Links from Gene
Items: 1 to 20 of 1000
1.
rs1491588794 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 20:38994643
(GRCh38)
20:37623286
(GRCh37)
- Canonical SPDI:
- NC_000020.11:38994642:CT:
- Gene:
- DHX35 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000056/7
(GnomAD)
- HGVS:
2.
rs1491551611 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 20:39039232
(GRCh38)
20:37667875
(GRCh37)
- Canonical SPDI:
- NC_000020.11:39039231:CA:
- Gene:
- DHX35 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000020.11:g.39039232_39039233del, NC_000020.10:g.37667875_37667876del, NM_021931.4:c.*689_*690del, NM_021931.3:c.*689_*690del, XM_006723848.4:c.*689_*690del, XM_006723848.3:c.*689_*690del, XM_006723848.2:c.*689_*690del, XM_006723848.1:c.*689_*690del, XM_011528972.3:c.*689_*690del, XM_011528972.2:c.*689_*690del, XM_011528972.1:c.*689_*690del, NR_033905.2:n.2845_2846del, NR_033905.1:n.2851_2852del, NM_001190809.2:c.*689_*690del, NM_001190809.1:c.*689_*690del, XM_047440354.1:c.*689_*690del
3.
rs1491536810 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 20:38997799
(GRCh38)
20:37626443
(GRCh37)
- Canonical SPDI:
- NC_000020.11:38997799:G:GG
- Gene:
- DHX35 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0.000084/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
4.
rs1491478847 has merged into rs35259351 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCCC>-,C,CC,CCC,CCCCC,CCCCCC,CCCCCCC
[Show Flanks]
- Chromosome:
- 20:38994640
(GRCh38)
20:37623283
(GRCh37)
- Canonical SPDI:
- NC_000020.11:38994631:CCCCCCCCCCCC:CCCCCCCC,NC_000020.11:38994631:CCCCCCCCCCCC:CCCCCCCCC,NC_000020.11:38994631:CCCCCCCCCCCC:CCCCCCCCCC,NC_000020.11:38994631:CCCCCCCCCCCC:CCCCCCCCCCC,NC_000020.11:38994631:CCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000020.11:38994631:CCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000020.11:38994631:CCCCCCCCCCCC:CCCCCCCCCCCCCCC
- Gene:
- DHX35 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCCCC=0./0
(
ALFA)
-=0.0163/63
(ALSPAC)
C=0.4585/2296
(1000Genomes)
- HGVS:
NC_000020.11:g.38994640_38994643del, NC_000020.11:g.38994641_38994643del, NC_000020.11:g.38994642_38994643del, NC_000020.11:g.38994643del, NC_000020.11:g.38994643dup, NC_000020.11:g.38994642_38994643dup, NC_000020.11:g.38994641_38994643dup, NC_000020.10:g.37623283_37623286del, NC_000020.10:g.37623284_37623286del, NC_000020.10:g.37623285_37623286del, NC_000020.10:g.37623286del, NC_000020.10:g.37623286dup, NC_000020.10:g.37623285_37623286dup, NC_000020.10:g.37623284_37623286dup
5.
rs1491464769 has merged into rs56980978 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 20:38986202
(GRCh38)
20:37614845
(GRCh37)
- Canonical SPDI:
- NC_000020.11:38986188:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:38986188:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:38986188:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:38986188:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:38986188:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:38986188:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
- Gene:
- DHX35 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.4187/2097
(1000Genomes)
- HGVS:
NC_000020.11:g.38986202_38986204del, NC_000020.11:g.38986203_38986204del, NC_000020.11:g.38986204del, NC_000020.11:g.38986204dup, NC_000020.11:g.38986203_38986204dup, NC_000020.11:g.38986202_38986204dup, NC_000020.10:g.37614845_37614847del, NC_000020.10:g.37614846_37614847del, NC_000020.10:g.37614847del, NC_000020.10:g.37614847dup, NC_000020.10:g.37614846_37614847dup, NC_000020.10:g.37614845_37614847dup
7.
rs1491417123 has merged into rs58084339 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 20:38985383
(GRCh38)
20:37614026
(GRCh37)
- Canonical SPDI:
- NC_000020.11:38985374:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000020.11:38985374:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000020.11:38985374:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:38985374:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:38985374:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:38985374:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:38985374:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:38985374:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:38985374:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:38985374:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:38985374:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:38985374:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:38985374:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:38985374:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- DHX35 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
-=0.2326/1165
(1000Genomes)
- HGVS:
NC_000020.11:g.38985383_38985395del, NC_000020.11:g.38985384_38985395del, NC_000020.11:g.38985385_38985395del, NC_000020.11:g.38985386_38985395del, NC_000020.11:g.38985391_38985395del, NC_000020.11:g.38985392_38985395del, NC_000020.11:g.38985393_38985395del, NC_000020.11:g.38985394_38985395del, NC_000020.11:g.38985395del, NC_000020.11:g.38985395dup, NC_000020.11:g.38985394_38985395dup, NC_000020.11:g.38985393_38985395dup, NC_000020.11:g.38985392_38985395dup, NC_000020.11:g.38985391_38985395dup, NC_000020.10:g.37614026_37614038del, NC_000020.10:g.37614027_37614038del, NC_000020.10:g.37614028_37614038del, NC_000020.10:g.37614029_37614038del, NC_000020.10:g.37614034_37614038del, NC_000020.10:g.37614035_37614038del, NC_000020.10:g.37614036_37614038del, NC_000020.10:g.37614037_37614038del, NC_000020.10:g.37614038del, NC_000020.10:g.37614038dup, NC_000020.10:g.37614037_37614038dup, NC_000020.10:g.37614036_37614038dup, NC_000020.10:g.37614035_37614038dup, NC_000020.10:g.37614034_37614038dup
9.
rs1491333854 has merged into rs60032935 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 20:39036736
(GRCh38)
20:37665379
(GRCh37)
- Canonical SPDI:
- NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- DHX35 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.01326/7
(NorthernSweden)
- HGVS:
NC_000020.11:g.39036736_39036752del, NC_000020.11:g.39036738_39036752del, NC_000020.11:g.39036739_39036752del, NC_000020.11:g.39036741_39036752del, NC_000020.11:g.39036742_39036752del, NC_000020.11:g.39036743_39036752del, NC_000020.11:g.39036744_39036752del, NC_000020.11:g.39036745_39036752del, NC_000020.11:g.39036746_39036752del, NC_000020.11:g.39036747_39036752del, NC_000020.11:g.39036748_39036752del, NC_000020.11:g.39036749_39036752del, NC_000020.11:g.39036750_39036752del, NC_000020.11:g.39036751_39036752del, NC_000020.11:g.39036752del, NC_000020.11:g.39036752dup, NC_000020.11:g.39036751_39036752dup, NC_000020.11:g.39036750_39036752dup, NC_000020.11:g.39036749_39036752dup, NC_000020.11:g.39036748_39036752dup, NC_000020.11:g.39036747_39036752dup, NC_000020.11:g.39036746_39036752dup, NC_000020.11:g.39036745_39036752dup, NC_000020.11:g.39036742_39036752dup, NC_000020.11:g.39036731_39036752dup, NC_000020.11:g.39036752_39036753insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.37665379_37665395del, NC_000020.10:g.37665381_37665395del, NC_000020.10:g.37665382_37665395del, NC_000020.10:g.37665384_37665395del, NC_000020.10:g.37665385_37665395del, NC_000020.10:g.37665386_37665395del, NC_000020.10:g.37665387_37665395del, NC_000020.10:g.37665388_37665395del, NC_000020.10:g.37665389_37665395del, NC_000020.10:g.37665390_37665395del, NC_000020.10:g.37665391_37665395del, NC_000020.10:g.37665392_37665395del, NC_000020.10:g.37665393_37665395del, NC_000020.10:g.37665394_37665395del, NC_000020.10:g.37665395del, NC_000020.10:g.37665395dup, NC_000020.10:g.37665394_37665395dup, NC_000020.10:g.37665393_37665395dup, NC_000020.10:g.37665392_37665395dup, NC_000020.10:g.37665391_37665395dup, NC_000020.10:g.37665390_37665395dup, NC_000020.10:g.37665389_37665395dup, NC_000020.10:g.37665388_37665395dup, NC_000020.10:g.37665385_37665395dup, NC_000020.10:g.37665374_37665395dup, NC_000020.10:g.37665395_37665396insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
10.
rs1491254045 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 20:39039232
(GRCh38)
20:37667876
(GRCh37)
- Canonical SPDI:
- NC_000020.11:39039232:A:AA
- Gene:
- DHX35 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
NC_000020.11:g.39039233dup, NC_000020.10:g.37667876dup, NM_021931.4:c.*690dup, NM_021931.3:c.*690dup, XM_006723848.4:c.*690dup, XM_006723848.3:c.*690dup, XM_006723848.2:c.*690dup, XM_006723848.1:c.*690dup, XM_011528972.3:c.*690dup, XM_011528972.2:c.*690dup, XM_011528972.1:c.*690dup, NR_033905.2:n.2846dup, NR_033905.1:n.2852dup, NM_001190809.2:c.*690dup, NM_001190809.1:c.*690dup, XM_047440354.1:c.*690dup
11.
rs1491162797 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T
[Show Flanks]
- Chromosome:
- 20:38997048
(GRCh38)
20:37625691
(GRCh37)
- Canonical SPDI:
- NC_000020.11:38997045:TTTT:TT,NC_000020.11:38997045:TTTT:TTT
- Gene:
- DHX35 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTT=0./0
(
ALFA)
-=0.000037/5
(GnomAD)
- HGVS:
12.
rs1491134745 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 20:38985374
(GRCh38)
20:37614017
(GRCh37)
- Canonical SPDI:
- NC_000020.11:38985373:CA:
- Gene:
- DHX35 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000253/3
(
ALFA)
-=0.000059/6
(GnomAD)
- HGVS:
13.
rs1491114882 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 20:38997801
(GRCh38)
20:37626444
(GRCh37)
- Canonical SPDI:
- NC_000020.11:38997798:AGAG:AG
- Gene:
- DHX35 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAG=0.000071/1
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
14.
rs1491090663 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CG
[Show Flanks]
- Chromosome:
- 20:38985574
(GRCh38)
20:37614218
(GRCh37)
- Canonical SPDI:
- NC_000020.11:38985574:G:GCG
- Gene:
- DHX35 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCG=0.000071/1
(
ALFA)
GC=0.000079/11
(GnomAD)
GC=0.000136/36
(TOPMED)
GC=0.000283/5
(TOMMO)
GC=0.001638/3
(Korea1K)
- HGVS:
15.
rs1491025563 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 20:39034607
(GRCh38)
20:37663250
(GRCh37)
- Canonical SPDI:
- NC_000020.11:39034606:TG:
- Gene:
- DHX35 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000062/1
(
ALFA)
-=0.000142/16
(GnomAD)
- HGVS:
16.
rs1490956717 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 20:39017761
(GRCh38)
20:37646404
(GRCh37)
- Canonical SPDI:
- NC_000020.11:39017760:C:A,NC_000020.11:39017760:C:T
- Gene:
- DHX35 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
A=0.000035/1
(TOMMO)
- HGVS:
17.
rs1490912188 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:38962559
(GRCh38)
20:37591202
(GRCh37)
- Canonical SPDI:
- NC_000020.11:38962558:G:A
- Gene:
- DHX35 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
18.
rs1490910702 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:39018871
(GRCh38)
20:37647514
(GRCh37)
- Canonical SPDI:
- NC_000020.11:39018870:C:T
- Gene:
- DHX35 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_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_000020.11:g.39018871C>T, NC_000020.10:g.37647514C>T, NM_021931.4:c.1470C>T, NM_021931.3:c.1470C>T, XM_006723848.4:c.288C>T, XM_006723848.3:c.288C>T, XM_006723848.2:c.288C>T, XM_006723848.1:c.288C>T, XM_011528972.3:c.1470C>T, XM_011528972.2:c.1470C>T, XM_011528972.1:c.1470C>T, NR_033905.2:n.1514C>T, NR_033905.1:n.1520C>T, NM_001190809.2:c.1377C>T, NM_001190809.1:c.1377C>T, XM_011528974.2:c.*44C>T, XM_011528974.1:c.*44C>T, XM_047440354.1:c.1377C>T, XR_007067474.1:n.1494C>T, XR_007067475.1:n.1562C>T
19.
rs1490876229 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 20:39014559
(GRCh38)
20:37643202
(GRCh37)
- Canonical SPDI:
- NC_000020.11:39014558:T:A
- Gene:
- DHX35 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1490831123 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:38979705
(GRCh38)
20:37608348
(GRCh37)
- Canonical SPDI:
- NC_000020.11:38979704:G:A
- Gene:
- DHX35 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS: