Links from Nucleotide
Items: 1 to 20 of 14128
1.
rs1491543136 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 19:21187457
(GRCh38)
19:21370260
(GRCh37)
- Canonical SPDI:
- NC_000019.10:21187454:AGAG:AG
- Gene:
- ZNF431 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAG=0./0
(
ALFA)
-=0.01278/207
(TOMMO)
-=0.14853/2747
(GnomAD)
- HGVS:
NC_000019.10:g.21187455AG[1], NC_000019.9:g.21370258AG[1], NG_051229.1:g.50447AG[1], NM_133473.4:c.*3421AG[1], NM_001319127.2:c.*3421AG[1], NM_001319126.2:c.*3421AG[1], NM_001319124.2:c.*3421AG[1], XR_001753620.2:n.4008AG[1], XR_001753620.1:n.4039AG[1], XR_007066664.1:n.4011AG[1], XR_007066667.1:n.3891AG[1], XR_007066669.1:n.3888AG[1]
3.
rs1491312184 has merged into rs550012306 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,T,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:21171727
(GRCh38)
19:21354530
(GRCh37)
- Canonical SPDI:
- NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZNF431 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000019.10:g.21171727_21171739del, NC_000019.10:g.21171728_21171739del, NC_000019.10:g.21171732_21171739del, NC_000019.10:g.21171733_21171739del, NC_000019.10:g.21171734_21171739del, NC_000019.10:g.21171735_21171739del, NC_000019.10:g.21171736_21171739del, NC_000019.10:g.21171737_21171739del, NC_000019.10:g.21171738_21171739del, NC_000019.10:g.21171739del, NC_000019.10:g.21171739dup, NC_000019.10:g.21171738_21171739dup, NC_000019.10:g.21171737_21171739dup, NC_000019.10:g.21171736_21171739dup, NC_000019.10:g.21171734_21171739dup, NC_000019.10:g.21171733_21171739dup, NC_000019.10:g.21171732_21171739dup, NC_000019.9:g.21354530_21354542del, NC_000019.9:g.21354531_21354542del, NC_000019.9:g.21354535_21354542del, NC_000019.9:g.21354536_21354542del, NC_000019.9:g.21354537_21354542del, NC_000019.9:g.21354538_21354542del, NC_000019.9:g.21354539_21354542del, NC_000019.9:g.21354540_21354542del, NC_000019.9:g.21354541_21354542del, NC_000019.9:g.21354542del, NC_000019.9:g.21354542dup, NC_000019.9:g.21354541_21354542dup, NC_000019.9:g.21354540_21354542dup, NC_000019.9:g.21354539_21354542dup, NC_000019.9:g.21354537_21354542dup, NC_000019.9:g.21354536_21354542dup, NC_000019.9:g.21354535_21354542dup, NG_051229.1:g.34719_34731del, NG_051229.1:g.34720_34731del, NG_051229.1:g.34724_34731del, NG_051229.1:g.34725_34731del, NG_051229.1:g.34726_34731del, NG_051229.1:g.34727_34731del, NG_051229.1:g.34728_34731del, NG_051229.1:g.34729_34731del, NG_051229.1:g.34730_34731del, NG_051229.1:g.34731del, NG_051229.1:g.34731dup, NG_051229.1:g.34730_34731dup, NG_051229.1:g.34729_34731dup, NG_051229.1:g.34728_34731dup, NG_051229.1:g.34726_34731dup, NG_051229.1:g.34725_34731dup, NG_051229.1:g.34724_34731dup
4.
rs1491042591 has merged into rs112684254 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:21157859
(GRCh38)
19:21340662
(GRCh37)
- Canonical SPDI:
- NC_000019.10:21157848:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:21157848:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:21157848:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:21157848:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:21157848:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:21157848:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:21157848:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:21157848:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZNF431 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
NC_000019.10:g.21157859_21157864del, NC_000019.10:g.21157862_21157864del, NC_000019.10:g.21157863_21157864del, NC_000019.10:g.21157864del, NC_000019.10:g.21157864dup, NC_000019.10:g.21157863_21157864dup, NC_000019.10:g.21157862_21157864dup, NC_000019.10:g.21157853_21157864dup, NC_000019.9:g.21340662_21340667del, NC_000019.9:g.21340665_21340667del, NC_000019.9:g.21340666_21340667del, NC_000019.9:g.21340667del, NC_000019.9:g.21340667dup, NC_000019.9:g.21340666_21340667dup, NC_000019.9:g.21340665_21340667dup, NC_000019.9:g.21340656_21340667dup, NG_051229.1:g.20851_20856del, NG_051229.1:g.20854_20856del, NG_051229.1:g.20855_20856del, NG_051229.1:g.20856del, NG_051229.1:g.20856dup, NG_051229.1:g.20855_20856dup, NG_051229.1:g.20854_20856dup, NG_051229.1:g.20845_20856dup
5.
rs1491029955 has merged into rs34934773 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:21164092
(GRCh38)
19:21346895
(GRCh37)
- Canonical SPDI:
- NC_000019.10:21164079:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:21164079:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:21164079:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:21164079:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:21164079:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:21164079:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:21164079:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:21164079:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:21164079:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
- Gene:
- ZNF431 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.3375/1690
(1000Genomes)
- HGVS:
NC_000019.10:g.21164092_21164095del, NC_000019.10:g.21164093_21164095del, NC_000019.10:g.21164094_21164095del, NC_000019.10:g.21164095del, NC_000019.10:g.21164095dup, NC_000019.10:g.21164094_21164095dup, NC_000019.10:g.21164093_21164095dup, NC_000019.10:g.21164092_21164095dup, NC_000019.10:g.21164091_21164095dup, NC_000019.9:g.21346895_21346898del, NC_000019.9:g.21346896_21346898del, NC_000019.9:g.21346897_21346898del, NC_000019.9:g.21346898del, NC_000019.9:g.21346898dup, NC_000019.9:g.21346897_21346898dup, NC_000019.9:g.21346896_21346898dup, NC_000019.9:g.21346895_21346898dup, NC_000019.9:g.21346894_21346898dup, NG_051229.1:g.27084_27087del, NG_051229.1:g.27085_27087del, NG_051229.1:g.27086_27087del, NG_051229.1:g.27087del, NG_051229.1:g.27087dup, NG_051229.1:g.27086_27087dup, NG_051229.1:g.27085_27087dup, NG_051229.1:g.27084_27087dup, NG_051229.1:g.27083_27087dup
6.
rs1491016303 has merged into rs749424799 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 19:21162156
(GRCh38)
19:21344959
(GRCh37)
- Canonical SPDI:
- NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- ZNF431 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGTGTGTGT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.078879/304
(ALSPAC)
- HGVS:
NC_000019.10:g.21162146GT[5], NC_000019.10:g.21162146GT[11], NC_000019.10:g.21162146GT[12], NC_000019.10:g.21162146GT[13], NC_000019.10:g.21162146GT[14], NC_000019.10:g.21162146GT[15], NC_000019.10:g.21162146GT[16], NC_000019.10:g.21162146GT[17], NC_000019.10:g.21162146GT[18], NC_000019.10:g.21162146GT[19], NC_000019.10:g.21162146GT[21], NC_000019.10:g.21162146GT[22], NC_000019.10:g.21162146GT[23], NC_000019.10:g.21162146GT[24], NC_000019.10:g.21162146GT[25], NC_000019.10:g.21162146GT[26], NC_000019.10:g.21162146GT[28], NC_000019.9:g.21344949GT[5], NC_000019.9:g.21344949GT[11], NC_000019.9:g.21344949GT[12], NC_000019.9:g.21344949GT[13], NC_000019.9:g.21344949GT[14], NC_000019.9:g.21344949GT[15], NC_000019.9:g.21344949GT[16], NC_000019.9:g.21344949GT[17], NC_000019.9:g.21344949GT[18], NC_000019.9:g.21344949GT[19], NC_000019.9:g.21344949GT[21], NC_000019.9:g.21344949GT[22], NC_000019.9:g.21344949GT[23], NC_000019.9:g.21344949GT[24], NC_000019.9:g.21344949GT[25], NC_000019.9:g.21344949GT[26], NC_000019.9:g.21344949GT[28], NG_051229.1:g.25138GT[5], NG_051229.1:g.25138GT[11], NG_051229.1:g.25138GT[12], NG_051229.1:g.25138GT[13], NG_051229.1:g.25138GT[14], NG_051229.1:g.25138GT[15], NG_051229.1:g.25138GT[16], NG_051229.1:g.25138GT[17], NG_051229.1:g.25138GT[18], NG_051229.1:g.25138GT[19], NG_051229.1:g.25138GT[21], NG_051229.1:g.25138GT[22], NG_051229.1:g.25138GT[23], NG_051229.1:g.25138GT[24], NG_051229.1:g.25138GT[25], NG_051229.1:g.25138GT[26], NG_051229.1:g.25138GT[28]
7.
rs1490929020 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:21180043
(GRCh38)
19:21362846
(GRCh37)
- Canonical SPDI:
- NC_000019.10:21180042:A:G
- Gene:
- ZNF431 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
8.
rs1490758566 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 19:21173228
(GRCh38)
19:21356031
(GRCh37)
- Canonical SPDI:
- NC_000019.10:21173227:G:C
- Gene:
- ZNF431 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
9.
rs1490734598 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCT>-
[Show Flanks]
- Chromosome:
- 19:21178016
(GRCh38)
19:21360819
(GRCh37)
- Canonical SPDI:
- NC_000019.10:21178013:CTCCT:CT
- Gene:
- ZNF431 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CT=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490659706 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:21161201
(GRCh38)
19:21344004
(GRCh37)
- Canonical SPDI:
- NC_000019.10:21161200:A:G
- Gene:
- ZNF431 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
11.
rs1490644656 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:21163318
(GRCh38)
19:21346121
(GRCh37)
- Canonical SPDI:
- NC_000019.10:21163317:A:G
- Gene:
- ZNF431 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
12.
rs1490543405 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 19:21143026
(GRCh38)
19:21325830
(GRCh37)
- Canonical SPDI:
- NC_000019.10:21143026:AA:AAA
- Gene:
- ZNF431 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAA=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
13.
rs1490516251 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 19:21157241
(GRCh38)
19:21340044
(GRCh37)
- Canonical SPDI:
- NC_000019.10:21157240:A:T
- Gene:
- ZNF431 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00006/1
(
ALFA)
T=0.00018/5
(TOMMO)
T=0.00022/1
(Estonian)
- HGVS:
14.
rs1490497321 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:21180455
(GRCh38)
19:21363258
(GRCh37)
- Canonical SPDI:
- NC_000019.10:21180454:G:A
- Gene:
- ZNF431 (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:
15.
rs1490392235 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:21194142
(GRCh38)
19:21376945
(GRCh37)
- Canonical SPDI:
- NC_000019.10:21194141:A:G
- Gene:
- ZNF431 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
NC_000019.10:g.21194142A>G, NC_000019.9:g.21376945A>G, NG_051229.1:g.57134A>G, NM_133473.4:c.*10108A>G, NM_001319127.2:c.*10108A>G, NM_001319126.2:c.*10108A>G, NM_001319124.2:c.*10108A>G, NR_138052.2:n.6786A>G, NR_138052.1:n.6816A>G, NR_138053.2:n.6719A>G, NR_138053.1:n.6749A>G
16.
rs1490358888 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 19:21179432
(GRCh38)
19:21362235
(GRCh37)
- Canonical SPDI:
- NC_000019.10:21179431:T:A
- Gene:
- ZNF431 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
17.
rs1490348921 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 19:21159077
(GRCh38)
19:21341880
(GRCh37)
- Canonical SPDI:
- NC_000019.10:21159076:G:A,NC_000019.10:21159076:G:T
- Gene:
- ZNF431 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
18.
rs1490311731 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 19:21165519
(GRCh38)
19:21348322
(GRCh37)
- Canonical SPDI:
- NC_000019.10:21165518:G:
- Gene:
- ZNF431 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
19.
rs1490207939 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 19:21143982
(GRCh38)
19:21326785
(GRCh37)
- Canonical SPDI:
- NC_000019.10:21143981:C:G
- Gene:
- ZNF431 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
20.
rs1490143282 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:21150376
(GRCh38)
19:21333179
(GRCh37)
- Canonical SPDI:
- NC_000019.10:21150375:C:T
- Gene:
- ZNF431 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000162/3
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS: