Links from Gene
Items: 1 to 20 of 1000
1.
rs1491527569 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 7:117379133
(GRCh38)
7:117019187
(GRCh37)
- Canonical SPDI:
- NC_000007.14:117379132:TT:
- Gene:
- ASZ1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00273/46
(TOMMO)
- HGVS:
2.
rs1491430258 has merged into rs71148368 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTT>-,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 7:117425265
(GRCh38)
7:117065319
(GRCh37)
- Canonical SPDI:
- NC_000007.14:117425259:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTT,NC_000007.14:117425259:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:117425259:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:117425259:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:117425259:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:117425259:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:117425259:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:117425259:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:117425259:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:117425259:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:117425259:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:117425259:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:117425259:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:117425259:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:117425259:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:117425259:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:117425259:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:117425259:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:117425259:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:117425259:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:117425259:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:117425259:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:117425259:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:117425259:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:117425259:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:117425259:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:117425259:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:117425259:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:117425259:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:117425259:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:117425259:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:117425259:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ASZ1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000007.14:g.117425265_117425283del, NC_000007.14:g.117425271_117425283del, NC_000007.14:g.117425272_117425283del, NC_000007.14:g.117425273_117425283del, NC_000007.14:g.117425274_117425283del, NC_000007.14:g.117425275_117425283del, NC_000007.14:g.117425276_117425283del, NC_000007.14:g.117425277_117425283del, NC_000007.14:g.117425278_117425283del, NC_000007.14:g.117425279_117425283del, NC_000007.14:g.117425280_117425283del, NC_000007.14:g.117425281_117425283del, NC_000007.14:g.117425282_117425283del, NC_000007.14:g.117425283del, NC_000007.14:g.117425283dup, NC_000007.14:g.117425282_117425283dup, NC_000007.14:g.117425281_117425283dup, NC_000007.14:g.117425280_117425283dup, NC_000007.14:g.117425279_117425283dup, NC_000007.14:g.117425278_117425283dup, NC_000007.14:g.117425277_117425283dup, NC_000007.14:g.117425276_117425283dup, NC_000007.14:g.117425275_117425283dup, NC_000007.14:g.117425274_117425283dup, NC_000007.14:g.117425272_117425283dup, NC_000007.14:g.117425270_117425283dup, NC_000007.14:g.117425269_117425283dup, NC_000007.14:g.117425268_117425283dup, NC_000007.14:g.117425264_117425283dup, NC_000007.14:g.117425283_117425284insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.117425283_117425284insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.117425283_117425284insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.117065319_117065337del, NC_000007.13:g.117065325_117065337del, NC_000007.13:g.117065326_117065337del, NC_000007.13:g.117065327_117065337del, NC_000007.13:g.117065328_117065337del, NC_000007.13:g.117065329_117065337del, NC_000007.13:g.117065330_117065337del, NC_000007.13:g.117065331_117065337del, NC_000007.13:g.117065332_117065337del, NC_000007.13:g.117065333_117065337del, NC_000007.13:g.117065334_117065337del, NC_000007.13:g.117065335_117065337del, NC_000007.13:g.117065336_117065337del, NC_000007.13:g.117065337del, NC_000007.13:g.117065337dup, NC_000007.13:g.117065336_117065337dup, NC_000007.13:g.117065335_117065337dup, NC_000007.13:g.117065334_117065337dup, NC_000007.13:g.117065333_117065337dup, NC_000007.13:g.117065332_117065337dup, NC_000007.13:g.117065331_117065337dup, NC_000007.13:g.117065330_117065337dup, NC_000007.13:g.117065329_117065337dup, NC_000007.13:g.117065328_117065337dup, NC_000007.13:g.117065326_117065337dup, NC_000007.13:g.117065324_117065337dup, NC_000007.13:g.117065323_117065337dup, NC_000007.13:g.117065322_117065337dup, NC_000007.13:g.117065318_117065337dup, NC_000007.13:g.117065337_117065338insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.117065337_117065338insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.117065337_117065338insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
3.
rs1491399393 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TGAG,TGTGAG,TGTGTGAG,TGTGTGTGAG,TGTGTGTGTGAG,TGTGTGTGTGTGAG
[Show Flanks]
- Chromosome:
- 7:117370849
(GRCh38)
7:117010904
(GRCh37)
- Canonical SPDI:
- NC_000007.14:117370849:G:GTGAG,NC_000007.14:117370849:G:GTGTGAG,NC_000007.14:117370849:G:GTGTGTGAG,NC_000007.14:117370849:G:GTGTGTGTGAG,NC_000007.14:117370849:G:GTGTGTGTGTGAG,NC_000007.14:117370849:G:GTGTGTGTGTGTGAG
- Gene:
- ASZ1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGAG=0./0
(
ALFA)
GTGA=0.00004/1
(TOMMO)
- HGVS:
NC_000007.14:g.117370850_117370851insTGAG, NC_000007.14:g.117370850GT[2]GAG[1], NC_000007.14:g.117370850GT[3]GAG[1], NC_000007.14:g.117370850GT[4]GAG[1], NC_000007.14:g.117370850GT[5]GAG[1], NC_000007.14:g.117370850GT[6]GAG[1], NC_000007.13:g.117010904_117010905insTGAG, NC_000007.13:g.117010904GT[2]GAG[1], NC_000007.13:g.117010904GT[3]GAG[1], NC_000007.13:g.117010904GT[4]GAG[1], NC_000007.13:g.117010904GT[5]GAG[1], NC_000007.13:g.117010904GT[6]GAG[1]
5.
rs1491302490 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TTAT,TTATAT,TTATATAT,TTATATATAT,TTATATATATAT,TTATATATATATAT,TTATATATATATATAT
[Show Flanks]
- Chromosome:
- 7:117379133
(GRCh38)
7:117019188
(GRCh37)
- Canonical SPDI:
- NC_000007.14:117379133:T:TTTAT,NC_000007.14:117379133:T:TTTATAT,NC_000007.14:117379133:T:TTTATATAT,NC_000007.14:117379133:T:TTTATATATAT,NC_000007.14:117379133:T:TTTATATATATAT,NC_000007.14:117379133:T:TTTATATATATATAT,NC_000007.14:117379133:T:TTTATATATATATATAT
- Gene:
- ASZ1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000007.14:g.117379134_117379135insTTAT, NC_000007.14:g.117379134_117379135insTTATAT, NC_000007.14:g.117379134_117379135insTTATATAT, NC_000007.14:g.117379134_117379135insTTATATATAT, NC_000007.14:g.117379134_117379135insTTATATATATAT, NC_000007.14:g.117379134_117379135insTTATATATATATAT, NC_000007.14:g.117379134_117379135insTTATATATATATATAT, NC_000007.13:g.117019188_117019189insTTAT, NC_000007.13:g.117019188_117019189insTTATAT, NC_000007.13:g.117019188_117019189insTTATATAT, NC_000007.13:g.117019188_117019189insTTATATATAT, NC_000007.13:g.117019188_117019189insTTATATATATAT, NC_000007.13:g.117019188_117019189insTTATATATATATAT, NC_000007.13:g.117019188_117019189insTTATATATATATATAT
6.
rs1491288669 has merged into rs572393412 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA,AAAAA
[Show Flanks]
- Chromosome:
- 7:117426339
(GRCh38)
7:117066393
(GRCh37)
- Canonical SPDI:
- NC_000007.14:117426325:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:117426325:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:117426325:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:117426325:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:117426325:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
- Gene:
- ASZ1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.3612/1809
(1000Genomes)
A=0.4/16
(GENOME_DK)
- HGVS:
7.
rs1491277005 has merged into rs57672347 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTGTGTGTGTGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 7:117412055
(GRCh38)
7:117052109
(GRCh37)
- Canonical SPDI:
- NC_000007.14:117412039:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTG,NC_000007.14:117412039:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000007.14:117412039:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000007.14:117412039:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000007.14:117412039:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:117412039:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:117412039:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:117412039:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:117412039:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:117412039:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:117412039:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:117412039:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:117412039:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:117412039:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:117412039:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:117412039:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:117412039:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:117412039:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:117412039:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- Gene:
- ASZ1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGTG=0./0
(
ALFA)
-=0.10734/19
(Vietnamese)
- HGVS:
NC_000007.14:g.117412041TG[7], NC_000007.14:g.117412041TG[8], NC_000007.14:g.117412041TG[9], NC_000007.14:g.117412041TG[10], NC_000007.14:g.117412041TG[11], NC_000007.14:g.117412041TG[12], NC_000007.14:g.117412041TG[13], NC_000007.14:g.117412041TG[14], NC_000007.14:g.117412041TG[15], NC_000007.14:g.117412041TG[16], NC_000007.14:g.117412041TG[17], NC_000007.14:g.117412041TG[18], NC_000007.14:g.117412041TG[19], NC_000007.14:g.117412041TG[21], NC_000007.14:g.117412041TG[22], NC_000007.14:g.117412041TG[23], NC_000007.14:g.117412041TG[24], NC_000007.14:g.117412041TG[25], NC_000007.14:g.117412041TG[26], NC_000007.13:g.117052095TG[7], NC_000007.13:g.117052095TG[8], NC_000007.13:g.117052095TG[9], NC_000007.13:g.117052095TG[10], NC_000007.13:g.117052095TG[11], NC_000007.13:g.117052095TG[12], NC_000007.13:g.117052095TG[13], NC_000007.13:g.117052095TG[14], NC_000007.13:g.117052095TG[15], NC_000007.13:g.117052095TG[16], NC_000007.13:g.117052095TG[17], NC_000007.13:g.117052095TG[18], NC_000007.13:g.117052095TG[19], NC_000007.13:g.117052095TG[21], NC_000007.13:g.117052095TG[22], NC_000007.13:g.117052095TG[23], NC_000007.13:g.117052095TG[24], NC_000007.13:g.117052095TG[25], NC_000007.13:g.117052095TG[26]
8.
rs1491271510 has merged into rs1247224429 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA,AAA
[Show Flanks]
- Chromosome:
- 7:117401395
(GRCh38)
7:117041449
(GRCh37)
- Canonical SPDI:
- NC_000007.14:117401394:AAAAAAAAA:AAAAAAAA,NC_000007.14:117401394:AAAAAAAAA:AAAAAAAAAA,NC_000007.14:117401394:AAAAAAAAA:AAAAAAAAAAA
- Gene:
- ASZ1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0.00007/1
(
ALFA)
AA=0.00164/3
(Korea1K)
- HGVS:
9.
rs1491233439 has merged into rs57133101 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA
[Show Flanks]
- Chromosome:
- 7:117406764
(GRCh38)
7:117046818
(GRCh37)
- Canonical SPDI:
- NC_000007.14:117406754:AAAAAAAAAAAA:AAAAAAAAA,NC_000007.14:117406754:AAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:117406754:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:117406754:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:117406754:AAAAAAAAAAAA:AAAAAAAAAAAAAA
- Gene:
- ASZ1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.17878/689
(ALSPAC)
-=0.18721/714
(1000Genomes)
-=0.19444/721
(TWINSUK)
- HGVS:
10.
rs1491158901 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CT
[Show Flanks]
- Chromosome:
- 7:117425260
(GRCh38)
7:117065315
(GRCh37)
- Canonical SPDI:
- NC_000007.14:117425260:T:TCT
- Gene:
- ASZ1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TCT=0./0
(
ALFA)
TC=0.000004/1
(TOPMED)
- HGVS:
11.
rs1491139167 has merged into rs10625452 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 7:117426495
(GRCh38)
7:117066549
(GRCh37)
- Canonical SPDI:
- NC_000007.14:117426488:AAAAAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000007.14:117426488:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000007.14:117426488:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:117426488:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:117426488:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:117426488:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:117426488:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:117426488:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:117426488:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:117426488:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:117426488:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:117426488:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:117426488:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:117426488:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:117426488:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:117426488:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:117426488:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:117426488:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:117426488:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:117426488:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:117426488:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:117426488:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:117426488:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:117426488:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:117426488:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:117426488:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:117426488:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:117426488:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:117426488:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:117426488:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:117426488:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:117426488:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:117426488:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:117426488:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:117426488:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:117426488:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:117426488:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:117426488:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:117426488:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:117426488:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ASZ1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAA=0./0
(
ALFA)
AAAAA=0.3/12
(GENOME_DK)
- HGVS:
NC_000007.14:g.117426495_117426510del, NC_000007.14:g.117426497_117426510del, NC_000007.14:g.117426499_117426510del, NC_000007.14:g.117426500_117426510del, NC_000007.14:g.117426501_117426510del, NC_000007.14:g.117426503_117426510del, NC_000007.14:g.117426504_117426510del, NC_000007.14:g.117426505_117426510del, NC_000007.14:g.117426506_117426510del, NC_000007.14:g.117426507_117426510del, NC_000007.14:g.117426508_117426510del, NC_000007.14:g.117426509_117426510del, NC_000007.14:g.117426510del, NC_000007.14:g.117426510dup, NC_000007.14:g.117426509_117426510dup, NC_000007.14:g.117426508_117426510dup, NC_000007.14:g.117426507_117426510dup, NC_000007.14:g.117426506_117426510dup, NC_000007.14:g.117426505_117426510dup, NC_000007.14:g.117426504_117426510dup, NC_000007.14:g.117426503_117426510dup, NC_000007.14:g.117426502_117426510dup, NC_000007.14:g.117426501_117426510dup, NC_000007.14:g.117426500_117426510dup, NC_000007.14:g.117426499_117426510dup, NC_000007.14:g.117426498_117426510dup, NC_000007.14:g.117426497_117426510dup, NC_000007.14:g.117426496_117426510dup, NC_000007.14:g.117426495_117426510dup, NC_000007.14:g.117426494_117426510dup, NC_000007.14:g.117426493_117426510dup, NC_000007.14:g.117426492_117426510dup, NC_000007.14:g.117426491_117426510dup, NC_000007.14:g.117426490_117426510dup, NC_000007.14:g.117426489_117426510dup, NC_000007.14:g.117426510_117426511insAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.117426510_117426511insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.117426510_117426511insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.117426510_117426511insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.117426489_117426510A[30]TAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.117066549_117066564del, NC_000007.13:g.117066551_117066564del, NC_000007.13:g.117066553_117066564del, NC_000007.13:g.117066554_117066564del, NC_000007.13:g.117066555_117066564del, NC_000007.13:g.117066557_117066564del, NC_000007.13:g.117066558_117066564del, NC_000007.13:g.117066559_117066564del, NC_000007.13:g.117066560_117066564del, NC_000007.13:g.117066561_117066564del, NC_000007.13:g.117066562_117066564del, NC_000007.13:g.117066563_117066564del, NC_000007.13:g.117066564del, NC_000007.13:g.117066564dup, NC_000007.13:g.117066563_117066564dup, NC_000007.13:g.117066562_117066564dup, NC_000007.13:g.117066561_117066564dup, NC_000007.13:g.117066560_117066564dup, NC_000007.13:g.117066559_117066564dup, NC_000007.13:g.117066558_117066564dup, NC_000007.13:g.117066557_117066564dup, NC_000007.13:g.117066556_117066564dup, NC_000007.13:g.117066555_117066564dup, NC_000007.13:g.117066554_117066564dup, NC_000007.13:g.117066553_117066564dup, NC_000007.13:g.117066552_117066564dup, NC_000007.13:g.117066551_117066564dup, NC_000007.13:g.117066550_117066564dup, NC_000007.13:g.117066549_117066564dup, NC_000007.13:g.117066548_117066564dup, NC_000007.13:g.117066547_117066564dup, NC_000007.13:g.117066546_117066564dup, NC_000007.13:g.117066545_117066564dup, NC_000007.13:g.117066544_117066564dup, NC_000007.13:g.117066543_117066564dup, NC_000007.13:g.117066564_117066565insAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.117066564_117066565insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.117066564_117066565insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.117066564_117066565insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.117066543_117066564A[30]TAAAAAAAAAAAAAAAAAAAAAAAA[1]
12.
rs1491019786 has merged into rs577384608 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAA>-,AA,AAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 7:117387156
(GRCh38)
7:117027210
(GRCh37)
- Canonical SPDI:
- NC_000007.14:117387144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:117387144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:117387144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:117387144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:117387144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:117387144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:117387144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:117387144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:117387144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:117387144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:117387144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:117387144:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ASZ1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000007.14:g.117387156_117387165del, NC_000007.14:g.117387158_117387165del, NC_000007.14:g.117387159_117387165del, NC_000007.14:g.117387162_117387165del, NC_000007.14:g.117387163_117387165del, NC_000007.14:g.117387164_117387165del, NC_000007.14:g.117387165del, NC_000007.14:g.117387165dup, NC_000007.14:g.117387164_117387165dup, NC_000007.14:g.117387163_117387165dup, NC_000007.14:g.117387162_117387165dup, NC_000007.14:g.117387161_117387165dup, NC_000007.13:g.117027210_117027219del, NC_000007.13:g.117027212_117027219del, NC_000007.13:g.117027213_117027219del, NC_000007.13:g.117027216_117027219del, NC_000007.13:g.117027217_117027219del, NC_000007.13:g.117027218_117027219del, NC_000007.13:g.117027219del, NC_000007.13:g.117027219dup, NC_000007.13:g.117027218_117027219dup, NC_000007.13:g.117027217_117027219dup, NC_000007.13:g.117027216_117027219dup, NC_000007.13:g.117027215_117027219dup
13.
rs1490990079 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 7:117378726
(GRCh38)
7:117018780
(GRCh37)
- Canonical SPDI:
- NC_000007.14:117378725:G:C
- Gene:
- ASZ1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
15.
rs1490880577 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 7:117429079
(GRCh38)
7:117069133
(GRCh37)
- Canonical SPDI:
- NC_000007.14:117429078:C:A,NC_000007.14:117429078:C:T
- Gene:
- ASZ1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
16.
rs1490809072 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:117369704
(GRCh38)
7:117009758
(GRCh37)
- Canonical SPDI:
- NC_000007.14:117369703:T:C
- Gene:
- ASZ1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
17.
rs1490804474 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:117403217
(GRCh38)
7:117043271
(GRCh37)
- Canonical SPDI:
- NC_000007.14:117403216:A:G
- Gene:
- ASZ1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1490729764 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 7:117386056
(GRCh38)
7:117026110
(GRCh37)
- Canonical SPDI:
- NC_000007.14:117386055:T:C,NC_000007.14:117386055:T:G
- Gene:
- ASZ1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
19.
rs1490718645 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 7:117382107
(GRCh38)
7:117022161
(GRCh37)
- Canonical SPDI:
- NC_000007.14:117382106:G:A,NC_000007.14:117382106:G:C
- Gene:
- ASZ1 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000149/2
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
A=0.000014/2
(GnomAD)
A=0.000446/2
(Estonian)
- HGVS:
NC_000007.14:g.117382107G>A, NC_000007.14:g.117382107G>C, NC_000007.13:g.117022161G>A, NC_000007.13:g.117022161G>C, NM_130768.3:c.850C>T, NM_130768.3:c.850C>G, NM_130768.2:c.850C>T, NM_130768.2:c.850C>G, NM_001301821.2:c.850C>T, NM_001301821.2:c.850C>G, NM_001301821.1:c.850C>T, NM_001301821.1:c.850C>G, NM_001301822.2:c.226C>T, NM_001301822.2:c.226C>G, NM_001301822.1:c.226C>T, NM_001301822.1:c.226C>G, NR_023315.1:n.913C>T, NR_023315.1:n.913C>G, NP_570124.1:p.His284Tyr, NP_570124.1:p.His284Asp, NP_001288750.1:p.His284Tyr, NP_001288750.1:p.His284Asp, NP_001288751.1:p.His76Tyr, NP_001288751.1:p.His76Asp
20.
rs1490705903 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:117404162
(GRCh38)
7:117044216
(GRCh37)
- Canonical SPDI:
- NC_000007.14:117404161:T:C
- Gene:
- ASZ1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS: