Links from Gene
Items: 1 to 20 of 46575
1.
rs1491588574 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 6:108293939
(GRCh38)
6:108615144
(GRCh37)
- Canonical SPDI:
- NC_000006.12:108293939::C
- Gene:
- AFG1L (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.00008/1
(
ALFA)
C=0.00055/1
(Korea1K)
- HGVS:
2.
rs1491559325 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 6:108380522
(GRCh38)
6:108701727
(GRCh37)
- Canonical SPDI:
- NC_000006.12:108380522:GGGG:GGGGG
- Gene:
- AFG1L (Varview), LOC124901371 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGG=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
3.
rs1491548180 has merged into rs757924406 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:108399782
(GRCh38)
6:108720986
(GRCh37)
- Canonical SPDI:
- NC_000006.12:108399769:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:108399769:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:108399769:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:108399769:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:108399769:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:108399769:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:108399769:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:108399769:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:108399769:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:108399769:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:108399769:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:108399769:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:108399769:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:108399769:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:108399769:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:108399769:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:108399769:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:108399769:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:108399769:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:108399769:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:108399769:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:108399769:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- AFG1L (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.1/4
(GENOME_DK)
- HGVS:
NC_000006.12:g.108399782_108399796del, NC_000006.12:g.108399783_108399796del, NC_000006.12:g.108399784_108399796del, NC_000006.12:g.108399785_108399796del, NC_000006.12:g.108399786_108399796del, NC_000006.12:g.108399787_108399796del, NC_000006.12:g.108399788_108399796del, NC_000006.12:g.108399789_108399796del, NC_000006.12:g.108399790_108399796del, NC_000006.12:g.108399791_108399796del, NC_000006.12:g.108399792_108399796del, NC_000006.12:g.108399793_108399796del, NC_000006.12:g.108399794_108399796del, NC_000006.12:g.108399795_108399796del, NC_000006.12:g.108399796del, NC_000006.12:g.108399796dup, NC_000006.12:g.108399795_108399796dup, NC_000006.12:g.108399794_108399796dup, NC_000006.12:g.108399793_108399796dup, NC_000006.12:g.108399792_108399796dup, NC_000006.12:g.108399790_108399796dup, NC_000006.12:g.108399789_108399796dup, NC_000006.11:g.108720986_108721000del, NC_000006.11:g.108720987_108721000del, NC_000006.11:g.108720988_108721000del, NC_000006.11:g.108720989_108721000del, NC_000006.11:g.108720990_108721000del, NC_000006.11:g.108720991_108721000del, NC_000006.11:g.108720992_108721000del, NC_000006.11:g.108720993_108721000del, NC_000006.11:g.108720994_108721000del, NC_000006.11:g.108720995_108721000del, NC_000006.11:g.108720996_108721000del, NC_000006.11:g.108720997_108721000del, NC_000006.11:g.108720998_108721000del, NC_000006.11:g.108720999_108721000del, NC_000006.11:g.108721000del, NC_000006.11:g.108721000dup, NC_000006.11:g.108720999_108721000dup, NC_000006.11:g.108720998_108721000dup, NC_000006.11:g.108720997_108721000dup, NC_000006.11:g.108720996_108721000dup, NC_000006.11:g.108720994_108721000dup, NC_000006.11:g.108720993_108721000dup
4.
rs1491536182 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 6:108383916
(GRCh38)
6:108705121
(GRCh37)
- Canonical SPDI:
- NC_000006.12:108383916:GGG:GGGG
- Gene:
- AFG1L (Varview), LOC124901371 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
GGGG=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
6.
rs1491482702 has merged into rs776169266 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:108293946
(GRCh38)
6:108615150
(GRCh37)
- Canonical SPDI:
- NC_000006.12:108293938:TTTTTTTTTTTTTTTTT:TTTTTTT,NC_000006.12:108293938:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:108293938:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:108293938:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:108293938:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:108293938:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:108293938:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:108293938:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:108293938:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:108293938:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:108293938:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:108293938:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:108293938:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:108293938:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:108293938:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:108293938:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:108293938:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:108293938:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:108293938:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:108293938:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:108293938:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:108293938:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:108293938:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:108293938:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:108293938:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:108293938:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:108293938:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:108293938:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:108293938:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:108293938:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:108293938:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:108293938:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- AFG1L (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTT=0./0
(
ALFA)
-=0.175/7
(GENOME_DK)
- HGVS:
NC_000006.12:g.108293946_108293955del, NC_000006.12:g.108293949_108293955del, NC_000006.12:g.108293950_108293955del, NC_000006.12:g.108293951_108293955del, NC_000006.12:g.108293952_108293955del, NC_000006.12:g.108293953_108293955del, NC_000006.12:g.108293954_108293955del, NC_000006.12:g.108293955del, NC_000006.12:g.108293955dup, NC_000006.12:g.108293954_108293955dup, NC_000006.12:g.108293953_108293955dup, NC_000006.12:g.108293952_108293955dup, NC_000006.12:g.108293951_108293955dup, NC_000006.12:g.108293950_108293955dup, NC_000006.12:g.108293946_108293955dup, NC_000006.12:g.108293945_108293955dup, NC_000006.12:g.108293944_108293955dup, NC_000006.12:g.108293943_108293955dup, NC_000006.12:g.108293942_108293955dup, NC_000006.12:g.108293941_108293955dup, NC_000006.12:g.108293955_108293956insTTTTTTTTTTTTTTTTTT, NC_000006.12:g.108293955_108293956insTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.108293955_108293956insTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.108293955_108293956insTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.108293955_108293956insTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.108293955_108293956insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.108293955_108293956insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.108293955_108293956insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.108293955_108293956insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.108293955_108293956insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.108293955_108293956insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.108293955_108293956insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.108615150_108615159del, NC_000006.11:g.108615153_108615159del, NC_000006.11:g.108615154_108615159del, NC_000006.11:g.108615155_108615159del, NC_000006.11:g.108615156_108615159del, NC_000006.11:g.108615157_108615159del, NC_000006.11:g.108615158_108615159del, NC_000006.11:g.108615159del, NC_000006.11:g.108615159dup, NC_000006.11:g.108615158_108615159dup, NC_000006.11:g.108615157_108615159dup, NC_000006.11:g.108615156_108615159dup, NC_000006.11:g.108615155_108615159dup, NC_000006.11:g.108615154_108615159dup, NC_000006.11:g.108615150_108615159dup, NC_000006.11:g.108615149_108615159dup, NC_000006.11:g.108615148_108615159dup, NC_000006.11:g.108615147_108615159dup, NC_000006.11:g.108615146_108615159dup, NC_000006.11:g.108615145_108615159dup, NC_000006.11:g.108615159_108615160insTTTTTTTTTTTTTTTTTT, NC_000006.11:g.108615159_108615160insTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.108615159_108615160insTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.108615159_108615160insTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.108615159_108615160insTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.108615159_108615160insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.108615159_108615160insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.108615159_108615160insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.108615159_108615160insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.108615159_108615160insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.108615159_108615160insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.108615159_108615160insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
7.
rs1491465471 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 6:108505080
(GRCh38)
6:108826284
(GRCh37)
- Canonical SPDI:
- NC_000006.12:108505080::A
- Gene:
- AFG1L (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000036/1
(GnomAD)
- HGVS:
8.
rs1491420455 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 6:108400655
(GRCh38)
6:108721859
(GRCh37)
- Canonical SPDI:
- NC_000006.12:108400654:AA:
- Gene:
- AFG1L (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000009/1
(GnomAD)
- HGVS:
10.
rs1491388442 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATT
[Show Flanks]
- Chromosome:
- 6:108330183
(GRCh38)
6:108651388
(GRCh37)
- Canonical SPDI:
- NC_000006.12:108330183:TT:TTATT
- Gene:
- AFG1L (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTATT=0./0
(
ALFA)
TTA=0.00125/25
(GnomAD)
- HGVS:
12.
rs1491371841 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 6:108402490
(GRCh38)
6:108723695
(GRCh37)
- Canonical SPDI:
- NC_000006.12:108402490::T
- Gene:
- AFG1L (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/1
(GnomAD)
- HGVS:
13.
rs1491361390 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 6:108400700
(GRCh38)
6:108721904
(GRCh37)
- Canonical SPDI:
- NC_000006.12:108400699:TT:
- Gene:
- AFG1L (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000019/2
(GnomAD)
-=0.000142/2
(TOMMO)
-=0.001272/2
(Korea1K)
- HGVS:
14.
rs1491329086 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 6:108417265
(GRCh38)
6:108738470
(GRCh37)
- Canonical SPDI:
- NC_000006.12:108417265::A
- Gene:
- AFG1L (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
A=0.00039/11
(TOMMO)
- HGVS:
15.
rs1491315596 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,ATTATATATATTTAATATATATTATATATAATATA,ATTATATATATTTAATATATATTATATATAATATATATTATATAATTATATATATA
[Show Flanks]
- Chromosome:
- 6:108400700
(GRCh38)
6:108721905
(GRCh37)
- Canonical SPDI:
- NC_000006.12:108400700::A,NC_000006.12:108400700::ATTATATATATTTAATATATATTATATATAATATA,NC_000006.12:108400700::ATTATATATATTTAATATATATTATATATAATATATATTATATAATTATATATATA
- Gene:
- AFG1L (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00042/5
(
ALFA)
A=0.00007/1
(TOMMO)
A=0.00338/2
(NorthernSweden)
- HGVS:
16.
rs1491299032 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 6:108488845
(GRCh38)
6:108810049
(GRCh37)
- Canonical SPDI:
- NC_000006.12:108488845:T:TT
- Gene:
- AFG1L (Varview), LOC124901370 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
17.
rs1491264610 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 6:108449159
(GRCh38)
6:108770362
(GRCh37)
- Canonical SPDI:
- NC_000006.12:108449158:GT:
- Gene:
- AFG1L (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00252/38
(
ALFA)
-=0.00007/2
(TOMMO)
-=0.00062/4
(1000Genomes)
-=0.00157/122
(GnomAD)
- HGVS:
19.
rs1491229432 has merged into rs869207435 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 6:108334559
(GRCh38)
6:108655763
(GRCh37)
- Canonical SPDI:
- NC_000006.12:108334557:ACA:A
- Gene:
- AFG1L (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00936/111
(
ALFA)
-=0.01072/119
(TOMMO)
-=0.01317/1286
(GnomAD)
-=0.01468/94
(1000Genomes)
-=0.03429/50
(Korea1K)
- HGVS:
20.
rs1491206198 has merged into rs10603688 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATA>-,TA,TATATA,TATATATA,TATATATATA
[Show Flanks]
- Chromosome:
- 6:108449174
(GRCh38)
6:108770377
(GRCh37)
- Canonical SPDI:
- NC_000006.12:108449159:TATATATATATATATATA:TATATATATATATA,NC_000006.12:108449159:TATATATATATATATATA:TATATATATATATATA,NC_000006.12:108449159:TATATATATATATATATA:TATATATATATATATATATA,NC_000006.12:108449159:TATATATATATATATATA:TATATATATATATATATATATA,NC_000006.12:108449159:TATATATATATATATATA:TATATATATATATATATATATATA
- Gene:
- AFG1L (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATATATATATATATATA=0./0
(
ALFA)
-=0.007/27
(ALSPAC)
TA=0.325/13
(GENOME_DK)
TA=0.4651/2329
(1000Genomes)
-=0.4867/292
(NorthernSweden)
- HGVS: