Links from Gene
Items: 1 to 20 of 1000
1.
rs1491556113 has merged into rs755649009 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTT>-,TTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:37209728
(GRCh38)
19:37700630
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37209723:TTTTTTTTTTTTTTTTTTTT:TTTT,NC_000019.10:37209723:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:37209723:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:37209723:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:37209723:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:37209723:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:37209723:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:37209723:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:37209723:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:37209723:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:37209723:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:37209723:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:37209723:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:37209723:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:37209723:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:37209723:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:37209723:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:37209723:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:37209723:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZNF585B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000019.10:g.37209728_37209743del, NC_000019.10:g.37209733_37209743del, NC_000019.10:g.37209736_37209743del, NC_000019.10:g.37209737_37209743del, NC_000019.10:g.37209738_37209743del, NC_000019.10:g.37209740_37209743del, NC_000019.10:g.37209741_37209743del, NC_000019.10:g.37209742_37209743del, NC_000019.10:g.37209743del, NC_000019.10:g.37209743dup, NC_000019.10:g.37209742_37209743dup, NC_000019.10:g.37209741_37209743dup, NC_000019.10:g.37209740_37209743dup, NC_000019.10:g.37209739_37209743dup, NC_000019.10:g.37209738_37209743dup, NC_000019.10:g.37209737_37209743dup, NC_000019.10:g.37209736_37209743dup, NC_000019.10:g.37209733_37209743dup, NC_000019.10:g.37209730_37209743dup, NC_000019.9:g.37700630_37700645del, NC_000019.9:g.37700635_37700645del, NC_000019.9:g.37700638_37700645del, NC_000019.9:g.37700639_37700645del, NC_000019.9:g.37700640_37700645del, NC_000019.9:g.37700642_37700645del, NC_000019.9:g.37700643_37700645del, NC_000019.9:g.37700644_37700645del, NC_000019.9:g.37700645del, NC_000019.9:g.37700645dup, NC_000019.9:g.37700644_37700645dup, NC_000019.9:g.37700643_37700645dup, NC_000019.9:g.37700642_37700645dup, NC_000019.9:g.37700641_37700645dup, NC_000019.9:g.37700640_37700645dup, NC_000019.9:g.37700639_37700645dup, NC_000019.9:g.37700638_37700645dup, NC_000019.9:g.37700635_37700645dup, NC_000019.9:g.37700632_37700645dup
2.
rs1491465499 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-,GAGA
[Show Flanks]
- Chromosome:
- 19:37184392
(GRCh38)
19:37675294
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37184390:AGA:A,NC_000019.10:37184390:AGA:AGAGA
- Gene:
- ZNF585B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.02223/182
(
ALFA)
-=0.04756/762
(TOMMO)
-=0.16552/96
(NorthernSweden)
-=0.16759/8867
(GnomAD)
-=0.29504/1094
(TWINSUK)
-=0.33913/1307
(ALSPAC)
- HGVS:
3.
rs1491358310 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 19:37184448
(GRCh38)
19:37675350
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37184446:AGA:A
- Gene:
- ZNF585B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.00027/14
(GnomAD)
-=0.00267/38
(TOMMO)
- HGVS:
4.
rs1491195962 has merged into rs35092477 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAGAAAGAAAGAAAGAAAGAAAGAAAGA>-,AAGA,AAGAAAGA,AAGAAAGAAAGA,AAGAAAGAAAGAAAGA,AAGAAAGAAAGAAAGAAAGA,AAGAAAGAAAGAAAGAAAGAAAGA,AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA
[Show Flanks]
- Chromosome:
- 19:37184478
(GRCh38)
19:37675380
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37184443:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,NC_000019.10:37184443:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,NC_000019.10:37184443:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,NC_000019.10:37184443:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,NC_000019.10:37184443:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,NC_000019.10:37184443:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,NC_000019.10:37184443:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,NC_000019.10:37184443:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,NC_000019.10:37184443:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,NC_000019.10:37184443:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,NC_000019.10:37184443:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA,NC_000019.10:37184443:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA
- Gene:
- ZNF585B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA=0./0
(
ALFA)
GAAA=0.375/3
(KOREAN)
- HGVS:
NC_000019.10:g.37184446AAGA[8], NC_000019.10:g.37184446AAGA[9], NC_000019.10:g.37184446AAGA[10], NC_000019.10:g.37184446AAGA[11], NC_000019.10:g.37184446AAGA[12], NC_000019.10:g.37184446AAGA[13], NC_000019.10:g.37184446AAGA[14], NC_000019.10:g.37184446AAGA[16], NC_000019.10:g.37184446AAGA[17], NC_000019.10:g.37184446AAGA[18], NC_000019.10:g.37184446AAGA[19], NC_000019.10:g.37184446AAGA[20], NC_000019.9:g.37675348AAGA[8], NC_000019.9:g.37675348AAGA[9], NC_000019.9:g.37675348AAGA[10], NC_000019.9:g.37675348AAGA[11], NC_000019.9:g.37675348AAGA[12], NC_000019.9:g.37675348AAGA[13], NC_000019.9:g.37675348AAGA[14], NC_000019.9:g.37675348AAGA[16], NC_000019.9:g.37675348AAGA[17], NC_000019.9:g.37675348AAGA[18], NC_000019.9:g.37675348AAGA[19], NC_000019.9:g.37675348AAGA[20], NM_152279.4:c.*724TTTC[8], NM_152279.4:c.*724TTTC[9], NM_152279.4:c.*724TTTC[10], NM_152279.4:c.*724TTTC[11], NM_152279.4:c.*724TTTC[12], NM_152279.4:c.*724TTTC[13], NM_152279.4:c.*724TTTC[14], NM_152279.4:c.*724TTTC[16], NM_152279.4:c.*724TTTC[17], NM_152279.4:c.*724TTTC[18], NM_152279.4:c.*724TTTC[19], NM_152279.4:c.*724TTTC[20], NM_152279.3:c.*724TTTC[8], NM_152279.3:c.*724TTTC[9], NM_152279.3:c.*724TTTC[10], NM_152279.3:c.*724TTTC[11], NM_152279.3:c.*724TTTC[12], NM_152279.3:c.*724TTTC[13], NM_152279.3:c.*724TTTC[14], NM_152279.3:c.*724TTTC[16], NM_152279.3:c.*724TTTC[17], NM_152279.3:c.*724TTTC[18], NM_152279.3:c.*724TTTC[19], NM_152279.3:c.*724TTTC[20]
6.
rs1491180213 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GG>-
[Show Flanks]
- Chromosome:
- 19:37184443
(GRCh38)
19:37675345
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37184442:GG:
- Gene:
- ZNF585B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.06288/3295
(GnomAD)
-=0.23389/3661
(TOMMO)
- HGVS:
7.
rs1491109967 has merged into rs1183920660 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 19:37184400
(GRCh38)
19:37675302
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37184398:AGA:A
- Gene:
- ZNF585B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00438/52
(
ALFA)
-=0.00727/13
(Korea1K)
-=0.00759/120
(TOMMO)
-=0.00829/428
(GnomAD)
- HGVS:
8.
rs1491081079 has merged into rs35315978 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,A,AA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:37181707
(GRCh38)
19:37672609
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37181696:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:37181696:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:37181696:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:37181696:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:37181696:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:37181696:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:37181696:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:37181696:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ZNF585B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000019.10:g.37181707_37181712del, NC_000019.10:g.37181708_37181712del, NC_000019.10:g.37181709_37181712del, NC_000019.10:g.37181711_37181712del, NC_000019.10:g.37181712del, NC_000019.10:g.37181712dup, NC_000019.10:g.37181711_37181712dup, NC_000019.10:g.37181706_37181712dup, NC_000019.9:g.37672609_37672614del, NC_000019.9:g.37672610_37672614del, NC_000019.9:g.37672611_37672614del, NC_000019.9:g.37672613_37672614del, NC_000019.9:g.37672614del, NC_000019.9:g.37672614dup, NC_000019.9:g.37672613_37672614dup, NC_000019.9:g.37672608_37672614dup, NM_152279.4:c.*3525_*3530del, NM_152279.4:c.*3526_*3530del, NM_152279.4:c.*3527_*3530del, NM_152279.4:c.*3529_*3530del, NM_152279.4:c.*3530del, NM_152279.4:c.*3530dup, NM_152279.4:c.*3529_*3530dup, NM_152279.4:c.*3524_*3530dup, NM_152279.3:c.*3525_*3530del, NM_152279.3:c.*3526_*3530del, NM_152279.3:c.*3527_*3530del, NM_152279.3:c.*3529_*3530del, NM_152279.3:c.*3530del, NM_152279.3:c.*3530dup, NM_152279.3:c.*3529_*3530dup, NM_152279.3:c.*3524_*3530dup
9.
rs1491073612 has merged into rs35187925 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA,AAAAA
[Show Flanks]
- Chromosome:
- 19:37208603
(GRCh38)
19:37699505
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37208593:AAAAAAAAAAA:AAAAAAAAA,NC_000019.10:37208593:AAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:37208593:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:37208593:AAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:37208593:AAAAAAAAAAA:AAAAAAAAAAAAAA
- Gene:
- ZNF585B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.3/12
(GENOME_DK)
A=0.4204/1988
(1000Genomes)
-=0.4222/1627
(ALSPAC)
-=0.4466/1656
(TWINSUK)
- HGVS:
10.
rs1491040364 has merged into rs774434228 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,AAA,AAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 19:37184494
(GRCh38)
19:37675396
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37184492:AAA:A,NC_000019.10:37184492:AAA:AAAA,NC_000019.10:37184492:AAA:AAAAA,NC_000019.10:37184492:AAA:AAAAAAA
- Gene:
- ZNF585B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAA=0./0
(
ALFA)
-=0.00072/12
(TOMMO)
- HGVS:
NC_000019.10:g.37184494_37184495del, NC_000019.10:g.37184495dup, NC_000019.10:g.37184494_37184495dup, NC_000019.10:g.37184495_37184496insAAAA, NC_000019.9:g.37675396_37675397del, NC_000019.9:g.37675397dup, NC_000019.9:g.37675396_37675397dup, NC_000019.9:g.37675397_37675398insAAAA, NM_152279.4:c.*733_*734del, NM_152279.4:c.*734dup, NM_152279.4:c.*733_*734dup, NM_152279.4:c.*734_*735insTTTT, NM_152279.3:c.*733_*734del, NM_152279.3:c.*734dup, NM_152279.3:c.*733_*734dup, NM_152279.3:c.*734_*735insTTTT
11.
rs1490969534 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 19:37186256
(GRCh38)
19:37677158
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37186255:T:G
- Gene:
- ZNF585B (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
12.
rs1490951749 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 19:37198976
(GRCh38)
19:37689878
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37198974:ACA:A
- Gene:
- ZNF585B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
-=0.000008/1
(GnomAD_exomes)
- HGVS:
13.
rs1490915799 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:37187013
(GRCh38)
19:37677915
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37187012:G:A
- Gene:
- ZNF585B (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
14.
rs1490785898 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:37197993
(GRCh38)
19:37688895
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37197992:A:G
- Gene:
- ZNF585B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
15.
rs1490782935 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 19:37212534
(GRCh38)
19:37703436
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37212533:A:T
- Gene:
- ZNF585B (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00084/10
(
ALFA)
T=0.01061/31
(KOREAN)
T=0.01092/182
(TOMMO)
- HGVS:
16.
rs1490778110 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:37195528
(GRCh38)
19:37686430
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37195527:A:G
- Gene:
- ZNF585B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
17.
rs1490736045 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:37194526
(GRCh38)
19:37685428
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37194525:T:C
- Gene:
- ZNF585B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
18.
rs1490586510 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:37193005
(GRCh38)
19:37683907
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37193004:C:T
- Gene:
- ZNF585B (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:
19.
rs1490571551 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 19:37193953
(GRCh38)
19:37684855
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37193952:G:T
- Gene:
- ZNF585B (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:
20.
rs1490492528 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 19:37209863
(GRCh38)
19:37700765
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37209862:C:A
- Gene:
- ZNF585B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS: