Links from Gene
Items: 1 to 20 of 1024
1.
rs1491529227 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TTTTTTTT
[Show Flanks]
- Chromosome:
- 1:171341415
(GRCh38)
1:171310555
(GRCh37)
- Canonical SPDI:
- NC_000001.11:171341415::TTTTTTTT
- Gene:
- FMO4 (Varview), TOP1P1 (Varview)
- Functional Consequence:
- frameshift_variant,500B_downstream_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000001.11:g.171341415_171341416insTTTTTTTT, NC_000001.10:g.171310554_171310555insTTTTTTTT, XM_005245045.4:c.1103_1104insTTTTTTTT, XM_005245045.3:c.1103_1104insTTTTTTTT, XM_005245045.2:c.1103_1104insTTTTTTTT, XM_005245045.1:c.1103_1104insTTTTTTTT, XM_005245046.4:c.1064_1065insTTTTTTTT, XM_005245046.3:c.1064_1065insTTTTTTTT, XM_005245046.2:c.1064_1065insTTTTTTTT, XM_005245046.1:c.1064_1065insTTTTTTTT, XM_006711243.4:c.722_723insTTTTTTTT, XM_006711243.3:c.722_723insTTTTTTTT, XM_006711243.2:c.722_723insTTTTTTTT, XM_006711243.1:c.722_723insTTTTTTTT, XM_005245048.4:c.557_558insTTTTTTTT, XM_005245048.3:c.557_558insTTTTTTTT, XM_005245048.2:c.557_558insTTTTTTTT, XM_005245048.1:c.557_558insTTTTTTTT, NM_002022.3:c.1253_1254insTTTTTTTT, NM_002022.2:c.1253_1254insTTTTTTTT, NM_002022.1:c.1253_1254insTTTTTTTT, XM_011509348.3:c.824_825insTTTTTTTT, XM_011509348.2:c.824_825insTTTTTTTT, XM_011509348.1:c.824_825insTTTTTTTT, XP_005245102.1:p.Val369fs, XP_005245103.1:p.Val356fs, XP_006711306.1:p.Val242fs, XP_005245105.1:p.Val187fs, NP_002013.1:p.Val419fs, XP_011507650.1:p.Val276fs
2.
rs1491484384 has merged into rs71103399 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 1:171336986
(GRCh38)
1:171306125
(GRCh37)
- Canonical SPDI:
- NC_000001.11:171336985:CG:
- Gene:
- FMO4 (Varview), TOP1P1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000065/9
(GnomAD)
- HGVS:
3.
rs1491305093 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AA
[Show Flanks]
- Chromosome:
- 1:171336962
(GRCh38)
1:171306102
(GRCh37)
- Canonical SPDI:
- NC_000001.11:171336962:A:AAA
- Gene:
- FMO4 (Varview), TOP1P1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AAA=0./0
(
ALFA)
AA=0.00004/2
(GnomAD)
- HGVS:
4.
rs1491113615 has merged into rs35512975 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC
[Show Flanks]
- Chromosome:
- 1:171336977
(GRCh38)
1:171306116
(GRCh37)
- Canonical SPDI:
- NC_000001.11:171336961:CACACACACACACACACACACACAC:CACACACACACACAC,NC_000001.11:171336961:CACACACACACACACACACACACAC:CACACACACACACACAC,NC_000001.11:171336961:CACACACACACACACACACACACAC:CACACACACACACACACAC,NC_000001.11:171336961:CACACACACACACACACACACACAC:CACACACACACACACACACAC,NC_000001.11:171336961:CACACACACACACACACACACACAC:CACACACACACACACACACACAC,NC_000001.11:171336961:CACACACACACACACACACACACAC:CACACACACACACACACACACACACAC,NC_000001.11:171336961:CACACACACACACACACACACACAC:CACACACACACACACACACACACACACAC,NC_000001.11:171336961:CACACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC,NC_000001.11:171336961:CACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC,NC_000001.11:171336961:CACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC,NC_000001.11:171336961:CACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC,NC_000001.11:171336961:CACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACAC,NC_000001.11:171336961:CACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACAC
- Gene:
- FMO4 (Varview), TOP1P1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACACACACAC=0./0
(
ALFA)
- HGVS:
NC_000001.11:g.171336963AC[7], NC_000001.11:g.171336963AC[8], NC_000001.11:g.171336963AC[9], NC_000001.11:g.171336963AC[10], NC_000001.11:g.171336963AC[11], NC_000001.11:g.171336963AC[13], NC_000001.11:g.171336963AC[14], NC_000001.11:g.171336963AC[15], NC_000001.11:g.171336963AC[16], NC_000001.11:g.171336963AC[17], NC_000001.11:g.171336963AC[18], NC_000001.11:g.171336963AC[19], NC_000001.11:g.171336963AC[20], NC_000001.10:g.171306102AC[7], NC_000001.10:g.171306102AC[8], NC_000001.10:g.171306102AC[9], NC_000001.10:g.171306102AC[10], NC_000001.10:g.171306102AC[11], NC_000001.10:g.171306102AC[13], NC_000001.10:g.171306102AC[14], NC_000001.10:g.171306102AC[15], NC_000001.10:g.171306102AC[16], NC_000001.10:g.171306102AC[17], NC_000001.10:g.171306102AC[18], NC_000001.10:g.171306102AC[19], NC_000001.10:g.171306102AC[20]
5.
rs1490152063 has merged into rs1221878193 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,TTT,TTTTT
[Show Flanks]
- Chromosome:
- 1:171340929
(GRCh38)
1:171310068
(GRCh37)
- Canonical SPDI:
- NC_000001.11:171340926:TTTTTT:TT,NC_000001.11:171340926:TTTTTT:TTTTT,NC_000001.11:171340926:TTTTTT:TTTTTTT
- Gene:
- FMO4 (Varview), TOP1P1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTT=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
6.
rs1488909931 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:171338721
(GRCh38)
1:171307860
(GRCh37)
- Canonical SPDI:
- NC_000001.11:171338720:C:A
- Gene:
- FMO4 (Varview), TOP1P1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
7.
rs1488768590 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:171339673
(GRCh38)
1:171308812
(GRCh37)
- Canonical SPDI:
- NC_000001.11:171339672:G:C
- Gene:
- FMO4 (Varview), TOP1P1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
8.
rs1487980598 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:171341600
(GRCh38)
1:171310739
(GRCh37)
- Canonical SPDI:
- NC_000001.11:171341599:G:C
- Gene:
- FMO4 (Varview), TOP1P1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,missense_variant
- HGVS:
NC_000001.11:g.171341600G>C, NC_000001.10:g.171310739G>C, XM_005245045.4:c.1288G>C, XM_005245045.3:c.1288G>C, XM_005245045.2:c.1288G>C, XM_005245045.1:c.1288G>C, XM_005245046.4:c.1249G>C, XM_005245046.3:c.1249G>C, XM_005245046.2:c.1249G>C, XM_005245046.1:c.1249G>C, XM_006711243.4:c.907G>C, XM_006711243.3:c.907G>C, XM_006711243.2:c.907G>C, XM_006711243.1:c.907G>C, XM_005245048.4:c.742G>C, XM_005245048.3:c.742G>C, XM_005245048.2:c.742G>C, XM_005245048.1:c.742G>C, NM_002022.3:c.1438G>C, NM_002022.2:c.1438G>C, NM_002022.1:c.1438G>C, XM_011509348.3:c.1009G>C, XM_011509348.2:c.1009G>C, XM_011509348.1:c.1009G>C, XP_005245102.1:p.Asp430His, XP_005245103.1:p.Asp417His, XP_006711306.1:p.Asp303His, XP_005245105.1:p.Asp248His, NP_002013.1:p.Asp480His, XP_011507650.1:p.Asp337His
9.
rs1486841518 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:171339913
(GRCh38)
1:171309052
(GRCh37)
- Canonical SPDI:
- NC_000001.11:171339912:G:C
- Gene:
- FMO4 (Varview), TOP1P1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
10.
rs1485651091 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:171337721
(GRCh38)
1:171306860
(GRCh37)
- Canonical SPDI:
- NC_000001.11:171337720:A:G
- Gene:
- FMO4 (Varview), TOP1P1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
11.
rs1485502545 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:171337461
(GRCh38)
1:171306600
(GRCh37)
- Canonical SPDI:
- NC_000001.11:171337460:G:A
- Gene:
- FMO4 (Varview), TOP1P1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000111/1
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
- HGVS:
12.
rs1485019236 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- 1:171337139
(GRCh38)
1:171306278
(GRCh37)
- Canonical SPDI:
- NC_000001.11:171337134:TCTCTC:TCTC
- Gene:
- FMO4 (Varview), TOP1P1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTC=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
14.
rs1483928943 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 1:171341744
(GRCh38)
1:171310883
(GRCh37)
- Canonical SPDI:
- NC_000001.11:171341743:C:G,NC_000001.11:171341743:C:T
- Gene:
- FMO4 (Varview), TOP1P1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,missense_variant,synonymous_variant,500B_downstream_variant,coding_sequence_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000001.11:g.171341744C>G, NC_000001.11:g.171341744C>T, NC_000001.10:g.171310883C>G, NC_000001.10:g.171310883C>T, XM_005245045.4:c.1432C>G, XM_005245045.4:c.1432C>T, XM_005245045.3:c.1432C>G, XM_005245045.3:c.1432C>T, XM_005245045.2:c.1432C>G, XM_005245045.2:c.1432C>T, XM_005245045.1:c.1432C>G, XM_005245045.1:c.1432C>T, XM_005245046.4:c.1393C>G, XM_005245046.4:c.1393C>T, XM_005245046.3:c.1393C>G, XM_005245046.3:c.1393C>T, XM_005245046.2:c.1393C>G, XM_005245046.2:c.1393C>T, XM_005245046.1:c.1393C>G, XM_005245046.1:c.1393C>T, XM_006711243.4:c.1051C>G, XM_006711243.4:c.1051C>T, XM_006711243.3:c.1051C>G, XM_006711243.3:c.1051C>T, XM_006711243.2:c.1051C>G, XM_006711243.2:c.1051C>T, XM_006711243.1:c.1051C>G, XM_006711243.1:c.1051C>T, XM_005245048.4:c.886C>G, XM_005245048.4:c.886C>T, XM_005245048.3:c.886C>G, XM_005245048.3:c.886C>T, XM_005245048.2:c.886C>G, XM_005245048.2:c.886C>T, XM_005245048.1:c.886C>G, XM_005245048.1:c.886C>T, NM_002022.3:c.1582C>G, NM_002022.3:c.1582C>T, NM_002022.2:c.1582C>G, NM_002022.2:c.1582C>T, NM_002022.1:c.1582C>G, NM_002022.1:c.1582C>T, XM_011509348.3:c.1153C>G, XM_011509348.3:c.1153C>T, XM_011509348.2:c.1153C>G, XM_011509348.2:c.1153C>T, XM_011509348.1:c.1153C>G, XM_011509348.1:c.1153C>T, XP_005245102.1:p.Leu478Val, XP_005245103.1:p.Leu465Val, XP_006711306.1:p.Leu351Val, XP_005245105.1:p.Leu296Val, NP_002013.1:p.Leu528Val, XP_011507650.1:p.Leu385Val
15.
rs1483569768 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 1:171339012
(GRCh38)
1:171308151
(GRCh37)
- Canonical SPDI:
- NC_000001.11:171339011:A:C,NC_000001.11:171339011:A:G
- Gene:
- FMO4 (Varview), TOP1P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1481768549 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:171340911
(GRCh38)
1:171310050
(GRCh37)
- Canonical SPDI:
- NC_000001.11:171340910:G:T
- Gene:
- FMO4 (Varview), TOP1P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
T=0.000212/4
(TOMMO)
- HGVS:
17.
rs1481716968 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:171339731
(GRCh38)
1:171308870
(GRCh37)
- Canonical SPDI:
- NC_000001.11:171339730:A:C
- Gene:
- FMO4 (Varview), TOP1P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
18.
rs1481519301 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:171337080
(GRCh38)
1:171306219
(GRCh37)
- Canonical SPDI:
- NC_000001.11:171337079:C:T
- Gene:
- FMO4 (Varview), TOP1P1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
19.
rs1480870078 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 1:171339894
(GRCh38)
1:171309033
(GRCh37)
- Canonical SPDI:
- NC_000001.11:171339893:T:C,NC_000001.11:171339893:T:G
- Gene:
- FMO4 (Varview), TOP1P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
G=0.00004/1
(TOMMO)
- HGVS:
NC_000001.11:g.171339894T>C, NC_000001.11:g.171339894T>G, NC_000001.10:g.171309033T>C, NC_000001.10:g.171309033T>G, XM_011509347.3:c.*509T>C, XM_011509347.3:c.*509T>G, XM_011509347.2:c.*509T>C, XM_011509347.2:c.*509T>G, XM_011509347.1:c.*509T>C, XM_011509347.1:c.*509T>G, NR_002719.2:n.999T>C, NR_002719.2:n.999T>G, XM_047416219.1:c.*509T>C, XM_047416219.1:c.*509T>G, XM_047416228.1:c.*509T>C, XM_047416228.1:c.*509T>G
20.
rs1480023086 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:171341364
(GRCh38)
1:171310503
(GRCh37)
- Canonical SPDI:
- NC_000001.11:171341363:G:C
- Gene:
- FMO4 (Varview), TOP1P1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,500B_downstream_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS: