Links from Gene
Items: 1 to 20 of 1000
2.
rs1491488853 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 3:126434506
(GRCh38)
3:126153349
(GRCh37)
- Canonical SPDI:
- NC_000003.12:126434501:GAGAGA:GAGA
- Gene:
- CFAP100 (Varview), LOC124906280 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAGA=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
3.
rs1491409521 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 3:126434502
(GRCh38)
3:126153346
(GRCh37)
- Canonical SPDI:
- NC_000003.12:126434502:A:AA
- Gene:
- CFAP100 (Varview), LOC124906280 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS:
4.
rs1491403579 has merged into rs58421889 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:126432292
(GRCh38)
3:126151135
(GRCh37)
- Canonical SPDI:
- NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CFAP100 (Varview), LOC124906280 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
-=0.4831/1862
(ALSPAC)
- HGVS:
NC_000003.12:g.126432292_126432304del, NC_000003.12:g.126432293_126432304del, NC_000003.12:g.126432294_126432304del, NC_000003.12:g.126432296_126432304del, NC_000003.12:g.126432297_126432304del, NC_000003.12:g.126432298_126432304del, NC_000003.12:g.126432299_126432304del, NC_000003.12:g.126432300_126432304del, NC_000003.12:g.126432301_126432304del, NC_000003.12:g.126432302_126432304del, NC_000003.12:g.126432303_126432304del, NC_000003.12:g.126432304del, NC_000003.12:g.126432304dup, NC_000003.12:g.126432303_126432304dup, NC_000003.12:g.126432302_126432304dup, NC_000003.12:g.126432301_126432304dup, NC_000003.12:g.126432300_126432304dup, NC_000003.12:g.126432299_126432304dup, NC_000003.12:g.126432298_126432304dup, NC_000003.12:g.126432297_126432304dup, NC_000003.12:g.126432296_126432304dup, NC_000003.12:g.126432294_126432304dup, NC_000003.12:g.126432293_126432304dup, NC_000003.12:g.126432292_126432304dup, NC_000003.12:g.126432291_126432304dup, NC_000003.12:g.126432290_126432304dup, NC_000003.12:g.126432304_126432305insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.126432304_126432305insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.126151135_126151147del, NC_000003.11:g.126151136_126151147del, NC_000003.11:g.126151137_126151147del, NC_000003.11:g.126151139_126151147del, NC_000003.11:g.126151140_126151147del, NC_000003.11:g.126151141_126151147del, NC_000003.11:g.126151142_126151147del, NC_000003.11:g.126151143_126151147del, NC_000003.11:g.126151144_126151147del, NC_000003.11:g.126151145_126151147del, NC_000003.11:g.126151146_126151147del, NC_000003.11:g.126151147del, NC_000003.11:g.126151147dup, NC_000003.11:g.126151146_126151147dup, NC_000003.11:g.126151145_126151147dup, NC_000003.11:g.126151144_126151147dup, NC_000003.11:g.126151143_126151147dup, NC_000003.11:g.126151142_126151147dup, NC_000003.11:g.126151141_126151147dup, NC_000003.11:g.126151140_126151147dup, NC_000003.11:g.126151139_126151147dup, NC_000003.11:g.126151137_126151147dup, NC_000003.11:g.126151136_126151147dup, NC_000003.11:g.126151135_126151147dup, NC_000003.11:g.126151134_126151147dup, NC_000003.11:g.126151133_126151147dup, NC_000003.11:g.126151147_126151148insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.126151147_126151148insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
5.
rs1491270939 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 3:126411387
(GRCh38)
3:126130230
(GRCh37)
- Canonical SPDI:
- NC_000003.12:126411386:TG:
- Gene:
- CFAP100 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000674/8
(
ALFA)
-=0.000016/2
(GnomAD)
-=0.002498/16
(1000Genomes)
- HGVS:
7.
