Links from Gene
Items: 1 to 20 of 33780
1.
rs1491583712 has merged into rs11398565 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA
[Show Flanks]
- Chromosome:
- 6:115967759
(GRCh38)
6:116288922
(GRCh37)
- Canonical SPDI:
- NC_000006.12:115967749:AAAAAAAAAAAA:AAAAAAAAA,NC_000006.12:115967749:AAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:115967749:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:115967749:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:115967749:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:115967749:AAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:115967749:AAAAAAAAAAAA:AAAAAAAAAAAAAAAA
- Gene:
- FRK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0.0002/1
(
ALFA)
-=0.0319/42
(1000Genomes)
- HGVS:
NC_000006.12:g.115967759_115967761del, NC_000006.12:g.115967760_115967761del, NC_000006.12:g.115967761del, NC_000006.12:g.115967761dup, NC_000006.12:g.115967760_115967761dup, NC_000006.12:g.115967759_115967761dup, NC_000006.12:g.115967758_115967761dup, NC_000006.11:g.116288922_116288924del, NC_000006.11:g.116288923_116288924del, NC_000006.11:g.116288924del, NC_000006.11:g.116288924dup, NC_000006.11:g.116288923_116288924dup, NC_000006.11:g.116288922_116288924dup, NC_000006.11:g.116288921_116288924dup
2.
rs1491568890 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GC
[Show Flanks]
- Chromosome:
- 6:115994334
(GRCh38)
6:116315498
(GRCh37)
- Canonical SPDI:
- NC_000006.12:115994334:CGC:CGCGC
- Gene:
- FRK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
CG=0.00007/1
(TOMMO)
- HGVS:
5.
rs1491510662 has merged into rs201062773 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-,ATAT,ATATAT
[Show Flanks]
- Chromosome:
- 6:116066433
(GRCh38)
6:116387596
(GRCh37)
- Canonical SPDI:
- NC_000006.12:116066421:TATATATATATAT:TATATATATAT,NC_000006.12:116066421:TATATATATATAT:TATATATATATATAT,NC_000006.12:116066421:TATATATATATAT:TATATATATATATATAT
- Gene:
- FRK (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATATATATAT=0./0
(
ALFA)
TA=0.02778/6
(Vietnamese)
TA=0.0281/471
(TOMMO)
TA=0.02893/53
(Korea1K)
TA=0.04667/28
(NorthernSweden)
TA=0.04709/47
(GoNL)
TA=0.04821/216
(Estonian)
TA=0.05/2
(GENOME_DK)
TA=0.08307/416
(1000Genomes)
- HGVS:
7.
rs1491492939 has merged into rs561273499 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:116000235
(GRCh38)
6:116321398
(GRCh37)
- Canonical SPDI:
- NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:116000223:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- FRK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
TTTTTTTTTTTTTTTTTTTTTT=0./0
(GENOME_DK)
- HGVS:
NC_000006.12:g.116000235_116000260del, NC_000006.12:g.116000236_116000260del, NC_000006.12:g.116000237_116000260del, NC_000006.12:g.116000238_116000260del, NC_000006.12:g.116000239_116000260del, NC_000006.12:g.116000240_116000260del, NC_000006.12:g.116000241_116000260del, NC_000006.12:g.116000242_116000260del, NC_000006.12:g.116000243_116000260del, NC_000006.12:g.116000244_116000260del, NC_000006.12:g.116000245_116000260del, NC_000006.12:g.116000246_116000260del, NC_000006.12:g.116000247_116000260del, NC_000006.12:g.116000248_116000260del, NC_000006.12:g.116000249_116000260del, NC_000006.12:g.116000250_116000260del, NC_000006.12:g.116000251_116000260del, NC_000006.12:g.116000252_116000260del, NC_000006.12:g.116000253_116000260del, NC_000006.12:g.116000255_116000260del, NC_000006.12:g.116000256_116000260del, NC_000006.12:g.116000257_116000260del, NC_000006.12:g.116000258_116000260del, NC_000006.12:g.116000259_116000260del, NC_000006.12:g.116000260del, NC_000006.12:g.116000260dup, NC_000006.12:g.116000259_116000260dup, NC_000006.12:g.116000258_116000260dup, NC_000006.12:g.116000257_116000260dup, NC_000006.12:g.116000256_116000260dup, NC_000006.12:g.116000255_116000260dup, NC_000006.12:g.116000254_116000260dup, NC_000006.12:g.116000253_116000260dup, NC_000006.12:g.116000252_116000260dup, NC_000006.12:g.116000251_116000260dup, NC_000006.12:g.116000250_116000260dup, NC_000006.12:g.116000249_116000260dup, NC_000006.12:g.116000248_116000260dup, NC_000006.12:g.116000247_116000260dup, NC_000006.12:g.116000246_116000260dup, NC_000006.12:g.116000245_116000260dup, NC_000006.12:g.116000244_116000260dup, NC_000006.12:g.116000243_116000260dup, NC_000006.12:g.116000242_116000260dup, NC_000006.12:g.116000241_116000260dup, NC_000006.12:g.116000240_116000260dup, NC_000006.12:g.116000239_116000260dup, NC_000006.12:g.116000238_116000260dup, NC_000006.12:g.116000233_116000260dup, NC_000006.12:g.116000231_116000260dup, NC_000006.12:g.116000229_116000260dup, NC_000006.11:g.116321398_116321423del, NC_000006.11:g.116321399_116321423del, NC_000006.11:g.116321400_116321423del, NC_000006.11:g.116321401_116321423del, NC_000006.11:g.116321402_116321423del, NC_000006.11:g.116321403_116321423del, NC_000006.11:g.116321404_116321423del, NC_000006.11:g.116321405_116321423del, NC_000006.11:g.116321406_116321423del, NC_000006.11:g.116321407_116321423del, NC_000006.11:g.116321408_116321423del, NC_000006.11:g.116321409_116321423del, NC_000006.11:g.116321410_116321423del, NC_000006.11:g.116321411_116321423del, NC_000006.11:g.116321412_116321423del, NC_000006.11:g.116321413_116321423del, NC_000006.11:g.116321414_116321423del, NC_000006.11:g.116321415_116321423del, NC_000006.11:g.116321416_116321423del, NC_000006.11:g.116321418_116321423del, NC_000006.11:g.116321419_116321423del, NC_000006.11:g.116321420_116321423del, NC_000006.11:g.116321421_116321423del, NC_000006.11:g.116321422_116321423del, NC_000006.11:g.116321423del, NC_000006.11:g.116321423dup, NC_000006.11:g.116321422_116321423dup, NC_000006.11:g.116321421_116321423dup, NC_000006.11:g.116321420_116321423dup, NC_000006.11:g.116321419_116321423dup, NC_000006.11:g.116321418_116321423dup, NC_000006.11:g.116321417_116321423dup, NC_000006.11:g.116321416_116321423dup, NC_000006.11:g.116321415_116321423dup, NC_000006.11:g.116321414_116321423dup, NC_000006.11:g.116321413_116321423dup, NC_000006.11:g.116321412_116321423dup, NC_000006.11:g.116321411_116321423dup, NC_000006.11:g.116321410_116321423dup, NC_000006.11:g.116321409_116321423dup, NC_000006.11:g.116321408_116321423dup, NC_000006.11:g.116321407_116321423dup, NC_000006.11:g.116321406_116321423dup, NC_000006.11:g.116321405_116321423dup, NC_000006.11:g.116321404_116321423dup, NC_000006.11:g.116321403_116321423dup, NC_000006.11:g.116321402_116321423dup, NC_000006.11:g.116321401_116321423dup, NC_000006.11:g.116321396_116321423dup, NC_000006.11:g.116321394_116321423dup, NC_000006.11:g.116321392_116321423dup
8.
rs1491471315 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 6:115953180
(GRCh38)
6:116274343
(GRCh37)
- Canonical SPDI:
- NC_000006.12:115953179:AT:
- Gene:
- FRK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00035/23
(GnomAD)
- HGVS:
9.
rs1491460806 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 6:115953113
(GRCh38)
6:116274276
(GRCh37)
- Canonical SPDI:
- NC_000006.12:115953111:AGA:A
- Gene:
- FRK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
10.
rs1491448960 has merged into rs1422664378 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-,CACCC,CACCCC,CC,CCC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC
[Show Flanks]
- Chromosome:
- 6:115994322
(GRCh38)
6:116315485
(GRCh37)
- Canonical SPDI:
- NC_000006.12:115994321:CC:C,NC_000006.12:115994321:CC:CCACCC,NC_000006.12:115994321:CC:CCACCCC,NC_000006.12:115994321:CC:CCC,NC_000006.12:115994321:CC:CCCC,NC_000006.12:115994321:CC:CCCCC,NC_000006.12:115994321:CC:CCCCCC,NC_000006.12:115994321:CC:CCCCCCC,NC_000006.12:115994321:CC:CCCCCCCC,NC_000006.12:115994321:CC:CCCCCCCCC,NC_000006.12:115994321:CC:CCCCCCCCCC,NC_000006.12:115994321:CC:CCCCCCCCCCC,NC_000006.12:115994321:CC:CCCCCCCCCCCC
- Gene:
- FRK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000006.12:g.115994323del, NC_000006.12:g.115994323_115994324insACCC, NC_000006.12:g.115994323_115994324insACCCC, NC_000006.12:g.115994323dup, NC_000006.12:g.115994322_115994323dup, NC_000006.12:g.115994323_115994324insCCC, NC_000006.12:g.115994323_115994324insCCCC, NC_000006.12:g.115994323_115994324insCCCCC, NC_000006.12:g.115994323_115994324insCCCCCC, NC_000006.12:g.115994323_115994324insCCCCCCC, NC_000006.12:g.115994323_115994324insCCCCCCCC, NC_000006.12:g.115994323_115994324insCCCCCCCCC, NC_000006.12:g.115994323_115994324insCCCCCCCCCC, NC_000006.11:g.116315486del, NC_000006.11:g.116315486_116315487insACCC, NC_000006.11:g.116315486_116315487insACCCC, NC_000006.11:g.116315486dup, NC_000006.11:g.116315485_116315486dup, NC_000006.11:g.116315486_116315487insCCC, NC_000006.11:g.116315486_116315487insCCCC, NC_000006.11:g.116315486_116315487insCCCCC, NC_000006.11:g.116315486_116315487insCCCCCC, NC_000006.11:g.116315486_116315487insCCCCCCC, NC_000006.11:g.116315486_116315487insCCCCCCCC, NC_000006.11:g.116315486_116315487insCCCCCCCCC, NC_000006.11:g.116315486_116315487insCCCCCCCCCC
12.
rs1491321510 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 6:115953112
(GRCh38)
6:116274276
(GRCh37)
- Canonical SPDI:
- NC_000006.12:115953112::T
- Gene:
- FRK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
13.
rs1491288875 has merged into rs5879358 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAAA
[Show Flanks]
- Chromosome:
- 6:115958646
(GRCh38)
6:116279809
(GRCh37)
- Canonical SPDI:
- NC_000006.12:115958643:AAAA:AA,NC_000006.12:115958643:AAAA:AAA,NC_000006.12:115958643:AAAA:AAAAA,NC_000006.12:115958643:AAAA:AAAAAAA
- Gene:
- FRK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAA=0./0
(
ALFA)
A=0.30874/113
(NorthernSweden)
-=0.32398/4979
(TOMMO)
- HGVS:
15.
rs1491263806 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 6:115958706
(GRCh38)
6:116279870
(GRCh37)
- Canonical SPDI:
- NC_000006.12:115958706:G:GG
- Gene:
- FRK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
G=0.00041/4
(GnomAD)
- HGVS:
17.
rs1491224880 has merged into rs34488668 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:116070148
(GRCh38)
6:116391311
(GRCh37)
- Canonical SPDI:
- NC_000006.12:116070134:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:116070134:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:116070134:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:116070134:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:116070134:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:116070134:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:116070134:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:116070134:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:116070134:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
- Gene:
- FRK (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000006.12:g.116070148_116070151del, NC_000006.12:g.116070149_116070151del, NC_000006.12:g.116070150_116070151del, NC_000006.12:g.116070151del, NC_000006.12:g.116070151dup, NC_000006.12:g.116070150_116070151dup, NC_000006.12:g.116070149_116070151dup, NC_000006.12:g.116070148_116070151dup, NC_000006.12:g.116070147_116070151dup, NC_000006.11:g.116391311_116391314del, NC_000006.11:g.116391312_116391314del, NC_000006.11:g.116391313_116391314del, NC_000006.11:g.116391314del, NC_000006.11:g.116391314dup, NC_000006.11:g.116391313_116391314dup, NC_000006.11:g.116391312_116391314dup, NC_000006.11:g.116391311_116391314dup, NC_000006.11:g.116391310_116391314dup
19.
rs1491194552 has merged into rs3049956 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACA>-,CA,CACACA,CACACACA,CACACACACA
[Show Flanks]
- Chromosome:
- 6:116001866
(GRCh38)
6:116323029
(GRCh37)
- Canonical SPDI:
- NC_000006.12:116001856:ACACACACACACA:ACACACACA,NC_000006.12:116001856:ACACACACACACA:ACACACACACA,NC_000006.12:116001856:ACACACACACACA:ACACACACACACACA,NC_000006.12:116001856:ACACACACACACA:ACACACACACACACACA,NC_000006.12:116001856:ACACACACACACA:ACACACACACACACACACA
- Gene:
- FRK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACA=0./0
(
ALFA)
AC=0.04167/9
(Vietnamese)
AC=0.125/1
(KOREAN)
AC=0.30212/1513
(1000Genomes)
AC=0.32433/1453
(Estonian)
AC=0.375/15
(GENOME_DK)
AC=0.38778/387
(GoNL)
AC=0.39167/235
(NorthernSweden)
- HGVS:
20.
rs1491171855 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GGAA
[Show Flanks]
- Chromosome:
- 6:115958750
(GRCh38)
6:116279914
(GRCh37)
- Canonical SPDI:
- NC_000006.12:115958750:GAA:GAAGGAA
- Gene:
- FRK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
GAAG=0.00003/1
(GnomAD)
- HGVS: