SNP Links for Gene (Select 101928153) - SNP

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Select item 14915695251.

rs1491569525 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 3:37818251 (GRCh38)
3:37859742 (GRCh37)
Canonical SPDI:: NC_000003.12:37818250:CT:
Gene:: ITGA9 (Varview), ITGA9-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.000268/27 (GnomAD)
HGVS:: NC_000003.12:g.37818251_37818252del, NC_000003.11:g.37859742_37859743del, NG_016166.1:g.370930_370931del, NW_025791771.1:g.390908_390909del

Select item 14915653132.

rs1491565313 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 3:37818191 (GRCh38)
3:37859682 (GRCh37)
Canonical SPDI:: NC_000003.12:37818190:TA:
Gene:: ITGA9 (Varview), ITGA9-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000003.12:g.37818191_37818192del, NC_000003.11:g.37859682_37859683del, NG_016166.1:g.370870_370871del, NW_025791771.1:g.390848_390849del

Select item 14915619913.

rs1491561991 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:37758329 (GRCh38)
3:37799820 (GRCh37)
Canonical SPDI:: NC_000003.12:37758328:CA:
Gene:: ITGA9 (Varview), ITGA9-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0317/376 (ALFA)
-=0.0017/31 (TOMMO)
HGVS:: NC_000003.12:g.37758329_37758330del, NC_000003.11:g.37799820_37799821del, NG_016166.1:g.311008_311009del, NW_025791771.1:g.330986_330987del

Select item 14914785174.

rs1491478517 has merged into rs56757292 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 3:37838333 (GRCh38)
3:37879824 (GRCh37)
Canonical SPDI:: NC_000003.12:37838320:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:37838320:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:37838320:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:37838320:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:37838320:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:37838320:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:37838320:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: ITGA9-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000003.12:g.37838333_37838335del, NC_000003.12:g.37838334_37838335del, NC_000003.12:g.37838335del, NC_000003.12:g.37838335dup, NC_000003.12:g.37838334_37838335dup, NC_000003.12:g.37838333_37838335dup, NC_000003.12:g.37838329_37838335dup, NC_000003.11:g.37879824_37879826del, NC_000003.11:g.37879825_37879826del, NC_000003.11:g.37879826del, NC_000003.11:g.37879826dup, NC_000003.11:g.37879825_37879826dup, NC_000003.11:g.37879824_37879826dup, NC_000003.11:g.37879820_37879826dup, NW_025791771.1:g.410990_410992del, NW_025791771.1:g.410991_410992del, NW_025791771.1:g.410992del, NW_025791771.1:g.410992dup, NW_025791771.1:g.410991_410992dup, NW_025791771.1:g.410990_410992dup, NW_025791771.1:g.410986_410992dup

Select item 14914497245.

rs1491449724 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CACATA,CATA [Show Flanks]
Chromosome:: 3:37759100 (GRCh38)
3:37800592 (GRCh37)
Canonical SPDI:: NC_000003.12:37759100:A:ACACATA,NC_000003.12:37759100:A:ACATA
Gene:: ITGA9 (Varview), ITGA9-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACATA=0./0 (ALFA)
ACACAT=0.000004/1 (TOPMED)
ACAT=0.000029/4 (GnomAD)
HGVS:: NC_000003.12:g.37759101AC[2]ATA[1], NC_000003.12:g.37759101_37759102insCATA, NC_000003.11:g.37800592AC[2]ATA[1], NC_000003.11:g.37800592_37800593insCATA, NG_016166.1:g.311780AC[2]ATA[1], NG_016166.1:g.311780_311781insCATA, NW_025791771.1:g.331758AC[2]ATA[1], NW_025791771.1:g.331758_331759insCATA

Select item 14914107626.

rs1491410762 has merged into rs59945410 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT,GTGTGT,GTGTGTGT,GTGTGTGTGT [Show Flanks]
Chromosome:: 3:37806317 (GRCh38)
3:37847808 (GRCh37)
Canonical SPDI:: NC_000003.12:37806306:GTGTGTGTGTGTGT:GTGTGTGTGT,NC_000003.12:37806306:GTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000003.12:37806306:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000003.12:37806306:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000003.12:37806306:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT
Gene:: ITGA9 (Varview), ITGA9-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.025/1 (GENOME_DK)
-=0.048333/29 (NorthernSweden)
-=0.07515/75 (GoNL)
-=0.106987/196 (Korea1K)
-=0.120904/32002 (TOPMED)
-=0.138778/695 (1000Genomes)
HGVS:: NC_000003.12:g.37806307GT[5], NC_000003.12:g.37806307GT[6], NC_000003.12:g.37806307GT[8], NC_000003.12:g.37806307GT[9], NC_000003.12:g.37806307GT[10], NC_000003.11:g.37847798GT[5], NC_000003.11:g.37847798GT[6], NC_000003.11:g.37847798GT[8], NC_000003.11:g.37847798GT[9], NC_000003.11:g.37847798GT[10], NG_016166.1:g.358986GT[5], NG_016166.1:g.358986GT[6], NG_016166.1:g.358986GT[8], NG_016166.1:g.358986GT[9], NG_016166.1:g.358986GT[10], NW_025791771.1:g.378964GT[5], NW_025791771.1:g.378964GT[6], NW_025791771.1:g.378964GT[8], NW_025791771.1:g.378964GT[9], NW_025791771.1:g.378964GT[10]

Select item 14913922477.

rs1491392247 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 3:37829346 (GRCh38)
3:37870838 (GRCh37)
Canonical SPDI:: NC_000003.12:37829346::C
Gene:: ITGA9-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000072/10 (GnomAD)
C=0.01624/104 (1000Genomes)
HGVS:: NC_000003.12:g.37829346_37829347insC, NC_000003.11:g.37870837_37870838insC, NW_025791771.1:g.402003_402004insC

Select item 14913760558.

rs1491376055 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 3:37784722 (GRCh38)
3:37826214 (GRCh37)
Canonical SPDI:: NC_000003.12:37784722:A:AA
Gene:: ITGA9 (Varview), ITGA9-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000036/5 (GnomAD)
A=0.000045/12 (TOPMED)
HGVS:: NC_000003.12:g.37784723dup, NC_000003.11:g.37826214dup, NG_016166.1:g.337402dup, NW_025791771.1:g.357380dup

Select item 14913417759.

rs1491341775 has merged into rs1165189273 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:37818264 (GRCh38)
3:37859755 (GRCh37)
Canonical SPDI:: NC_000003.12:37818251:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:37818251:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:37818251:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:37818251:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:37818251:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:37818251:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:37818251:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:37818251:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37818251:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37818251:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37818251:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37818251:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37818251:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37818251:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37818251:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37818251:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37818251:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37818251:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37818251:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37818251:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37818251:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37818251:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37818251:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37818251:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37818251:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37818251:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ITGA9 (Varview), ITGA9-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000003.12:g.37818264_37818277del, NC_000003.12:g.37818265_37818277del, NC_000003.12:g.37818266_37818277del, NC_000003.12:g.37818267_37818277del, NC_000003.12:g.37818269_37818277del, NC_000003.12:g.37818271_37818277del, NC_000003.12:g.37818272_37818277del, NC_000003.12:g.37818274_37818277del, NC_000003.12:g.37818275_37818277del, NC_000003.12:g.37818276_37818277del, NC_000003.12:g.37818277del, NC_000003.12:g.37818277dup, NC_000003.12:g.37818276_37818277dup, NC_000003.12:g.37818275_37818277dup, NC_000003.12:g.37818274_37818277dup, NC_000003.12:g.37818273_37818277dup, NC_000003.12:g.37818272_37818277dup, NC_000003.12:g.37818271_37818277dup, NC_000003.12:g.37818270_37818277dup, NC_000003.12:g.37818269_37818277dup, NC_000003.12:g.37818268_37818277dup, NC_000003.12:g.37818267_37818277dup, NC_000003.12:g.37818266_37818277dup, NC_000003.12:g.37818265_37818277dup, NC_000003.12:g.37818264_37818277dup, NC_000003.12:g.37818263_37818277dup, NC_000003.11:g.37859755_37859768del, NC_000003.11:g.37859756_37859768del, NC_000003.11:g.37859757_37859768del, NC_000003.11:g.37859758_37859768del, NC_000003.11:g.37859760_37859768del, NC_000003.11:g.37859762_37859768del, NC_000003.11:g.37859763_37859768del, NC_000003.11:g.37859765_37859768del, NC_000003.11:g.37859766_37859768del, NC_000003.11:g.37859767_37859768del, NC_000003.11:g.37859768del, NC_000003.11:g.37859768dup, NC_000003.11:g.37859767_37859768dup, NC_000003.11:g.37859766_37859768dup, NC_000003.11:g.37859765_37859768dup, NC_000003.11:g.37859764_37859768dup, NC_000003.11:g.37859763_37859768dup, NC_000003.11:g.37859762_37859768dup, NC_000003.11:g.37859761_37859768dup, NC_000003.11:g.37859760_37859768dup, NC_000003.11:g.37859759_37859768dup, NC_000003.11:g.37859758_37859768dup, NC_000003.11:g.37859757_37859768dup, NC_000003.11:g.37859756_37859768dup, NC_000003.11:g.37859755_37859768dup, NC_000003.11:g.37859754_37859768dup, NG_016166.1:g.370943_370956del, NG_016166.1:g.370944_370956del, NG_016166.1:g.370945_370956del, NG_016166.1:g.370946_370956del, NG_016166.1:g.370948_370956del, NG_016166.1:g.370950_370956del, NG_016166.1:g.370951_370956del, NG_016166.1:g.370953_370956del, NG_016166.1:g.370954_370956del, NG_016166.1:g.370955_370956del, NG_016166.1:g.370956del, NG_016166.1:g.370956dup, NG_016166.1:g.370955_370956dup, NG_016166.1:g.370954_370956dup, NG_016166.1:g.370953_370956dup, NG_016166.1:g.370952_370956dup, NG_016166.1:g.370951_370956dup, NG_016166.1:g.370950_370956dup, NG_016166.1:g.370949_370956dup, NG_016166.1:g.370948_370956dup, NG_016166.1:g.370947_370956dup, NG_016166.1:g.370946_370956dup, NG_016166.1:g.370945_370956dup, NG_016166.1:g.370944_370956dup, NG_016166.1:g.370943_370956dup, NG_016166.1:g.370942_370956dup, NW_025791771.1:g.390921_390934del, NW_025791771.1:g.390922_390934del, NW_025791771.1:g.390923_390934del, NW_025791771.1:g.390924_390934del, NW_025791771.1:g.390926_390934del, NW_025791771.1:g.390928_390934del, NW_025791771.1:g.390929_390934del, NW_025791771.1:g.390931_390934del, NW_025791771.1:g.390932_390934del, NW_025791771.1:g.390933_390934del, NW_025791771.1:g.390934del, NW_025791771.1:g.390934dup, NW_025791771.1:g.390933_390934dup, NW_025791771.1:g.390932_390934dup, NW_025791771.1:g.390931_390934dup, NW_025791771.1:g.390930_390934dup, NW_025791771.1:g.390929_390934dup, NW_025791771.1:g.390928_390934dup, NW_025791771.1:g.390927_390934dup, NW_025791771.1:g.390926_390934dup, NW_025791771.1:g.390925_390934dup, NW_025791771.1:g.390924_390934dup, NW_025791771.1:g.390923_390934dup, NW_025791771.1:g.390922_390934dup, NW_025791771.1:g.390921_390934dup, NW_025791771.1:g.390920_390934dup

Select item 149131660910.

rs1491316609 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 3:37829347 (GRCh38)
3:37870838 (GRCh37)
Canonical SPDI:: NC_000003.12:37829345:TTT:T
Gene:: ITGA9-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
-=0.00005/7 (GnomAD)
HGVS:: NC_000003.12:g.37829347_37829348del, NC_000003.11:g.37870838_37870839del, NW_025791771.1:g.402004_402005del

Select item 149130833411.

rs1491308334 has merged into rs531488860 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCTCTCTCTCT>-,CT,CTCTCT,CTCTCTCT,CTCTCTCTCT,CTCTCTCTCTCTCT,CTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCT [Show Flanks]
Chromosome:: 3:37848947 (GRCh38)
3:37890438 (GRCh37)
Canonical SPDI:: NC_000003.12:37848936:CTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCT,NC_000003.12:37848936:CTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCT,NC_000003.12:37848936:CTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCT,NC_000003.12:37848936:CTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCT,NC_000003.12:37848936:CTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCT,NC_000003.12:37848936:CTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:37848936:CTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:37848936:CTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCT
Gene:: ITGA9-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTCTCTCTCTCTCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.37848937CT[5], NC_000003.12:g.37848937CT[6], NC_000003.12:g.37848937CT[8], NC_000003.12:g.37848937CT[9], NC_000003.12:g.37848937CT[10], NC_000003.12:g.37848937CT[12], NC_000003.12:g.37848937CT[13], NC_000003.12:g.37848937CT[14], NC_000003.11:g.37890428CT[5], NC_000003.11:g.37890428CT[6], NC_000003.11:g.37890428CT[8], NC_000003.11:g.37890428CT[9], NC_000003.11:g.37890428CT[10], NC_000003.11:g.37890428CT[12], NC_000003.11:g.37890428CT[13], NC_000003.11:g.37890428CT[14], NW_025791771.1:g.421594CT[5], NW_025791771.1:g.421594CT[6], NW_025791771.1:g.421594CT[8], NW_025791771.1:g.421594CT[9], NW_025791771.1:g.421594CT[10], NW_025791771.1:g.421594CT[12], NW_025791771.1:g.421594CT[13], NW_025791771.1:g.421594CT[14]

Select item 149127362512.

rs1491273625 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCTCTCTC [Show Flanks]
Chromosome:: 3:37848960 (GRCh38)
3:37890452 (GRCh37)
Canonical SPDI:: NC_000003.12:37848960:CTCTCTC:CTCTCTCCCTCTCTC
Gene:: ITGA9-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTCTCTCCCTCTCTC=0.00017/2 (ALFA)
CTCTCTCC=0.00002/2 (GnomAD)
HGVS:: NC_000003.12:g.37848961_37848967CT[3]CCCTCTCTC[1], NC_000003.11:g.37890452_37890458CT[3]CCCTCTCTC[1], NW_025791771.1:g.421618_421624CT[3]CCCTCTCTC[1]

Select item 149127070113.

rs1491270701 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:37784726 (GRCh38)
3:37826217 (GRCh37)
Canonical SPDI:: NC_000003.12:37784721:CACACA:CACA
Gene:: ITGA9 (Varview), ITGA9-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.37784722CA[2], NC_000003.11:g.37826213CA[2], NG_016166.1:g.337401CA[2], NW_025791771.1:g.357379CA[2]

Select item 149123446314.

rs1491234463 has merged into rs1208645375 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCTCTCTCTCTCTCTCT>-,CT,CTCT,CTCTCT,CTCTCTCT,CTCTCTCTCT,CTCTCTCTCTCT,CTCTCTCTCTCTCT,CTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT [Show Flanks]
Chromosome:: 3:37848971 (GRCh38)
3:37890462 (GRCh37)
Canonical SPDI:: NC_000003.12:37848959:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCT,NC_000003.12:37848959:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCT,NC_000003.12:37848959:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCT,NC_000003.12:37848959:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT,NC_000003.12:37848959:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT,NC_000003.12:37848959:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT,NC_000003.12:37848959:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:37848959:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:37848959:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:37848959:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:37848959:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:37848959:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:37848959:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:37848959:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:37848959:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:37848959:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:37848959:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:37848959:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000003.12:37848959:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT
Gene:: ITGA9-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCTCTCT=0./0 (ALFA)
HGVS:: NC_000003.12:g.37848961CT[5], NC_000003.12:g.37848961CT[6], NC_000003.12:g.37848961CT[7], NC_000003.12:g.37848961CT[8], NC_000003.12:g.37848961CT[9], NC_000003.12:g.37848961CT[10], NC_000003.12:g.37848961CT[11], NC_000003.12:g.37848961CT[12], NC_000003.12:g.37848961CT[13], NC_000003.12:g.37848961CT[15], NC_000003.12:g.37848961CT[16], NC_000003.12:g.37848961CT[17], NC_000003.12:g.37848961CT[18], NC_000003.12:g.37848961CT[19], NC_000003.12:g.37848961CT[20], NC_000003.12:g.37848961CT[21], NC_000003.12:g.37848961CT[22], NC_000003.12:g.37848961CT[23], NC_000003.12:g.37848961CT[24], NC_000003.11:g.37890452CT[5], NC_000003.11:g.37890452CT[6], NC_000003.11:g.37890452CT[7], NC_000003.11:g.37890452CT[8], NC_000003.11:g.37890452CT[9], NC_000003.11:g.37890452CT[10], NC_000003.11:g.37890452CT[11], NC_000003.11:g.37890452CT[12], NC_000003.11:g.37890452CT[13], NC_000003.11:g.37890452CT[15], NC_000003.11:g.37890452CT[16], NC_000003.11:g.37890452CT[17], NC_000003.11:g.37890452CT[18], NC_000003.11:g.37890452CT[19], NC_000003.11:g.37890452CT[20], NC_000003.11:g.37890452CT[21], NC_000003.11:g.37890452CT[22], NC_000003.11:g.37890452CT[23], NC_000003.11:g.37890452CT[24], NW_025791771.1:g.421618CT[5], NW_025791771.1:g.421618CT[6], NW_025791771.1:g.421618CT[7], NW_025791771.1:g.421618CT[8], NW_025791771.1:g.421618CT[9], NW_025791771.1:g.421618CT[10], NW_025791771.1:g.421618CT[11], NW_025791771.1:g.421618CT[12], NW_025791771.1:g.421618CT[13], NW_025791771.1:g.421618CT[15], NW_025791771.1:g.421618CT[16], NW_025791771.1:g.421618CT[17], NW_025791771.1:g.421618CT[18], NW_025791771.1:g.421618CT[19], NW_025791771.1:g.421618CT[20], NW_025791771.1:g.421618CT[21], NW_025791771.1:g.421618CT[22], NW_025791771.1:g.421618CT[23], NW_025791771.1:g.421618CT[24]

Select item 149115150115.

rs1491151501 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 3:37848936 (GRCh38)
3:37890427 (GRCh37)
Canonical SPDI:: NC_000003.12:37848935:AC:
Gene:: ITGA9-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000003.12:g.37848936_37848937del, NC_000003.11:g.37890427_37890428del, NW_025791771.1:g.421593_421594del

Select item 149110885716.

rs1491108857 has merged into rs753666121 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA [Show Flanks]
Chromosome:: 3:37759104 (GRCh38)
3:37800595 (GRCh37)
Canonical SPDI:: NC_000003.12:37759100:ATATA:ATA,NC_000003.12:37759100:ATATA:ATATATA
Gene:: ITGA9 (Varview), ITGA9-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATA=0./0 (ALFA)
AT=0.00117/20 (TOMMO)
AT=0.13161/488 (TWINSUK)
AT=0.1383/533 (ALSPAC)
HGVS:: NC_000003.12:g.37759102TA[1], NC_000003.12:g.37759102TA[3], NC_000003.11:g.37800593TA[1], NC_000003.11:g.37800593TA[3], NG_016166.1:g.311781TA[1], NG_016166.1:g.311781TA[3], NW_025791771.1:g.331759TA[1], NW_025791771.1:g.331759TA[3]

Select item 149110160217.

rs1491101602 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 3:37789604 (GRCh38)
3:37831095 (GRCh37)
Canonical SPDI:: NC_000003.12:37789603:CC:
Gene:: ITGA9 (Varview), ITGA9-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.00025/7 (TOMMO)
-=0.003197/320 (GnomAD)
-=0.010676/6 (NorthernSweden)
HGVS:: NC_000003.12:g.37789604_37789605del, NC_000003.11:g.37831095_37831096del, NG_016166.1:g.342283_342284del, NW_025791771.1:g.362261_362262del

Select item 149108595218.

rs1491085952 has merged into rs11356780 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 3:37778748 (GRCh38)
3:37820239 (GRCh37)
Canonical SPDI:: NC_000003.12:37778741:TTTTTTTT:TTTTTT,NC_000003.12:37778741:TTTTTTTT:TTTTTTT,NC_000003.12:37778741:TTTTTTTT:TTTTTTTTT
Gene:: ITGA9 (Varview), ITGA9-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0.000707/8 (ALFA)
-=0.335067/1675 (1000Genomes)
-=0.373985/98990 (TOPMED)
-=0.4/16 (GENOME_DK)
-=0.404837/1808 (Estonian)
-=0.4226/1567 (TWINSUK)
-=0.424494/1636 (ALSPAC)
HGVS:: NC_000003.12:g.37778748_37778749del, NC_000003.12:g.37778749del, NC_000003.12:g.37778749dup, NC_000003.11:g.37820239_37820240del, NC_000003.11:g.37820240del, NC_000003.11:g.37820240dup, NG_016166.1:g.331427_331428del, NG_016166.1:g.331428del, NG_016166.1:g.331428dup, NW_025791771.1:g.351405_351406del, NW_025791771.1:g.351406del, NW_025791771.1:g.351406dup

Select item 149107758519.

rs1491077585 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 3:37829381 (GRCh38)
3:37870873 (GRCh37)
Canonical SPDI:: NC_000003.12:37829381:TGTGT:TGTGTGT
Gene:: ITGA9-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTGTGT=0.000084/1 (ALFA)
TG=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.37829383GT[3], NC_000003.11:g.37870874GT[3], NW_025791771.1:g.402040GT[3]

Select item 149104574820.

rs1491045748 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA [Show Flanks]
Chromosome:: 3:37759082 (GRCh38)
3:37800574 (GRCh37)
Canonical SPDI:: NC_000003.12:37759082:A:ATA
Gene:: ITGA9 (Varview), ITGA9-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATA=0./0 (ALFA)
AT=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.37759083_37759084insTA, NC_000003.11:g.37800574_37800575insTA, NG_016166.1:g.311762_311763insTA, NW_025791771.1:g.331740_331741insTA

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