SNP Links for Gene (Select 9070) - SNP

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Select item 14914617661.

rs1491461766 has merged into rs765233898 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT [Show Flanks]
Chromosome:: 8:38107906 (GRCh38)
8:37965424 (GRCh37)
Canonical SPDI:: NC_000008.11:38107904:TATAT:T,NC_000008.11:38107904:TATAT:TAT,NC_000008.11:38107904:TATAT:TATATAT
Gene:: ASH2L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAT=0./0 (ALFA)
-=0.16139/622 (ALSPAC)
-=0.18662/692 (TWINSUK)
HGVS:: NC_000008.11:g.38107906_38107909del, NC_000008.11:g.38107906AT[1], NC_000008.11:g.38107906AT[3], NC_000008.10:g.37965424_37965427del, NC_000008.10:g.37965424AT[1], NC_000008.10:g.37965424AT[3]

Select item 14914537012.

rs1491453701 has merged into rs35487001 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 8:38127177 (GRCh38)
8:37984695 (GRCh37)
Canonical SPDI:: NC_000008.11:38127165:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:38127165:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:38127165:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:38127165:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:38127165:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:38127165:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:38127165:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: ASH2L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0./0 (ALSPAC)
-=0./0 (TWINSUK)
-=0.1234/618 (1000Genomes)
-=0.3/12 (GENOME_DK)
HGVS:: NC_000008.11:g.38127177_38127179del, NC_000008.11:g.38127178_38127179del, NC_000008.11:g.38127179del, NC_000008.11:g.38127179dup, NC_000008.11:g.38127178_38127179dup, NC_000008.11:g.38127177_38127179dup, NC_000008.11:g.38127175_38127179dup, NC_000008.10:g.37984695_37984697del, NC_000008.10:g.37984696_37984697del, NC_000008.10:g.37984697del, NC_000008.10:g.37984697dup, NC_000008.10:g.37984696_37984697dup, NC_000008.10:g.37984695_37984697dup, NC_000008.10:g.37984693_37984697dup

Select item 14914268483.

rs1491426848 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 8:38127166 (GRCh38)
8:37984685 (GRCh37)
Canonical SPDI:: NC_000008.11:38127166::T
Gene:: ASH2L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.11905/5 (GnomAD)
HGVS:: NC_000008.11:g.38127166_38127167insT, NC_000008.10:g.37984684_37984685insT

Select item 14913364974.

rs1491336497 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 8:38137390 (GRCh38)
8:37994909 (GRCh37)
Canonical SPDI:: NC_000008.11:38137390::G
Gene:: ASH2L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00143/17 (ALFA)
G=0.16102/152 (GnomAD)
HGVS:: NC_000008.11:g.38137390_38137391insG, NC_000008.10:g.37994908_37994909insG

Select item 14912791595.

rs1491279159 has merged into rs71216651 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:38137394 (GRCh38)
8:37994912 (GRCh37)
Canonical SPDI:: NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAA,NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAA,NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAA,NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAA,NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAA,NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ASH2L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
HGVS:: NC_000008.11:g.38137394_38137405del, NC_000008.11:g.38137395_38137405del, NC_000008.11:g.38137396_38137405del, NC_000008.11:g.38137397_38137405del, NC_000008.11:g.38137398_38137405del, NC_000008.11:g.38137399_38137405del, NC_000008.11:g.38137400_38137405del, NC_000008.11:g.38137401_38137405del, NC_000008.11:g.38137403_38137405del, NC_000008.11:g.38137404_38137405del, NC_000008.11:g.38137405del, NC_000008.11:g.38137405dup, NC_000008.11:g.38137404_38137405dup, NC_000008.11:g.38137403_38137405dup, NC_000008.11:g.38137401_38137405dup, NC_000008.11:g.38137399_38137405dup, NC_000008.11:g.38137398_38137405dup, NC_000008.11:g.38137397_38137405dup, NC_000008.11:g.38137396_38137405dup, NC_000008.11:g.38137395_38137405dup, NC_000008.11:g.38137394_38137405dup, NC_000008.11:g.38137393_38137405dup, NC_000008.11:g.38137392_38137405dup, NC_000008.11:g.38137391_38137405dup, NC_000008.10:g.37994912_37994923del, NC_000008.10:g.37994913_37994923del, NC_000008.10:g.37994914_37994923del, NC_000008.10:g.37994915_37994923del, NC_000008.10:g.37994916_37994923del, NC_000008.10:g.37994917_37994923del, NC_000008.10:g.37994918_37994923del, NC_000008.10:g.37994919_37994923del, NC_000008.10:g.37994921_37994923del, NC_000008.10:g.37994922_37994923del, NC_000008.10:g.37994923del, NC_000008.10:g.37994923dup, NC_000008.10:g.37994922_37994923dup, NC_000008.10:g.37994921_37994923dup, NC_000008.10:g.37994919_37994923dup, NC_000008.10:g.37994917_37994923dup, NC_000008.10:g.37994916_37994923dup, NC_000008.10:g.37994915_37994923dup, NC_000008.10:g.37994914_37994923dup, NC_000008.10:g.37994913_37994923dup, NC_000008.10:g.37994912_37994923dup, NC_000008.10:g.37994911_37994923dup, NC_000008.10:g.37994910_37994923dup, NC_000008.10:g.37994909_37994923dup

