Links from Gene
Items: 1 to 20 of 1000
2.
rs1491572161 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 13:39019540
(GRCh38)
13:39593678
(GRCh37)
- Canonical SPDI:
- NC_000013.11:39019540:GGG:GGGG
- Gene:
- PROSER1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
G=0.000015/2
(GnomAD)
- HGVS:
3.
rs1491571269 has merged into rs200677404 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-,GG
[Show Flanks]
- Chromosome:
- 13:39024578
(GRCh38)
13:39598715
(GRCh37)
- Canonical SPDI:
- NC_000013.11:39024577:GG:G,NC_000013.11:39024577:GG:GGG
- Gene:
- PROSER1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0.0004/9
(
ALFA)
-=0.00302/165
(ExAC)
-=0.00921/59
(1000Genomes)
-=0.01226/153
(GoESP)
- HGVS:
4.
rs1491532556 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 13:39018473
(GRCh38)
13:39592610
(GRCh37)
- Canonical SPDI:
- NC_000013.11:39018472:GA:
- Gene:
- PROSER1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.01294/48
(TWINSUK)
-=0.0192/74
(ALSPAC)
- HGVS:
5.
rs1491472023 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 13:39029246
(GRCh38)
13:39603383
(GRCh37)
- Canonical SPDI:
- NC_000013.11:39029245:GT:
- Gene:
- PROSER1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000022/2
(ExAC)
-=0.000022/3
(GnomAD_exomes)
-=0.020227/75
(TWINSUK)
-=0.036066/139
(ALSPAC)
- HGVS:
6.
rs1491393684 has merged into rs397933451 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 13:39024577
(GRCh38)
13:39598714
(GRCh37)
- Canonical SPDI:
- NC_000013.11:39024576:AG:
- Gene:
- PROSER1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.00009/5
(ExAC)
-=0.01393/174
(GoESP)
- HGVS:
8.
rs1491328609 has merged into rs1183602451 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 13:39019526
(GRCh38)
13:39593663
(GRCh37)
- Canonical SPDI:
- NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PROSER1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
NC_000013.11:g.39019526_39019540del, NC_000013.11:g.39019527_39019540del, NC_000013.11:g.39019528_39019540del, NC_000013.11:g.39019529_39019540del, NC_000013.11:g.39019530_39019540del, NC_000013.11:g.39019531_39019540del, NC_000013.11:g.39019532_39019540del, NC_000013.11:g.39019533_39019540del, NC_000013.11:g.39019534_39019540del, NC_000013.11:g.39019535_39019540del, NC_000013.11:g.39019536_39019540del, NC_000013.11:g.39019537_39019540del, NC_000013.11:g.39019538_39019540del, NC_000013.11:g.39019539_39019540del, NC_000013.11:g.39019540del, NC_000013.11:g.39019540dup, NC_000013.11:g.39019539_39019540dup, NC_000013.11:g.39019538_39019540dup, NC_000013.11:g.39019537_39019540dup, NC_000013.11:g.39019535_39019540dup, NC_000013.11:g.39019533_39019540dup, NC_000013.11:g.39019531_39019540dup, NC_000013.10:g.39593663_39593677del, NC_000013.10:g.39593664_39593677del, NC_000013.10:g.39593665_39593677del, NC_000013.10:g.39593666_39593677del, NC_000013.10:g.39593667_39593677del, NC_000013.10:g.39593668_39593677del, NC_000013.10:g.39593669_39593677del, NC_000013.10:g.39593670_39593677del, NC_000013.10:g.39593671_39593677del, NC_000013.10:g.39593672_39593677del, NC_000013.10:g.39593673_39593677del, NC_000013.10:g.39593674_39593677del, NC_000013.10:g.39593675_39593677del, NC_000013.10:g.39593676_39593677del, NC_000013.10:g.39593677del, NC_000013.10:g.39593677dup, NC_000013.10:g.39593676_39593677dup, NC_000013.10:g.39593675_39593677dup, NC_000013.10:g.39593674_39593677dup, NC_000013.10:g.39593672_39593677dup, NC_000013.10:g.39593670_39593677dup, NC_000013.10:g.39593668_39593677dup
9.
rs1491285092 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 13:39019516
(GRCh38)
13:39593653
(GRCh37)
- Canonical SPDI:
- NC_000013.11:39019515:CA:
- Gene:
- PROSER1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.0016/19
(
ALFA)
-=0.00062/16
(TOMMO)
- HGVS:
10.
rs1491272679 has merged into rs35072988 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGT>-,GT,GTGTGT,GTGTGTGT,GTGTGTGTGT
[Show Flanks]
- Chromosome:
- 13:39027094
(GRCh38)
13:39601231
(GRCh37)
- Canonical SPDI:
- NC_000013.11:39027088:TGTGTGTGT:TGTGT,NC_000013.11:39027088:TGTGTGTGT:TGTGTGT,NC_000013.11:39027088:TGTGTGTGT:TGTGTGTGTGT,NC_000013.11:39027088:TGTGTGTGT:TGTGTGTGTGTGT,NC_000013.11:39027088:TGTGTGTGT:TGTGTGTGTGTGTGT
- Gene:
- PROSER1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGT=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
TGTG=0.1/4
(GENOME_DK)
TGTG=0.110045/493
(Estonian)
TGTG=0.112224/112
(GoNL)
TGTG=0.13/78
(NorthernSweden)
TGTG=0.179772/3013
(TOMMO)
TGTG=0.191693/960
(1000Genomes)
TGTG=0.235849/50
(Vietnamese)
- HGVS:
11.
rs1491231428 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 13:39020092
(GRCh38)
13:39594230
(GRCh37)
- Canonical SPDI:
- NC_000013.11:39020092::C
- Gene:
- PROSER1 (Varview)
- Functional Consequence:
- 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:
12.
rs1491140456 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 13:39029269
(GRCh38)
13:39603407
(GRCh37)
- Canonical SPDI:
- NC_000013.11:39029269:G:GG
- Gene:
- PROSER1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
G=0.000015/2
(GnomAD)
- HGVS:
14.
rs1490867876 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 13:39035109
(GRCh38)
13:39609246
(GRCh37)
- Canonical SPDI:
- NC_000013.11:39035108:T:G
- Gene:
- PROSER1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
15.
rs1490703361 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 13:39034213
(GRCh38)
13:39608350
(GRCh37)
- Canonical SPDI:
- NC_000013.11:39034212:C:A
- Gene:
- PROSER1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
A=0.00001/2
(GnomAD_exomes)
- HGVS:
17.
rs1490645802 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTTAA>-
[Show Flanks]
- Chromosome:
- 13:39011787
(GRCh38)
13:39585924
(GRCh37)
- Canonical SPDI:
- NC_000013.11:39011784:AAGTTAA:AA
- Gene:
- PROSER1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
18.
rs1490536681 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:39012125
(GRCh38)
13:39586262
(GRCh37)
- Canonical SPDI:
- NC_000013.11:39012124:T:C
- Gene:
- PROSER1 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
NC_000013.11:g.39012125T>C, NC_000013.10:g.39586262T>C, NM_025138.5:c.2670A>G, NM_025138.4:c.2670A>G, NM_170719.4:c.2604A>G, NM_170719.3:c.2604A>G, NM_170719.2:c.2604A>G, NM_170719.1:c.2268A>G, XM_011535239.4:c.2583A>G, XM_011535239.3:c.2583A>G, XM_011535239.2:c.2583A>G, XM_011535239.1:c.2583A>G, XM_047430652.1:c.2517A>G
19.
rs1490527127 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 13:39021840
(GRCh38)
13:39595978
(GRCh37)
- Canonical SPDI:
- NC_000013.11:39021840:A:AA
- Gene:
- PROSER1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
A=0.000042/11
(TOPMED)
- HGVS:
20.
rs1490445185 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:39033618
(GRCh38)
13:39607755
(GRCh37)
- Canonical SPDI:
- NC_000013.11:39033617:T:C
- Gene:
- PROSER1 (Varview)
- Functional Consequence:
- 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: