SNP Links for Gene (Select 2569) - SNP

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Select item 14915758701.

rs1491575870 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AG [Show Flanks]
Chromosome:: 6:89187204 (GRCh38)
6:89896924 (GRCh37)
Canonical SPDI:: NC_000006.12:89187204:G:GAG
Gene:: GABRR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GAG=0./0 (ALFA)
HGVS:: NC_000006.12:g.89187205_89187206insAG, NC_000006.11:g.89896924_89896925insAG

Select item 14915729872.

rs1491572987 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 6:89196878 (GRCh38)
6:89906598 (GRCh37)
Canonical SPDI:: NC_000006.12:89196878:G:GG
Gene:: GABRR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000006.12:g.89196879dup, NC_000006.11:g.89906598dup

Select item 14914922033.

rs1491492203 has merged into rs60158472 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:89210192 (GRCh38)
6:89919911 (GRCh37)
Canonical SPDI:: NC_000006.12:89210182:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000006.12:89210182:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:89210182:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:89210182:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:89210182:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:89210182:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:89210182:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:89210182:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:89210182:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:89210182:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:89210182:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:89210182:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:89210182:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89210182:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89210182:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89210182:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89210182:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89210182:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89210182:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89210182:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89210182:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89210182:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89210182:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89210182:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89210182:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GABRR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000006.12:g.89210192_89210211del, NC_000006.12:g.89210193_89210211del, NC_000006.12:g.89210194_89210211del, NC_000006.12:g.89210195_89210211del, NC_000006.12:g.89210196_89210211del, NC_000006.12:g.89210197_89210211del, NC_000006.12:g.89210198_89210211del, NC_000006.12:g.89210199_89210211del, NC_000006.12:g.89210200_89210211del, NC_000006.12:g.89210201_89210211del, NC_000006.12:g.89210202_89210211del, NC_000006.12:g.89210203_89210211del, NC_000006.12:g.89210204_89210211del, NC_000006.12:g.89210205_89210211del, NC_000006.12:g.89210206_89210211del, NC_000006.12:g.89210207_89210211del, NC_000006.12:g.89210208_89210211del, NC_000006.12:g.89210209_89210211del, NC_000006.12:g.89210210_89210211del, NC_000006.12:g.89210211del, NC_000006.12:g.89210211dup, NC_000006.12:g.89210210_89210211dup, NC_000006.12:g.89210209_89210211dup, NC_000006.12:g.89210207_89210211dup, NC_000006.12:g.89210206_89210211dup, NC_000006.11:g.89919911_89919930del, NC_000006.11:g.89919912_89919930del, NC_000006.11:g.89919913_89919930del, NC_000006.11:g.89919914_89919930del, NC_000006.11:g.89919915_89919930del, NC_000006.11:g.89919916_89919930del, NC_000006.11:g.89919917_89919930del, NC_000006.11:g.89919918_89919930del, NC_000006.11:g.89919919_89919930del, NC_000006.11:g.89919920_89919930del, NC_000006.11:g.89919921_89919930del, NC_000006.11:g.89919922_89919930del, NC_000006.11:g.89919923_89919930del, NC_000006.11:g.89919924_89919930del, NC_000006.11:g.89919925_89919930del, NC_000006.11:g.89919926_89919930del, NC_000006.11:g.89919927_89919930del, NC_000006.11:g.89919928_89919930del, NC_000006.11:g.89919929_89919930del, NC_000006.11:g.89919930del, NC_000006.11:g.89919930dup, NC_000006.11:g.89919929_89919930dup, NC_000006.11:g.89919928_89919930dup, NC_000006.11:g.89919926_89919930dup, NC_000006.11:g.89919925_89919930dup

Select item 14914399084.

rs1491439908 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:89201778 (GRCh38)
6:89911497 (GRCh37)
Canonical SPDI:: NC_000006.12:89201777:CA:
Gene:: GABRR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00118/14 (ALFA)
HGVS:: NC_000006.12:g.89201778_89201779del, NC_000006.11:g.89911497_89911498del

Select item 14913636105.

rs1491363610 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:89200241 (GRCh38)
6:89909960 (GRCh37)
Canonical SPDI:: NC_000006.12:89200240:CT:
Gene:: GABRR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.89200241_89200242del, NC_000006.11:g.89909960_89909961del

Select item 14913602956.

rs1491360295 has merged into rs10603486 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTAGATAATTATTTCTTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:89200250 (GRCh38)
6:89909969 (GRCh37)
Canonical SPDI:: NC_000006.12:89200241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000006.12:89200241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000006.12:89200241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:89200241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:89200241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:89200241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:89200241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:89200241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:89200241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:89200241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:89200241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:89200241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89200241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89200241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89200241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89200241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89200241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTAGATAATTATTTCTTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89200241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89200241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89200241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89200241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89200241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89200241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89200241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89200241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GABRR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.2043/1023 (1000Genomes)
-=0.325/13 (GENOME_DK)
HGVS:: NC_000006.12:g.89200250_89200265del, NC_000006.12:g.89200251_89200265del, NC_000006.12:g.89200252_89200265del, NC_000006.12:g.89200253_89200265del, NC_000006.12:g.89200256_89200265del, NC_000006.12:g.89200257_89200265del, NC_000006.12:g.89200258_89200265del, NC_000006.12:g.89200259_89200265del, NC_000006.12:g.89200260_89200265del, NC_000006.12:g.89200261_89200265del, NC_000006.12:g.89200262_89200265del, NC_000006.12:g.89200263_89200265del, NC_000006.12:g.89200264_89200265del, NC_000006.12:g.89200265del, NC_000006.12:g.89200265dup, NC_000006.12:g.89200264_89200265dup, NC_000006.12:g.89200242_89200265T[26]AGATAATTATTTCTTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000006.12:g.89200263_89200265dup, NC_000006.12:g.89200262_89200265dup, NC_000006.12:g.89200261_89200265dup, NC_000006.12:g.89200260_89200265dup, NC_000006.12:g.89200259_89200265dup, NC_000006.12:g.89200258_89200265dup, NC_000006.12:g.89200257_89200265dup, NC_000006.12:g.89200265_89200266insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.89909969_89909984del, NC_000006.11:g.89909970_89909984del, NC_000006.11:g.89909971_89909984del, NC_000006.11:g.89909972_89909984del, NC_000006.11:g.89909975_89909984del, NC_000006.11:g.89909976_89909984del, NC_000006.11:g.89909977_89909984del, NC_000006.11:g.89909978_89909984del, NC_000006.11:g.89909979_89909984del, NC_000006.11:g.89909980_89909984del, NC_000006.11:g.89909981_89909984del, NC_000006.11:g.89909982_89909984del, NC_000006.11:g.89909983_89909984del, NC_000006.11:g.89909984del, NC_000006.11:g.89909984dup, NC_000006.11:g.89909983_89909984dup, NC_000006.11:g.89909961_89909984T[26]AGATAATTATTTCTTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000006.11:g.89909982_89909984dup, NC_000006.11:g.89909981_89909984dup, NC_000006.11:g.89909980_89909984dup, NC_000006.11:g.89909979_89909984dup, NC_000006.11:g.89909978_89909984dup, NC_000006.11:g.89909977_89909984dup, NC_000006.11:g.89909976_89909984dup, NC_000006.11:g.89909984_89909985insTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14913158397.

rs1491315839 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 6:89210182 (GRCh38)
6:89919901 (GRCh37)
Canonical SPDI:: NC_000006.12:89210181:AT:
Gene:: GABRR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.89210182_89210183del, NC_000006.11:g.89919901_89919902del

Select item 14913142278.

rs1491314227 has merged into rs754802888 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:89184895 (GRCh38)
6:89894614 (GRCh37)
Canonical SPDI:: NC_000006.12:89184885:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000006.12:89184885:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:89184885:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:89184885:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:89184885:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:89184885:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:89184885:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:89184885:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:89184885:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89184885:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89184885:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89184885:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89184885:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89184885:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:89184885:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GABRR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000006.12:g.89184895_89184903del, NC_000006.12:g.89184899_89184903del, NC_000006.12:g.89184900_89184903del, NC_000006.12:g.89184901_89184903del, NC_000006.12:g.89184902_89184903del, NC_000006.12:g.89184903del, NC_000006.12:g.89184903dup, NC_000006.12:g.89184902_89184903dup, NC_000006.12:g.89184901_89184903dup, NC_000006.12:g.89184900_89184903dup, NC_000006.12:g.89184899_89184903dup, NC_000006.12:g.89184898_89184903dup, NC_000006.12:g.89184897_89184903dup, NC_000006.12:g.89184895_89184903dup, NC_000006.12:g.89184894_89184903dup, NC_000006.11:g.89894614_89894622del, NC_000006.11:g.89894618_89894622del, NC_000006.11:g.89894619_89894622del, NC_000006.11:g.89894620_89894622del, NC_000006.11:g.89894621_89894622del, NC_000006.11:g.89894622del, NC_000006.11:g.89894622dup, NC_000006.11:g.89894621_89894622dup, NC_000006.11:g.89894620_89894622dup, NC_000006.11:g.89894619_89894622dup, NC_000006.11:g.89894618_89894622dup, NC_000006.11:g.89894617_89894622dup, NC_000006.11:g.89894616_89894622dup, NC_000006.11:g.89894614_89894622dup, NC_000006.11:g.89894613_89894622dup

Select item 14912930229.

rs1491293022 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 6:89196831 (GRCh38)
6:89906550 (GRCh37)
Canonical SPDI:: NC_000006.12:89196829:AGA:A
Gene:: GABRR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.00013/11 (GnomAD)
HGVS:: NC_000006.12:g.89196831_89196832del, NC_000006.11:g.89906550_89906551del

Select item 149125171910.

rs1491251719 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 6:89196871 (GRCh38)
6:89906590 (GRCh37)
Canonical SPDI:: NC_000006.12:89196869:AGA:A
Gene:: GABRR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000047/6 (GnomAD)
HGVS:: NC_000006.12:g.89196871_89196872del, NC_000006.11:g.89906590_89906591del

Select item 149124974411.

rs1491249744 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 6:89196874 (GRCh38)
6:89906594 (GRCh37)
Canonical SPDI:: NC_000006.12:89196874:G:GG
Gene:: GABRR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000006.12:g.89196875dup, NC_000006.11:g.89906594dup

Select item 149122302012.

rs1491223020 has merged into rs549771676 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA [Show Flanks]
Chromosome:: 6:89196879 (GRCh38)
6:89906598 (GRCh37)
Canonical SPDI:: NC_000006.12:89196877:AGAGA:A,NC_000006.12:89196877:AGAGA:AGA
Gene:: GABRR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0./0 (ALFA)
-=0.00055/1 (Korea1K)
-=0.00074/12 (TOMMO)
-=0.00167/1 (NorthernSweden)
-=0.05/2 (GENOME_DK)
-=0.09871/366 (TWINSUK)
-=0.13311/513 (ALSPAC)
HGVS:: NC_000006.12:g.89196879_89196882del, NC_000006.12:g.89196879GA[1], NC_000006.11:g.89906598_89906601del, NC_000006.11:g.89906598GA[1]

Select item 149109646513.

rs1491096465 has merged into rs1389698035 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA [Show Flanks]
Chromosome:: 6:89196875 (GRCh38)
6:89906594 (GRCh37)
Canonical SPDI:: NC_000006.12:89196873:AGA:A,NC_000006.12:89196873:AGA:AGAGA
Gene:: GABRR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGAGA=0./0 (ALFA)
AG=0.000038/5 (GnomAD)
HGVS:: NC_000006.12:g.89196875_89196876del, NC_000006.12:g.89196875_89196876dup, NC_000006.11:g.89906594_89906595del, NC_000006.11:g.89906594_89906595dup

Select item 149109623814.

rs1491096238 has merged into rs56035443 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 6:89201790 (GRCh38)
6:89911509 (GRCh37)
Canonical SPDI:: NC_000006.12:89201778:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:89201778:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:89201778:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:89201778:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:89201778:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:89201778:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:89201778:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:89201778:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: GABRR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.3433/195 (NorthernSweden)
AA=0.475/19 (GENOME_DK)
HGVS:: NC_000006.12:g.89201790_89201795del, NC_000006.12:g.89201791_89201795del, NC_000006.12:g.89201792_89201795del, NC_000006.12:g.89201793_89201795del, NC_000006.12:g.89201794_89201795del, NC_000006.12:g.89201795del, NC_000006.12:g.89201795dup, NC_000006.12:g.89201793_89201795dup, NC_000006.11:g.89911509_89911514del, NC_000006.11:g.89911510_89911514del, NC_000006.11:g.89911511_89911514del, NC_000006.11:g.89911512_89911514del, NC_000006.11:g.89911513_89911514del, NC_000006.11:g.89911514del, NC_000006.11:g.89911514dup, NC_000006.11:g.89911512_89911514dup

Select item 149107794015.

rs1491077940 has merged into rs66539825 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 6:89183156 (GRCh38)
6:89892875 (GRCh37)
Canonical SPDI:: NC_000006.12:89183146:AAAAAAAAAAA:AAAAAAAAA,NC_000006.12:89183146:AAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:89183146:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:89183146:AAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:89183146:AAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:89183146:AAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:89183146:AAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:89183146:AAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: GABRR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.3984/1995 (1000Genomes)
HGVS:: NC_000006.12:g.89183156_89183157del, NC_000006.12:g.89183157del, NC_000006.12:g.89183157dup, NC_000006.12:g.89183156_89183157dup, NC_000006.12:g.89183155_89183157dup, NC_000006.12:g.89183154_89183157dup, NC_000006.12:g.89183153_89183157dup, NC_000006.12:g.89183152_89183157dup, NC_000006.11:g.89892875_89892876del, NC_000006.11:g.89892876del, NC_000006.11:g.89892876dup, NC_000006.11:g.89892875_89892876dup, NC_000006.11:g.89892874_89892876dup, NC_000006.11:g.89892873_89892876dup, NC_000006.11:g.89892872_89892876dup, NC_000006.11:g.89892871_89892876dup

Select item 149105811816.

rs1491058118 has merged into rs770657677 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAAA [Show Flanks]
Chromosome:: 6:89196869 (GRCh38)
6:89906588 (GRCh37)
Canonical SPDI:: NC_000006.12:89196867:AAA:A,NC_000006.12:89196867:AAA:AAAAA
Gene:: GABRR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.003/2 (NorthernSweden)
HGVS:: NC_000006.12:g.89196869_89196870del, NC_000006.12:g.89196869_89196870dup, NC_000006.11:g.89906588_89906589del, NC_000006.11:g.89906588_89906589dup

Select item 149100084217.

rs1491000842 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 6:89208564 (GRCh38)
6:89918283 (GRCh37)
Canonical SPDI:: NC_000006.12:89208563:CCCCC:CCCC
Gene:: GABRR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CCCC=0./0 (ALFA)
HGVS:: NC_000006.12:g.89208568del, NC_000006.11:g.89918287del

Select item 149095310418.

rs1490953104 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:89194589 (GRCh38)
6:89904308 (GRCh37)
Canonical SPDI:: NC_000006.12:89194588:T:C
Gene:: GABRR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000023/6 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000006.12:g.89194589T>C, NC_000006.11:g.89904308T>C

Select item 149091788319.

rs1490917883 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:89193731 (GRCh38)
6:89903450 (GRCh37)
Canonical SPDI:: NC_000006.12:89193730:A:G
Gene:: GABRR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.89193731A>G, NC_000006.11:g.89903450A>G

Select item 149088210020.

rs1490882100 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:89225459 (GRCh38)
6:89935178 (GRCh37)
Canonical SPDI:: NC_000006.12:89225458:C:T
Gene:: GABRR1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000551/9 (ALFA)
T=0.000428/54 (GnomAD)
HGVS:: NC_000006.12:g.89225459C>T, NC_000006.11:g.89935178C>T

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