SNP Links for Gene (Select 55252) - SNP

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Select item 14915829941.

rs1491582994 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 2:25856362 (GRCh38)
2:26079231 (GRCh37)
Canonical SPDI:: NC_000002.12:25856361:AC:
Gene:: ASXL2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.25856362_25856363del, NC_000002.11:g.26079231_26079232del, NG_052995.1:g.27154_27155del

Select item 14915672542.

rs1491567254 [Homo sapiens]

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

Select item 14915560543.

rs1491556054 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:25865774 (GRCh38)
2:26088643 (GRCh37)
Canonical SPDI:: NC_000002.12:25865773:CA:
Gene:: ASXL2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00008/2 (TOMMO)
HGVS:: NC_000002.12:g.25865774_25865775del, NC_000002.11:g.26088643_26088644del, NG_052995.1:g.17742_17743del

Select item 14915372384.

rs1491537238 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:25794912 (GRCh38)
2:26017781 (GRCh37)
Canonical SPDI:: NC_000002.12:25794911:AT:
Gene:: ASXL2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.25794912_25794913del, NC_000002.11:g.26017781_26017782del, NG_052995.1:g.88604_88605del

Select item 14914787905.

rs1491478790 has merged into rs11312322 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:25746518 (GRCh38)
2:25969387 (GRCh37)
Canonical SPDI:: NC_000002.12:25746506:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:25746506:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:25746506:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:25746506:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:25746506:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:25746506:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:25746506:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:25746506:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:25746506:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ASXL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.0376/145 (ALSPAC)
A=0.4291/2149 (1000Genomes)
HGVS:: NC_000002.12:g.25746518_25746520del, NC_000002.12:g.25746519_25746520del, NC_000002.12:g.25746520del, NC_000002.12:g.25746520dup, NC_000002.12:g.25746519_25746520dup, NC_000002.12:g.25746516_25746520dup, NC_000002.12:g.25746512_25746520dup, NC_000002.12:g.25746520_25746521insAAAAAAAAAAAAAAA, NC_000002.12:g.25746507_25746520A[15]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.11:g.25969387_25969389del, NC_000002.11:g.25969388_25969389del, NC_000002.11:g.25969389del, NC_000002.11:g.25969389dup, NC_000002.11:g.25969388_25969389dup, NC_000002.11:g.25969385_25969389dup, NC_000002.11:g.25969381_25969389dup, NC_000002.11:g.25969389_25969390insAAAAAAAAAAAAAAA, NC_000002.11:g.25969376_25969389A[15]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_052995.1:g.137008_137010del, NG_052995.1:g.137009_137010del, NG_052995.1:g.137010del, NG_052995.1:g.137010dup, NG_052995.1:g.137009_137010dup, NG_052995.1:g.137006_137010dup, NG_052995.1:g.137002_137010dup, NG_052995.1:g.137010_137011insTTTTTTTTTTTTTTT, NG_052995.1:g.136997_137010T[48]ATTTTTTTTTTTTTTT[1]

Select item 14914699156.

rs1491469915 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:25786978 (GRCh38)
2:26009848 (GRCh37)
Canonical SPDI:: NC_000002.12:25786978:C:CC
Gene:: ASXL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.00002/2 (GnomAD)
HGVS:: NC_000002.12:g.25786979dup, NC_000002.11:g.26009848dup, NG_052995.1:g.96538dup

Select item 14914669957.

rs1491466995 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:25812164 (GRCh38)
2:26035034 (GRCh37)
Canonical SPDI:: NC_000002.12:25812164::G
Gene:: ASXL2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00003/2 (GnomAD)
HGVS:: NC_000002.12:g.25812164_25812165insG, NC_000002.11:g.26035033_26035034insG, NG_052995.1:g.71352_71353insC

Select item 14914475808.

rs1491447580 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:25767364 (GRCh38)
2:25990234 (GRCh37)
Canonical SPDI:: NC_000002.12:25767364:GGGG:GGGGG
Gene:: ASXL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
G=0.000026/7 (TOPMED)
G=0.000036/5 (GnomAD)
HGVS:: NC_000002.12:g.25767368dup, NC_000002.11:g.25990237dup, NG_052995.1:g.116152dup

Select item 14913871519.

rs1491387151 has merged into rs757850341 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 2:25791500 (GRCh38)
2:26014369 (GRCh37)
Canonical SPDI:: NC_000002.12:25791487:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:25791487:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:25791487:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:25791487:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:25791487:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:25791487:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:25791487:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:25791487:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: ASXL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.35/14 (GENOME_DK)
HGVS:: NC_000002.12:g.25791500_25791502del, NC_000002.12:g.25791501_25791502del, NC_000002.12:g.25791502del, NC_000002.12:g.25791502dup, NC_000002.12:g.25791501_25791502dup, NC_000002.12:g.25791500_25791502dup, NC_000002.12:g.25791498_25791502dup, NC_000002.12:g.25791495_25791502dup, NC_000002.11:g.26014369_26014371del, NC_000002.11:g.26014370_26014371del, NC_000002.11:g.26014371del, NC_000002.11:g.26014371dup, NC_000002.11:g.26014370_26014371dup, NC_000002.11:g.26014369_26014371dup, NC_000002.11:g.26014367_26014371dup, NC_000002.11:g.26014364_26014371dup, NG_052995.1:g.92027_92029del, NG_052995.1:g.92028_92029del, NG_052995.1:g.92029del, NG_052995.1:g.92029dup, NG_052995.1:g.92028_92029dup, NG_052995.1:g.92027_92029dup, NG_052995.1:g.92025_92029dup, NG_052995.1:g.92022_92029dup

Select item 149138232010.

rs1491382320 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 2:25746506 (GRCh38)
2:25969375 (GRCh37)
Canonical SPDI:: NC_000002.12:25746505:GA:
Gene:: ASXL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.0002/8 (GnomAD)
HGVS:: NC_000002.12:g.25746506_25746507del, NC_000002.11:g.25969375_25969376del, NG_052995.1:g.137010_137011del

Select item 149137123911.

rs1491371239 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTAG [Show Flanks]
Chromosome:: 2:25853297 (GRCh38)
2:26076167 (GRCh37)
Canonical SPDI:: NC_000002.12:25853297:TTAG:TTAGTTAG
Gene:: ASXL2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTAGTTAG=0./0 (ALFA)
TTAG=0.000007/1 (GnomAD)
TTAG=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.25853298_25853301dup, NC_000002.11:g.26076167_26076170dup, NG_052995.1:g.30216_30219dup

Select item 149135685612.

rs1491356856 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 2:25767364 (GRCh38)
2:25990233 (GRCh37)
Canonical SPDI:: NC_000002.12:25767363:AG:
Gene:: ASXL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000029/4 (GnomAD)
-=0.000068/18 (TOPMED)
HGVS:: NC_000002.12:g.25767364_25767365del, NC_000002.11:g.25990233_25990234del, NG_052995.1:g.116152_116153del

Select item 149134858213.

rs1491348582 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 2:25779107 (GRCh38)
2:26001976 (GRCh37)
Canonical SPDI:: NC_000002.12:25779106:TG:
Gene:: ASXL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.019558/232 (ALFA)
-=0.000619/69 (GnomAD)
HGVS:: NC_000002.12:g.25779107_25779108del, NC_000002.11:g.26001976_26001977del, NG_052995.1:g.104409_104410del

Select item 149130854214.

rs1491308542 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 2:25779086 (GRCh38)
2:26001956 (GRCh37)
Canonical SPDI:: NC_000002.12:25779086:T:TAT
Gene:: ASXL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAT=0./0 (ALFA)
TA=0.00002/1 (GnomAD)
HGVS:: NC_000002.12:g.25779087_25779088insAT, NC_000002.11:g.26001956_26001957insAT, NG_052995.1:g.104430_104431insTA

Select item 149130581715.

rs1491305817 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,G [Show Flanks]
Chromosome:: 2:25756466 (GRCh38)
2:25979336 (GRCh37)
Canonical SPDI:: NC_000002.12:25756466::C,NC_000002.12:25756466::G
Gene:: ASXL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00391/44 (ALFA)
G=0.06877/5055 (GnomAD)
HGVS:: NC_000002.12:g.25756466_25756467insC, NC_000002.12:g.25756466_25756467insG, NC_000002.11:g.25979335_25979336insC, NC_000002.11:g.25979335_25979336insG, NG_052995.1:g.127050_127051insG, NG_052995.1:g.127050_127051insC

Select item 149128924916.

rs1491289249 has merged into rs60065368 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:25762674 (GRCh38)
2:25985543 (GRCh37)
Canonical SPDI:: NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ASXL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.25762674_25762689del, NC_000002.12:g.25762675_25762689del, NC_000002.12:g.25762676_25762689del, NC_000002.12:g.25762677_25762689del, NC_000002.12:g.25762678_25762689del, NC_000002.12:g.25762679_25762689del, NC_000002.12:g.25762680_25762689del, NC_000002.12:g.25762681_25762689del, NC_000002.12:g.25762682_25762689del, NC_000002.12:g.25762683_25762689del, NC_000002.12:g.25762684_25762689del, NC_000002.12:g.25762685_25762689del, NC_000002.12:g.25762687_25762689del, NC_000002.12:g.25762688_25762689del, NC_000002.12:g.25762689del, NC_000002.12:g.25762689dup, NC_000002.12:g.25762688_25762689dup, NC_000002.12:g.25762687_25762689dup, NC_000002.12:g.25762686_25762689dup, NC_000002.12:g.25762685_25762689dup, NC_000002.12:g.25762684_25762689dup, NC_000002.12:g.25762683_25762689dup, NC_000002.12:g.25762682_25762689dup, NC_000002.12:g.25762681_25762689dup, NC_000002.12:g.25762680_25762689dup, NC_000002.12:g.25762679_25762689dup, NC_000002.12:g.25762678_25762689dup, NC_000002.12:g.25762677_25762689dup, NC_000002.12:g.25762676_25762689dup, NC_000002.12:g.25762675_25762689dup, NC_000002.12:g.25762674_25762689dup, NC_000002.12:g.25762673_25762689dup, NC_000002.12:g.25762672_25762689dup, NC_000002.12:g.25762671_25762689dup, NC_000002.12:g.25762668_25762689dup, NC_000002.12:g.25762667_25762689dup, NC_000002.12:g.25762689_25762690insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.25762689_25762690insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.25762689_25762690insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.25762689_25762690insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.25985543_25985558del, NC_000002.11:g.25985544_25985558del, NC_000002.11:g.25985545_25985558del, NC_000002.11:g.25985546_25985558del, NC_000002.11:g.25985547_25985558del, NC_000002.11:g.25985548_25985558del, NC_000002.11:g.25985549_25985558del, NC_000002.11:g.25985550_25985558del, NC_000002.11:g.25985551_25985558del, NC_000002.11:g.25985552_25985558del, NC_000002.11:g.25985553_25985558del, NC_000002.11:g.25985554_25985558del, NC_000002.11:g.25985556_25985558del, NC_000002.11:g.25985557_25985558del, NC_000002.11:g.25985558del, NC_000002.11:g.25985558dup, NC_000002.11:g.25985557_25985558dup, NC_000002.11:g.25985556_25985558dup, NC_000002.11:g.25985555_25985558dup, NC_000002.11:g.25985554_25985558dup, NC_000002.11:g.25985553_25985558dup, NC_000002.11:g.25985552_25985558dup, NC_000002.11:g.25985551_25985558dup, NC_000002.11:g.25985550_25985558dup, NC_000002.11:g.25985549_25985558dup, NC_000002.11:g.25985548_25985558dup, NC_000002.11:g.25985547_25985558dup, NC_000002.11:g.25985546_25985558dup, NC_000002.11:g.25985545_25985558dup, NC_000002.11:g.25985544_25985558dup, NC_000002.11:g.25985543_25985558dup, NC_000002.11:g.25985542_25985558dup, NC_000002.11:g.25985541_25985558dup, NC_000002.11:g.25985540_25985558dup, NC_000002.11:g.25985537_25985558dup, NC_000002.11:g.25985536_25985558dup, NC_000002.11:g.25985558_25985559insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.25985558_25985559insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.25985558_25985559insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.25985558_25985559insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_052995.1:g.120836_120851del, NG_052995.1:g.120837_120851del, NG_052995.1:g.120838_120851del, NG_052995.1:g.120839_120851del, NG_052995.1:g.120840_120851del, NG_052995.1:g.120841_120851del, NG_052995.1:g.120842_120851del, NG_052995.1:g.120843_120851del, NG_052995.1:g.120844_120851del, NG_052995.1:g.120845_120851del, NG_052995.1:g.120846_120851del, NG_052995.1:g.120847_120851del, NG_052995.1:g.120849_120851del, NG_052995.1:g.120850_120851del, NG_052995.1:g.120851del, NG_052995.1:g.120851dup, NG_052995.1:g.120850_120851dup, NG_052995.1:g.120849_120851dup, NG_052995.1:g.120848_120851dup, NG_052995.1:g.120847_120851dup, NG_052995.1:g.120846_120851dup, NG_052995.1:g.120845_120851dup, NG_052995.1:g.120844_120851dup, NG_052995.1:g.120843_120851dup, NG_052995.1:g.120842_120851dup, NG_052995.1:g.120841_120851dup, NG_052995.1:g.120840_120851dup, NG_052995.1:g.120839_120851dup, NG_052995.1:g.120838_120851dup, NG_052995.1:g.120837_120851dup, NG_052995.1:g.120836_120851dup, NG_052995.1:g.120835_120851dup, NG_052995.1:g.120834_120851dup, NG_052995.1:g.120833_120851dup, NG_052995.1:g.120830_120851dup, NG_052995.1:g.120829_120851dup, NG_052995.1:g.120851_120852insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_052995.1:g.120851_120852insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_052995.1:g.120851_120852insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_052995.1:g.120851_120852insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149128906117.

rs1491289061 has merged into rs71399321 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:25756468 (GRCh38)
2:25979337 (GRCh37)
Canonical SPDI:: NC_000002.12:25756465:AAAAAAAAAA:AA,NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAA,NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAA,NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ASXL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.061749/113 (Korea1K)
-=0.252396/1264 (1000Genomes)
-=0.275/11 (GENOME_DK)
-=0.346693/346 (GoNL)
HGVS:: NC_000002.12:g.25756468_25756475del, NC_000002.12:g.25756474_25756475del, NC_000002.12:g.25756475del, NC_000002.12:g.25756475dup, NC_000002.12:g.25756473_25756475dup, NC_000002.12:g.25756475_25756476insAAAAAAAAAAAA, NC_000002.12:g.25756475_25756476insAAAAAAAAAAAAA, NC_000002.12:g.25756475_25756476insAAAAAAAAAAAAAA, NC_000002.12:g.25756475_25756476insAAAAAAAAAAAAAAA, NC_000002.12:g.25756475_25756476insAAAAAAAAAAAAAAAA, NC_000002.12:g.25756475_25756476insAAAAAAAAAAAAAAAAA, NC_000002.12:g.25756475_25756476insAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.25756475_25756476insAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.25756475_25756476insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.25756475_25756476insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.25756475_25756476insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.25756475_25756476insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.25756466_25756475A[14]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.11:g.25979337_25979344del, NC_000002.11:g.25979343_25979344del, NC_000002.11:g.25979344del, NC_000002.11:g.25979344dup, NC_000002.11:g.25979342_25979344dup, NC_000002.11:g.25979344_25979345insAAAAAAAAAAAA, NC_000002.11:g.25979344_25979345insAAAAAAAAAAAAA, NC_000002.11:g.25979344_25979345insAAAAAAAAAAAAAA, NC_000002.11:g.25979344_25979345insAAAAAAAAAAAAAAA, NC_000002.11:g.25979344_25979345insAAAAAAAAAAAAAAAA, NC_000002.11:g.25979344_25979345insAAAAAAAAAAAAAAAAA, NC_000002.11:g.25979344_25979345insAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.25979344_25979345insAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.25979344_25979345insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.25979344_25979345insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.25979344_25979345insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.25979344_25979345insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.25979335_25979344A[14]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_052995.1:g.127044_127051del, NG_052995.1:g.127050_127051del, NG_052995.1:g.127051del, NG_052995.1:g.127051dup, NG_052995.1:g.127049_127051dup, NG_052995.1:g.127051_127052insTTTTTTTTTTTT, NG_052995.1:g.127051_127052insTTTTTTTTTTTTT, NG_052995.1:g.127051_127052insTTTTTTTTTTTTTT, NG_052995.1:g.127051_127052insTTTTTTTTTTTTTTT, NG_052995.1:g.127051_127052insTTTTTTTTTTTTTTTT, NG_052995.1:g.127051_127052insTTTTTTTTTTTTTTTTT, NG_052995.1:g.127051_127052insTTTTTTTTTTTTTTTTTTT, NG_052995.1:g.127051_127052insTTTTTTTTTTTTTTTTTTTT, NG_052995.1:g.127051_127052insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_052995.1:g.127051_127052insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_052995.1:g.127051_127052insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_052995.1:g.127051_127052insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_052995.1:g.127042_127051T[32]GTTTTTTTTTTTTTT[1]

Select item 149128692318.

rs1491286923 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCAC,CCACAC [Show Flanks]
Chromosome:: 2:25744935 (GRCh38)
2:25967805 (GRCh37)
Canonical SPDI:: NC_000002.12:25744935:C:CCCAC,NC_000002.12:25744935:C:CCCACAC
Gene:: ASXL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCACAC=0./0 (ALFA)
HGVS:: NC_000002.12:g.25744936_25744937insCCAC, NC_000002.12:g.25744936_25744937insCCACAC, NC_000002.11:g.25967805_25967806insCCAC, NC_000002.11:g.25967805_25967806insCCACAC, NG_052995.1:g.138581_138582insTGGG, NG_052995.1:g.138581GT[2]GGG[1]

Select item 149127642219.

rs1491276422 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:25864567 (GRCh38)
2:26087437 (GRCh37)
Canonical SPDI:: NC_000002.12:25864567:T:TT
Gene:: ASXL2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000002.12:g.25864568dup, NC_000002.11:g.26087437dup, NG_052995.1:g.18949dup

Select item 149126344620.

rs1491263446 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 2:25762666 (GRCh38)
2:25985536 (GRCh37)
Canonical SPDI:: NC_000002.12:25762666:A:AGA
Gene:: ASXL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGA=0./0 (ALFA)
HGVS:: NC_000002.12:g.25762667_25762668insGA, NC_000002.11:g.25985536_25985537insGA, NG_052995.1:g.120850_120851insCT

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