rs1491123179 has merged into rs1553787527 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,TTT,TTTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 3:126401397
(GRCh38)
3:126120240
(GRCh37)
- Canonical SPDI:
- NC_000003.12:126401394:TTTT:TT,NC_000003.12:126401394:TTTT:TTTTT,NC_000003.12:126401394:TTTT:TTTTTT,NC_000003.12:126401394:TTTT:TTTTTTT,NC_000003.12:126401394:TTTT:TTTTTTTT
- Gene:
- CFAP100 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTT=0./0
(
ALFA)
-=0.06855/439
(1000Genomes)
-=0.13072/217
(Korea1K)
- HGVS:
8.
rs1491112355 has merged into rs58055481 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATATATATATATATATATATATATATATATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
[Show Flanks]
- Chromosome:
- 3:126401404
(GRCh38)
3:126120247
(GRCh37)
- Canonical SPDI:
- NC_000003.12:126401397:TATATATATATATATATATATATATATATATATATATATATATATA:TATATA,NC_000003.12:126401397:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATA,NC_000003.12:126401397:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATA,NC_000003.12:126401397:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATA,NC_000003.12:126401397:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATA,NC_000003.12:126401397:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATA,NC_000003.12:126401397:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATA,NC_000003.12:126401397:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATA,NC_000003.12:126401397:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATA,NC_000003.12:126401397:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATA,NC_000003.12:126401397:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATA,NC_000003.12:126401397:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATA,NC_000003.12:126401397:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATA,NC_000003.12:126401397:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATA,NC_000003.12:126401397:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATA,NC_000003.12:126401397:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATA,NC_000003.12:126401397:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATA,NC_000003.12:126401397:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATA,NC_000003.12:126401397:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATA,NC_000003.12:126401397:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATA,NC_000003.12:126401397:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATA,NC_000003.12:126401397:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000003.12:126401397:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000003.12:126401397:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000003.12:126401397:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000003.12:126401397:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000003.12:126401397:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000003.12:126401397:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000003.12:126401397:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000003.12:126401397:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
- Gene:
- CFAP100 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.126401398TA[3], NC_000003.12:g.126401398TA[4], NC_000003.12:g.126401398TA[5], NC_000003.12:g.126401398TA[6], NC_000003.12:g.126401398TA[7], NC_000003.12:g.126401398TA[8], NC_000003.12:g.126401398TA[9], NC_000003.12:g.126401398TA[10], NC_000003.12:g.126401398TA[11], NC_000003.12:g.126401398TA[12], NC_000003.12:g.126401398TA[13], NC_000003.12:g.126401398TA[14], NC_000003.12:g.126401398TA[15], NC_000003.12:g.126401398TA[16], NC_000003.12:g.126401398TA[17], NC_000003.12:g.126401398TA[18], NC_000003.12:g.126401398TA[19], NC_000003.12:g.126401398TA[20], NC_000003.12:g.126401398TA[21], NC_000003.12:g.126401398TA[22], NC_000003.12:g.126401398TA[24], NC_000003.12:g.126401398TA[25], NC_000003.12:g.126401398TA[26], NC_000003.12:g.126401398TA[27], NC_000003.12:g.126401398TA[28], NC_000003.12:g.126401398TA[29], NC_000003.12:g.126401398TA[30], NC_000003.12:g.126401398TA[31], NC_000003.12:g.126401398TA[32], NC_000003.12:g.126401398TA[33], NC_000003.11:g.126120241TA[3], NC_000003.11:g.126120241TA[4], NC_000003.11:g.126120241TA[5], NC_000003.11:g.126120241TA[6], NC_000003.11:g.126120241TA[7], NC_000003.11:g.126120241TA[8], NC_000003.11:g.126120241TA[9], NC_000003.11:g.126120241TA[10], NC_000003.11:g.126120241TA[11], NC_000003.11:g.126120241TA[12], NC_000003.11:g.126120241TA[13], NC_000003.11:g.126120241TA[14], NC_000003.11:g.126120241TA[15], NC_000003.11:g.126120241TA[16], NC_000003.11:g.126120241TA[17], NC_000003.11:g.126120241TA[18], NC_000003.11:g.126120241TA[19], NC_000003.11:g.126120241TA[20], NC_000003.11:g.126120241TA[21], NC_000003.11:g.126120241TA[22], NC_000003.11:g.126120241TA[24], NC_000003.11:g.126120241TA[25], NC_000003.11:g.126120241TA[26], NC_000003.11:g.126120241TA[27], NC_000003.11:g.126120241TA[28], NC_000003.11:g.126120241TA[29], NC_000003.11:g.126120241TA[30], NC_000003.11:g.126120241TA[31], NC_000003.11:g.126120241TA[32], NC_000003.11:g.126120241TA[33]
9.
rs1491028690 has merged into rs35529379 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CC>-,C,CCC,CCCC
[Show Flanks]
- Chromosome:
- 3:126422495
(GRCh38)
3:126141338
(GRCh37)
- Canonical SPDI:
- NC_000003.12:126422488:CCCCCCCC:CCCCCC,NC_000003.12:126422488:CCCCCCCC:CCCCCCC,NC_000003.12:126422488:CCCCCCCC:CCCCCCCCC,NC_000003.12:126422488:CCCCCCCC:CCCCCCCCCC
- Gene:
- CFAP100 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCCCCC=0./0
(
ALFA)
-=0.303738/65
(Vietnamese)
-=0.33623/1664
(1000Genomes)
-=0.360781/95495
(TOPMED)
-=0.362729/1345
(TWINSUK)
-=0.363047/1625
(Estonian)
-=0.368737/368
(GoNL)
-=0.381941/1472
(ALSPAC)
-=0.41/246
(NorthernSweden)
-=0.453603/831
(Korea1K)
- HGVS:
NC_000003.12:g.126422495_126422496del, NC_000003.12:g.126422496del, NC_000003.12:g.126422496dup, NC_000003.12:g.126422495_126422496dup, NC_000003.11:g.126141338_126141339del, NC_000003.11:g.126141339del, NC_000003.11:g.126141339dup, NC_000003.11:g.126141338_126141339dup, XM_017006325.2:c.*643_*644del, XM_017006325.2:c.*644del, XM_017006325.2:c.*644dup, XM_017006325.2:c.*643_*644dup, XM_017006325.1:c.*643_*644del, XM_017006325.1:c.*644del, XM_017006325.1:c.*644dup, XM_017006325.1:c.*643_*644dup
10.
rs1490817522 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:126399551
(GRCh38)
3:126118394
(GRCh37)
- Canonical SPDI:
- NC_000003.12:126399550:T:C
- Gene:
- CFAP100 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000142/2
(
ALFA)
C=0.000029/4
(GnomAD)
C=0.000034/9
(TOPMED)
- HGVS:
11.
rs1490809053 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:126423824
(GRCh38)
3:126142667
(GRCh37)
- Canonical SPDI:
- NC_000003.12:126423823:G:A
- Gene:
- CFAP100 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
12.
rs1490792930 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:126424941
(GRCh38)
3:126143784
(GRCh37)
- Canonical SPDI:
- NC_000003.12:126424940:C:T
- Gene:
- CFAP100 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
13.
rs1490765014 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 3:126435599
(GRCh38)
3:126154442
(GRCh37)
- Canonical SPDI:
- NC_000003.12:126435598:G:A,NC_000003.12:126435598:G:C
- Gene:
- CFAP100 (Varview), LOC124906280 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490746378 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:126395093
(GRCh38)
3:126113936
(GRCh37)
- Canonical SPDI:
- NC_000003.12:126395092:C:T
- Gene:
- CFAP100 (Varview), CFAP100-DT (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
15.
rs1490653237 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:126400520
(GRCh38)
3:126119363
(GRCh37)
- Canonical SPDI:
- NC_000003.12:126400519:A:G
- Gene:
- CFAP100 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000142/2
(
ALFA)
G=0.000023/6
(TOPMED)
G=0.000029/4
(GnomAD)
G=0.000035/1
(TOMMO)
- HGVS:
16.
rs1490516055 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 3:126409560
(GRCh38)
3:126128403
(GRCh37)
- Canonical SPDI:
- NC_000003.12:126409559:C:A
- Gene:
- CFAP100 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
17.
rs1490359025 has merged into rs58421889 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:126432292
(GRCh38)
3:126151135
(GRCh37)
- Canonical SPDI:
- NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:126432282:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CFAP100 (Varview), LOC124906280 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
-=0.4831/1862
(ALSPAC)
- HGVS:
NC_000003.12:g.126432292_126432304del, NC_000003.12:g.126432293_126432304del, NC_000003.12:g.126432294_126432304del, NC_000003.12:g.126432296_126432304del, NC_000003.12:g.126432297_126432304del, NC_000003.12:g.126432298_126432304del, NC_000003.12:g.126432299_126432304del, NC_000003.12:g.126432300_126432304del, NC_000003.12:g.126432301_126432304del, NC_000003.12:g.126432302_126432304del, NC_000003.12:g.126432303_126432304del, NC_000003.12:g.126432304del, NC_000003.12:g.126432304dup, NC_000003.12:g.126432303_126432304dup, NC_000003.12:g.126432302_126432304dup, NC_000003.12:g.126432301_126432304dup, NC_000003.12:g.126432300_126432304dup, NC_000003.12:g.126432299_126432304dup, NC_000003.12:g.126432298_126432304dup, NC_000003.12:g.126432297_126432304dup, NC_000003.12:g.126432296_126432304dup, NC_000003.12:g.126432294_126432304dup, NC_000003.12:g.126432293_126432304dup, NC_000003.12:g.126432292_126432304dup, NC_000003.12:g.126432291_126432304dup, NC_000003.12:g.126432290_126432304dup, NC_000003.12:g.126432304_126432305insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.126432304_126432305insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.126151135_126151147del, NC_000003.11:g.126151136_126151147del, NC_000003.11:g.126151137_126151147del, NC_000003.11:g.126151139_126151147del, NC_000003.11:g.126151140_126151147del, NC_000003.11:g.126151141_126151147del, NC_000003.11:g.126151142_126151147del, NC_000003.11:g.126151143_126151147del, NC_000003.11:g.126151144_126151147del, NC_000003.11:g.126151145_126151147del, NC_000003.11:g.126151146_126151147del, NC_000003.11:g.126151147del, NC_000003.11:g.126151147dup, NC_000003.11:g.126151146_126151147dup, NC_000003.11:g.126151145_126151147dup, NC_000003.11:g.126151144_126151147dup, NC_000003.11:g.126151143_126151147dup, NC_000003.11:g.126151142_126151147dup, NC_000003.11:g.126151141_126151147dup, NC_000003.11:g.126151140_126151147dup, NC_000003.11:g.126151139_126151147dup, NC_000003.11:g.126151137_126151147dup, NC_000003.11:g.126151136_126151147dup, NC_000003.11:g.126151135_126151147dup, NC_000003.11:g.126151134_126151147dup, NC_000003.11:g.126151133_126151147dup, NC_000003.11:g.126151147_126151148insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.126151147_126151148insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
18.
rs1490351378 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:126416947
(GRCh38)
3:126135790
(GRCh37)
- Canonical SPDI:
- NC_000003.12:126416946:G:A
- Gene:
- CFAP100 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000023/6
(TOPMED)
A=0.000029/4
(GnomAD)
A=0.000156/1
(1000Genomes)
- HGVS:
19.
rs1490315113 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 3:126423438
(GRCh38)
3:126142281
(GRCh37)
- Canonical SPDI:
- NC_000003.12:126423437:C:G
- Gene:
- CFAP100 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
20.
rs1490254314 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:126394819
(GRCh38)
3:126113662
(GRCh37)
- Canonical SPDI:
- NC_000003.12:126394818:C:T
- Gene:
- CFAP100 (Varview), CFAP100-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS: