SNP Links for Gene (Select 1282) - SNP

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Select item 14915840921.

rs1491584092 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 13:110164006 (GRCh38)
13:110816353 (GRCh37)
Canonical SPDI:: NC_000013.11:110164005:TG:
Gene:: COL4A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00043/12 (TOMMO)
HGVS:: NC_000013.11:g.110164006_110164007del, NC_000013.10:g.110816353_110816354del, NG_011544.2:g.148143_148144del

Select item 14915827282.

rs1491582728 has merged into rs1353114772 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGGG,GGGGGG [Show Flanks]
Chromosome:: 13:110198078 (GRCh38)
13:110850425 (GRCh37)
Canonical SPDI:: NC_000013.11:110198075:GGGG:GG,NC_000013.11:110198075:GGGG:GGG,NC_000013.11:110198075:GGGG:GGGGGG,NC_000013.11:110198075:GGGG:GGGGGGGG
Gene:: COL4A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGG=0./0 (ALFA)
GGGG=0.000004/1 (TOPMED)
-=0.000283/5 (TOMMO)
-=0.003904/25 (1000Genomes)
HGVS:: NC_000013.11:g.110198078_110198079del, NC_000013.11:g.110198079del, NC_000013.11:g.110198078_110198079dup, NC_000013.11:g.110198076_110198079dup, NC_000013.10:g.110850425_110850426del, NC_000013.10:g.110850426del, NC_000013.10:g.110850425_110850426dup, NC_000013.10:g.110850423_110850426dup, NG_011544.2:g.114073_114074del, NG_011544.2:g.114074del, NG_011544.2:g.114073_114074dup, NG_011544.2:g.114071_114074dup

Select item 14915710483.

rs1491571048 has merged into rs556230875 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTATTTTTTTTAAATATTTAAAAGAAATAATTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 13:110158750 (GRCh38)
13:110811097 (GRCh37)
Canonical SPDI:: NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTAAATATTTAAAAGAAATAATTTTTTTTTTTTTTTTTTTTT,NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:110158739:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: COL4A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
T=0.4099/2053 (1000Genomes)
HGVS:: NC_000013.11:g.110158750_110158759del, NC_000013.11:g.110158754_110158759del, NC_000013.11:g.110158755_110158759del, NC_000013.11:g.110158756_110158759del, NC_000013.11:g.110158757_110158759del, NC_000013.11:g.110158758_110158759del, NC_000013.11:g.110158759del, NC_000013.11:g.110158759dup, NC_000013.11:g.110158758_110158759dup, NC_000013.11:g.110158757_110158759dup, NC_000013.11:g.110158756_110158759dup, NC_000013.11:g.110158740_110158759T[24]ATTTTTTTTAAATATTTAAAAGAAATAATTTTTTTTTTTTTTTTTTTTT[1], NC_000013.11:g.110158755_110158759dup, NC_000013.11:g.110158754_110158759dup, NC_000013.11:g.110158753_110158759dup, NC_000013.11:g.110158752_110158759dup, NC_000013.11:g.110158751_110158759dup, NC_000013.11:g.110158749_110158759dup, NC_000013.11:g.110158759_110158760insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.110158759_110158760insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.110811097_110811106del, NC_000013.10:g.110811101_110811106del, NC_000013.10:g.110811102_110811106del, NC_000013.10:g.110811103_110811106del, NC_000013.10:g.110811104_110811106del, NC_000013.10:g.110811105_110811106del, NC_000013.10:g.110811106del, NC_000013.10:g.110811106dup, NC_000013.10:g.110811105_110811106dup, NC_000013.10:g.110811104_110811106dup, NC_000013.10:g.110811103_110811106dup, NC_000013.10:g.110811087_110811106T[24]ATTTTTTTTAAATATTTAAAAGAAATAATTTTTTTTTTTTTTTTTTTTT[1], NC_000013.10:g.110811102_110811106dup, NC_000013.10:g.110811101_110811106dup, NC_000013.10:g.110811100_110811106dup, NC_000013.10:g.110811099_110811106dup, NC_000013.10:g.110811098_110811106dup, NC_000013.10:g.110811096_110811106dup, NC_000013.10:g.110811106_110811107insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.110811106_110811107insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_011544.2:g.153401_153410del, NG_011544.2:g.153405_153410del, NG_011544.2:g.153406_153410del, NG_011544.2:g.153407_153410del, NG_011544.2:g.153408_153410del, NG_011544.2:g.153409_153410del, NG_011544.2:g.153410del, NG_011544.2:g.153410dup, NG_011544.2:g.153409_153410dup, NG_011544.2:g.153408_153410dup, NG_011544.2:g.153407_153410dup, NG_011544.2:g.153391_153410A[21]TTATTTCTTTTAAATATTTAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_011544.2:g.153406_153410dup, NG_011544.2:g.153405_153410dup, NG_011544.2:g.153404_153410dup, NG_011544.2:g.153403_153410dup, NG_011544.2:g.153402_153410dup, NG_011544.2:g.153400_153410dup, NG_011544.2:g.153410_153411insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_011544.2:g.153410_153411insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14915695374.

rs1491569537 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 13:110228238 (GRCh38)
13:110880586 (GRCh37)
Canonical SPDI:: NC_000013.11:110228238::T
Gene:: COL4A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.110228238_110228239insT, NC_000013.10:g.110880585_110880586insT, NG_011544.2:g.83911_83912insA

Select item 14915619445.

rs1491561944 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CATA [Show Flanks]
Chromosome:: 13:110252478 (GRCh38)
13:110904826 (GRCh37)
Canonical SPDI:: NC_000013.11:110252478:ATA:ATACATA
Gene:: COL4A1 (Varview), LOC124903212 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATACATA=0.00008/1 (ALFA)
ATAC=0.00005/2 (GnomAD)
HGVS:: NC_000013.11:g.110252481_110252482insCATA, NC_000013.10:g.110904828_110904829insCATA, NG_011544.2:g.59671_59672insGTAT

Select item 14915601526.

rs1491560152 has merged into rs58236306 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 13:110163996 (GRCh38)
13:110816343 (GRCh37)
Canonical SPDI:: NC_000013.11:110163984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:110163984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:110163984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:110163984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:110163984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:110163984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:110163984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:110163984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:110163984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:110163984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:110163984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:110163984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:110163984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:110163984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:110163984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:110163984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:110163984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:110163984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:110163984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:110163984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:110163984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:110163984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:110163984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:110163984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:110163984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:110163984:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: COL4A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
TTTTTTT=0.0154/77 (1000Genomes)
HGVS:: NC_000013.11:g.110163996_110164006del, NC_000013.11:g.110163997_110164006del, NC_000013.11:g.110163998_110164006del, NC_000013.11:g.110163999_110164006del, NC_000013.11:g.110164000_110164006del, NC_000013.11:g.110164001_110164006del, NC_000013.11:g.110164002_110164006del, NC_000013.11:g.110164003_110164006del, NC_000013.11:g.110164004_110164006del, NC_000013.11:g.110164005_110164006del, NC_000013.11:g.110164006del, NC_000013.11:g.110164006dup, NC_000013.11:g.110164005_110164006dup, NC_000013.11:g.110164004_110164006dup, NC_000013.11:g.110164003_110164006dup, NC_000013.11:g.110164002_110164006dup, NC_000013.11:g.110164001_110164006dup, NC_000013.11:g.110164000_110164006dup, NC_000013.11:g.110163999_110164006dup, NC_000013.11:g.110163998_110164006dup, NC_000013.11:g.110163997_110164006dup, NC_000013.11:g.110163996_110164006dup, NC_000013.11:g.110163994_110164006dup, NC_000013.11:g.110163993_110164006dup, NC_000013.11:g.110163992_110164006dup, NC_000013.11:g.110164006_110164007insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.110816343_110816353del, NC_000013.10:g.110816344_110816353del, NC_000013.10:g.110816345_110816353del, NC_000013.10:g.110816346_110816353del, NC_000013.10:g.110816347_110816353del, NC_000013.10:g.110816348_110816353del, NC_000013.10:g.110816349_110816353del, NC_000013.10:g.110816350_110816353del, NC_000013.10:g.110816351_110816353del, NC_000013.10:g.110816352_110816353del, NC_000013.10:g.110816353del, NC_000013.10:g.110816353dup, NC_000013.10:g.110816352_110816353dup, NC_000013.10:g.110816351_110816353dup, NC_000013.10:g.110816350_110816353dup, NC_000013.10:g.110816349_110816353dup, NC_000013.10:g.110816348_110816353dup, NC_000013.10:g.110816347_110816353dup, NC_000013.10:g.110816346_110816353dup, NC_000013.10:g.110816345_110816353dup, NC_000013.10:g.110816344_110816353dup, NC_000013.10:g.110816343_110816353dup, NC_000013.10:g.110816341_110816353dup, NC_000013.10:g.110816340_110816353dup, NC_000013.10:g.110816339_110816353dup, NC_000013.10:g.110816353_110816354insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_011544.2:g.148155_148165del, NG_011544.2:g.148156_148165del, NG_011544.2:g.148157_148165del, NG_011544.2:g.148158_148165del, NG_011544.2:g.148159_148165del, NG_011544.2:g.148160_148165del, NG_011544.2:g.148161_148165del, NG_011544.2:g.148162_148165del, NG_011544.2:g.148163_148165del, NG_011544.2:g.148164_148165del, NG_011544.2:g.148165del, NG_011544.2:g.148165dup, NG_011544.2:g.148164_148165dup, NG_011544.2:g.148163_148165dup, NG_011544.2:g.148162_148165dup, NG_011544.2:g.148161_148165dup, NG_011544.2:g.148160_148165dup, NG_011544.2:g.148159_148165dup, NG_011544.2:g.148158_148165dup, NG_011544.2:g.148157_148165dup, NG_011544.2:g.148156_148165dup, NG_011544.2:g.148155_148165dup, NG_011544.2:g.148153_148165dup, NG_011544.2:g.148152_148165dup, NG_011544.2:g.148151_148165dup, NG_011544.2:g.148165_148166insAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14915520557.

rs1491552055 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CACCTGCAT [Show Flanks]
Chromosome:: 13:110186172 (GRCh38)
13:110838520 (GRCh37)
Canonical SPDI:: NC_000013.11:110186172:CACCTGCAT:CACCTGCATCACCTGCAT
Gene:: COL4A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CACCTGCATCACCTGCAT=0./0 (ALFA)
CACCTGCAT=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.110186173_110186181dup, NC_000013.10:g.110838520_110838528dup, NG_011544.2:g.125969_125977dup

Select item 14915055238.

rs1491505523 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA [Show Flanks]
Chromosome:: 13:110252482 (GRCh38)
13:110904829 (GRCh37)
Canonical SPDI:: NC_000013.11:110252477:TATATATA:TATA,NC_000013.11:110252477:TATATATA:TATATA
Gene:: COL4A1 (Varview), LOC124903212 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATATA=0.00008/1 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000013.11:g.110252478TA[2], NC_000013.11:g.110252478TA[3], NC_000013.10:g.110904825TA[2], NC_000013.10:g.110904825TA[3], NG_011544.2:g.59665TA[2], NG_011544.2:g.59665TA[3]

Select item 14915038059.

rs1491503805 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 13:110158759 (GRCh38)
13:110811106 (GRCh37)
Canonical SPDI:: NC_000013.11:110158758:TG:
Gene:: COL4A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000013.11:g.110158759_110158760del, NC_000013.10:g.110811106_110811107del, NG_011544.2:g.153390_153391del

Select item 149144394010.

rs1491443940 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAAA [Show Flanks]
Chromosome:: 13:110227427 (GRCh38)
13:110879774 (GRCh37)
Canonical SPDI:: NC_000013.11:110227425:AAA:A,NC_000013.11:110227425:AAA:AAAAA
Gene:: COL4A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.069803/828 (ALFA)
-=0.06689/40 (NorthernSweden)
-=0.067795/8847 (GnomAD)
-=0.075/3 (GENOME_DK)
-=0.130259/483 (TWINSUK)
-=0.135703/523 (ALSPAC)
-=0.149563/274 (Korea1K)
-=0.1599/2679 (TOMMO)
HGVS:: NC_000013.11:g.110227427_110227428del, NC_000013.11:g.110227427_110227428dup, NC_000013.10:g.110879774_110879775del, NC_000013.10:g.110879774_110879775dup, NG_011544.2:g.84723_84724del, NG_011544.2:g.84723_84724dup

Select item 149142384711.

rs1491423847 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTG,TTTTG,TTTTTA,TTTTTTTA [Show Flanks]
Chromosome:: 13:110158759 (GRCh38)
13:110811107 (GRCh37)
Canonical SPDI:: NC_000013.11:110158759::TTG,NC_000013.11:110158759::TTTTG,NC_000013.11:110158759::TTTTTA,NC_000013.11:110158759::TTTTTTTA
Gene:: COL4A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTG=0./0 (ALFA)
TTG=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.110158759_110158760insTTG, NC_000013.11:g.110158759_110158760insTTTTG, NC_000013.11:g.110158759_110158760insTTTTTA, NC_000013.11:g.110158759_110158760insTTTTTTTA, NC_000013.10:g.110811106_110811107insTTG, NC_000013.10:g.110811106_110811107insTTTTG, NC_000013.10:g.110811106_110811107insTTTTTA, NC_000013.10:g.110811106_110811107insTTTTTTTA, NG_011544.2:g.153390_153391insCAA, NG_011544.2:g.153390_153391insCAAAA, NG_011544.2:g.153390_153391insTAAAAA, NG_011544.2:g.153390_153391insTAAAAAAA

Select item 149140803012.

rs1491408030 has merged into rs59600040 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG,GGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGTGGGGGGGGGGGGGGGGGGGGGG [Show Flanks]
Chromosome:: 13:110228246 (GRCh38)
13:110880593 (GRCh37)
Canonical SPDI:: NC_000013.11:110228237:GGGGGGGGGG:GGGGGGGG,NC_000013.11:110228237:GGGGGGGGGG:GGGGGGGGG,NC_000013.11:110228237:GGGGGGGGGG:GGGGGGGGGGG,NC_000013.11:110228237:GGGGGGGGGG:GGGGGGGGGGGG,NC_000013.11:110228237:GGGGGGGGGG:GGGGGGGGGGGGG,NC_000013.11:110228237:GGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000013.11:110228237:GGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000013.11:110228237:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGG,NC_000013.11:110228237:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000013.11:110228237:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000013.11:110228237:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000013.11:110228237:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000013.11:110228237:GGGGGGGGGG:GGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGG
Gene:: COL4A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGGGG=0./0 (ALFA)
G=0.425/17 (GENOME_DK)
-=0.4267/2137 (1000Genomes)
HGVS:: NC_000013.11:g.110228246_110228247del, NC_000013.11:g.110228247del, NC_000013.11:g.110228247dup, NC_000013.11:g.110228246_110228247dup, NC_000013.11:g.110228245_110228247dup, NC_000013.11:g.110228242_110228247dup, NC_000013.11:g.110228241_110228247dup, NC_000013.11:g.110228247_110228248insGGGGGGGGGGGGG, NC_000013.11:g.110228247_110228248insGGGGGGGGGGGGGGGGGGGGGGGG, NC_000013.11:g.110228247_110228248insGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000013.11:g.110228247_110228248insGGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000013.11:g.110228247_110228248insGGGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000013.11:g.110228238_110228247G[11]TGGGGGGGGGGGGGGGGGGGGGG[1], NC_000013.10:g.110880593_110880594del, NC_000013.10:g.110880594del, NC_000013.10:g.110880594dup, NC_000013.10:g.110880593_110880594dup, NC_000013.10:g.110880592_110880594dup, NC_000013.10:g.110880589_110880594dup, NC_000013.10:g.110880588_110880594dup, NC_000013.10:g.110880594_110880595insGGGGGGGGGGGGG, NC_000013.10:g.110880594_110880595insGGGGGGGGGGGGGGGGGGGGGGGG, NC_000013.10:g.110880594_110880595insGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000013.10:g.110880594_110880595insGGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000013.10:g.110880594_110880595insGGGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000013.10:g.110880585_110880594G[11]TGGGGGGGGGGGGGGGGGGGGGG[1], NG_011544.2:g.83911_83912del, NG_011544.2:g.83912del, NG_011544.2:g.83912dup, NG_011544.2:g.83911_83912dup, NG_011544.2:g.83910_83912dup, NG_011544.2:g.83907_83912dup, NG_011544.2:g.83906_83912dup, NG_011544.2:g.83912_83913insCCCCCCCCCCCCC, NG_011544.2:g.83912_83913insCCCCCCCCCCCCCCCCCCCCCCCC, NG_011544.2:g.83912_83913insCCCCCCCCCCCCCCCCCCCCCCCCC, NG_011544.2:g.83912_83913insCCCCCCCCCCCCCCCCCCCCCCCCCC, NG_011544.2:g.83912_83913insCCCCCCCCCCCCCCCCCCCCCCCCCCC, NG_011544.2:g.83903_83912C[22]ACCCCCCCCCCC[1]

Select item 149140786813.

rs1491407868 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 13:110170129 (GRCh38)
13:110822476 (GRCh37)
Canonical SPDI:: NC_000013.11:110170128:GG:
Gene:: COL4A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: -=0.00081/18 (GnomAD)
HGVS:: NC_000013.11:g.110170129_110170130del, NC_000013.10:g.110822476_110822477del, NG_011544.2:g.142020_142021del

Select item 149140726114.

rs1491407261 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 13:110252486 (GRCh38)
13:110904833 (GRCh37)
Canonical SPDI:: NC_000013.11:110252485:CG:
Gene:: COL4A1 (Varview), LOC124903212 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.00016/8 (GnomAD)
HGVS:: NC_000013.11:g.110252486_110252487del, NC_000013.10:g.110904833_110904834del, NG_011544.2:g.59663_59664del

Select item 149135172415.

rs1491351724 [Homo sapiens]

Variant type:: INS
Alleles:: ->TGTGTG [Show Flanks]
Chromosome:: 13:110219966 (GRCh38)
13:110872314 (GRCh37)
Canonical SPDI:: NC_000013.11:110219966::TGTGTG
Gene:: COL4A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: TGTGTG=0.0005/14 (TOMMO)
HGVS:: NC_000013.11:g.110219966_110219967insTGTGTG, NC_000013.10:g.110872313_110872314insTGTGTG, NG_011544.2:g.92183_92184insCACACA

Select item 149134600216.

rs1491346002 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 13:110268040 (GRCh38)
13:110920388 (GRCh37)
Canonical SPDI:: NC_000013.11:110268040:T:TT
Gene:: COL4A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000198/3 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000029/4 (GnomAD)
T=0.00067/3 (Estonian)
HGVS:: NC_000013.11:g.110268041dup, NC_000013.10:g.110920388dup, NG_011544.2:g.44109dup

Select item 149134521517.

rs1491345215 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TACATACACGTATAATTATATGTGTATGTAT,TACATATACGTATAATTATATGTGTATGTAT,TACATATACGTATAATTATATGTGTATGTATGTATTACATATACGTATAATTATATGTGTATGTAT,TACATATACGTATAATTATGTGTATGTAT,TACATATACTTATAATTATATGTGTATGTAT,TACATATACTTATAATTATATGTGTATGTATGTATTACATATACGTATAATTATATGTGTATGTAT,TACATATACTTATAATTATGTGTATGTAT [Show Flanks]
Chromosome:: 13:110253632 (GRCh38)
13:110905980 (GRCh37)
Canonical SPDI:: NC_000013.11:110253632:TGTATGTAT:TGTATGTATTACATACACGTATAATTATATGTGTATGTAT,NC_000013.11:110253632:TGTATGTAT:TGTATGTATTACATATACGTATAATTATATGTGTATGTAT,NC_000013.11:110253632:TGTATGTAT:TGTATGTATTACATATACGTATAATTATATGTGTATGTATGTATTACATATACGTATAATTATATGTGTATGTAT,NC_000013.11:110253632:TGTATGTAT:TGTATGTATTACATATACGTATAATTATGTGTATGTAT,NC_000013.11:110253632:TGTATGTAT:TGTATGTATTACATATACTTATAATTATATGTGTATGTAT,NC_000013.11:110253632:TGTATGTAT:TGTATGTATTACATATACTTATAATTATATGTGTATGTATGTATTACATATACGTATAATTATATGTGTATGTAT,NC_000013.11:110253632:TGTATGTAT:TGTATGTATTACATATACTTATAATTATGTGTATGTAT
Gene:: COL4A1 (Varview), LOC124903212 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: TGTATGTATTACATATACGTATAATTATATG=0.00468/77 (TOMMO)
HGVS:: NC_000013.11:g.110253633_110253641TGTA[2]TTACATACACGTATAATTATATGTGTATGTAT[1], NC_000013.11:g.110253633_110253641TGTA[2]TTACATATACGTATAATTATATGTGTATGTAT[1], NC_000013.11:g.110253633_110253641TGTATGTATTACATATACGTATAATTATATGTGTA[2]TGTAT[1], NC_000013.11:g.110253633_110253641TGTA[2]TTACATATACGTATAATTATGTGTATGTAT[1], NC_000013.11:g.110253633_110253641TGTA[2]TTACATATACTTATAATTATATGTGTATGTAT[1], NC_000013.11:g.110253633_110253641TGTA[2]TTACATATACTTATAATTATATGTGTATGTATGTATTACATATACGTATAATTATATGTGTATGTAT[1], NC_000013.11:g.110253633_110253641TGTA[2]TTACATATACTTATAATTATGTGTATGTAT[1], NC_000013.10:g.110905980_110905988TGTA[2]TTACATACACGTATAATTATATGTGTATGTAT[1], NC_000013.10:g.110905980_110905988TGTA[2]TTACATATACGTATAATTATATGTGTATGTAT[1], NC_000013.10:g.110905980_110905988TGTATGTATTACATATACGTATAATTATATGTGTA[2]TGTAT[1], NC_000013.10:g.110905980_110905988TGTA[2]TTACATATACGTATAATTATGTGTATGTAT[1], NC_000013.10:g.110905980_110905988TGTA[2]TTACATATACTTATAATTATATGTGTATGTAT[1], NC_000013.10:g.110905980_110905988TGTA[2]TTACATATACTTATAATTATATGTGTATGTATGTATTACATATACGTATAATTATATGTGTATGTAT[1], NC_000013.10:g.110905980_110905988TGTA[2]TTACATATACTTATAATTATGTGTATGTAT[1], NG_011544.2:g.58509_58517ATAC[2]ACATATAATTATACGTGTATGTAATACATACA[1], NG_011544.2:g.58509_58517ATAC[2]ACATATAATTATACGTATATGTAATACATACA[1], NG_011544.2:g.58509_58517ATACATACACATATAATTATACGTATATGTAATAC[2]ATACA[1], NG_011544.2:g.58509_58517ATAC[2]ACATAATTATACGTATATGTAATACATACA[1], NG_011544.2:g.58509_58517ATAC[2]ACATATAATTATAAGTATATGTAATACATACA[1], NG_011544.2:g.58509_58517ATAC[2]ACATATAATTATACGTATATGTAATACATACATACACATATAATTATAAGTATATGTAATACATACA[1], NG_011544.2:g.58509_58517ATAC[2]ACATAATTATAAGTATATGTAATACATACA[1]

Select item 149134497618.

rs1491344976 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 13:110252639 (GRCh38)
13:110904986 (GRCh37)
Canonical SPDI:: NC_000013.11:110252638:CT:
Gene:: COL4A1 (Varview), LOC124903212 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00078/5 (1000Genomes)
-=0.00188/27 (TOMMO)
-=0.0175/101 (GnomAD)
HGVS:: NC_000013.11:g.110252639_110252640del, NC_000013.10:g.110904986_110904987del, NG_011544.2:g.59510_59511del

Select item 149133530219.

rs1491335302 has merged into rs904530409 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA [Show Flanks]
Chromosome:: 13:110219967 (GRCh38)
13:110872314 (GRCh37)
Canonical SPDI:: NC_000013.11:110219965:ACA:A,NC_000013.11:110219965:ACA:ACACA
Gene:: COL4A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACA=0./0 (ALFA)
AC=0.00013/4 (GnomAD)
-=0.00186/3 (Korea1K)
-=0.00294/46 (TOMMO)
HGVS:: NC_000013.11:g.110219967_110219968del, NC_000013.11:g.110219967_110219968dup, NC_000013.10:g.110872314_110872315del, NC_000013.10:g.110872314_110872315dup, NG_011544.2:g.92183_92184del, NG_011544.2:g.92183_92184dup

Select item 149132994220.

rs1491329942 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 13:110268044 (GRCh38)
13:110920391 (GRCh37)
Canonical SPDI:: NC_000013.11:110268039:CTCTCT:CTCT
Gene:: COL4A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000013.11:g.110268040CT[2], NC_000013.10:g.110920387CT[2], NG_011544.2:g.44105AG[2]

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