SNP Links for Gene (Select 9569) - SNP

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Select item 14915877881.

rs1491587788 has merged into rs66883639 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC [Show Flanks]
Chromosome:: 7:74490551 (GRCh38)
7:73904881 (GRCh37)
Canonical SPDI:: NC_000007.14:74490542:CCCCCCCCCCC:CCCCCCCC,NC_000007.14:74490542:CCCCCCCCCCC:CCCCCCCCC,NC_000007.14:74490542:CCCCCCCCCCC:CCCCCCCCCC,NC_000007.14:74490542:CCCCCCCCCCC:CCCCCCCCCCCC,NC_000007.14:74490542:CCCCCCCCCCC:CCCCCCCCCCCCC,NC_000007.14:74490542:CCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000007.14:74490542:CCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000007.14:74490542:CCCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000007.14:74490542:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000007.14:74490542:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCC
Gene:: GTF2IRD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCCCC=0./0 (ALFA)
-=0.475/19 (GENOME_DK)
-=0.4952/2480 (1000Genomes)
HGVS:: NC_000007.14:g.74490551_74490553del, NC_000007.14:g.74490552_74490553del, NC_000007.14:g.74490553del, NC_000007.14:g.74490553dup, NC_000007.14:g.74490552_74490553dup, NC_000007.14:g.74490551_74490553dup, NC_000007.14:g.74490550_74490553dup, NC_000007.14:g.74490548_74490553dup, NC_000007.14:g.74490547_74490553dup, NC_000007.14:g.74490546_74490553dup, NC_000007.13:g.73904881_73904883del, NC_000007.13:g.73904882_73904883del, NC_000007.13:g.73904883del, NC_000007.13:g.73904883dup, NC_000007.13:g.73904882_73904883dup, NC_000007.13:g.73904881_73904883dup, NC_000007.13:g.73904880_73904883dup, NC_000007.13:g.73904878_73904883dup, NC_000007.13:g.73904877_73904883dup, NC_000007.13:g.73904876_73904883dup, NG_027954.2:g.41647_41649del, NG_027954.2:g.41648_41649del, NG_027954.2:g.41649del, NG_027954.2:g.41649dup, NG_027954.2:g.41648_41649dup, NG_027954.2:g.41647_41649dup, NG_027954.2:g.41646_41649dup, NG_027954.2:g.41644_41649dup, NG_027954.2:g.41643_41649dup, NG_027954.2:g.41642_41649dup, NG_027954.1:g.41762_41764del, NG_027954.1:g.41763_41764del, NG_027954.1:g.41764del, NG_027954.1:g.41764dup, NG_027954.1:g.41763_41764dup, NG_027954.1:g.41762_41764dup, NG_027954.1:g.41761_41764dup, NG_027954.1:g.41759_41764dup, NG_027954.1:g.41758_41764dup, NG_027954.1:g.41757_41764dup, NW_003871064.1:g.2019787_2019789del, NW_003871064.1:g.2019788_2019789del, NW_003871064.1:g.2019789del, NW_003871064.1:g.2019789dup, NW_003871064.1:g.2019788_2019789dup, NW_003871064.1:g.2019787_2019789dup, NW_003871064.1:g.2019786_2019789dup, NW_003871064.1:g.2019784_2019789dup, NW_003871064.1:g.2019783_2019789dup, NW_003871064.1:g.2019782_2019789dup

Select item 14915732592.

rs1491573259 has merged into rs1190595418 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTG>-,TG,TGTGTG [Show Flanks]
Chromosome:: 7:74496369 (GRCh38)
7:73910699 (GRCh37)
Canonical SPDI:: NC_000007.14:74496362:TGTGTGTGTG:TGTGTG,NC_000007.14:74496362:TGTGTGTGTG:TGTGTGTG,NC_000007.14:74496362:TGTGTGTGTG:TGTGTGTGTGTG
Gene:: GTF2IRD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTG=0.00092/15 (ALFA)
-=0.000011/3 (TOPMED)
-=0.001638/3 (Korea1K)
HGVS:: NC_000007.14:g.74496363TG[3], NC_000007.14:g.74496363TG[4], NC_000007.14:g.74496363TG[6], NC_000007.13:g.73910693TG[3], NC_000007.13:g.73910693TG[4], NC_000007.13:g.73910693TG[6], NG_027954.2:g.47459TG[3], NG_027954.2:g.47459TG[4], NG_027954.2:g.47459TG[6], NG_027954.1:g.47574TG[3], NG_027954.1:g.47574TG[4], NG_027954.1:g.47574TG[6], NW_003871064.1:g.2025599TG[3], NW_003871064.1:g.2025599TG[4], NW_003871064.1:g.2025599TG[6]

Select item 14915697843.

rs1491569784 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGTGTG>-,GGTGTGTGTGGGTGTG [Show Flanks]
Chromosome:: 7:74496474 (GRCh38)
7:73910804 (GRCh37)
Canonical SPDI:: NC_000007.14:74496469:TGTGGGTGTG:TGTG,NC_000007.14:74496469:TGTGGGTGTG:TGTGGGTGTGTGTGGGTGTG
Gene:: GTF2IRD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGGGTGTGTGTGGGTGTG=0.00126/15 (ALFA)
TGTGGGTGTG=0.00009/1 (TOMMO)
TGTGGGTGTG=0.00219/14 (1000Genomes)
HGVS:: NC_000007.14:g.74496474_74496479del, NC_000007.14:g.74496470_74496479dup, NC_000007.13:g.73910804_73910809del, NC_000007.13:g.73910800_73910809dup, NG_027954.2:g.47570_47575del, NG_027954.2:g.47566_47575dup, NG_027954.1:g.47685_47690del, NG_027954.1:g.47681_47690dup, NW_003871064.1:g.2025710_2025715del, NW_003871064.1:g.2025706_2025715dup

Select item 14915660964.

rs1491566096 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGTGTG [Show Flanks]
Chromosome:: 7:74496486 (GRCh38)
7:73910817 (GRCh37)
Canonical SPDI:: NC_000007.14:74496486:GTGTG:GTGTGGGTGTG
Gene:: GTF2IRD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTGTGGGTGTG=0./0 (ALFA)
GTGTGG=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.74496487_74496491GT[2]GGGTGTG[1], NC_000007.13:g.73910817_73910821GT[2]GGGTGTG[1], NG_027954.2:g.47583_47587GT[2]GGGTGTG[1], NG_027954.1:g.47698_47702GT[2]GGGTGTG[1], NW_003871064.1:g.2025723_2025727GT[2]GGGTGTG[1]

Select item 14915583305.

rs1491558330 has merged into rs66929736 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:74471678 (GRCh38)
7:73886008 (GRCh37)
Canonical SPDI:: NC_000007.14:74471672:AAAAAAAAAAAAAAAAA:AAAAA,NC_000007.14:74471672:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:74471672:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:74471672:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:74471672:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:74471672:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:74471672:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:74471672:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:74471672:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:74471672:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:74471672:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:74471672:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:74471672:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:74471672:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:74471672:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:74471672:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:74471672:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:74471672:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:74471672:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:74471672:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GTF2IRD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
AA=0.2783/1032 (TWINSUK)
AA=0.2909/1121 (ALSPAC)
HGVS:: NC_000007.14:g.74471678_74471689del, NC_000007.14:g.74471683_74471689del, NC_000007.14:g.74471686_74471689del, NC_000007.14:g.74471687_74471689del, NC_000007.14:g.74471688_74471689del, NC_000007.14:g.74471689del, NC_000007.14:g.74471689dup, NC_000007.14:g.74471688_74471689dup, NC_000007.14:g.74471687_74471689dup, NC_000007.14:g.74471686_74471689dup, NC_000007.14:g.74471685_74471689dup, NC_000007.14:g.74471683_74471689dup, NC_000007.14:g.74471682_74471689dup, NC_000007.14:g.74471681_74471689dup, NC_000007.14:g.74471680_74471689dup, NC_000007.14:g.74471679_74471689dup, NC_000007.14:g.74471678_74471689dup, NC_000007.14:g.74471677_74471689dup, NC_000007.14:g.74471689_74471690insAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.74471689_74471690insAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.73886008_73886019del, NC_000007.13:g.73886013_73886019del, NC_000007.13:g.73886016_73886019del, NC_000007.13:g.73886017_73886019del, NC_000007.13:g.73886018_73886019del, NC_000007.13:g.73886019del, NC_000007.13:g.73886019dup, NC_000007.13:g.73886018_73886019dup, NC_000007.13:g.73886017_73886019dup, NC_000007.13:g.73886016_73886019dup, NC_000007.13:g.73886015_73886019dup, NC_000007.13:g.73886013_73886019dup, NC_000007.13:g.73886012_73886019dup, NC_000007.13:g.73886011_73886019dup, NC_000007.13:g.73886010_73886019dup, NC_000007.13:g.73886009_73886019dup, NC_000007.13:g.73886008_73886019dup, NC_000007.13:g.73886007_73886019dup, NC_000007.13:g.73886019_73886020insAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.73886019_73886020insAAAAAAAAAAAAAAAAAAAAAA, NG_027954.2:g.22774_22785del, NG_027954.2:g.22779_22785del, NG_027954.2:g.22782_22785del, NG_027954.2:g.22783_22785del, NG_027954.2:g.22784_22785del, NG_027954.2:g.22785del, NG_027954.2:g.22785dup, NG_027954.2:g.22784_22785dup, NG_027954.2:g.22783_22785dup, NG_027954.2:g.22782_22785dup, NG_027954.2:g.22781_22785dup, NG_027954.2:g.22779_22785dup, NG_027954.2:g.22778_22785dup, NG_027954.2:g.22777_22785dup, NG_027954.2:g.22776_22785dup, NG_027954.2:g.22775_22785dup, NG_027954.2:g.22774_22785dup, NG_027954.2:g.22773_22785dup, NG_027954.2:g.22785_22786insAAAAAAAAAAAAAAAAAAAAA, NG_027954.2:g.22785_22786insAAAAAAAAAAAAAAAAAAAAAA, NG_027954.1:g.22889_22900del, NG_027954.1:g.22894_22900del, NG_027954.1:g.22897_22900del, NG_027954.1:g.22898_22900del, NG_027954.1:g.22899_22900del, NG_027954.1:g.22900del, NG_027954.1:g.22900dup, NG_027954.1:g.22899_22900dup, NG_027954.1:g.22898_22900dup, NG_027954.1:g.22897_22900dup, NG_027954.1:g.22896_22900dup, NG_027954.1:g.22894_22900dup, NG_027954.1:g.22893_22900dup, NG_027954.1:g.22892_22900dup, NG_027954.1:g.22891_22900dup, NG_027954.1:g.22890_22900dup, NG_027954.1:g.22889_22900dup, NG_027954.1:g.22888_22900dup, NG_027954.1:g.22900_22901insAAAAAAAAAAAAAAAAAAAAA, NG_027954.1:g.22900_22901insAAAAAAAAAAAAAAAAAAAAAA, NW_003871064.1:g.2000914_2000925del, NW_003871064.1:g.2000919_2000925del, NW_003871064.1:g.2000922_2000925del, NW_003871064.1:g.2000923_2000925del, NW_003871064.1:g.2000924_2000925del, NW_003871064.1:g.2000925del, NW_003871064.1:g.2000925dup, NW_003871064.1:g.2000924_2000925dup, NW_003871064.1:g.2000923_2000925dup, NW_003871064.1:g.2000922_2000925dup, NW_003871064.1:g.2000921_2000925dup, NW_003871064.1:g.2000919_2000925dup, NW_003871064.1:g.2000918_2000925dup, NW_003871064.1:g.2000917_2000925dup, NW_003871064.1:g.2000916_2000925dup, NW_003871064.1:g.2000915_2000925dup, NW_003871064.1:g.2000914_2000925dup, NW_003871064.1:g.2000913_2000925dup, NW_003871064.1:g.2000925_2000926insAAAAAAAAAAAAAAAAAAAAA, NW_003871064.1:g.2000925_2000926insAAAAAAAAAAAAAAAAAAAAAA

Select item 14915117266.

rs1491511726 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 7:74474081 (GRCh38)
7:73888412 (GRCh37)
Canonical SPDI:: NC_000007.14:74474081::G
Gene:: GTF2IRD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000674/8 (ALFA)
G=0.00085/225 (TOPMED)
G=0.004395/119 (GnomAD)
HGVS:: NC_000007.14:g.74474081_74474082insG, NC_000007.13:g.73888411_73888412insG, NG_027954.2:g.25177_25178insG, NG_027954.1:g.25292_25293insG, NW_003871064.1:g.2003317_2003318insG

Select item 14914890717.

rs1491489071 has merged into rs587743253 [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 [Show Flanks]
Chromosome:: 7:74547765 (GRCh38)
7:73962095 (GRCh37)
Canonical SPDI:: NC_000007.14:74547755:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000007.14:74547755:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:74547755:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:74547755:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:74547755:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:74547755:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:74547755:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:74547755:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:74547755:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:74547755:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:74547755:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:74547755:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:74547755:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:74547755:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:74547755:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:74547755:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:74547755:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:74547755:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:74547755:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GTF2IRD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.014976/75 (1000Genomes)
HGVS:: NC_000007.14:g.74547765_74547777del, NC_000007.14:g.74547766_74547777del, NC_000007.14:g.74547767_74547777del, NC_000007.14:g.74547768_74547777del, NC_000007.14:g.74547769_74547777del, NC_000007.14:g.74547770_74547777del, NC_000007.14:g.74547771_74547777del, NC_000007.14:g.74547772_74547777del, NC_000007.14:g.74547773_74547777del, NC_000007.14:g.74547774_74547777del, NC_000007.14:g.74547775_74547777del, NC_000007.14:g.74547776_74547777del, NC_000007.14:g.74547777del, NC_000007.14:g.74547777dup, NC_000007.14:g.74547776_74547777dup, NC_000007.14:g.74547775_74547777dup, NC_000007.14:g.74547774_74547777dup, NC_000007.14:g.74547773_74547777dup, NC_000007.14:g.74547772_74547777dup, NW_003871064.1:g.2077001_2077013del, NW_003871064.1:g.2077002_2077013del, NW_003871064.1:g.2077003_2077013del, NW_003871064.1:g.2077004_2077013del, NW_003871064.1:g.2077005_2077013del, NW_003871064.1:g.2077006_2077013del, NW_003871064.1:g.2077007_2077013del, NW_003871064.1:g.2077008_2077013del, NW_003871064.1:g.2077009_2077013del, NW_003871064.1:g.2077010_2077013del, NW_003871064.1:g.2077011_2077013del, NW_003871064.1:g.2077012_2077013del, NW_003871064.1:g.2077013del, NW_003871064.1:g.2077013dup, NW_003871064.1:g.2077012_2077013dup, NW_003871064.1:g.2077011_2077013dup, NW_003871064.1:g.2077010_2077013dup, NW_003871064.1:g.2077009_2077013dup, NW_003871064.1:g.2077008_2077013dup, NG_027954.2:g.98861_98873del, NG_027954.2:g.98862_98873del, NG_027954.2:g.98863_98873del, NG_027954.2:g.98864_98873del, NG_027954.2:g.98865_98873del, NG_027954.2:g.98866_98873del, NG_027954.2:g.98867_98873del, NG_027954.2:g.98868_98873del, NG_027954.2:g.98869_98873del, NG_027954.2:g.98870_98873del, NG_027954.2:g.98871_98873del, NG_027954.2:g.98872_98873del, NG_027954.2:g.98873del, NG_027954.2:g.98873dup, NG_027954.2:g.98872_98873dup, NG_027954.2:g.98871_98873dup, NG_027954.2:g.98870_98873dup, NG_027954.2:g.98869_98873dup, NG_027954.2:g.98868_98873dup, NG_027954.1:g.98976_98988del, NG_027954.1:g.98977_98988del, NG_027954.1:g.98978_98988del, NG_027954.1:g.98979_98988del, NG_027954.1:g.98980_98988del, NG_027954.1:g.98981_98988del, NG_027954.1:g.98982_98988del, NG_027954.1:g.98983_98988del, NG_027954.1:g.98984_98988del, NG_027954.1:g.98985_98988del, NG_027954.1:g.98986_98988del, NG_027954.1:g.98987_98988del, NG_027954.1:g.98988del, NG_027954.1:g.98988dup, NG_027954.1:g.98987_98988dup, NG_027954.1:g.98986_98988dup, NG_027954.1:g.98985_98988dup, NG_027954.1:g.98984_98988dup, NG_027954.1:g.98983_98988dup, NC_000007.13:g.73962095_73962107del, NC_000007.13:g.73962096_73962107del, NC_000007.13:g.73962097_73962107del, NC_000007.13:g.73962098_73962107del, NC_000007.13:g.73962099_73962107del, NC_000007.13:g.73962100_73962107del, NC_000007.13:g.73962101_73962107del, NC_000007.13:g.73962102_73962107del, NC_000007.13:g.73962103_73962107del, NC_000007.13:g.73962104_73962107del, NC_000007.13:g.73962105_73962107del, NC_000007.13:g.73962106_73962107del, NC_000007.13:g.73962107del, NC_000007.13:g.73962107dup, NC_000007.13:g.73962106_73962107dup, NC_000007.13:g.73962105_73962107dup, NC_000007.13:g.73962104_73962107dup, NC_000007.13:g.73962103_73962107dup, NC_000007.13:g.73962102_73962107dup

Select item 14914567378.

rs1491456737 has merged into rs201103363 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 7:74471672 (GRCh38)
7:73886002 (GRCh37)
Canonical SPDI:: NC_000007.14:74471671:TA:
Gene:: GTF2IRD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.02672/317 (ALFA)
-=0.07683/492 (1000Genomes)
-=0.0824/4078 (GnomAD)
-=0.35523/5834 (TOMMO)
HGVS:: NC_000007.14:g.74471672_74471673del, NC_000007.13:g.73886002_73886003del, NG_027954.2:g.22768_22769del, NG_027954.1:g.22883_22884del, NW_003871064.1:g.2000908_2000909del

Select item 14914145729.

rs1491414572 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 7:74496362 (GRCh38)
7:73910692 (GRCh37)
Canonical SPDI:: NC_000007.14:74496361:AT:
Gene:: GTF2IRD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000018/2 (GnomAD)
-=0.000171/3 (TOMMO)
HGVS:: NC_000007.14:g.74496362_74496363del, NC_000007.13:g.73910692_73910693del, NG_027954.2:g.47458_47459del, NG_027954.1:g.47573_47574del, NW_003871064.1:g.2025598_2025599del

Select item 149140695010.

rs1491406950 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 7:74593413 (GRCh38)
7:74007742 (GRCh37)
Canonical SPDI:: NC_000007.14:74593412:TA:
Gene:: GTF2IRD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00126/15 (ALFA)
-=0.00008/2 (TOMMO)
HGVS:: NC_000007.14:g.74593413_74593414del, NW_003871064.1:g.2122649_2122650del, NG_027954.2:g.144509_144510del, NG_027954.1:g.144646dup, NG_027954.1:g.144623del, NC_000007.13:g.74007742_74007743del

Select item 149138265311.

rs1491382653 has merged into rs56894912 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 7:74533149 (GRCh38)
7:73947479 (GRCh37)
Canonical SPDI:: NC_000007.14:74533133:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:74533133:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:74533133:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:74533133:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:74533133:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:74533133:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:74533133:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: GTF2IRD1 (Varview), WBSCR23 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.74533149_74533152del, NC_000007.14:g.74533150_74533152del, NC_000007.14:g.74533151_74533152del, NC_000007.14:g.74533152del, NC_000007.14:g.74533152dup, NC_000007.14:g.74533151_74533152dup, NC_000007.14:g.74533150_74533152dup, NW_003871064.1:g.2062385_2062388del, NW_003871064.1:g.2062386_2062388del, NW_003871064.1:g.2062387_2062388del, NW_003871064.1:g.2062388del, NW_003871064.1:g.2062388dup, NW_003871064.1:g.2062387_2062388dup, NW_003871064.1:g.2062386_2062388dup, NG_027954.2:g.84245_84248del, NG_027954.2:g.84246_84248del, NG_027954.2:g.84247_84248del, NG_027954.2:g.84248del, NG_027954.2:g.84248dup, NG_027954.2:g.84247_84248dup, NG_027954.2:g.84246_84248dup, NG_027954.1:g.84360_84363del, NG_027954.1:g.84361_84363del, NG_027954.1:g.84362_84363del, NG_027954.1:g.84363del, NG_027954.1:g.84363dup, NG_027954.1:g.84362_84363dup, NG_027954.1:g.84361_84363dup, NC_000007.13:g.73947479_73947482del, NC_000007.13:g.73947480_73947482del, NC_000007.13:g.73947481_73947482del, NC_000007.13:g.73947482del, NC_000007.13:g.73947482dup, NC_000007.13:g.73947481_73947482dup, NC_000007.13:g.73947480_73947482dup, NM_025042.2:c.458_461del, NM_025042.2:c.459_461del, NM_025042.2:c.460_461del, NM_025042.2:c.461del, NM_025042.2:c.461dup, NM_025042.2:c.460_461dup, NM_025042.2:c.459_461dup, NM_025042.1:c.458_461del, NM_025042.1:c.459_461del, NM_025042.1:c.460_461del, NM_025042.1:c.461del, NM_025042.1:c.461dup, NM_025042.1:c.460_461dup, NM_025042.1:c.459_461dup, NM_001039145.1:c.458_461del, NM_001039145.1:c.459_461del, NM_001039145.1:c.460_461del, NM_001039145.1:c.461del, NM_001039145.1:c.461dup, NM_001039145.1:c.460_461dup, NM_001039145.1:c.459_461dup, XR_007060383.1:n.558_561del, XR_007060383.1:n.559_561del, XR_007060383.1:n.560_561del, XR_007060383.1:n.561del, XR_007060383.1:n.561dup, XR_007060383.1:n.560_561dup, XR_007060383.1:n.559_561dup

Select item 149134685612.

rs1491346856 has merged into rs150478733 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT,GTGTGT,GTGTGTGT,GTGTGTGTGT [Show Flanks]
Chromosome:: 7:74478467 (GRCh38)
7:73892797 (GRCh37)
Canonical SPDI:: NC_000007.14:74478451:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000007.14:74478451:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000007.14:74478451:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000007.14:74478451:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:74478451:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: GTF2IRD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.13427/134 (GoNL)
-=0.15335/768 (1000Genomes)
HGVS:: NC_000007.14:g.74478453GT[7], NC_000007.14:g.74478453GT[8], NC_000007.14:g.74478453GT[10], NC_000007.14:g.74478453GT[11], NC_000007.14:g.74478453GT[12], NC_000007.13:g.73892783GT[7], NC_000007.13:g.73892783GT[8], NC_000007.13:g.73892783GT[10], NC_000007.13:g.73892783GT[11], NC_000007.13:g.73892783GT[12], NG_027954.2:g.29549GT[7], NG_027954.2:g.29549GT[8], NG_027954.2:g.29549GT[10], NG_027954.2:g.29549GT[11], NG_027954.2:g.29549GT[12], NG_027954.1:g.29664GT[7], NG_027954.1:g.29664GT[8], NG_027954.1:g.29664GT[10], NG_027954.1:g.29664GT[11], NG_027954.1:g.29664GT[12], NW_003871064.1:g.2007689GT[7], NW_003871064.1:g.2007689GT[8], NW_003871064.1:g.2007689GT[10], NW_003871064.1:g.2007689GT[11], NW_003871064.1:g.2007689GT[12]

Select item 149131745313.

rs1491317453 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 7:74478451 (GRCh38)
7:73892781 (GRCh37)
Canonical SPDI:: NC_000007.14:74478450:TT:
Gene:: GTF2IRD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000142/2 (ALFA)
-=0.000044/6 (GnomAD)
HGVS:: NC_000007.14:g.74478451_74478452del, NC_000007.13:g.73892781_73892782del, NG_027954.2:g.29547_29548del, NG_027954.1:g.29662_29663del, NW_003871064.1:g.2007687_2007688del

Select item 149129208814.

rs1491292088 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:74474082 (GRCh38)
7:73888412 (GRCh37)
Canonical SPDI:: NC_000007.14:74474080:ACA:A
Gene:: GTF2IRD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.00004/1 (TOMMO)
-=0.00071/19 (GnomAD)
HGVS:: NC_000007.14:g.74474082_74474083del, NC_000007.13:g.73888412_73888413del, NG_027954.2:g.25178_25179del, NG_027954.1:g.25293_25294del, NW_003871064.1:g.2003318_2003319del

Select item 149128559015.

rs1491285590 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:74593732 (GRCh38)
7:74008059 (GRCh37)
Canonical SPDI:: NC_000007.14:74593731:CA:
Gene:: GTF2IRD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.74593732_74593733del, NW_003871064.1:g.2122968_2122969del, NG_027954.2:g.144828_144829del, NG_027954.1:g.144940_144941del, NC_000007.13:g.74008059_74008060del

Select item 149125281016.

rs1491252810 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 7:74517400 (GRCh38)
7:73931730 (GRCh37)
Canonical SPDI:: NC_000007.14:74517396:CTCTC:CTC
Gene:: GTF2IRD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTC=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.74517398TC[1], NW_003871064.1:g.2046634TC[1], NG_027954.2:g.68494TC[1], NG_027954.1:g.68609TC[1], NC_000007.13:g.73931728TC[1]

Select item 149123204417.

rs1491232044 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 7:74496481 (GRCh38)
7:73910811 (GRCh37)
Canonical SPDI:: NC_000007.14:74496479:CAC:C
Gene:: GTF2IRD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.000032/4 (GnomAD)
-=0.000332/6 (TOMMO)
-=0.001645/3 (Korea1K)
HGVS:: NC_000007.14:g.74496481_74496482del, NC_000007.13:g.73910811_73910812del, NG_027954.2:g.47577_47578del, NG_027954.1:g.47692_47693del, NW_003871064.1:g.2025717_2025718del

Select item 149121803918.

rs1491218039 has merged into rs57578830 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A [Show Flanks]
Chromosome:: 7:74575112 (GRCh38)
7:73989442 (GRCh37)
Canonical SPDI:: NC_000007.14:74575105:AAAAAAAA:AAAAAA,NC_000007.14:74575105:AAAAAAAA:AAAAAAA
Gene:: GTF2IRD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0.00246/11 (ALFA)
A=0./0 (1000Genomes)
A=0./0 (GENOME_DK)
A=0./0 (GoNL)
A=0./0 (Korea1K)
A=0.00007/1 (TOMMO)
A=0.00167/1 (NorthernSweden)
HGVS:: NC_000007.14:g.74575112_74575113del, NC_000007.14:g.74575113del, NW_003871064.1:g.2104348_2104349del, NW_003871064.1:g.2104349del, NG_027954.2:g.126208_126209del, NG_027954.2:g.126209del, NG_027954.1:g.126323_126324del, NG_027954.1:g.126324del, NC_000007.13:g.73989442_73989443del, NC_000007.13:g.73989443del

Select item 149121098719.

rs1491210987 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 7:74533133 (GRCh38)
7:73947463 (GRCh37)
Canonical SPDI:: NC_000007.14:74533132:AT:
Gene:: GTF2IRD1 (Varview), WBSCR23 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000007.14:g.74533133_74533134del, NW_003871064.1:g.2062369_2062370del, NG_027954.2:g.84229_84230del, NG_027954.1:g.84344_84345del, NC_000007.13:g.73947463_73947464del, NM_025042.2:c.442_443del, NM_025042.1:c.442_443del, NM_001039145.1:c.442_443del, XR_007060383.1:n.542_543del

Select item 149119488220.

rs1491194882 has merged into rs1156355118 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AA,AAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:74520780 (GRCh38)
7:73935110 (GRCh37)
Canonical SPDI:: NC_000007.14:74520769:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:74520769:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:74520769:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:74520769:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:74520769:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:74520769:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:74520769:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:74520769:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:74520769:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:74520769:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:74520769:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:74520769:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:74520769:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GTF2IRD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.74520780_74520790del, NC_000007.14:g.74520781_74520790del, NC_000007.14:g.74520782_74520790del, NC_000007.14:g.74520784_74520790del, NC_000007.14:g.74520787_74520790del, NC_000007.14:g.74520788_74520790del, NC_000007.14:g.74520789_74520790del, NC_000007.14:g.74520790del, NC_000007.14:g.74520790dup, NC_000007.14:g.74520789_74520790dup, NC_000007.14:g.74520788_74520790dup, NC_000007.14:g.74520787_74520790dup, NC_000007.14:g.74520783_74520790dup, NW_003871064.1:g.2050016_2050026del, NW_003871064.1:g.2050017_2050026del, NW_003871064.1:g.2050018_2050026del, NW_003871064.1:g.2050020_2050026del, NW_003871064.1:g.2050023_2050026del, NW_003871064.1:g.2050024_2050026del, NW_003871064.1:g.2050025_2050026del, NW_003871064.1:g.2050026del, NW_003871064.1:g.2050026dup, NW_003871064.1:g.2050025_2050026dup, NW_003871064.1:g.2050024_2050026dup, NW_003871064.1:g.2050023_2050026dup, NW_003871064.1:g.2050019_2050026dup, NG_027954.2:g.71876_71886del, NG_027954.2:g.71877_71886del, NG_027954.2:g.71878_71886del, NG_027954.2:g.71880_71886del, NG_027954.2:g.71883_71886del, NG_027954.2:g.71884_71886del, NG_027954.2:g.71885_71886del, NG_027954.2:g.71886del, NG_027954.2:g.71886dup, NG_027954.2:g.71885_71886dup, NG_027954.2:g.71884_71886dup, NG_027954.2:g.71883_71886dup, NG_027954.2:g.71879_71886dup, NG_027954.1:g.71991_72001del, NG_027954.1:g.71992_72001del, NG_027954.1:g.71993_72001del, NG_027954.1:g.71995_72001del, NG_027954.1:g.71998_72001del, NG_027954.1:g.71999_72001del, NG_027954.1:g.72000_72001del, NG_027954.1:g.72001del, NG_027954.1:g.72001dup, NG_027954.1:g.72000_72001dup, NG_027954.1:g.71999_72001dup, NG_027954.1:g.71998_72001dup, NG_027954.1:g.71994_72001dup, NC_000007.13:g.73935110_73935120del, NC_000007.13:g.73935111_73935120del, NC_000007.13:g.73935112_73935120del, NC_000007.13:g.73935114_73935120del, NC_000007.13:g.73935117_73935120del, NC_000007.13:g.73935118_73935120del, NC_000007.13:g.73935119_73935120del, NC_000007.13:g.73935120del, NC_000007.13:g.73935120dup, NC_000007.13:g.73935119_73935120dup, NC_000007.13:g.73935118_73935120dup, NC_000007.13:g.73935117_73935120dup, NC_000007.13:g.73935113_73935120dup

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