SNP Links for Gene (Select 146850) - SNP

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Select item 14915819531.

rs1491581953 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 17:8829510 (GRCh38)
17:8732827 (GRCh37)
Canonical SPDI:: NC_000017.11:8829508:CTC:C
Gene:: PIK3R6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000253/3 (ALFA)
-=0.000106/3 (TOMMO)
-=0.015984/1770 (GnomAD)
HGVS:: NC_000017.11:g.8829510_8829511del, NC_000017.10:g.8732827_8732828del, NG_033091.1:g.43168_43169del

Select item 14915692092.

rs1491569209 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 17:8864557 (GRCh38)
17:8767874 (GRCh37)
Canonical SPDI:: NC_000017.11:8864556:TA:
Gene:: PIK3R6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000084/1 (ALFA)
-=0.000016/2 (GnomAD)
HGVS:: NC_000017.11:g.8864557_8864558del, NC_000017.10:g.8767874_8767875del, NG_033091.1:g.8120_8121del

Select item 14914727603.

rs1491472760 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT,GTT,GTTT,GTTTTTTTT,GTTTTTTTTTTT,GTTTTTTTTTTTTTTTTTTTTT,GTTTTTTTTTTTTTTTTTTTTTTTTTTTT,GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,T,TTT [Show Flanks]
Chromosome:: 17:8864527 (GRCh38)
17:8767845 (GRCh37)
Canonical SPDI:: NC_000017.11:8864527:T:TGT,NC_000017.11:8864527:T:TGTT,NC_000017.11:8864527:T:TGTTT,NC_000017.11:8864527:T:TGTTTTTTTT,NC_000017.11:8864527:T:TGTTTTTTTTTTT,NC_000017.11:8864527:T:TGTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:8864527:T:TGTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:8864527:T:TGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:8864527:T:TT,NC_000017.11:8864527:T:TTTT
Gene:: PIK3R6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.8864528_8864529insGT, NC_000017.11:g.8864528_8864529insGTT, NC_000017.11:g.8864528_8864529insGTTT, NC_000017.11:g.8864528_8864529insGTTTTTTTT, NC_000017.11:g.8864528_8864529insGTTTTTTTTTTT, NC_000017.11:g.8864528_8864529insGTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.8864528_8864529insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.8864528_8864529insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.8864528dup, NC_000017.11:g.8864528_8864529insTTT, NC_000017.10:g.8767845_8767846insGT, NC_000017.10:g.8767845_8767846insGTT, NC_000017.10:g.8767845_8767846insGTTT, NC_000017.10:g.8767845_8767846insGTTTTTTTT, NC_000017.10:g.8767845_8767846insGTTTTTTTTTTT, NC_000017.10:g.8767845_8767846insGTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.8767845_8767846insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.8767845_8767846insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.8767845dup, NC_000017.10:g.8767845_8767846insTTT, NG_033091.1:g.8150_8151insCA, NG_033091.1:g.8150_8151insACA, NG_033091.1:g.8150_8151insAACA, NG_033091.1:g.8150A[8]CA[1], NG_033091.1:g.8150A[11]CA[1], NG_033091.1:g.8150A[21]CA[1], NG_033091.1:g.8150A[28]CA[1], NG_033091.1:g.8150A[42]CA[1], NG_033091.1:g.8150dup, NG_033091.1:g.8150_8151insAAA

Select item 14914574734.

rs1491457473 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 17:8827763 (GRCh38)
17:8731080 (GRCh37)
Canonical SPDI:: NC_000017.11:8827762:GG:
Gene:: PIK3R6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.004/15 (TWINSUK)
-=0.0093/36 (ALSPAC)
HGVS:: NC_000017.11:g.8827763_8827764del, NC_000017.10:g.8731080_8731081del, NG_033091.1:g.44914_44915del

Select item 14914417745.

rs1491441774 has merged into rs35954175 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:8831151 (GRCh38)
17:8734468 (GRCh37)
Canonical SPDI:: NC_000017.11:8831145:AAAAAAAAAAAAAAAAAAAAAAA:AAAAA,NC_000017.11:8831145:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000017.11:8831145:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:8831145:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:8831145:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:8831145:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:8831145:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:8831145:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:8831145:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:8831145:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:8831145:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:8831145:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:8831145:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8831145:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8831145:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8831145:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8831145:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8831145:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8831145:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8831145:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8831145:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PIK3R6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.8831151_8831168del, NC_000017.11:g.8831154_8831168del, NC_000017.11:g.8831156_8831168del, NC_000017.11:g.8831157_8831168del, NC_000017.11:g.8831158_8831168del, NC_000017.11:g.8831159_8831168del, NC_000017.11:g.8831161_8831168del, NC_000017.11:g.8831162_8831168del, NC_000017.11:g.8831163_8831168del, NC_000017.11:g.8831164_8831168del, NC_000017.11:g.8831165_8831168del, NC_000017.11:g.8831166_8831168del, NC_000017.11:g.8831167_8831168del, NC_000017.11:g.8831168del, NC_000017.11:g.8831168dup, NC_000017.11:g.8831167_8831168dup, NC_000017.11:g.8831166_8831168dup, NC_000017.11:g.8831165_8831168dup, NC_000017.11:g.8831164_8831168dup, NC_000017.11:g.8831163_8831168dup, NC_000017.11:g.8831162_8831168dup, NC_000017.10:g.8734468_8734485del, NC_000017.10:g.8734471_8734485del, NC_000017.10:g.8734473_8734485del, NC_000017.10:g.8734474_8734485del, NC_000017.10:g.8734475_8734485del, NC_000017.10:g.8734476_8734485del, NC_000017.10:g.8734478_8734485del, NC_000017.10:g.8734479_8734485del, NC_000017.10:g.8734480_8734485del, NC_000017.10:g.8734481_8734485del, NC_000017.10:g.8734482_8734485del, NC_000017.10:g.8734483_8734485del, NC_000017.10:g.8734484_8734485del, NC_000017.10:g.8734485del, NC_000017.10:g.8734485dup, NC_000017.10:g.8734484_8734485dup, NC_000017.10:g.8734483_8734485dup, NC_000017.10:g.8734482_8734485dup, NC_000017.10:g.8734481_8734485dup, NC_000017.10:g.8734480_8734485dup, NC_000017.10:g.8734479_8734485dup, NG_033091.1:g.41515_41532del, NG_033091.1:g.41518_41532del, NG_033091.1:g.41520_41532del, NG_033091.1:g.41521_41532del, NG_033091.1:g.41522_41532del, NG_033091.1:g.41523_41532del, NG_033091.1:g.41525_41532del, NG_033091.1:g.41526_41532del, NG_033091.1:g.41527_41532del, NG_033091.1:g.41528_41532del, NG_033091.1:g.41529_41532del, NG_033091.1:g.41530_41532del, NG_033091.1:g.41531_41532del, NG_033091.1:g.41532del, NG_033091.1:g.41532dup, NG_033091.1:g.41531_41532dup, NG_033091.1:g.41530_41532dup, NG_033091.1:g.41529_41532dup, NG_033091.1:g.41528_41532dup, NG_033091.1:g.41527_41532dup, NG_033091.1:g.41526_41532dup

Select item 14914261776.

rs1491426177 has merged into rs35125812 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:8861188 (GRCh38)
17:8764505 (GRCh37)
Canonical SPDI:: NC_000017.11:8861181:AAAAAAAAAAAAAAAAAA:AAAAAA,NC_000017.11:8861181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:8861181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:8861181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:8861181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:8861181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:8861181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:8861181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:8861181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:8861181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:8861181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8861181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8861181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8861181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8861181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8861181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PIK3R6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
-=0.2638/1321 (1000Genomes)
HGVS:: NC_000017.11:g.8861188_8861199del, NC_000017.11:g.8861193_8861199del, NC_000017.11:g.8861194_8861199del, NC_000017.11:g.8861195_8861199del, NC_000017.11:g.8861196_8861199del, NC_000017.11:g.8861197_8861199del, NC_000017.11:g.8861198_8861199del, NC_000017.11:g.8861199del, NC_000017.11:g.8861199dup, NC_000017.11:g.8861198_8861199dup, NC_000017.11:g.8861197_8861199dup, NC_000017.11:g.8861196_8861199dup, NC_000017.11:g.8861195_8861199dup, NC_000017.11:g.8861193_8861199dup, NC_000017.11:g.8861192_8861199dup, NC_000017.11:g.8861188_8861199dup, NC_000017.10:g.8764505_8764516del, NC_000017.10:g.8764510_8764516del, NC_000017.10:g.8764511_8764516del, NC_000017.10:g.8764512_8764516del, NC_000017.10:g.8764513_8764516del, NC_000017.10:g.8764514_8764516del, NC_000017.10:g.8764515_8764516del, NC_000017.10:g.8764516del, NC_000017.10:g.8764516dup, NC_000017.10:g.8764515_8764516dup, NC_000017.10:g.8764514_8764516dup, NC_000017.10:g.8764513_8764516dup, NC_000017.10:g.8764512_8764516dup, NC_000017.10:g.8764510_8764516dup, NC_000017.10:g.8764509_8764516dup, NC_000017.10:g.8764505_8764516dup, NG_033091.1:g.11485_11496del, NG_033091.1:g.11490_11496del, NG_033091.1:g.11491_11496del, NG_033091.1:g.11492_11496del, NG_033091.1:g.11493_11496del, NG_033091.1:g.11494_11496del, NG_033091.1:g.11495_11496del, NG_033091.1:g.11496del, NG_033091.1:g.11496dup, NG_033091.1:g.11495_11496dup, NG_033091.1:g.11494_11496dup, NG_033091.1:g.11493_11496dup, NG_033091.1:g.11492_11496dup, NG_033091.1:g.11490_11496dup, NG_033091.1:g.11489_11496dup, NG_033091.1:g.11485_11496dup

Select item 14914190467.

rs1491419046 has merged into rs71361825 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 17:8819962 (GRCh38)
17:8723280 (GRCh37)
Canonical SPDI:: NC_000017.11:8819955:TTTTTTTTTT:TTTTTT,NC_000017.11:8819955:TTTTTTTTTT:TTTTTTT,NC_000017.11:8819955:TTTTTTTTTT:TTTTTTTT,NC_000017.11:8819955:TTTTTTTTTT:TTTTTTTTT,NC_000017.11:8819955:TTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:8819955:TTTTTTTTTT:TTTTTTTTTTTT
Gene:: PIK3R6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.2/8 (GENOME_DK)
-=0.39257/1966 (1000Genomes)
HGVS:: NC_000017.11:g.8819962_8819965del, NC_000017.11:g.8819963_8819965del, NC_000017.11:g.8819964_8819965del, NC_000017.11:g.8819965del, NC_000017.11:g.8819965dup, NC_000017.11:g.8819964_8819965dup, NC_000017.10:g.8723280_8723283del, NC_000017.10:g.8723281_8723283del, NC_000017.10:g.8723282_8723283del, NC_000017.10:g.8723283del, NC_000017.10:g.8723283dup, NC_000017.10:g.8723282_8723283dup, NG_033091.1:g.52719_52722del, NG_033091.1:g.52720_52722del, NG_033091.1:g.52721_52722del, NG_033091.1:g.52722del, NG_033091.1:g.52722dup, NG_033091.1:g.52721_52722dup

Select item 14913336528.

rs1491333652 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:8861181 (GRCh38)
17:8764498 (GRCh37)
Canonical SPDI:: NC_000017.11:8861180:CA:
Gene:: PIK3R6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000017.11:g.8861181_8861182del, NC_000017.10:g.8764498_8764499del, NG_033091.1:g.11496_11497del

Select item 14913071909.

rs1491307190 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 17:8832400 (GRCh38)
17:8735717 (GRCh37)
Canonical SPDI:: NC_000017.11:8832399:TG:
Gene:: PIK3R6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000084/1 (ALFA)
-=0.000015/2 (GnomAD)
HGVS:: NC_000017.11:g.8832400_8832401del, NC_000017.10:g.8735717_8735718del, NG_033091.1:g.40277_40278del

Select item 149129698210.

rs1491296982 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:8829509 (GRCh38)
17:8732827 (GRCh37)
Canonical SPDI:: NC_000017.11:8829509:T:TT
Gene:: PIK3R6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000019/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.8829510dup, NC_000017.10:g.8732827dup, NG_033091.1:g.43168dup

Select item 149129102611.

rs1491291026 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:8831145 (GRCh38)
17:8734462 (GRCh37)
Canonical SPDI:: NC_000017.11:8831144:CA:
Gene:: PIK3R6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00002/1 (GnomAD)
HGVS:: NC_000017.11:g.8831145_8831146del, NC_000017.10:g.8734462_8734463del, NG_033091.1:g.41532_41533del

Select item 149127982612.

rs1491279826 [Homo sapiens]

Variant type:: SNV:
Alleles:: CT>-
Chromosome:: no mapping
Canonical SPDI:

Select item 149125683513.

rs1491256835 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 17:8864557 (GRCh38)
17:8767875 (GRCh37)
Canonical SPDI:: NC_000017.11:8864557:A:AA
Gene:: PIK3R6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000009/1 (GnomAD)
HGVS:: NC_000017.11:g.8864558dup, NC_000017.10:g.8767875dup, NG_033091.1:g.8120dup

Select item 149113230614.

rs1491132306 has merged into rs372114068 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA [Show Flanks]
Chromosome:: 17:8829226 (GRCh38)
17:8732543 (GRCh37)
Canonical SPDI:: NC_000017.11:8829224:AGAGA:A,NC_000017.11:8829224:AGAGA:AGA
Gene:: PIK3R6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000217/3 (ALFA)
-=0./0 (Korea1K)
-=0.000142/2 (TOMMO)
-=0.00027/1 (TWINSUK)
-=0.001038/4 (ALSPAC)
-=0.00599/30 (1000Genomes)
-=0.010053/2661 (TOPMED)
HGVS:: NC_000017.11:g.8829226_8829229del, NC_000017.11:g.8829226GA[1], NC_000017.10:g.8732543_8732546del, NC_000017.10:g.8732543GA[1], NG_033091.1:g.43450_43453del, NG_033091.1:g.43450CT[1]

Select item 149109885515.

rs1491098855 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 17:8829428 (GRCh38)
17:8732745 (GRCh37)
Canonical SPDI:: NC_000017.11:8829426:CTC:C
Gene:: PIK3R6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0./0 (ALSPAC)
-=0.000022/3 (GnomAD)
-=0.00027/1 (TWINSUK)
HGVS:: NC_000017.11:g.8829428_8829429del, NC_000017.10:g.8732745_8732746del, NG_033091.1:g.43250_43251del

Select item 149107727516.

rs1491077275 has merged into rs10694979 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:8802425 (GRCh38)
17:8705743 (GRCh37)
Canonical SPDI:: NC_000017.11:8802415:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:8802415:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:8802415:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:8802415:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:8802415:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:8802415:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:8802415:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:8802415:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:8802415:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:8802415:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:8802415:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:8802415:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8802415:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8802415:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8802415:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8802415:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8802415:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PIK3R6 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0./0 (GENOME_DK)
-=0.2961/1483 (1000Genomes)
HGVS:: NC_000017.11:g.8802425_8802431del, NC_000017.11:g.8802426_8802431del, NC_000017.11:g.8802427_8802431del, NC_000017.11:g.8802428_8802431del, NC_000017.11:g.8802429_8802431del, NC_000017.11:g.8802430_8802431del, NC_000017.11:g.8802431del, NC_000017.11:g.8802431dup, NC_000017.11:g.8802430_8802431dup, NC_000017.11:g.8802429_8802431dup, NC_000017.11:g.8802428_8802431dup, NC_000017.11:g.8802427_8802431dup, NC_000017.11:g.8802426_8802431dup, NC_000017.11:g.8802425_8802431dup, NC_000017.11:g.8802424_8802431dup, NC_000017.11:g.8802416_8802431dup, NC_000017.11:g.8802431_8802432insAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.8705743_8705749del, NC_000017.10:g.8705744_8705749del, NC_000017.10:g.8705745_8705749del, NC_000017.10:g.8705746_8705749del, NC_000017.10:g.8705747_8705749del, NC_000017.10:g.8705748_8705749del, NC_000017.10:g.8705749del, NC_000017.10:g.8705749dup, NC_000017.10:g.8705748_8705749dup, NC_000017.10:g.8705747_8705749dup, NC_000017.10:g.8705746_8705749dup, NC_000017.10:g.8705745_8705749dup, NC_000017.10:g.8705744_8705749dup, NC_000017.10:g.8705743_8705749dup, NC_000017.10:g.8705742_8705749dup, NC_000017.10:g.8705734_8705749dup, NC_000017.10:g.8705749_8705750insAAAAAAAAAAAAAAAAAAA, NG_033091.1:g.70256_70262del, NG_033091.1:g.70257_70262del, NG_033091.1:g.70258_70262del, NG_033091.1:g.70259_70262del, NG_033091.1:g.70260_70262del, NG_033091.1:g.70261_70262del, NG_033091.1:g.70262del, NG_033091.1:g.70262dup, NG_033091.1:g.70261_70262dup, NG_033091.1:g.70260_70262dup, NG_033091.1:g.70259_70262dup, NG_033091.1:g.70258_70262dup, NG_033091.1:g.70257_70262dup, NG_033091.1:g.70256_70262dup, NG_033091.1:g.70255_70262dup, NG_033091.1:g.70247_70262dup, NG_033091.1:g.70262_70263insTTTTTTTTTTTTTTTTTTT

Select item 149103178817.

rs1491031788 has merged into rs60650147 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:8831339 (GRCh38)
17:8734656 (GRCh37)
Canonical SPDI:: NC_000017.11:8831328:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:8831328:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:8831328:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:8831328:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:8831328:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:8831328:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:8831328:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:8831328:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:8831328:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8831328:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8831328:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8831328:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8831328:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8831328:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8831328:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8831328:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8831328:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8831328:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8831328:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8831328:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8831328:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8831328:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8831328:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8831328:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8831328:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8831328:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8831328:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PIK3R6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.8831339_8831354del, NC_000017.11:g.8831342_8831354del, NC_000017.11:g.8831343_8831354del, NC_000017.11:g.8831345_8831354del, NC_000017.11:g.8831346_8831354del, NC_000017.11:g.8831347_8831354del, NC_000017.11:g.8831348_8831354del, NC_000017.11:g.8831349_8831354del, NC_000017.11:g.8831350_8831354del, NC_000017.11:g.8831351_8831354del, NC_000017.11:g.8831352_8831354del, NC_000017.11:g.8831353_8831354del, NC_000017.11:g.8831354del, NC_000017.11:g.8831354dup, NC_000017.11:g.8831353_8831354dup, NC_000017.11:g.8831352_8831354dup, NC_000017.11:g.8831351_8831354dup, NC_000017.11:g.8831350_8831354dup, NC_000017.11:g.8831349_8831354dup, NC_000017.11:g.8831348_8831354dup, NC_000017.11:g.8831347_8831354dup, NC_000017.11:g.8831345_8831354dup, NC_000017.11:g.8831344_8831354dup, NC_000017.11:g.8831343_8831354dup, NC_000017.11:g.8831342_8831354dup, NC_000017.11:g.8831341_8831354dup, NC_000017.11:g.8831340_8831354dup, NC_000017.10:g.8734656_8734671del, NC_000017.10:g.8734659_8734671del, NC_000017.10:g.8734660_8734671del, NC_000017.10:g.8734662_8734671del, NC_000017.10:g.8734663_8734671del, NC_000017.10:g.8734664_8734671del, NC_000017.10:g.8734665_8734671del, NC_000017.10:g.8734666_8734671del, NC_000017.10:g.8734667_8734671del, NC_000017.10:g.8734668_8734671del, NC_000017.10:g.8734669_8734671del, NC_000017.10:g.8734670_8734671del, NC_000017.10:g.8734671del, NC_000017.10:g.8734671dup, NC_000017.10:g.8734670_8734671dup, NC_000017.10:g.8734669_8734671dup, NC_000017.10:g.8734668_8734671dup, NC_000017.10:g.8734667_8734671dup, NC_000017.10:g.8734666_8734671dup, NC_000017.10:g.8734665_8734671dup, NC_000017.10:g.8734664_8734671dup, NC_000017.10:g.8734662_8734671dup, NC_000017.10:g.8734661_8734671dup, NC_000017.10:g.8734660_8734671dup, NC_000017.10:g.8734659_8734671dup, NC_000017.10:g.8734658_8734671dup, NC_000017.10:g.8734657_8734671dup, NG_033091.1:g.41334_41349del, NG_033091.1:g.41337_41349del, NG_033091.1:g.41338_41349del, NG_033091.1:g.41340_41349del, NG_033091.1:g.41341_41349del, NG_033091.1:g.41342_41349del, NG_033091.1:g.41343_41349del, NG_033091.1:g.41344_41349del, NG_033091.1:g.41345_41349del, NG_033091.1:g.41346_41349del, NG_033091.1:g.41347_41349del, NG_033091.1:g.41348_41349del, NG_033091.1:g.41349del, NG_033091.1:g.41349dup, NG_033091.1:g.41348_41349dup, NG_033091.1:g.41347_41349dup, NG_033091.1:g.41346_41349dup, NG_033091.1:g.41345_41349dup, NG_033091.1:g.41344_41349dup, NG_033091.1:g.41343_41349dup, NG_033091.1:g.41342_41349dup, NG_033091.1:g.41340_41349dup, NG_033091.1:g.41339_41349dup, NG_033091.1:g.41338_41349dup, NG_033091.1:g.41337_41349dup, NG_033091.1:g.41336_41349dup, NG_033091.1:g.41335_41349dup

Select item 149102032718.

rs1491020327 has merged into rs1555532931 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAC>-,AC,ACACACAC [Show Flanks]
Chromosome:: 17:8829197 (GRCh38)
17:8732514 (GRCh37)
Canonical SPDI:: NC_000017.11:8829192:ACACACAC:ACAC,NC_000017.11:8829192:ACACACAC:ACACAC,NC_000017.11:8829192:ACACACAC:ACACACACACAC
Gene:: PIK3R6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACAC=0./0 (ALFA)
HGVS:: NC_000017.11:g.8829193AC[2], NC_000017.11:g.8829193AC[3], NC_000017.11:g.8829193AC[6], NC_000017.10:g.8732510AC[2], NC_000017.10:g.8732510AC[3], NC_000017.10:g.8732510AC[6], NG_033091.1:g.43478GT[2], NG_033091.1:g.43478GT[3], NG_033091.1:g.43478GT[6]

Select item 149101626919.

rs1491016269 has merged into rs34620144 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 17:8852750 (GRCh38)
17:8756067 (GRCh37)
Canonical SPDI:: NC_000017.11:8852738:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:8852738:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:8852738:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:8852738:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:8852738:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:8852738:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:8852738:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:8852738:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:8852738:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:8852738:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:8852738:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: PIK3R6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AA=0.2794/138 (NorthernSweden)
AA=0.375/15 (GENOME_DK)
HGVS:: NC_000017.11:g.8852750_8852753del, NC_000017.11:g.8852751_8852753del, NC_000017.11:g.8852752_8852753del, NC_000017.11:g.8852753del, NC_000017.11:g.8852753dup, NC_000017.11:g.8852752_8852753dup, NC_000017.11:g.8852751_8852753dup, NC_000017.11:g.8852750_8852753dup, NC_000017.11:g.8852749_8852753dup, NC_000017.11:g.8852748_8852753dup, NC_000017.11:g.8852747_8852753dup, NC_000017.10:g.8756067_8756070del, NC_000017.10:g.8756068_8756070del, NC_000017.10:g.8756069_8756070del, NC_000017.10:g.8756070del, NC_000017.10:g.8756070dup, NC_000017.10:g.8756069_8756070dup, NC_000017.10:g.8756068_8756070dup, NC_000017.10:g.8756067_8756070dup, NC_000017.10:g.8756066_8756070dup, NC_000017.10:g.8756065_8756070dup, NC_000017.10:g.8756064_8756070dup, NG_033091.1:g.19936_19939del, NG_033091.1:g.19937_19939del, NG_033091.1:g.19938_19939del, NG_033091.1:g.19939del, NG_033091.1:g.19939dup, NG_033091.1:g.19938_19939dup, NG_033091.1:g.19937_19939dup, NG_033091.1:g.19936_19939dup, NG_033091.1:g.19935_19939dup, NG_033091.1:g.19934_19939dup, NG_033091.1:g.19933_19939dup

Select item 149101331920.

rs1491013319 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 17:8829266 (GRCh38)
17:8732583 (GRCh37)
Canonical SPDI:: NC_000017.11:8829264:AGA:A
Gene:: PIK3R6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
-=0.000022/3 (GnomAD)
-=0.000023/6 (TOPMED)
HGVS:: NC_000017.11:g.8829266_8829267del, NC_000017.10:g.8732583_8732584del, NG_033091.1:g.43412_43413del

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