SNP Links for Gene (Select 55852) - SNP

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Select item 14915861911.

rs1491586191 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:64219536 (GRCh38)
17:62296897 (GRCh37)
Canonical SPDI:: NC_000017.11:64219536:T:TT
Gene:: TEX2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000017.11:g.64219537dup, NC_000017.10:g.62296897dup, NW_003315947.1:g.23384dup

Select item 14915401712.

rs1491540171 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 17:64181825 (GRCh38)
17:62259186 (GRCh37)
Canonical SPDI:: NC_000017.11:64181825:T:TAT
Gene:: TEX2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TAT=0./0 (ALFA)
TA=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.64181826_64181827insAT, NC_000017.10:g.62259186_62259187insAT

Select item 14914819723.

rs1491481972 has merged into rs59960456 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:64196994 (GRCh38)
17:62274354 (GRCh37)
Canonical SPDI:: NC_000017.11:64196982:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:64196982:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:64196982:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:64196982:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:64196982:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:64196982:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:64196982:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:64196982:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:64196982:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:64196982:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:64196982:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64196982:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64196982:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64196982:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64196982:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64196982:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64196982:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64196982:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64196982:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64196982:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64196982:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64196982:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64196982:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64196982:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64196982:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64196982:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64196982:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64196982:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64196982:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64196982:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64196982:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64196982:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64196982:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64196982:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TEX2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.225/9 (GENOME_DK)
HGVS:: NC_000017.11:g.64196994_64197006del, NC_000017.11:g.64196995_64197006del, NC_000017.11:g.64196996_64197006del, NC_000017.11:g.64196997_64197006del, NC_000017.11:g.64196998_64197006del, NC_000017.11:g.64196999_64197006del, NC_000017.11:g.64197000_64197006del, NC_000017.11:g.64197001_64197006del, NC_000017.11:g.64197002_64197006del, NC_000017.11:g.64197003_64197006del, NC_000017.11:g.64197004_64197006del, NC_000017.11:g.64197005_64197006del, NC_000017.11:g.64197006del, NC_000017.11:g.64197006dup, NC_000017.11:g.64197005_64197006dup, NC_000017.11:g.64197004_64197006dup, NC_000017.11:g.64197003_64197006dup, NC_000017.11:g.64197002_64197006dup, NC_000017.11:g.64197001_64197006dup, NC_000017.11:g.64197000_64197006dup, NC_000017.11:g.64196999_64197006dup, NC_000017.11:g.64196998_64197006dup, NC_000017.11:g.64196997_64197006dup, NC_000017.11:g.64196996_64197006dup, NC_000017.11:g.64196995_64197006dup, NC_000017.11:g.64196994_64197006dup, NC_000017.11:g.64196993_64197006dup, NC_000017.11:g.64196992_64197006dup, NC_000017.11:g.64196983_64197006T[39]CTTTTTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000017.11:g.64196991_64197006dup, NC_000017.11:g.64196990_64197006dup, NC_000017.11:g.64196989_64197006dup, NC_000017.11:g.64196988_64197006dup, NC_000017.11:g.64196985_64197006dup, NC_000017.10:g.62274354_62274366del, NC_000017.10:g.62274355_62274366del, NC_000017.10:g.62274356_62274366del, NC_000017.10:g.62274357_62274366del, NC_000017.10:g.62274358_62274366del, NC_000017.10:g.62274359_62274366del, NC_000017.10:g.62274360_62274366del, NC_000017.10:g.62274361_62274366del, NC_000017.10:g.62274362_62274366del, NC_000017.10:g.62274363_62274366del, NC_000017.10:g.62274364_62274366del, NC_000017.10:g.62274365_62274366del, NC_000017.10:g.62274366del, NC_000017.10:g.62274366dup, NC_000017.10:g.62274365_62274366dup, NC_000017.10:g.62274364_62274366dup, NC_000017.10:g.62274363_62274366dup, NC_000017.10:g.62274362_62274366dup, NC_000017.10:g.62274361_62274366dup, NC_000017.10:g.62274360_62274366dup, NC_000017.10:g.62274359_62274366dup, NC_000017.10:g.62274358_62274366dup, NC_000017.10:g.62274357_62274366dup, NC_000017.10:g.62274356_62274366dup, NC_000017.10:g.62274355_62274366dup, NC_000017.10:g.62274354_62274366dup, NC_000017.10:g.62274353_62274366dup, NC_000017.10:g.62274352_62274366dup, NC_000017.10:g.62274343_62274366T[39]CTTTTTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000017.10:g.62274351_62274366dup, NC_000017.10:g.62274350_62274366dup, NC_000017.10:g.62274349_62274366dup, NC_000017.10:g.62274348_62274366dup, NC_000017.10:g.62274345_62274366dup, NW_003315947.1:g.841_853del, NW_003315947.1:g.842_853del, NW_003315947.1:g.843_853del, NW_003315947.1:g.844_853del, NW_003315947.1:g.845_853del, NW_003315947.1:g.846_853del, NW_003315947.1:g.847_853del, NW_003315947.1:g.848_853del, NW_003315947.1:g.849_853del, NW_003315947.1:g.850_853del, NW_003315947.1:g.851_853del, NW_003315947.1:g.852_853del, NW_003315947.1:g.853del, NW_003315947.1:g.853dup, NW_003315947.1:g.852_853dup, NW_003315947.1:g.851_853dup, NW_003315947.1:g.850_853dup, NW_003315947.1:g.849_853dup, NW_003315947.1:g.848_853dup, NW_003315947.1:g.847_853dup, NW_003315947.1:g.846_853dup, NW_003315947.1:g.845_853dup, NW_003315947.1:g.844_853dup, NW_003315947.1:g.843_853dup, NW_003315947.1:g.842_853dup, NW_003315947.1:g.841_853dup, NW_003315947.1:g.840_853dup, NW_003315947.1:g.839_853dup, NW_003315947.1:g.830_853T[39]CTTTTTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NW_003315947.1:g.838_853dup, NW_003315947.1:g.837_853dup, NW_003315947.1:g.836_853dup, NW_003315947.1:g.835_853dup, NW_003315947.1:g.832_853dup

Select item 14914485364.

rs1491448536 has merged into rs67787101 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:64181835 (GRCh38)
17:62259195 (GRCh37)
Canonical SPDI:: NC_000017.11:64181824:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:64181824:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:64181824:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:64181824:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:64181824:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:64181824:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:64181824:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:64181824:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:64181824:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:64181824:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TEX2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.3269/1637 (1000Genomes)
HGVS:: NC_000017.11:g.64181835_64181839del, NC_000017.11:g.64181837_64181839del, NC_000017.11:g.64181838_64181839del, NC_000017.11:g.64181839del, NC_000017.11:g.64181839dup, NC_000017.11:g.64181838_64181839dup, NC_000017.11:g.64181837_64181839dup, NC_000017.11:g.64181836_64181839dup, NC_000017.11:g.64181835_64181839dup, NC_000017.11:g.64181826_64181839dup, NC_000017.10:g.62259195_62259199del, NC_000017.10:g.62259197_62259199del, NC_000017.10:g.62259198_62259199del, NC_000017.10:g.62259199del, NC_000017.10:g.62259199dup, NC_000017.10:g.62259198_62259199dup, NC_000017.10:g.62259197_62259199dup, NC_000017.10:g.62259196_62259199dup, NC_000017.10:g.62259195_62259199dup, NC_000017.10:g.62259186_62259199dup

Select item 14914196515.

rs1491419651 has merged into rs200260065 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 17:64182920 (GRCh38)
17:62260280 (GRCh37)
Canonical SPDI:: NC_000017.11:64182909:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:64182909:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:64182909:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:64182909:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:64182909:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:64182909:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: TEX2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.014024/52 (TWINSUK)
-=0.015049/58 (ALSPAC)
-=0.021183/5607 (TOPMED)
-=0.035543/178 (1000Genomes)
HGVS:: NC_000017.11:g.64182920_64182923del, NC_000017.11:g.64182921_64182923del, NC_000017.11:g.64182922_64182923del, NC_000017.11:g.64182923del, NC_000017.11:g.64182923dup, NC_000017.11:g.64182922_64182923dup, NC_000017.10:g.62260280_62260283del, NC_000017.10:g.62260281_62260283del, NC_000017.10:g.62260282_62260283del, NC_000017.10:g.62260283del, NC_000017.10:g.62260283dup, NC_000017.10:g.62260282_62260283dup

Select item 14913998076.

rs1491399807 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:64181472 (GRCh38)
17:62258832 (GRCh37)
Canonical SPDI:: NC_000017.11:64181471:CA:
Gene:: TEX2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000169/2 (ALFA)
-=0.000232/25 (GnomAD)
HGVS:: NC_000017.11:g.64181472_64181473del, NC_000017.10:g.62258832_62258833del

Select item 14912930017.

rs1491293001 [Homo sapiens]

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

Select item 14912798468.

rs1491279846 has merged into rs71158308 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:64223370 (GRCh38)
17:62300730 (GRCh37)
Canonical SPDI:: NC_000017.11:64223357:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:64223357:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:64223357:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:64223357:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:64223357:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:64223357:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:64223357:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:64223357:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:64223357:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64223357:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64223357:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64223357:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64223357:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64223357:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64223357:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64223357:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TEX2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
TT=0.3339/1672 (1000Genomes)
HGVS:: NC_000017.11:g.64223370_64223374del, NC_000017.11:g.64223371_64223374del, NC_000017.11:g.64223372_64223374del, NC_000017.11:g.64223373_64223374del, NC_000017.11:g.64223374del, NC_000017.11:g.64223374dup, NC_000017.11:g.64223373_64223374dup, NC_000017.11:g.64223372_64223374dup, NC_000017.11:g.64223371_64223374dup, NC_000017.11:g.64223358_64223374T[21]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000017.11:g.64223358_64223374T[21]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000017.11:g.64223370_64223374dup, NC_000017.11:g.64223369_64223374dup, NC_000017.11:g.64223366_64223374dup, NC_000017.11:g.64223374_64223375insTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.64223374_64223375insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.62300730_62300734del, NC_000017.10:g.62300731_62300734del, NC_000017.10:g.62300732_62300734del, NC_000017.10:g.62300733_62300734del, NC_000017.10:g.62300734del, NC_000017.10:g.62300734dup, NC_000017.10:g.62300733_62300734dup, NC_000017.10:g.62300732_62300734dup, NC_000017.10:g.62300731_62300734dup, NC_000017.10:g.62300718_62300734T[21]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000017.10:g.62300718_62300734T[21]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000017.10:g.62300730_62300734dup, NC_000017.10:g.62300729_62300734dup, NC_000017.10:g.62300726_62300734dup, NC_000017.10:g.62300734_62300735insTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.62300734_62300735insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_003315947.1:g.27217_27221del, NW_003315947.1:g.27218_27221del, NW_003315947.1:g.27219_27221del, NW_003315947.1:g.27220_27221del, NW_003315947.1:g.27221del, NW_003315947.1:g.27221dup, NW_003315947.1:g.27220_27221dup, NW_003315947.1:g.27219_27221dup, NW_003315947.1:g.27218_27221dup, NW_003315947.1:g.27205_27221T[21]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NW_003315947.1:g.27205_27221T[21]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NW_003315947.1:g.27217_27221dup, NW_003315947.1:g.27216_27221dup, NW_003315947.1:g.27213_27221dup, NW_003315947.1:g.27221_27222insTTTTTTTTTTTTTTTTTTT, NW_003315947.1:g.27221_27222insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14911846769.

rs1491184676 has merged into rs71156002 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:64170635 (GRCh38)
17:62247995 (GRCh37)
Canonical SPDI:: NC_000017.11:64170622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:64170622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:64170622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:64170622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:64170622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:64170622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:64170622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:64170622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:64170622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:64170622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64170622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64170622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64170622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64170622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64170622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64170622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64170622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64170622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64170622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64170622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64170622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64170622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64170622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64170622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64170622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64170622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64170622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64170622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64170622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64170622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64170622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64170622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64170622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64170622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64170622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64170622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TEX2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.175/7 (GENOME_DK)
HGVS:: NC_000017.11:g.64170635_64170647del, NC_000017.11:g.64170636_64170647del, NC_000017.11:g.64170637_64170647del, NC_000017.11:g.64170638_64170647del, NC_000017.11:g.64170639_64170647del, NC_000017.11:g.64170640_64170647del, NC_000017.11:g.64170641_64170647del, NC_000017.11:g.64170642_64170647del, NC_000017.11:g.64170643_64170647del, NC_000017.11:g.64170644_64170647del, NC_000017.11:g.64170645_64170647del, NC_000017.11:g.64170646_64170647del, NC_000017.11:g.64170647del, NC_000017.11:g.64170647dup, NC_000017.11:g.64170646_64170647dup, NC_000017.11:g.64170645_64170647dup, NC_000017.11:g.64170644_64170647dup, NC_000017.11:g.64170643_64170647dup, NC_000017.11:g.64170642_64170647dup, NC_000017.11:g.64170641_64170647dup, NC_000017.11:g.64170640_64170647dup, NC_000017.11:g.64170639_64170647dup, NC_000017.11:g.64170638_64170647dup, NC_000017.11:g.64170637_64170647dup, NC_000017.11:g.64170636_64170647dup, NC_000017.11:g.64170635_64170647dup, NC_000017.11:g.64170634_64170647dup, NC_000017.11:g.64170633_64170647dup, NC_000017.11:g.64170632_64170647dup, NC_000017.11:g.64170631_64170647dup, NC_000017.11:g.64170629_64170647dup, NC_000017.11:g.64170628_64170647dup, NC_000017.11:g.64170627_64170647dup, NC_000017.11:g.64170625_64170647dup, NC_000017.11:g.64170647_64170648insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.64170647_64170648insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.62247995_62248007del, NC_000017.10:g.62247996_62248007del, NC_000017.10:g.62247997_62248007del, NC_000017.10:g.62247998_62248007del, NC_000017.10:g.62247999_62248007del, NC_000017.10:g.62248000_62248007del, NC_000017.10:g.62248001_62248007del, NC_000017.10:g.62248002_62248007del, NC_000017.10:g.62248003_62248007del, NC_000017.10:g.62248004_62248007del, NC_000017.10:g.62248005_62248007del, NC_000017.10:g.62248006_62248007del, NC_000017.10:g.62248007del, NC_000017.10:g.62248007dup, NC_000017.10:g.62248006_62248007dup, NC_000017.10:g.62248005_62248007dup, NC_000017.10:g.62248004_62248007dup, NC_000017.10:g.62248003_62248007dup, NC_000017.10:g.62248002_62248007dup, NC_000017.10:g.62248001_62248007dup, NC_000017.10:g.62248000_62248007dup, NC_000017.10:g.62247999_62248007dup, NC_000017.10:g.62247998_62248007dup, NC_000017.10:g.62247997_62248007dup, NC_000017.10:g.62247996_62248007dup, NC_000017.10:g.62247995_62248007dup, NC_000017.10:g.62247994_62248007dup, NC_000017.10:g.62247993_62248007dup, NC_000017.10:g.62247992_62248007dup, NC_000017.10:g.62247991_62248007dup, NC_000017.10:g.62247989_62248007dup, NC_000017.10:g.62247988_62248007dup, NC_000017.10:g.62247987_62248007dup, NC_000017.10:g.62247985_62248007dup, NC_000017.10:g.62248007_62248008insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.62248007_62248008insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149117769810.

rs1491177698 [Homo sapiens]

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

Select item 149112310011.

rs1491123100 has merged into rs1325727854 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA [Show Flanks]
Chromosome:: 17:64219537 (GRCh38)
17:62296897 (GRCh37)
Canonical SPDI:: NC_000017.11:64219535:ATA:A,NC_000017.11:64219535:ATA:ATATA
Gene:: TEX2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATATA=0./0 (ALFA)
HGVS:: NC_000017.11:g.64219537_64219538del, NC_000017.11:g.64219537_64219538dup, NC_000017.10:g.62296897_62296898del, NC_000017.10:g.62296897_62296898dup, NW_003315947.1:g.23384_23385del, NW_003315947.1:g.23384_23385dup

Select item 149111964312.

rs1491119643 has merged into rs3070736 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:64168913 (GRCh38)
17:62246273 (GRCh37)
Canonical SPDI:: NC_000017.11:64168902:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:64168902:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:64168902:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:64168902:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:64168902:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:64168902:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:64168902:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:64168902:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:64168902:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:64168902:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64168902:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64168902:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64168902:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64168902:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64168902:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64168902:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64168902:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64168902:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64168902:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64168902:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64168902:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64168902:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TEX2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
TTTTTTT=0.394569/1976 (1000Genomes)
HGVS:: NC_000017.11:g.64168913_64168919del, NC_000017.11:g.64168914_64168919del, NC_000017.11:g.64168915_64168919del, NC_000017.11:g.64168916_64168919del, NC_000017.11:g.64168917_64168919del, NC_000017.11:g.64168918_64168919del, NC_000017.11:g.64168919del, NC_000017.11:g.64168919dup, NC_000017.11:g.64168917_64168919dup, NC_000017.11:g.64168915_64168919dup, NC_000017.11:g.64168914_64168919dup, NC_000017.11:g.64168913_64168919dup, NC_000017.11:g.64168912_64168919dup, NC_000017.11:g.64168911_64168919dup, NC_000017.11:g.64168910_64168919dup, NC_000017.11:g.64168909_64168919dup, NC_000017.11:g.64168908_64168919dup, NC_000017.11:g.64168907_64168919dup, NC_000017.11:g.64168906_64168919dup, NC_000017.11:g.64168919_64168920insTTTTTTTTTTTTTTTTTT, NC_000017.11:g.64168919_64168920insTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.64168919_64168920insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.62246273_62246279del, NC_000017.10:g.62246274_62246279del, NC_000017.10:g.62246275_62246279del, NC_000017.10:g.62246276_62246279del, NC_000017.10:g.62246277_62246279del, NC_000017.10:g.62246278_62246279del, NC_000017.10:g.62246279del, NC_000017.10:g.62246279dup, NC_000017.10:g.62246277_62246279dup, NC_000017.10:g.62246275_62246279dup, NC_000017.10:g.62246274_62246279dup, NC_000017.10:g.62246273_62246279dup, NC_000017.10:g.62246272_62246279dup, NC_000017.10:g.62246271_62246279dup, NC_000017.10:g.62246270_62246279dup, NC_000017.10:g.62246269_62246279dup, NC_000017.10:g.62246268_62246279dup, NC_000017.10:g.62246267_62246279dup, NC_000017.10:g.62246266_62246279dup, NC_000017.10:g.62246279_62246280insTTTTTTTTTTTTTTTTTT, NC_000017.10:g.62246279_62246280insTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.62246279_62246280insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149111662613.

rs1491116626 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:64182910 (GRCh38)
17:62260271 (GRCh37)
Canonical SPDI:: NC_000017.11:64182910::G
Gene:: TEX2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.64182910_64182911insG, NC_000017.10:g.62260270_62260271insG

Select item 149111492414.

rs1491114924 has merged into rs759988777 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,A,AAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:64181482 (GRCh38)
17:62258842 (GRCh37)
Canonical SPDI:: NC_000017.11:64181472:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:64181472:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:64181472:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:64181472:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:64181472:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:64181472:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:64181472:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:64181472:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:64181472:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:64181472:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:64181472:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:64181472:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:64181472:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:64181472:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:64181472:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:64181472:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:64181472:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:64181472:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TEX2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.1/4 (GENOME_DK)
HGVS:: NC_000017.11:g.64181482_64181498del, NC_000017.11:g.64181483_64181498del, NC_000017.11:g.64181485_64181498del, NC_000017.11:g.64181487_64181498del, NC_000017.11:g.64181489_64181498del, NC_000017.11:g.64181490_64181498del, NC_000017.11:g.64181491_64181498del, NC_000017.11:g.64181492_64181498del, NC_000017.11:g.64181493_64181498del, NC_000017.11:g.64181494_64181498del, NC_000017.11:g.64181495_64181498del, NC_000017.11:g.64181496_64181498del, NC_000017.11:g.64181498del, NC_000017.11:g.64181498dup, NC_000017.11:g.64181497_64181498dup, NC_000017.11:g.64181496_64181498dup, NC_000017.11:g.64181495_64181498dup, NC_000017.11:g.64181494_64181498dup, NC_000017.10:g.62258842_62258858del, NC_000017.10:g.62258843_62258858del, NC_000017.10:g.62258845_62258858del, NC_000017.10:g.62258847_62258858del, NC_000017.10:g.62258849_62258858del, NC_000017.10:g.62258850_62258858del, NC_000017.10:g.62258851_62258858del, NC_000017.10:g.62258852_62258858del, NC_000017.10:g.62258853_62258858del, NC_000017.10:g.62258854_62258858del, NC_000017.10:g.62258855_62258858del, NC_000017.10:g.62258856_62258858del, NC_000017.10:g.62258858del, NC_000017.10:g.62258858dup, NC_000017.10:g.62258857_62258858dup, NC_000017.10:g.62258856_62258858dup, NC_000017.10:g.62258855_62258858dup, NC_000017.10:g.62258854_62258858dup

Select item 149104052715.

rs1491040527 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:64182810 (GRCh38)
17:62260170 (GRCh37)
Canonical SPDI:: NC_000017.11:64182809:CT:
Gene:: TEX2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00003/2 (GnomAD)
HGVS:: NC_000017.11:g.64182810_64182811del, NC_000017.10:g.62260170_62260171del

Select item 149097299116.

rs1490972991 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:64232640 (GRCh38)
17:62310000 (GRCh37)
Canonical SPDI:: NC_000017.11:64232639:G:A
Gene:: TEX2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.64232640G>A, NC_000017.10:g.62310000G>A, NW_003315947.1:g.36487G>A

Select item 149096384017.

rs1490963840 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 17:64174210 (GRCh38)
17:62251570 (GRCh37)
Canonical SPDI:: NC_000017.11:64174209:C:A,NC_000017.11:64174209:C:G
Gene:: TEX2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.64174210C>A, NC_000017.11:g.64174210C>G, NC_000017.10:g.62251570C>A, NC_000017.10:g.62251570C>G

Select item 149094648918.

rs1490946489 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAA>- [Show Flanks]
Chromosome:: 17:64162211 (GRCh38)
17:62239571 (GRCh37)
Canonical SPDI:: NC_000017.11:64162206:AGAAAGAA:AGAA
Gene:: TEX2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAAAGAA=0.000142/2 (ALFA)
-=0.000083/22 (TOPMED)
-=0.000086/12 (GnomAD)
HGVS:: NC_000017.11:g.64162207AGAA[1], NC_000017.10:g.62239567AGAA[1]

Select item 149094110819.

rs1490941108 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:64165009 (GRCh38)
17:62242369 (GRCh37)
Canonical SPDI:: NC_000017.11:64165008:C:G,NC_000017.11:64165008:C:T
Gene:: TEX2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.64165009C>G, NC_000017.11:g.64165009C>T, NC_000017.10:g.62242369C>G, NC_000017.10:g.62242369C>T

Select item 149094054120.

rs1490940541 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:64156223 (GRCh38)
17:62233583 (GRCh37)
Canonical SPDI:: NC_000017.11:64156222:G:C
Gene:: TEX2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.64156223G>C, NC_000017.10:g.62233583G>C

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