Links from Gene
Items: 1 to 20 of 1000
1.
rs1491503291 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 17:75112575
(GRCh38)
17:73108671
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75112575::G
- Gene:
- ARMC7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00052/18
(GnomAD)
- HGVS:
2.
rs1491267620 has merged into rs71159437 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 17:75119638
(GRCh38)
17:73115733
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75119626:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:75119626:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:75119626:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:75119626:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:75119626:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:75119626:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
- Gene:
- ARMC7 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.0366/141
(ALSPAC)
T=0.0415/154
(TWINSUK)
T=0.0702/42
(NorthernSweden)
T=0.1098/550
(1000Genomes)
- HGVS:
NC_000017.11:g.75119638_75119641del, NC_000017.11:g.75119639_75119641del, NC_000017.11:g.75119640_75119641del, NC_000017.11:g.75119641del, NC_000017.11:g.75119641dup, NC_000017.11:g.75119640_75119641dup, NC_000017.10:g.73115733_73115736del, NC_000017.10:g.73115734_73115736del, NC_000017.10:g.73115735_73115736del, NC_000017.10:g.73115736del, NC_000017.10:g.73115736dup, NC_000017.10:g.73115735_73115736dup
4.
rs1491167287 has merged into rs549730217 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 17:75112584
(GRCh38)
17:73108679
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75112573:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:75112573:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:75112573:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:75112573:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:75112573:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:75112573:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:75112573:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:75112573:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:75112573:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:75112573:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:75112573:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:75112573:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:75112573:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:75112573:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:75112573:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:75112573:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:75112573:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:75112573:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:75112573:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:75112573:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:75112573:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:75112573:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:75112573:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:75112573:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:75112573:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:75112573:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:75112573:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ARMC7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
NC_000017.11:g.75112584_75112593del, NC_000017.11:g.75112585_75112593del, NC_000017.11:g.75112586_75112593del, NC_000017.11:g.75112587_75112593del, NC_000017.11:g.75112588_75112593del, NC_000017.11:g.75112589_75112593del, NC_000017.11:g.75112590_75112593del, NC_000017.11:g.75112591_75112593del, NC_000017.11:g.75112592_75112593del, NC_000017.11:g.75112593del, NC_000017.11:g.75112593dup, NC_000017.11:g.75112592_75112593dup, NC_000017.11:g.75112591_75112593dup, NC_000017.11:g.75112590_75112593dup, NC_000017.11:g.75112589_75112593dup, NC_000017.11:g.75112588_75112593dup, NC_000017.11:g.75112587_75112593dup, NC_000017.11:g.75112574_75112593T[27]CTTTTTTTTTTTTTTTTTTTTT[1], NC_000017.11:g.75112586_75112593dup, NC_000017.11:g.75112585_75112593dup, NC_000017.11:g.75112584_75112593dup, NC_000017.11:g.75112583_75112593dup, NC_000017.11:g.75112582_75112593dup, NC_000017.11:g.75112577_75112593dup, NC_000017.11:g.75112593_75112594insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.75112593_75112594insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.75112593_75112594insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.73108679_73108688del, NC_000017.10:g.73108680_73108688del, NC_000017.10:g.73108681_73108688del, NC_000017.10:g.73108682_73108688del, NC_000017.10:g.73108683_73108688del, NC_000017.10:g.73108684_73108688del, NC_000017.10:g.73108685_73108688del, NC_000017.10:g.73108686_73108688del, NC_000017.10:g.73108687_73108688del, NC_000017.10:g.73108688del, NC_000017.10:g.73108688dup, NC_000017.10:g.73108687_73108688dup, NC_000017.10:g.73108686_73108688dup, NC_000017.10:g.73108685_73108688dup, NC_000017.10:g.73108684_73108688dup, NC_000017.10:g.73108683_73108688dup, NC_000017.10:g.73108682_73108688dup, NC_000017.10:g.73108669_73108688T[27]CTTTTTTTTTTTTTTTTTTTTT[1], NC_000017.10:g.73108681_73108688dup, NC_000017.10:g.73108680_73108688dup, NC_000017.10:g.73108679_73108688dup, NC_000017.10:g.73108678_73108688dup, NC_000017.10:g.73108677_73108688dup, NC_000017.10:g.73108672_73108688dup, NC_000017.10:g.73108688_73108689insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.73108688_73108689insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.73108688_73108689insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
5.
rs1491151754 has merged into rs145302822 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 17:75120825
(GRCh38)
17:73116920
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75120813:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:75120813:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:75120813:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:75120813:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:75120813:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:75120813:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:75120813:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:75120813:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:75120813:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:75120813:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75120813:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75120813:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75120813:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75120813:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75120813:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ARMC7 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
A=0.3197/1601
(1000Genomes)
A=0.4522/246
(NorthernSweden)
- HGVS:
NC_000017.11:g.75120825_75120834del, NC_000017.11:g.75120827_75120834del, NC_000017.11:g.75120828_75120834del, NC_000017.11:g.75120829_75120834del, NC_000017.11:g.75120830_75120834del, NC_000017.11:g.75120831_75120834del, NC_000017.11:g.75120832_75120834del, NC_000017.11:g.75120833_75120834del, NC_000017.11:g.75120834del, NC_000017.11:g.75120834dup, NC_000017.11:g.75120833_75120834dup, NC_000017.11:g.75120832_75120834dup, NC_000017.11:g.75120831_75120834dup, NC_000017.11:g.75120829_75120834dup, NC_000017.11:g.75120822_75120834dup, NC_000017.10:g.73116920_73116929del, NC_000017.10:g.73116922_73116929del, NC_000017.10:g.73116923_73116929del, NC_000017.10:g.73116924_73116929del, NC_000017.10:g.73116925_73116929del, NC_000017.10:g.73116926_73116929del, NC_000017.10:g.73116927_73116929del, NC_000017.10:g.73116928_73116929del, NC_000017.10:g.73116929del, NC_000017.10:g.73116929dup, NC_000017.10:g.73116928_73116929dup, NC_000017.10:g.73116927_73116929dup, NC_000017.10:g.73116926_73116929dup, NC_000017.10:g.73116924_73116929dup, NC_000017.10:g.73116917_73116929dup
6.
rs1491054721 has merged into rs561709280 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 17:75127070
(GRCh38)
17:73123165
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:75127059:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ARMC7 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000017.11:g.75127070_75127078del, NC_000017.11:g.75127072_75127078del, NC_000017.11:g.75127074_75127078del, NC_000017.11:g.75127075_75127078del, NC_000017.11:g.75127076_75127078del, NC_000017.11:g.75127077_75127078del, NC_000017.11:g.75127078del, NC_000017.11:g.75127078dup, NC_000017.11:g.75127077_75127078dup, NC_000017.11:g.75127075_75127078dup, NC_000017.11:g.75127074_75127078dup, NC_000017.10:g.73123165_73123173del, NC_000017.10:g.73123167_73123173del, NC_000017.10:g.73123169_73123173del, NC_000017.10:g.73123170_73123173del, NC_000017.10:g.73123171_73123173del, NC_000017.10:g.73123172_73123173del, NC_000017.10:g.73123173del, NC_000017.10:g.73123173dup, NC_000017.10:g.73123172_73123173dup, NC_000017.10:g.73123170_73123173dup, NC_000017.10:g.73123169_73123173dup
7.
rs1491004372 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TCCTGGGCTCAAGT>-
[Show Flanks]
- Chromosome:
- 17:75119028
(GRCh38)
17:73115123
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75119027:TCCTGGGCTCAAGT:
- Gene:
- ARMC7 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000142/2
(
ALFA)
-=0.000042/11
(TOPMED)
-=0.000064/9
(GnomAD)
- HGVS:
8.
rs1490978502 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 17:75120750
(GRCh38)
17:73116845
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75120749:A:C,NC_000017.11:75120749:A:G
- Gene:
- ARMC7 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
G=0.005133/15
(KOREAN)
- HGVS:
9.
rs1490814214 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CATTACATAATT
[Show Flanks]
- Chromosome:
- 17:75108714
(GRCh38)
17:73104810
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75108714:ATTACATAATT:ATTACATAATTCATTACATAATT
- Gene:
- SLC16A5 (Varview), ARMC7 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATTACATAATTCATTACATAATT=0./0
(
ALFA)
ATTACATAATTC=0.000004/1
(TOPMED)
ATTACATAATTC=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490714748 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:75128974
(GRCh38)
17:73125069
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75128973:G:A
- Gene:
- ARMC7 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
11.
rs1490688902 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 17:75110510
(GRCh38)
17:73106605
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75110509:C:A
- Gene:
- SLC16A5 (Varview), ARMC7 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000017.11:g.75110510C>A, NC_000017.10:g.73106605C>A, NM_024585.4:c.139C>A, NM_024585.3:c.139C>A, NM_024585.2:c.139C>A, NM_001304271.2:c.139C>A, NM_001304271.1:c.139C>A, NM_001304273.2:c.139C>A, NM_001304273.1:c.139C>A, NM_001304272.2:c.139C>A, NM_001304272.1:c.139C>A, NP_078861.1:p.Pro47Thr, NP_001291200.1:p.Pro47Thr, NP_001291202.1:p.Pro47Thr, NP_001291201.1:p.Pro47Thr
12.
rs1490675012 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 17:75120812
(GRCh38)
17:73116907
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75120811:T:
- Gene:
- ARMC7 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00017/2
(
ALFA)
-=0.00028/8
(TOMMO)
- HGVS:
14.
rs1490421404 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:75127285
(GRCh38)
17:73123380
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75127284:T:C
- Gene:
- ARMC7 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490390747 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:75128116
(GRCh38)
17:73124211
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75128115:C:T
- Gene:
- ARMC7 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
16.
rs1490284142 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:75113203
(GRCh38)
17:73109298
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75113202:T:C
- Gene:
- ARMC7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
18.
rs1490228454 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:75113867
(GRCh38)
17:73109962
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75113866:C:T
- Gene:
- ARMC7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
20.
rs1490139282 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:75109369
(GRCh38)
17:73105464
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75109368:T:C
- Gene:
- SLC16A5 (Varview), ARMC7 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000036/5
(GnomAD)
C=0.000045/12
(TOPMED)
C=0.000156/1
(1000Genomes)
C=0.000389/7
(TOMMO)
C=0.002053/6
(KOREAN)
- HGVS: