Links from Gene
Items: 1 to 20 of 1000
1.
rs1491558991 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CC>-
[Show Flanks]
- Chromosome:
- 6:2961762
(GRCh38)
6:2961996
(GRCh37)
- Canonical SPDI:
- NC_000006.12:2961761:CC:
- Gene:
- SERPINB6 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.0005/2
(
ALFA)
-=0.0005/2
(Estonian)
- HGVS:
2.
rs1491492952 has merged into rs74478488 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:2974166
(GRCh38)
6:2974400
(GRCh37)
- Canonical SPDI:
- NC_000006.12:2974163:TTTTTTTTT:TT,NC_000006.12:2974163:TTTTTTTTT:TTTTTT,NC_000006.12:2974163:TTTTTTTTT:TTTTTTT,NC_000006.12:2974163:TTTTTTTTT:TTTTTTTT,NC_000006.12:2974163:TTTTTTTTT:TTTTTTTTTT,NC_000006.12:2974163:TTTTTTTTT:TTTTTTTTTTT
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
T=0.000495/8
(TOMMO)
-=0.007025/35
(1000Genomes)
-=0.008784/2325
(TOPMED)
T=0.01002/10
(GoNL)
T=0.011706/7
(NorthernSweden)
T=0.024363/109
(Estonian)
T=0.02589/96
(TWINSUK)
T=0.027763/107
(ALSPAC)
- HGVS:
NC_000006.12:g.2974166_2974172del, NC_000006.12:g.2974170_2974172del, NC_000006.12:g.2974171_2974172del, NC_000006.12:g.2974172del, NC_000006.12:g.2974172dup, NC_000006.12:g.2974171_2974172dup, NC_000006.11:g.2974400_2974406del, NC_000006.11:g.2974404_2974406del, NC_000006.11:g.2974405_2974406del, NC_000006.11:g.2974406del, NC_000006.11:g.2974406dup, NC_000006.11:g.2974405_2974406dup, NG_027692.1:g.2996_3002del, NG_027692.1:g.3000_3002del, NG_027692.1:g.3001_3002del, NG_027692.1:g.3002del, NG_027692.1:g.3002dup, NG_027692.1:g.3001_3002dup
3.
rs1491324947 has merged into rs5873848 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:2950546
(GRCh38)
6:2950780
(GRCh37)
- Canonical SPDI:
- NC_000006.12:2950532:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:2950532:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:2950532:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:2950532:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:2950532:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:2950532:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:2950532:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:2950532:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:2950532:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:2950532:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:2950532:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SERPINB6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.0332/123
(TWINSUK)
A=0.0361/139
(ALSPAC)
A=0.3113/1559
(1000Genomes)
A=0.4/16
(GENOME_DK)
- HGVS:
NC_000006.12:g.2950546_2950549del, NC_000006.12:g.2950547_2950549del, NC_000006.12:g.2950548_2950549del, NC_000006.12:g.2950549del, NC_000006.12:g.2950549dup, NC_000006.12:g.2950548_2950549dup, NC_000006.12:g.2950546_2950549dup, NC_000006.12:g.2950543_2950549dup, NC_000006.12:g.2950538_2950549dup, NC_000006.12:g.2950537_2950549dup, NC_000006.12:g.2950533_2950549dup, NC_000006.11:g.2950780_2950783del, NC_000006.11:g.2950781_2950783del, NC_000006.11:g.2950782_2950783del, NC_000006.11:g.2950783del, NC_000006.11:g.2950783dup, NC_000006.11:g.2950782_2950783dup, NC_000006.11:g.2950780_2950783dup, NC_000006.11:g.2950777_2950783dup, NC_000006.11:g.2950772_2950783dup, NC_000006.11:g.2950771_2950783dup, NC_000006.11:g.2950767_2950783dup, NG_027692.1:g.26630_26633del, NG_027692.1:g.26631_26633del, NG_027692.1:g.26632_26633del, NG_027692.1:g.26633del, NG_027692.1:g.26633dup, NG_027692.1:g.26632_26633dup, NG_027692.1:g.26630_26633dup, NG_027692.1:g.26627_26633dup, NG_027692.1:g.26622_26633dup, NG_027692.1:g.26621_26633dup, NG_027692.1:g.26617_26633dup
4.
rs1491137271 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 6:2961762
(GRCh38)
6:2961997
(GRCh37)
- Canonical SPDI:
- NC_000006.12:2961762::A
- Gene:
- SERPINB6 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.00046/2
(Estonian)
- HGVS:
5.
rs1491075698 has merged into rs70995402 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:2970733
(GRCh38)
6:2970967
(GRCh37)
- Canonical SPDI:
- NC_000006.12:2970724:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000006.12:2970724:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000006.12:2970724:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:2970724:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:2970724:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:2970724:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:2970724:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:2970724:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:2970724:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:2970724:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:2970724:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:2970724:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:2970724:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:2970724:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:2970724:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:2970724:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:2970724:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:2970724:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:2970724:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:2970724:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SERPINB6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Clinical significance:
- benign,likely-benign
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000006.12:g.2970733_2970744del, NC_000006.12:g.2970734_2970744del, NC_000006.12:g.2970735_2970744del, NC_000006.12:g.2970736_2970744del, NC_000006.12:g.2970737_2970744del, NC_000006.12:g.2970738_2970744del, NC_000006.12:g.2970739_2970744del, NC_000006.12:g.2970740_2970744del, NC_000006.12:g.2970741_2970744del, NC_000006.12:g.2970742_2970744del, NC_000006.12:g.2970743_2970744del, NC_000006.12:g.2970744del, NC_000006.12:g.2970744dup, NC_000006.12:g.2970743_2970744dup, NC_000006.12:g.2970742_2970744dup, NC_000006.12:g.2970741_2970744dup, NC_000006.12:g.2970740_2970744dup, NC_000006.12:g.2970739_2970744dup, NC_000006.12:g.2970736_2970744dup, NC_000006.12:g.2970733_2970744dup, NC_000006.11:g.2970967_2970978del, NC_000006.11:g.2970968_2970978del, NC_000006.11:g.2970969_2970978del, NC_000006.11:g.2970970_2970978del, NC_000006.11:g.2970971_2970978del, NC_000006.11:g.2970972_2970978del, NC_000006.11:g.2970973_2970978del, NC_000006.11:g.2970974_2970978del, NC_000006.11:g.2970975_2970978del, NC_000006.11:g.2970976_2970978del, NC_000006.11:g.2970977_2970978del, NC_000006.11:g.2970978del, NC_000006.11:g.2970978dup, NC_000006.11:g.2970977_2970978dup, NC_000006.11:g.2970976_2970978dup, NC_000006.11:g.2970975_2970978dup, NC_000006.11:g.2970974_2970978dup, NC_000006.11:g.2970973_2970978dup, NC_000006.11:g.2970970_2970978dup, NC_000006.11:g.2970967_2970978dup, NG_027692.1:g.6430_6441del, NG_027692.1:g.6431_6441del, NG_027692.1:g.6432_6441del, NG_027692.1:g.6433_6441del, NG_027692.1:g.6434_6441del, NG_027692.1:g.6435_6441del, NG_027692.1:g.6436_6441del, NG_027692.1:g.6437_6441del, NG_027692.1:g.6438_6441del, NG_027692.1:g.6439_6441del, NG_027692.1:g.6440_6441del, NG_027692.1:g.6441del, NG_027692.1:g.6441dup, NG_027692.1:g.6440_6441dup, NG_027692.1:g.6439_6441dup, NG_027692.1:g.6438_6441dup, NG_027692.1:g.6437_6441dup, NG_027692.1:g.6436_6441dup, NG_027692.1:g.6433_6441dup, NG_027692.1:g.6430_6441dup
6.
rs1491028570 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 6:2951402
(GRCh38)
6:2951636
(GRCh37)
- Canonical SPDI:
- NC_000006.12:2951400:ATA:A
- Gene:
- SERPINB6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.001183/164
(GnomAD)
-=0.008197/15
(Korea1K)
- HGVS:
7.
rs1491009740 has merged into rs34187484 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:2956834
(GRCh38)
6:2957068
(GRCh37)
- Canonical SPDI:
- NC_000006.12:2956821:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:2956821:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:2956821:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:2956821:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:2956821:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:2956821:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:2956821:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SERPINB6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAA=0.0004/3
(
ALFA)
-=0.3167/1586
(1000Genomes)
- HGVS:
NC_000006.12:g.2956834_2956836del, NC_000006.12:g.2956835_2956836del, NC_000006.12:g.2956836del, NC_000006.12:g.2956836dup, NC_000006.12:g.2956835_2956836dup, NC_000006.12:g.2956834_2956836dup, NC_000006.12:g.2956828_2956836dup, NC_000006.11:g.2957068_2957070del, NC_000006.11:g.2957069_2957070del, NC_000006.11:g.2957070del, NC_000006.11:g.2957070dup, NC_000006.11:g.2957069_2957070dup, NC_000006.11:g.2957068_2957070dup, NC_000006.11:g.2957062_2957070dup, NG_027692.1:g.20342_20344del, NG_027692.1:g.20343_20344del, NG_027692.1:g.20344del, NG_027692.1:g.20344dup, NG_027692.1:g.20343_20344dup, NG_027692.1:g.20342_20344dup, NG_027692.1:g.20336_20344dup
9.
rs1490859396 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:2967704
(GRCh38)
6:2967938
(GRCh37)
- Canonical SPDI:
- NC_000006.12:2967703:C:T
- Gene:
- SERPINB6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000029/4
(GnomAD)
T=0.000034/9
(TOPMED)
- HGVS:
11.
rs1490538302 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:2968494
(GRCh38)
6:2968728
(GRCh37)
- Canonical SPDI:
- NC_000006.12:2968493:A:G
- Gene:
- SERPINB6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490493190 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 6:2949151
(GRCh38)
6:2949385
(GRCh37)
- Canonical SPDI:
- NC_000006.12:2949146:CTCTCT:CTCT
- Gene:
- SERPINB6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTCT=0.000094/1
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000015/4
(TOPMED)
- HGVS:
13.
rs1490126279 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:2964087
(GRCh38)
6:2964321
(GRCh37)
- Canonical SPDI:
- NC_000006.12:2964086:T:C
- Gene:
- SERPINB6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000021/3
(GnomAD)
C=0.000026/7
(TOPMED)
- HGVS:
14.
rs1490042925 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 6:2966340
(GRCh38)
6:2966574
(GRCh37)
- Canonical SPDI:
- NC_000006.12:2966339:G:T
- Gene:
- SERPINB6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.0031/14
(
ALFA)
T=0.0031/14
(Estonian)
- HGVS:
15.
rs1489905989 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:2965382
(GRCh38)
6:2965616
(GRCh37)
- Canonical SPDI:
- NC_000006.12:2965381:T:C
- Gene:
- SERPINB6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.00003/8
(TOPMED)
- HGVS:
16.
rs1489675577 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 6:2965185
(GRCh38)
6:2965419
(GRCh37)
- Canonical SPDI:
- NC_000006.12:2965184:G:C
- Gene:
- SERPINB6 (Varview)
- Functional Consequence:
- genic_upstream_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:
17.
rs1489666264 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:2962479
(GRCh38)
6:2962713
(GRCh37)
- Canonical SPDI:
- NC_000006.12:2962478:T:C
- Gene:
- SERPINB6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000026/7
(TOPMED)
- HGVS:
18.
rs1489614641 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:2957410
(GRCh38)
6:2957644
(GRCh37)
- Canonical SPDI:
- NC_000006.12:2957409:C:T
- Gene:
- SERPINB6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
19.
rs1489422160 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:2961726
(GRCh38)
6:2961960
(GRCh37)
- Canonical SPDI:
- NC_000006.12:2961725:T:C
- Gene:
- SERPINB6 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000029/4
(GnomAD)
C=0.000045/12
(TOPMED)
C=0.000312/2
(1000Genomes)
- HGVS:
20.
rs1489403036 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:2957288
(GRCh38)
6:2957522
(GRCh37)
- Canonical SPDI:
- NC_000006.12:2957287:C:T
- Gene:
- SERPINB6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS: