375_*1376del, XM_017022940.1:c.*1375_*1376del, NM_001304997.2:c.*1375_*1376del, NM_001304997.1:c.*1375_*1376del, NM_001304996.2:c.*1375_*1376del, NM_001304996.1:c.*1375_*1376del, XM_017022943.2:c.*1375_*1376del, XM_017022943.1:c.*1375_*1376del, XM_017022941.2:c.*1375_*1376del, XM_017022941.1:c.*1375_*1376del, NM_001304998.1:c.*1375_*1376del
18.
rs1489133285 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 16:75463390
(GRCh38)
16:75497288
(GRCh37)
- Canonical SPDI:
- NC_000016.10:75463389:A:C
- Gene:
- TMEM170A (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
19.
rs1489022615 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 16:75464002
(GRCh38)
16:75497900
(GRCh37)
- Canonical SPDI:
- NC_000016.10:75464001:G:A,NC_000016.10:75464001:G:C
- Gene:
- TMEM170A (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000034/9
(TOPMED)
C=0.000035/1
(TOMMO)
A=0.000057/8
(GnomAD)
- HGVS:
20.
rs1488928799 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA
[Show Flanks]
- Chromosome:
- 16:75455355
(GRCh38)
16:75489254
(GRCh37)
- Canonical SPDI:
- NC_000016.10:75455355::A,NC_000016.10:75455355::AA,NC_000016.10:75455355::AAA,NC_000016.10:75455355::AAAA,NC_000016.10:75455355::AAAAA,NC_000016.10:75455355::AAAAAA,NC_000016.10:75455355::AAAAAAA
- Gene:
- TMEM170A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
AAAAAAA=0.0001/1
(GnomAD)
AAAA=0.01297/191
(TOMMO)
- HGVS:
NC_000016.10:g.75455355_75455356insA, NC_000016.10:g.75455355_75455356insAA, NC_000016.10:g.75455355_75455356insAAA, NC_000016.10:g.75455355_75455356insAAAA, NC_000016.10:g.75455355_75455356insAAAAA, NC_000016.10:g.75455355_75455356insAAAAAA, NC_000016.10:g.75455355_75455356insAAAAAAA, NC_000016.9:g.75489253_75489254insA, NC_000016.9:g.75489253_75489254insAA, NC_000016.9:g.75489253_75489254insAAA, NC_000016.9:g.75489253_75489254insAAAA, NC_000016.9:g.75489253_75489254insAAAAA, NC_000016.9:g.75489253_75489254insAAAAAA, NC_000016.9:g.75489253_75489254insAAAAAAA