SNP Links for Gene (Select 284649) - SNP

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Select item 14914720871.

rs1491472087 has merged into rs61607767 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:183469016 (GRCh38)
1:183438151 (GRCh37)
Canonical SPDI:: NC_000001.11:183469005:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:183469005:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:183469005:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:183469005:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:183469005:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:183469005:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:183469005:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:183469005:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:183469005:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:183469005:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183469005:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183469005:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183469005:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183469005:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183469005:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183469005:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183469005:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SMG7-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.183469016_183469024del, NC_000001.11:g.183469017_183469024del, NC_000001.11:g.183469019_183469024del, NC_000001.11:g.183469020_183469024del, NC_000001.11:g.183469021_183469024del, NC_000001.11:g.183469022_183469024del, NC_000001.11:g.183469023_183469024del, NC_000001.11:g.183469024del, NC_000001.11:g.183469024dup, NC_000001.11:g.183469023_183469024dup, NC_000001.11:g.183469022_183469024dup, NC_000001.11:g.183469021_183469024dup, NC_000001.11:g.183469020_183469024dup, NC_000001.11:g.183469019_183469024dup, NC_000001.11:g.183469018_183469024dup, NC_000001.11:g.183469017_183469024dup, NC_000001.11:g.183469016_183469024dup, NC_000001.10:g.183438151_183438159del, NC_000001.10:g.183438152_183438159del, NC_000001.10:g.183438154_183438159del, NC_000001.10:g.183438155_183438159del, NC_000001.10:g.183438156_183438159del, NC_000001.10:g.183438157_183438159del, NC_000001.10:g.183438158_183438159del, NC_000001.10:g.183438159del, NC_000001.10:g.183438159dup, NC_000001.10:g.183438158_183438159dup, NC_000001.10:g.183438157_183438159dup, NC_000001.10:g.183438156_183438159dup, NC_000001.10:g.183438155_183438159dup, NC_000001.10:g.183438154_183438159dup, NC_000001.10:g.183438153_183438159dup, NC_000001.10:g.183438152_183438159dup, NC_000001.10:g.183438151_183438159dup, NG_029808.1:g.1646_1654del, NG_029808.1:g.1647_1654del, NG_029808.1:g.1649_1654del, NG_029808.1:g.1650_1654del, NG_029808.1:g.1651_1654del, NG_029808.1:g.1652_1654del, NG_029808.1:g.1653_1654del, NG_029808.1:g.1654del, NG_029808.1:g.1654dup, NG_029808.1:g.1653_1654dup, NG_029808.1:g.1652_1654dup, NG_029808.1:g.1651_1654dup, NG_029808.1:g.1650_1654dup, NG_029808.1:g.1649_1654dup, NG_029808.1:g.1648_1654dup, NG_029808.1:g.1647_1654dup, NG_029808.1:g.1646_1654dup

Select item 14914393162.

rs1491439316 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:183469005 (GRCh38)
1:183438140 (GRCh37)
Canonical SPDI:: NC_000001.11:183469004:CA:
Gene:: SMG7-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.183469005_183469006del, NC_000001.10:g.183438140_183438141del, NG_029808.1:g.1635_1636del

Select item 14913205473.

rs1491320547 has merged into rs35435672 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:183466440 (GRCh38)
1:183435575 (GRCh37)
Canonical SPDI:: NC_000001.11:183466431:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000001.11:183466431:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:183466431:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:183466431:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:183466431:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:183466431:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:183466431:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:183466431:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:183466431:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:183466431:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:183466431:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:183466431:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:183466431:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183466431:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183466431:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183466431:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183466431:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183466431:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183466431:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183466431:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183466431:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183466431:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183466431:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183466431:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183466431:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183466431:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183466431:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183466431:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183466431:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183466431:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183466431:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183466431:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183466431:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183466431:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183466431:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183466431:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183466431:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183466431:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183466431:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183466431:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183466431:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183466431:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183466431:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SMG7-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.183466440_183466452del, NC_000001.11:g.183466442_183466452del, NC_000001.11:g.183466443_183466452del, NC_000001.11:g.183466444_183466452del, NC_000001.11:g.183466445_183466452del, NC_000001.11:g.183466446_183466452del, NC_000001.11:g.183466447_183466452del, NC_000001.11:g.183466448_183466452del, NC_000001.11:g.183466449_183466452del, NC_000001.11:g.183466450_183466452del, NC_000001.11:g.183466451_183466452del, NC_000001.11:g.183466452del, NC_000001.11:g.183466452dup, NC_000001.11:g.183466451_183466452dup, NC_000001.11:g.183466450_183466452dup, NC_000001.11:g.183466449_183466452dup, NC_000001.11:g.183466448_183466452dup, NC_000001.11:g.183466447_183466452dup, NC_000001.11:g.183466446_183466452dup, NC_000001.11:g.183466445_183466452dup, NC_000001.11:g.183466444_183466452dup, NC_000001.11:g.183466443_183466452dup, NC_000001.11:g.183466442_183466452dup, NC_000001.11:g.183466441_183466452dup, NC_000001.11:g.183466440_183466452dup, NC_000001.11:g.183466437_183466452dup, NC_000001.11:g.183466436_183466452dup, NC_000001.11:g.183466435_183466452dup, NC_000001.11:g.183466434_183466452dup, NC_000001.11:g.183466433_183466452dup, NC_000001.11:g.183466452_183466453insAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.183466452_183466453insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.183466452_183466453insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.183466452_183466453insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.183466452_183466453insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.183466452_183466453insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.183466452_183466453insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.183466452_183466453insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.183466452_183466453insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.183466432_183466452A[30]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.183466432_183466452A[27]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.183466432_183466452A[25]GAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.183466432_183466452A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.183435575_183435587del, NC_000001.10:g.183435577_183435587del, NC_000001.10:g.183435578_183435587del, NC_000001.10:g.183435579_183435587del, NC_000001.10:g.183435580_183435587del, NC_000001.10:g.183435581_183435587del, NC_000001.10:g.183435582_183435587del, NC_000001.10:g.183435583_183435587del, NC_000001.10:g.183435584_183435587del, NC_000001.10:g.183435585_183435587del, NC_000001.10:g.183435586_183435587del, NC_000001.10:g.183435587del, NC_000001.10:g.183435587dup, NC_000001.10:g.183435586_183435587dup, NC_000001.10:g.183435585_183435587dup, NC_000001.10:g.183435584_183435587dup, NC_000001.10:g.183435583_183435587dup, NC_000001.10:g.183435582_183435587dup, NC_000001.10:g.183435581_183435587dup, NC_000001.10:g.183435580_183435587dup, NC_000001.10:g.183435579_183435587dup, NC_000001.10:g.183435578_183435587dup, NC_000001.10:g.183435577_183435587dup, NC_000001.10:g.183435576_183435587dup, NC_000001.10:g.183435575_183435587dup, NC_000001.10:g.183435572_183435587dup, NC_000001.10:g.183435571_183435587dup, NC_000001.10:g.183435570_183435587dup, NC_000001.10:g.183435569_183435587dup, NC_000001.10:g.183435568_183435587dup, NC_000001.10:g.183435587_183435588insAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.183435587_183435588insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.183435587_183435588insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.183435587_183435588insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.183435587_183435588insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.183435587_183435588insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.183435587_183435588insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.183435587_183435588insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.183435587_183435588insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.183435567_183435587A[30]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.183435567_183435587A[27]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.183435567_183435587A[25]GAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.183435567_183435587A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14912343604.

rs1491234360 has merged into rs61607767 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:183469016 (GRCh38)
1:183438151 (GRCh37)
Canonical SPDI:: NC_000001.11:183469005:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:183469005:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:183469005:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:183469005:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:183469005:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:183469005:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:183469005:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:183469005:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:183469005:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:183469005:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183469005:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183469005:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183469005:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183469005:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183469005:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183469005:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:183469005:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SMG7-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.183469016_183469024del, NC_000001.11:g.183469017_183469024del, NC_000001.11:g.183469019_183469024del, NC_000001.11:g.183469020_183469024del, NC_000001.11:g.183469021_183469024del, NC_000001.11:g.183469022_183469024del, NC_000001.11:g.183469023_183469024del, NC_000001.11:g.183469024del, NC_000001.11:g.183469024dup, NC_000001.11:g.183469023_183469024dup, NC_000001.11:g.183469022_183469024dup, NC_000001.11:g.183469021_183469024dup, NC_000001.11:g.183469020_183469024dup, NC_000001.11:g.183469019_183469024dup, NC_000001.11:g.183469018_183469024dup, NC_000001.11:g.183469017_183469024dup, NC_000001.11:g.183469016_183469024dup, NC_000001.10:g.183438151_183438159del, NC_000001.10:g.183438152_183438159del, NC_000001.10:g.183438154_183438159del, NC_000001.10:g.183438155_183438159del, NC_000001.10:g.183438156_183438159del, NC_000001.10:g.183438157_183438159del, NC_000001.10:g.183438158_183438159del, NC_000001.10:g.183438159del, NC_000001.10:g.183438159dup, NC_000001.10:g.183438158_183438159dup, NC_000001.10:g.183438157_183438159dup, NC_000001.10:g.183438156_183438159dup, NC_000001.10:g.183438155_183438159dup, NC_000001.10:g.183438154_183438159dup, NC_000001.10:g.183438153_183438159dup, NC_000001.10:g.183438152_183438159dup, NC_000001.10:g.183438151_183438159dup, NG_029808.1:g.1646_1654del, NG_029808.1:g.1647_1654del, NG_029808.1:g.1649_1654del, NG_029808.1:g.1650_1654del, NG_029808.1:g.1651_1654del, NG_029808.1:g.1652_1654del, NG_029808.1:g.1653_1654del, NG_029808.1:g.1654del, NG_029808.1:g.1654dup, NG_029808.1:g.1653_1654dup, NG_029808.1:g.1652_1654dup, NG_029808.1:g.1651_1654dup, NG_029808.1:g.1650_1654dup, NG_029808.1:g.1649_1654dup, NG_029808.1:g.1648_1654dup, NG_029808.1:g.1647_1654dup, NG_029808.1:g.1646_1654dup

Select item 14906624365.

rs1490662436 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:183472784 (GRCh38)
1:183441919 (GRCh37)
Canonical SPDI:: NC_000001.11:183472783:C:G
Gene:: SMG7 (Varview), SMG7-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.183472784C>G, NC_000001.10:g.183441919C>G, NG_029808.1:g.5414C>G

Select item 14905523006.

rs1490552300 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:183472719 (GRCh38)
1:183441854 (GRCh37)
Canonical SPDI:: NC_000001.11:183472718:C:A
Gene:: SMG7 (Varview), SMG7-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_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_000001.11:g.183472719C>A, NC_000001.10:g.183441854C>A, NG_029808.1:g.5349C>A

Select item 14905498657.

rs1490549865 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 1:183470914 (GRCh38)
1:183440049 (GRCh37)
Canonical SPDI:: NC_000001.11:183470913:C:A,NC_000001.11:183470913:C:G
Gene:: SMG7 (Varview), SMG7-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
A=0./0 (GnomAD)
HGVS:: NC_000001.11:g.183470914C>A, NC_000001.11:g.183470914C>G, NC_000001.10:g.183440049C>A, NC_000001.10:g.183440049C>G, NG_029808.1:g.3544C>A, NG_029808.1:g.3544C>G, NR_040063.1:n.1069G>T, NR_040063.1:n.1069G>C

Select item 14901706818.

rs1490170681 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:183473748 (GRCh38)
1:183442883 (GRCh37)
Canonical SPDI:: NC_000001.11:183473747:T:C
Gene:: SMG7 (Varview), SMG7-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000043/6 (GnomAD)
HGVS:: NC_000001.11:g.183473748T>C, NC_000001.10:g.183442883T>C, NG_029808.1:g.6378T>C, NM_001394134.1:c.-311T>C, NM_001394138.1:c.-311T>C, NM_001394140.1:c.-176T>C, NM_001394146.1:c.-176T>C, XM_011510205.4:c.-311T>C, XM_011510205.3:c.-311T>C, XM_011510205.2:c.-311T>C, XM_011510205.1:c.-311T>C, XM_011510206.4:c.-311T>C, XM_011510206.3:c.-311T>C, XM_011510206.2:c.-311T>C, XM_011510206.1:c.-311T>C, XM_011510207.4:c.-176T>C, XM_011510207.3:c.-176T>C, XM_011510207.2:c.-176T>C, XM_011510207.1:c.-176T>C

Select item 14900435929.

rs1490043592 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:183471819 (GRCh38)
1:183440954 (GRCh37)
Canonical SPDI:: NC_000001.11:183471818:C:T
Gene:: SMG7 (Varview), SMG7-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.183471819C>T, NC_000001.10:g.183440954C>T, NG_029808.1:g.4449C>T, NR_040063.1:n.164G>A

Select item 148971862710.

rs1489718627 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AACTTACAA [Show Flanks]
Chromosome:: 1:183466835 (GRCh38)
1:183435971 (GRCh37)
Canonical SPDI:: NC_000001.11:183466835:AAACTTACAA:AAACTTACAAAACTTACAA
Gene:: SMG7-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAACTTACAAAACTTACAA=0./0 (ALFA)
AAACTTACA=0.000004/1 (TOPMED)
AAACTTACA=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.183466837_183466845dup, NC_000001.10:g.183435972_183435980dup

Select item 148951108911.

rs1489511089 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:183468265 (GRCh38)
1:183437400 (GRCh37)
Canonical SPDI:: NC_000001.11:183468264:T:C
Gene:: SMG7-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
C=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.183468265T>C, NC_000001.10:g.183437400T>C, NG_029808.1:g.895T>C

Select item 148903876012.

rs1489038760 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:183464577 (GRCh38)
1:183433712 (GRCh37)
Canonical SPDI:: NC_000001.11:183464576:A:G
Gene:: SMG7-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.183464577A>G, NC_000001.10:g.183433712A>G

Select item 148801012313.

rs1488010123 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:183468631 (GRCh38)
1:183437766 (GRCh37)
Canonical SPDI:: NC_000001.11:183468630:A:G
Gene:: SMG7-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.183468631A>G, NC_000001.10:g.183437766A>G, NG_029808.1:g.1261A>G

Select item 148800877214.

rs1488008772 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:183461079 (GRCh38)
1:183430214 (GRCh37)
Canonical SPDI:: NC_000001.11:183461078:G:C
Gene:: SMG7-AS1 (Varview), LOC105371646 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.183461079G>C, NC_000001.10:g.183430214G>C, NR_040063.1:n.2251C>G

Select item 148799406115.

rs1487994061 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 1:183465824 (GRCh38)
1:183434959 (GRCh37)
Canonical SPDI:: NC_000001.11:183465823:C:
Gene:: SMG7-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.183465824del, NC_000001.10:g.183434959del

Select item 148788261016.

rs1487882610 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 1:183464580 (GRCh38)
1:183433715 (GRCh37)
Canonical SPDI:: NC_000001.11:183464579:C:A,NC_000001.11:183464579:C:G
Gene:: SMG7-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.183464580C>A, NC_000001.11:g.183464580C>G, NC_000001.10:g.183433715C>A, NC_000001.10:g.183433715C>G

Select item 148782149117.

rs1487821491 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:183463070 (GRCh38)
1:183432205 (GRCh37)
Canonical SPDI:: NC_000001.11:183463069:A:G
Gene:: SMG7-AS1 (Varview), LOC105371646 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000001.11:g.183463070A>G, NC_000001.10:g.183432205A>G

Select item 148778592918.

rs1487785929 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:183461559 (GRCh38)
1:183430694 (GRCh37)
Canonical SPDI:: NC_000001.11:183461558:C:T
Gene:: SMG7-AS1 (Varview), LOC105371646 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.183461559C>T, NC_000001.10:g.183430694C>T, NR_040063.1:n.1771G>A

Select item 148703732519.

rs1487037325 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:183461966 (GRCh38)
1:183431101 (GRCh37)
Canonical SPDI:: NC_000001.11:183461965:A:G
Gene:: SMG7-AS1 (Varview), LOC105371646 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.183461966A>G, NC_000001.10:g.183431101A>G

Select item 148674476020.

rs1486744760 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:183461064 (GRCh38)
1:183430199 (GRCh37)
Canonical SPDI:: NC_000001.11:183461063:T:G
Gene:: SMG7-AS1 (Varview), LOC105371646 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00003/8 (TOPMED)
G=0.000043/6 (GnomAD)
HGVS:: NC_000001.11:g.183461064T>G, NC_000001.10:g.183430199T>G, NR_040063.1:n.2266A>C

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