Select item 14912417036.

rs1491241703 has merged into rs11304330 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 8:38125620 (GRCh38)
8:37983138 (GRCh37)
Canonical SPDI:: NC_000008.11:38125608:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:38125608:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:38125608:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:38125608:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:38125608:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:38125608:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:38125608:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:38125608:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: ASH2L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0.0047/21 (ALFA)
AA=0.2758/1381 (1000Genomes)
HGVS:: NC_000008.11:g.38125620_38125623del, NC_000008.11:g.38125621_38125623del, NC_000008.11:g.38125622_38125623del, NC_000008.11:g.38125623del, NC_000008.11:g.38125623dup, NC_000008.11:g.38125622_38125623dup, NC_000008.11:g.38125621_38125623dup, NC_000008.11:g.38125617_38125623dup, NC_000008.10:g.37983138_37983141del, NC_000008.10:g.37983139_37983141del, NC_000008.10:g.37983140_37983141del, NC_000008.10:g.37983141del, NC_000008.10:g.37983141dup, NC_000008.10:g.37983140_37983141dup, NC_000008.10:g.37983139_37983141dup, NC_000008.10:g.37983135_37983141dup

Select item 14912123037.

rs1491212303 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:38125608 (GRCh38)
8:37983126 (GRCh37)
Canonical SPDI:: NC_000008.11:38125607:CA:
Gene:: ASH2L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.38125608_38125609del, NC_000008.10:g.37983126_37983127del

Select item 14911436188.

rs1491143618 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:38140350 (GRCh38)
8:37997868 (GRCh37)
Canonical SPDI:: NC_000008.11:38140349:CA:
Gene:: ASH2L (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.38140350_38140351del, NC_000008.10:g.37997868_37997869del

Select item 14911322179.

rs1491132217 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 8:38106131 (GRCh38)
8:37963649 (GRCh37)
Canonical SPDI:: NC_000008.11:38106128:CTCT:CT
Gene:: ASH2L (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
HGVS:: NC_000008.11:g.38106129CT[1], NC_000008.10:g.37963647CT[1], XM_005273683.2:c.-105CT[1], XM_005273683.1:c.-105CT[1], NM_001105214.2:c.-105CT[1], NM_001261832.1:c.-105CT[1]

Select item 149111419610.

rs1491114196 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 8:38136103 (GRCh38)
8:37993622 (GRCh37)
Canonical SPDI:: NC_000008.11:38136103::A
Gene:: ASH2L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000008.11:g.38136103_38136104insA, NC_000008.10:g.37993621_37993622insA

Select item 149108290611.

rs1491082906 has merged into rs59410420 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:38123093 (GRCh38)
8:37980611 (GRCh37)
Canonical SPDI:: NC_000008.11:38123082:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:38123082:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:38123082:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:38123082:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:38123082:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:38123082:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:38123082:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:38123082:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:38123082:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:38123082:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:38123082:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:38123082:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:38123082:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:38123082:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:38123082:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:38123082:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:38123082:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:38123082:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ASH2L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000008.11:g.38123093_38123102del, NC_000008.11:g.38123094_38123102del, NC_000008.11:g.38123096_38123102del, NC_000008.11:g.38123097_38123102del, NC_000008.11:g.38123099_38123102del, NC_000008.11:g.38123100_38123102del, NC_000008.11:g.38123101_38123102del, NC_000008.11:g.38123102del, NC_000008.11:g.38123102dup, NC_000008.11:g.38123101_38123102dup, NC_000008.11:g.38123100_38123102dup, NC_000008.11:g.38123099_38123102dup, NC_000008.11:g.38123098_38123102dup, NC_000008.11:g.38123097_38123102dup, NC_000008.11:g.38123096_38123102dup, NC_000008.11:g.38123095_38123102dup, NC_000008.11:g.38123094_38123102dup, NC_000008.11:g.38123093_38123102dup, NC_000008.10:g.37980611_37980620del, NC_000008.10:g.37980612_37980620del, NC_000008.10:g.37980614_37980620del, NC_000008.10:g.37980615_37980620del, NC_000008.10:g.37980617_37980620del, NC_000008.10:g.37980618_37980620del, NC_000008.10:g.37980619_37980620del, NC_000008.10:g.37980620del, NC_000008.10:g.37980620dup, NC_000008.10:g.37980619_37980620dup, NC_000008.10:g.37980618_37980620dup, NC_000008.10:g.37980617_37980620dup, NC_000008.10:g.37980616_37980620dup, NC_000008.10:g.37980615_37980620dup, NC_000008.10:g.37980614_37980620dup, NC_000008.10:g.37980613_37980620dup, NC_000008.10:g.37980612_37980620dup, NC_000008.10:g.37980611_37980620dup

Select item 149106032812.

rs1491060328 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 8:38106507 (GRCh38)
8:37964026 (GRCh37)
Canonical SPDI:: NC_000008.11:38106507:T:TCT
Gene:: ASH2L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0.000759/9 (ALFA)
TC=0.00177/203 (GnomAD)
TC=0.003435/22 (1000Genomes)
TC=0.018/225 (GoESP)
HGVS:: NC_000008.11:g.38106508_38106509insCT, NC_000008.10:g.37964026_37964027insCT

Select item 149105522613.

rs1491055226 has merged into rs35672119 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:38140359 (GRCh38)
8:37997877 (GRCh37)
Canonical SPDI:: NC_000008.11:38140350:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000008.11:38140350:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000008.11:38140350:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:38140350:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:38140350:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:38140350:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:38140350:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:38140350:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:38140350:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:38140350:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:38140350:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:38140350:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:38140350:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:38140350:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:38140350:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:38140350:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:38140350:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:38140350:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ASH2L (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000008.11:g.38140359_38140370del, NC_000008.11:g.38140360_38140370del, NC_000008.11:g.38140361_38140370del, NC_000008.11:g.38140363_38140370del, NC_000008.11:g.38140364_38140370del, NC_000008.11:g.38140365_38140370del, NC_000008.11:g.38140366_38140370del, NC_000008.11:g.38140367_38140370del, NC_000008.11:g.38140368_38140370del, NC_000008.11:g.38140369_38140370del, NC_000008.11:g.38140370del, NC_000008.11:g.38140370dup, NC_000008.11:g.38140369_38140370dup, NC_000008.11:g.38140368_38140370dup, NC_000008.11:g.38140367_38140370dup, NC_000008.11:g.38140366_38140370dup, NC_000008.11:g.38140364_38140370dup, NC_000008.11:g.38140363_38140370dup, NC_000008.10:g.37997877_37997888del, NC_000008.10:g.37997878_37997888del, NC_000008.10:g.37997879_37997888del, NC_000008.10:g.37997881_37997888del, NC_000008.10:g.37997882_37997888del, NC_000008.10:g.37997883_37997888del, NC_000008.10:g.37997884_37997888del, NC_000008.10:g.37997885_37997888del, NC_000008.10:g.37997886_37997888del, NC_000008.10:g.37997887_37997888del, NC_000008.10:g.37997888del, NC_000008.10:g.37997888dup, NC_000008.10:g.37997887_37997888dup, NC_000008.10:g.37997886_37997888dup, NC_000008.10:g.37997885_37997888dup, NC_000008.10:g.37997884_37997888dup, NC_000008.10:g.37997882_37997888dup, NC_000008.10:g.37997881_37997888dup

Select item 149085739014.

rs1490857390 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:38104672 (GRCh38)
8:37962190 (GRCh37)
Canonical SPDI:: NC_000008.11:38104671:T:C
Gene:: ASH2L (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.38104672T>C, NC_000008.10:g.37962190T>C

Select item 149079916515.

rs1490799165 has merged into rs71216649 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATATATATATATATATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATAT [Show Flanks]
Chromosome:: 8:38121347 (GRCh38)
8:37978865 (GRCh37)
Canonical SPDI:: NC_000008.11:38121333:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATAT,NC_000008.11:38121333:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATAT,NC_000008.11:38121333:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATAT,NC_000008.11:38121333:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATAT,NC_000008.11:38121333:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATAT,NC_000008.11:38121333:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATAT,NC_000008.11:38121333:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATAT,NC_000008.11:38121333:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATAT,NC_000008.11:38121333:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATAT,NC_000008.11:38121333:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATAT,NC_000008.11:38121333:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATAT,NC_000008.11:38121333:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATAT,NC_000008.11:38121333:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATAT,NC_000008.11:38121333:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATAT,NC_000008.11:38121333:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATAT,NC_000008.11:38121333:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATAT,NC_000008.11:38121333:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATAT,NC_000008.11:38121333:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000008.11:38121333:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000008.11:38121333:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000008.11:38121333:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
Gene:: ASH2L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATAT=0./0 (ALFA)
-=0.00156/16 (TOMMO)
HGVS:: NC_000008.11:g.38121335AT[6], NC_000008.11:g.38121335AT[7], NC_000008.11:g.38121335AT[8], NC_000008.11:g.38121335AT[9], NC_000008.11:g.38121335AT[10], NC_000008.11:g.38121335AT[11], NC_000008.11:g.38121335AT[12], NC_000008.11:g.38121335AT[13], NC_000008.11:g.38121335AT[14], NC_000008.11:g.38121335AT[15], NC_000008.11:g.38121335AT[16], NC_000008.11:g.38121335AT[17], NC_000008.11:g.38121335AT[18], NC_000008.11:g.38121335AT[19], NC_000008.11:g.38121335AT[20], NC_000008.11:g.38121335AT[21], NC_000008.11:g.38121335AT[23], NC_000008.11:g.38121335AT[24], NC_000008.11:g.38121335AT[25], NC_000008.11:g.38121335AT[26], NC_000008.11:g.38121335AT[32], NC_000008.10:g.37978853AT[6], NC_000008.10:g.37978853AT[7], NC_000008.10:g.37978853AT[8], NC_000008.10:g.37978853AT[9], NC_000008.10:g.37978853AT[10], NC_000008.10:g.37978853AT[11], NC_000008.10:g.37978853AT[12], NC_000008.10:g.37978853AT[13], NC_000008.10:g.37978853AT[14], NC_000008.10:g.37978853AT[15], NC_000008.10:g.37978853AT[16], NC_000008.10:g.37978853AT[17], NC_000008.10:g.37978853AT[18], NC_000008.10:g.37978853AT[19], NC_000008.10:g.37978853AT[20], NC_000008.10:g.37978853AT[21], NC_000008.10:g.37978853AT[23], NC_000008.10:g.37978853AT[24], NC_000008.10:g.37978853AT[25], NC_000008.10:g.37978853AT[26], NC_000008.10:g.37978853AT[32]

Select item 149071054916.

rs1490710549 [Homo sapiens]

Variant type:: DEL
Alleles:: TTG>- [Show Flanks]
Chromosome:: 8:38136128 (GRCh38)
8:37993646 (GRCh37)
Canonical SPDI:: NC_000008.11:38136127:TTG:
Gene:: ASH2L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000008.11:g.38136128_38136130del, NC_000008.10:g.37993646_37993648del

Select item 149065278517.

rs1490652785 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:38121004 (GRCh38)
8:37978522 (GRCh37)
Canonical SPDI:: NC_000008.11:38121003:C:G
Gene:: ASH2L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.38121004C>G, NC_000008.10:g.37978522C>G, NM_004674.5:c.1020C>G, NM_004674.4:c.1020C>G, XM_006716413.4:c.1020C>G, XM_006716413.3:c.1020C>G, XM_006716413.2:c.1020C>G, XM_006716413.1:c.1020C>G, XM_005273683.2:c.756C>G, XM_005273683.1:c.756C>G, NM_001105214.2:c.738C>G, XM_005273682.2:c.1038C>G, XM_005273682.1:c.1038C>G, XM_006716412.2:c.1038C>G, XM_006716412.1:c.1038C>G, NM_001261832.1:c.738C>G, NR_049736.1:n.932C>G, NM_001282272.1:c.603C>G

Select item 149061816118.

rs1490618161 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:38128579 (GRCh38)
8:37986097 (GRCh37)
Canonical SPDI:: NC_000008.11:38128578:G:C
Gene:: ASH2L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.38128579G>C, NC_000008.10:g.37986097G>C

Select item 149052659519.

rs1490526595 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:38127763 (GRCh38)
8:37985281 (GRCh37)
Canonical SPDI:: NC_000008.11:38127762:A:G
Gene:: ASH2L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.38127763A>G, NC_000008.10:g.37985281A>G

Select item 149038153520.

rs1490381535 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:38105057 (GRCh38)
8:37962575 (GRCh37)
Canonical SPDI:: NC_000008.11:38105056:C:T
Gene:: ASH2L (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.38105057C>T, NC_000008.10:g.37962575C>T

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