Links from Gene
Items: 1 to 20 of 2839
1.
rs1491588706 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CC
[Show Flanks]
- Chromosome:
- 20:1183287
(GRCh38)
20:1163932
(GRCh37)
- Canonical SPDI:
- NC_000020.11:1183287:C:CCC
- Gene:
- TMEM74B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CCC=0./0
(
ALFA)
CC=0.000004/1
(TOPMED)
- HGVS:
2.
rs1491501071 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 20:1183315
(GRCh38)
20:1163960
(GRCh37)
- Canonical SPDI:
- NC_000020.11:1183315::G
- Gene:
- TMEM74B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.000934/121
(GnomAD)
G=0.002654/44
(TOMMO)
- HGVS:
3.
rs1491166560 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C,CACACG
[Show Flanks]
- Chromosome:
- 20:1184656
(GRCh38)
20:1165301
(GRCh37)
- Canonical SPDI:
- NC_000020.11:1184656::C,NC_000020.11:1184656::CACACG
- Gene:
- TMEM74B (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CACACG=0./0
(
ALFA)
C=0.000008/1
(GnomAD)
- HGVS:
NC_000020.11:g.1184656_1184657insC, NC_000020.11:g.1184656_1184657insCACACG, NC_000020.10:g.1165300_1165301insC, NC_000020.10:g.1165300_1165301insCACACG, NM_018354.3:c.-856_-855insG, NM_018354.3:c.-856_-855insCGTGTG, NM_001304748.2:c.-503_-502insG, NM_001304748.2:c.-503_-502insCGTGTG, NM_001304748.1:c.-503_-502insG, NM_001304748.1:c.-503_-502insCGTGTG, XM_017027925.2:c.-561_-560insG, XM_017027925.2:c.-561_-560insCGTGTG, XM_017027925.1:c.-561_-560insG, XM_017027925.1:c.-561_-560insCGTGTG
4.
rs1491138270 has merged into rs1401791209 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A
[Show Flanks]
- Chromosome:
- 20:1184657
(GRCh38)
20:1165301
(GRCh37)
- Canonical SPDI:
- NC_000020.11:1184655:AAA:A,NC_000020.11:1184655:AAA:AA
- Gene:
- TMEM74B (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000023/3
(GnomAD)
- HGVS:
NC_000020.11:g.1184657_1184658del, NC_000020.11:g.1184658del, NC_000020.10:g.1165301_1165302del, NC_000020.10:g.1165302del, NM_018354.3:c.-856_-855del, NM_018354.3:c.-855del, NM_001304748.2:c.-503_-502del, NM_001304748.2:c.-502del, NM_001304748.1:c.-503_-502del, NM_001304748.1:c.-502del, XM_017027925.2:c.-561_-560del, XM_017027925.2:c.-560del, XM_017027925.1:c.-561_-560del, XM_017027925.1:c.-560del
5.
rs1491120591 has merged into rs769696559 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-,CTCT,CTCTCT
[Show Flanks]
- Chromosome:
- 20:1183290
(GRCh38)
20:1163934
(GRCh37)
- Canonical SPDI:
- NC_000020.11:1183286:TCTCT:TCT,NC_000020.11:1183286:TCTCT:TCTCTCT,NC_000020.11:1183286:TCTCT:TCTCTCTCT
- Gene:
- TMEM74B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTCTCTCT=0./0
(
ALFA)
TC=0.00246/11
(Estonian)
TC=0.00357/60
(TOMMO)
TC=0.0071/13
(Korea1K)
- HGVS:
6.
rs1491070256 has merged into rs142394583 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 20:1183302
(GRCh38)
20:1163946
(GRCh37)
- Canonical SPDI:
- NC_000020.11:1183290:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGT,NC_000020.11:1183290:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000020.11:1183290:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000020.11:1183290:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000020.11:1183290:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000020.11:1183290:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000020.11:1183290:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:1183290:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:1183290:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:1183290:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:1183290:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:1183290:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:1183290:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:1183290:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:1183290:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:1183290:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:1183290:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- TMEM74B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGT=0./0
(
ALFA)
-=0.002554/676
(TOPMED)
TG=0.160743/805
(1000Genomes)
- HGVS:
NC_000020.11:g.1183292GT[5], NC_000020.11:g.1183292GT[6], NC_000020.11:g.1183292GT[7], NC_000020.11:g.1183292GT[8], NC_000020.11:g.1183292GT[9], NC_000020.11:g.1183292GT[10], NC_000020.11:g.1183292GT[11], NC_000020.11:g.1183292GT[13], NC_000020.11:g.1183292GT[14], NC_000020.11:g.1183292GT[15], NC_000020.11:g.1183292GT[16], NC_000020.11:g.1183292GT[17], NC_000020.11:g.1183292GT[18], NC_000020.11:g.1183292GT[19], NC_000020.11:g.1183292GT[20], NC_000020.11:g.1183292GT[21], NC_000020.11:g.1183291_1183315TG[14]TTTGTGTGTGTGTGTGTGTGTGTGTGTGT[1], NC_000020.10:g.1163936GT[5], NC_000020.10:g.1163936GT[6], NC_000020.10:g.1163936GT[7], NC_000020.10:g.1163936GT[8], NC_000020.10:g.1163936GT[9], NC_000020.10:g.1163936GT[10], NC_000020.10:g.1163936GT[11], NC_000020.10:g.1163936GT[13], NC_000020.10:g.1163936GT[14], NC_000020.10:g.1163936GT[15], NC_000020.10:g.1163936GT[16], NC_000020.10:g.1163936GT[17], NC_000020.10:g.1163936GT[18], NC_000020.10:g.1163936GT[19], NC_000020.10:g.1163936GT[20], NC_000020.10:g.1163936GT[21], NC_000020.10:g.1163935_1163959TG[14]TTTGTGTGTGTGTGTGTGTGTGTGTGTGT[1]
7.
rs1490914115 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:1182467
(GRCh38)
20:1163111
(GRCh37)
- Canonical SPDI:
- NC_000020.11:1182466:T:C
- Gene:
- TMEM74B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
8.
rs1490566612 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:1189654
(GRCh38)
20:1170298
(GRCh37)
- Canonical SPDI:
- NC_000020.11:1189653:T:C
- Gene:
- TMEM74B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
9.
rs1490494368 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 20:1188640
(GRCh38)
20:1169284
(GRCh37)
- Canonical SPDI:
- NC_000020.11:1188639:T:A
- Gene:
- TMEM74B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000008/1
(GnomAD)
- HGVS:
10.
rs1490122018 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTGTGT>-
[Show Flanks]
- Chromosome:
- 20:1183316
(GRCh38)
20:1163960
(GRCh37)
- Canonical SPDI:
- NC_000020.11:1183310:TGTGTTTGTGT:TGTGT
- Gene:
- TMEM74B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGT=0.000185/3
(
ALFA)
-=0.000045/6
(GnomAD)
-=0.000142/2
(TOMMO)
- HGVS:
11.
rs1489958441 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 20:1183552
(GRCh38)
20:1164196
(GRCh37)
- Canonical SPDI:
- NC_000020.11:1183551:G:C
- Gene:
- TMEM74B (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)
C=0.000684/2
(KOREAN)
- HGVS:
12.
rs1489932791 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 20:1183185
(GRCh38)
20:1163829
(GRCh37)
- Canonical SPDI:
- NC_000020.11:1183184:T:A
- Gene:
- TMEM74B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
14.
rs1489604517 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 20:1189007
(GRCh38)
20:1169651
(GRCh37)
- Canonical SPDI:
- NC_000020.11:1189006:A:C,NC_000020.11:1189006:A:G
- Gene:
- TMEM74B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
15.
rs1489266893 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GTT>-
[Show Flanks]
- Chromosome:
- 20:1188282
(GRCh38)
20:1168926
(GRCh37)
- Canonical SPDI:
- NC_000020.11:1188281:GTT:
- Gene:
- TMEM74B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
16.
rs1489124182 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:1181264
(GRCh38)
20:1161908
(GRCh37)
- Canonical SPDI:
- NC_000020.11:1181263:C:T
- Gene:
- TMEM74B (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
NC_000020.11:g.1181264C>T, NC_000020.10:g.1161908C>T, XM_011529281.3:c.526G>A, XM_011529281.2:c.526G>A, XM_011529281.1:c.526G>A, NM_018354.3:c.355G>A, NM_018354.2:c.355G>A, NM_018354.1:c.355G>A, XM_017027924.2:c.355G>A, XM_017027924.1:c.355G>A, NM_001304748.2:c.355G>A, NM_001304748.1:c.355G>A, XM_017027925.2:c.283G>A, XM_017027925.1:c.283G>A, NM_001304749.2:c.283G>A, NM_001304749.1:c.283G>A, XM_017027923.2:c.451G>A, XM_017027923.1:c.451G>A, NM_001387330.1:c.355G>A, NM_001387331.1:c.355G>A, NM_001387334.1:c.355G>A, NM_001387333.1:c.355G>A, NM_001387332.1:c.355G>A, XM_047440257.1:c.355G>A, NM_001387329.1:c.283G>A, XP_011527583.1:p.Val176Met, NP_060824.1:p.Val119Met, XP_016883413.1:p.Val119Met, NP_001291677.1:p.Val119Met, XP_016883414.1:p.Val95Met, NP_001291678.1:p.Val95Met, XP_016883412.1:p.Val151Met, NP_001374259.1:p.Val119Met, NP_001374260.1:p.Val119Met, NP_001374263.1:p.Val119Met, NP_001374262.1:p.Val119Met, NP_001374261.1:p.Val119Met, XP_047296213.1:p.Val119Met, NP_001374258.1:p.Val95Met
17.
rs1488961896 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 20:1180444
(GRCh38)
20:1161088
(GRCh37)
- Canonical SPDI:
- NC_000020.11:1180443:A:C,NC_000020.11:1180443:A:G
- Gene:
- TMEM74B (Varview), LOC124904855 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
C=0.007096/13
(Korea1K)
- HGVS:
18.
rs1488288784 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GGTT
[Show Flanks]
- Chromosome:
- 20:1189430
(GRCh38)
20:1170075
(GRCh37)
- Canonical SPDI:
- NC_000020.11:1189430:GTTGGTT:GTTGGTTGGTT
- Gene:
- TMEM74B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
GTTGGTTGGTT=0./0
(
ALFA)
GTTG=0.000004/1
(TOPMED)
- HGVS:
19.
rs1488048969 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:1190089
(GRCh38)
20:1170733
(GRCh37)
- Canonical SPDI:
- NC_000020.11:1190088:T:C
- Gene:
- TMEM74B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.005985/71
(
ALFA)
C=0.001711/5
(KOREAN)
C=0.006166/637
(GnomAD)
T=0.5/1
(SGDP_PRJ)
- HGVS:
20.
rs1488038975 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 20:1184138
(GRCh38)
20:1164782
(GRCh37)
- Canonical SPDI:
- NC_000020.11:1184137:G:C
- Gene:
- TMEM74B (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS: