Links from Gene
Items: 1 to 20 of 8836
1.
rs1491576687 has merged into rs34529047 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:171256283
(GRCh38)
1:171225422
(GRCh37)
- Canonical SPDI:
- NC_000001.11:171256272:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:171256272:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:171256272:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:171256272:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:171256272:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:171256272:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:171256272:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:171256272:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:171256272:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:171256272:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:171256272:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:171256272:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:171256272:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:171256272:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:171256272:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:171256272:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:171256272:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- FMO1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.171256283_171256294del, NC_000001.11:g.171256285_171256294del, NC_000001.11:g.171256286_171256294del, NC_000001.11:g.171256287_171256294del, NC_000001.11:g.171256288_171256294del, NC_000001.11:g.171256289_171256294del, NC_000001.11:g.171256290_171256294del, NC_000001.11:g.171256291_171256294del, NC_000001.11:g.171256292_171256294del, NC_000001.11:g.171256293_171256294del, NC_000001.11:g.171256294del, NC_000001.11:g.171256294dup, NC_000001.11:g.171256293_171256294dup, NC_000001.11:g.171256292_171256294dup, NC_000001.11:g.171256291_171256294dup, NC_000001.11:g.171256290_171256294dup, NC_000001.11:g.171256289_171256294dup, NC_000001.10:g.171225422_171225433del, NC_000001.10:g.171225424_171225433del, NC_000001.10:g.171225425_171225433del, NC_000001.10:g.171225426_171225433del, NC_000001.10:g.171225427_171225433del, NC_000001.10:g.171225428_171225433del, NC_000001.10:g.171225429_171225433del, NC_000001.10:g.171225430_171225433del, NC_000001.10:g.171225431_171225433del, NC_000001.10:g.171225432_171225433del, NC_000001.10:g.171225433del, NC_000001.10:g.171225433dup, NC_000001.10:g.171225432_171225433dup, NC_000001.10:g.171225431_171225433dup, NC_000001.10:g.171225430_171225433dup, NC_000001.10:g.171225429_171225433dup, NC_000001.10:g.171225428_171225433dup
2.
rs1491489361 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 1:171284187
(GRCh38)
1:171253327
(GRCh37)
- Canonical SPDI:
- NC_000001.11:171284187:C:CC
- Gene:
- FMO1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
C=0.00014/37
(TOPMED)
C=0.000266/22
(GnomAD)
- HGVS:
3.
rs1491458535 has merged into rs199581410 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACA>-,CA,CACACACA,CACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA
[Show Flanks]
- Chromosome:
- 1:171264341
(GRCh38)
1:171233480
(GRCh37)
- Canonical SPDI:
- NC_000001.11:171264335:ACACACACACACACACA:ACACA,NC_000001.11:171264335:ACACACACACACACACA:ACACACA,NC_000001.11:171264335:ACACACACACACACACA:ACACACACACACA,NC_000001.11:171264335:ACACACACACACACACA:ACACACACACACACA,NC_000001.11:171264335:ACACACACACACACACA:ACACACACACACACACACA,NC_000001.11:171264335:ACACACACACACACACA:ACACACACACACACACACACA,NC_000001.11:171264335:ACACACACACACACACA:ACACACACACACACACACACACA
- Gene:
- FMO1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACA=0./0
(
ALFA)
ACAC=0.00739/37
(1000Genomes)
ACAC=0.03333/20
(NorthernSweden)
ACAC=0.05/2
(GENOME_DK)
- HGVS:
NC_000001.11:g.171264337CA[2], NC_000001.11:g.171264337CA[3], NC_000001.11:g.171264337CA[6], NC_000001.11:g.171264337CA[7], NC_000001.11:g.171264337CA[9], NC_000001.11:g.171264337CA[10], NC_000001.11:g.171264337CA[11], NC_000001.10:g.171233476CA[2], NC_000001.10:g.171233476CA[3], NC_000001.10:g.171233476CA[6], NC_000001.10:g.171233476CA[7], NC_000001.10:g.171233476CA[9], NC_000001.10:g.171233476CA[10], NC_000001.10:g.171233476CA[11]
5.
rs1491444527 has merged into rs28360426 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA,AAAAA,AAAAAAA
[Show Flanks]
- Chromosome:
- 1:171283318
(GRCh38)
1:171252457
(GRCh37)
- Canonical SPDI:
- NC_000001.11:171283310:AAAAAAAAA:AAAAAAA,NC_000001.11:171283310:AAAAAAAAA:AAAAAAAA,NC_000001.11:171283310:AAAAAAAAA:AAAAAAAAAA,NC_000001.11:171283310:AAAAAAAAA:AAAAAAAAAAA,NC_000001.11:171283310:AAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:171283310:AAAAAAAAA:AAAAAAAAAAAAAA
- Gene:
- FMO1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
A=0.0941/54
(NorthernSweden)
A=0.175/7
(GENOME_DK)
- HGVS:
NC_000001.11:g.171283318_171283319del, NC_000001.11:g.171283319del, NC_000001.11:g.171283319dup, NC_000001.11:g.171283318_171283319dup, NC_000001.11:g.171283317_171283319dup, NC_000001.11:g.171283315_171283319dup, NC_000001.10:g.171252457_171252458del, NC_000001.10:g.171252458del, NC_000001.10:g.171252458dup, NC_000001.10:g.171252457_171252458dup, NC_000001.10:g.171252456_171252458dup, NC_000001.10:g.171252454_171252458dup
6.
rs1491423366 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 1:171284188
(GRCh38)
1:171253327
(GRCh37)
- Canonical SPDI:
- NC_000001.11:171284186:ACA:A
- Gene:
- FMO1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.00002/2
(GnomAD)
- HGVS:
7.
rs1491393304 has merged into rs71561566 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:171260923
(GRCh38)
1:171230062
(GRCh37)
- Canonical SPDI:
- NC_000001.11:171260912:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:171260912:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:171260912:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:171260912:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:171260912:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:171260912:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:171260912:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:171260912:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:171260912:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:171260912:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:171260912:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:171260912:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:171260912:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:171260912:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:171260912:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:171260912:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:171260912:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:171260912:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:171260912:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:171260912:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:171260912:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:171260912:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:171260912:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:171260912:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:171260912:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- FMO1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.000068/18
(TOPMED)
- HGVS:
NC_000001.11:g.171260923_171260935del, NC_000001.11:g.171260924_171260935del, NC_000001.11:g.171260925_171260935del, NC_000001.11:g.171260926_171260935del, NC_000001.11:g.171260927_171260935del, NC_000001.11:g.171260929_171260935del, NC_000001.11:g.171260930_171260935del, NC_000001.11:g.171260931_171260935del, NC_000001.11:g.171260932_171260935del, NC_000001.11:g.171260933_171260935del, NC_000001.11:g.171260934_171260935del, NC_000001.11:g.171260935del, NC_000001.11:g.171260935dup, NC_000001.11:g.171260934_171260935dup, NC_000001.11:g.171260933_171260935dup, NC_000001.11:g.171260932_171260935dup, NC_000001.11:g.171260931_171260935dup, NC_000001.11:g.171260930_171260935dup, NC_000001.11:g.171260929_171260935dup, NC_000001.11:g.171260928_171260935dup, NC_000001.11:g.171260927_171260935dup, NC_000001.11:g.171260926_171260935dup, NC_000001.11:g.171260925_171260935dup, NC_000001.11:g.171260924_171260935dup, NC_000001.11:g.171260935_171260936insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.171230062_171230074del, NC_000001.10:g.171230063_171230074del, NC_000001.10:g.171230064_171230074del, NC_000001.10:g.171230065_171230074del, NC_000001.10:g.171230066_171230074del, NC_000001.10:g.171230068_171230074del, NC_000001.10:g.171230069_171230074del, NC_000001.10:g.171230070_171230074del, NC_000001.10:g.171230071_171230074del, NC_000001.10:g.171230072_171230074del, NC_000001.10:g.171230073_171230074del, NC_000001.10:g.171230074del, NC_000001.10:g.171230074dup, NC_000001.10:g.171230073_171230074dup, NC_000001.10:g.171230072_171230074dup, NC_000001.10:g.171230071_171230074dup, NC_000001.10:g.171230070_171230074dup, NC_000001.10:g.171230069_171230074dup, NC_000001.10:g.171230068_171230074dup, NC_000001.10:g.171230067_171230074dup, NC_000001.10:g.171230066_171230074dup, NC_000001.10:g.171230065_171230074dup, NC_000001.10:g.171230064_171230074dup, NC_000001.10:g.171230063_171230074dup, NC_000001.10:g.171230074_171230075insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
9.
rs1491148176 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 1:171283311
(GRCh38)
1:171252451
(GRCh37)
- Canonical SPDI:
- NC_000001.11:171283311::G
- Gene:
- FMO1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
10.
rs1491058339 has merged into rs35698046 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,TT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:171279099
(GRCh38)
1:171248238
(GRCh37)
- Canonical SPDI:
- NC_000001.11:171279089:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:171279089:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:171279089:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:171279089:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:171279089:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:171279089:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:171279089:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:171279089:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:171279089:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:171279089:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:171279089:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:171279089:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:171279089:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- FMO1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
T=0.275/11
(GENOME_DK)
- HGVS:
NC_000001.11:g.171279099_171279105del, NC_000001.11:g.171279101_171279105del, NC_000001.11:g.171279104_171279105del, NC_000001.11:g.171279105del, NC_000001.11:g.171279105dup, NC_000001.11:g.171279104_171279105dup, NC_000001.11:g.171279103_171279105dup, NC_000001.11:g.171279098_171279105dup, NC_000001.11:g.171279097_171279105dup, NC_000001.11:g.171279096_171279105dup, NC_000001.11:g.171279095_171279105dup, NC_000001.11:g.171279094_171279105dup, NC_000001.11:g.171279105_171279106insTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.171248238_171248244del, NC_000001.10:g.171248240_171248244del, NC_000001.10:g.171248243_171248244del, NC_000001.10:g.171248244del, NC_000001.10:g.171248244dup, NC_000001.10:g.171248243_171248244dup, NC_000001.10:g.171248242_171248244dup, NC_000001.10:g.171248237_171248244dup, NC_000001.10:g.171248236_171248244dup, NC_000001.10:g.171248235_171248244dup, NC_000001.10:g.171248234_171248244dup, NC_000001.10:g.171248233_171248244dup, NC_000001.10:g.171248244_171248245insTTTTTTTTTTTTTTTTTTT
11.
rs1490992026 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA
[Show Flanks]
- Chromosome:
- 1:171284757
(GRCh38)
1:171253896
(GRCh37)
- Canonical SPDI:
- NC_000001.11:171284751:AAAAAAA:AAAAA,NC_000001.11:171284751:AAAAAAA:AAAAAA,NC_000001.11:171284751:AAAAAAA:AAAAAAAA
- Gene:
- FMO1 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
A=0.000015/2
(GnomAD)
-=0.001133/19
(TOMMO)
- HGVS:
12.
rs1490980468 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 1:171281252
(GRCh38)
1:171250391
(GRCh37)
- Canonical SPDI:
- NC_000001.11:171281251:A:C,NC_000001.11:171281251:A:G
- Gene:
- FMO1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000142/2
(
ALFA)
G=0.000021/3
(GnomAD)
G=0.000038/10
(TOPMED)
- HGVS:
13.
rs1490966306 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:171285913
(GRCh38)
1:171255052
(GRCh37)
- Canonical SPDI:
- NC_000001.11:171285912:G:T
- Gene:
- FMO1 (Varview)
- Functional Consequence:
- 3_prime_UTR_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:
NC_000001.11:g.171285913G>T, NC_000001.10:g.171255052G>T, XM_005245038.5:c.*659G>T, XM_005245038.4:c.*659G>T, XM_005245038.3:c.*659G>T, XM_006711241.5:c.*369G>T, XM_006711241.4:c.*369G>T, XM_006711241.3:c.*369G>T, XM_006711241.2:c.*369G>T, XM_006711241.1:c.*369G>T, XM_005245037.4:c.*369G>T, XM_005245037.3:c.*369G>T, XM_005245037.2:c.*369G>T, XM_005245037.1:c.*369G>T, NM_002021.3:c.*369G>T, NM_002021.2:c.*369G>T, NM_002021.1:c.*369G>T, NM_001282693.2:c.*369G>T, NM_001282693.1:c.*369G>T, NM_001282694.2:c.*369G>T, NM_001282694.1:c.*369G>T, NM_001282692.1:c.*369G>T
14.
rs1490711238 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:171253605
(GRCh38)
1:171222744
(GRCh37)
- Canonical SPDI:
- NC_000001.11:171253604:T:C
- Gene:
- FMO1 (Varview), LOC105371611 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
15.
rs1490569788 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:171268553
(GRCh38)
1:171237692
(GRCh37)
- Canonical SPDI:
- NC_000001.11:171268552:G:A
- Gene:
- FMO1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0./0
(KOREAN)
A=0.000011/3
(TOPMED)
- HGVS:
16.
rs1490531368 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:171253081
(GRCh38)
1:171222220
(GRCh37)
- Canonical SPDI:
- NC_000001.11:171253080:A:G
- Gene:
- FMO1 (Varview), LOC105371611 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
17.
rs1490379119 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:171276590
(GRCh38)
1:171245729
(GRCh37)
- Canonical SPDI:
- NC_000001.11:171276589:G:T
- Gene:
- FMO1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000078/11
(GnomAD)
T=0.000151/40
(TOPMED)
- HGVS:
18.
rs1490373529 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:171264301
(GRCh38)
1:171233440
(GRCh37)
- Canonical SPDI:
- NC_000001.11:171264300:T:C
- Gene:
- FMO1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
19.
rs1490344445 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
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- Chromosome:
- 1:171280900
(GRCh38)
1:171250039
(GRCh37)
- Canonical SPDI:
- NC_000001.11:171280899:C:T
- Gene:
- FMO1 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000001.11:g.171280900C>T, NC_000001.10:g.171250039C>T, XM_005245038.5:c.742C>T, XM_005245038.4:c.742C>T, XM_005245038.3:c.742C>T, XM_005245038.2:c.742C>T, XM_005245038.1:c.742C>T, XM_006711241.5:c.742C>T, XM_006711241.4:c.742C>T, XM_006711241.3:c.742C>T, XM_006711241.2:c.742C>T, XM_006711241.1:c.742C>T, XM_006711242.5:c.742C>T, XM_006711242.4:c.742C>T, XM_006711242.3:c.742C>T, XM_006711242.2:c.742C>T, XM_006711242.1:c.742C>T, XM_005245037.4:c.454C>T, XM_005245037.3:c.454C>T, XM_005245037.2:c.454C>T, XM_005245037.1:c.454C>T, NM_002021.3:c.742C>T, NM_002021.2:c.742C>T, NM_002021.1:c.742C>T, NM_001282693.2:c.742C>T, NM_001282693.1:c.742C>T, NM_001282694.2:c.553C>T, NM_001282694.1:c.553C>T, NM_001282692.1:c.754C>T, XP_005245095.1:p.Pro248Ser, XP_006711304.1:p.Pro248Ser, XP_006711305.1:p.Pro248Ser, XP_005245094.1:p.Pro152Ser, NP_002012.1:p.Pro248Ser, NP_001269622.1:p.Pro248Ser, NP_001269623.1:p.Pro185Ser, NP_001269621.1:p.Pro252Ser