SNP Links for Gene (Select 57419) - SNP

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Select item 14915889401.

rs1491588940 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 20:19577080 (GRCh38)
20:19557724 (GRCh37)
Canonical SPDI:: NC_000020.11:19577077:AGAG:AG
Gene:: SLC24A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.19577078AG[1], NC_000020.10:g.19557722AG[1]

Select item 14915786322.

rs1491578632 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA [Show Flanks]
Chromosome:: 20:19325775 (GRCh38)
20:19306419 (GRCh37)
Canonical SPDI:: NC_000020.11:19325765:ATATATATATA:ATATATATA,NC_000020.11:19325765:ATATATATATA:ATATATATATATA,NC_000020.11:19325765:ATATATATATA:ATATATATATATATA,NC_000020.11:19325765:ATATATATATA:ATATATATATATATATA,NC_000020.11:19325765:ATATATATATA:ATATATATATATATATATA,NC_000020.11:19325765:ATATATATATA:ATATATATATATATATATATA,NC_000020.11:19325765:ATATATATATA:ATATATATATATATATATATATA,NC_000020.11:19325765:ATATATATATA:ATATATATATATATATATATATATA,NC_000020.11:19325765:ATATATATATA:ATATATATATATATATATATATATATA,NC_000020.11:19325765:ATATATATATA:ATATATATATATATATATATATATATATA,NC_000020.11:19325765:ATATATATATA:ATATATATATATATATATATATATATATATA
Gene:: SLC24A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATA=0./0 (ALFA)
ATATATATATATATATAT=0.000004/1 (TOPMED)
ATAT=0.001825/1 (NorthernSweden)
HGVS:: NC_000020.11:g.19325767TA[4], NC_000020.11:g.19325767TA[6], NC_000020.11:g.19325767TA[7], NC_000020.11:g.19325767TA[8], NC_000020.11:g.19325767TA[9], NC_000020.11:g.19325767TA[10], NC_000020.11:g.19325767TA[11], NC_000020.11:g.19325767TA[12], NC_000020.11:g.19325767TA[13], NC_000020.11:g.19325767TA[14], NC_000020.11:g.19325767TA[15], NC_000020.10:g.19306411TA[4], NC_000020.10:g.19306411TA[6], NC_000020.10:g.19306411TA[7], NC_000020.10:g.19306411TA[8], NC_000020.10:g.19306411TA[9], NC_000020.10:g.19306411TA[10], NC_000020.10:g.19306411TA[11], NC_000020.10:g.19306411TA[12], NC_000020.10:g.19306411TA[13], NC_000020.10:g.19306411TA[14], NC_000020.10:g.19306411TA[15]

Select item 14915735623.

rs1491573562 has merged into rs528342351 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:19424755 (GRCh38)
20:19405399 (GRCh37)
Canonical SPDI:: NC_000020.11:19424745:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000020.11:19424745:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:19424745:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:19424745:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:19424745:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:19424745:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:19424745:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:19424745:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:19424745:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:19424745:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:19424745:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:19424745:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:19424745:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:19424745:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:19424745:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:19424745:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:19424745:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:19424745:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:19424745:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:19424745:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:19424745:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:19424745:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:19424745:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:19424745:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:19424745:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:19424745:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:19424745:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:19424745:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:19424745:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:19424745:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:19424745:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:19424745:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:19424745:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:19424745:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:19424745:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:19424745:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:19424745:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SLC24A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000020.11:g.19424755_19424771del, NC_000020.11:g.19424756_19424771del, NC_000020.11:g.19424758_19424771del, NC_000020.11:g.19424759_19424771del, NC_000020.11:g.19424760_19424771del, NC_000020.11:g.19424761_19424771del, NC_000020.11:g.19424762_19424771del, NC_000020.11:g.19424763_19424771del, NC_000020.11:g.19424764_19424771del, NC_000020.11:g.19424765_19424771del, NC_000020.11:g.19424766_19424771del, NC_000020.11:g.19424767_19424771del, NC_000020.11:g.19424768_19424771del, NC_000020.11:g.19424769_19424771del, NC_000020.11:g.19424770_19424771del, NC_000020.11:g.19424771del, NC_000020.11:g.19424771dup, NC_000020.11:g.19424770_19424771dup, NC_000020.11:g.19424769_19424771dup, NC_000020.11:g.19424768_19424771dup, NC_000020.11:g.19424767_19424771dup, NC_000020.11:g.19424766_19424771dup, NC_000020.11:g.19424765_19424771dup, NC_000020.11:g.19424764_19424771dup, NC_000020.11:g.19424763_19424771dup, NC_000020.11:g.19424762_19424771dup, NC_000020.11:g.19424761_19424771dup, NC_000020.11:g.19424759_19424771dup, NC_000020.11:g.19424758_19424771dup, NC_000020.11:g.19424757_19424771dup, NC_000020.11:g.19424756_19424771dup, NC_000020.11:g.19424755_19424771dup, NC_000020.11:g.19424754_19424771dup, NC_000020.11:g.19424752_19424771dup, NC_000020.11:g.19424751_19424771dup, NC_000020.11:g.19424747_19424771dup, NC_000020.11:g.19424771_19424772insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.19405399_19405415del, NC_000020.10:g.19405400_19405415del, NC_000020.10:g.19405402_19405415del, NC_000020.10:g.19405403_19405415del, NC_000020.10:g.19405404_19405415del, NC_000020.10:g.19405405_19405415del, NC_000020.10:g.19405406_19405415del, NC_000020.10:g.19405407_19405415del, NC_000020.10:g.19405408_19405415del, NC_000020.10:g.19405409_19405415del, NC_000020.10:g.19405410_19405415del, NC_000020.10:g.19405411_19405415del, NC_000020.10:g.19405412_19405415del, NC_000020.10:g.19405413_19405415del, NC_000020.10:g.19405414_19405415del, NC_000020.10:g.19405415del, NC_000020.10:g.19405415dup, NC_000020.10:g.19405414_19405415dup, NC_000020.10:g.19405413_19405415dup, NC_000020.10:g.19405412_19405415dup, NC_000020.10:g.19405411_19405415dup, NC_000020.10:g.19405410_19405415dup, NC_000020.10:g.19405409_19405415dup, NC_000020.10:g.19405408_19405415dup, NC_000020.10:g.19405407_19405415dup, NC_000020.10:g.19405406_19405415dup, NC_000020.10:g.19405405_19405415dup, NC_000020.10:g.19405403_19405415dup, NC_000020.10:g.19405402_19405415dup, NC_000020.10:g.19405401_19405415dup, NC_000020.10:g.19405400_19405415dup, NC_000020.10:g.19405399_19405415dup, NC_000020.10:g.19405398_19405415dup, NC_000020.10:g.19405396_19405415dup, NC_000020.10:g.19405395_19405415dup, NC_000020.10:g.19405391_19405415dup, NC_000020.10:g.19405415_19405416insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14915664444.

rs1491566444 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 20:19222490 (GRCh38)
20:19203134 (GRCh37)
Canonical SPDI:: NC_000020.11:19222489:AG:
Gene:: SLC24A3 (Varview), LOC124904879 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.19222490_19222491del, NC_000020.10:g.19203134_19203135del

Select item 14915564385.

rs1491556438 has merged into rs5840835 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG [Show Flanks]
Chromosome:: 20:19230667 (GRCh38)
20:19211311 (GRCh37)
Canonical SPDI:: NC_000020.11:19230661:GGGGGGGG:GGGGG,NC_000020.11:19230661:GGGGGGGG:GGGGGG,NC_000020.11:19230661:GGGGGGGG:GGGGGGG,NC_000020.11:19230661:GGGGGGGG:GGGGGGGGG,NC_000020.11:19230661:GGGGGGGG:GGGGGGGGGG,NC_000020.11:19230661:GGGGGGGG:GGGGGGGGGGG,NC_000020.11:19230661:GGGGGGGG:GGGGGGGGGGGG,NC_000020.11:19230661:GGGGGGGG:GGGGGGGGGGGGG
Gene:: SLC24A3 (Varview), LOC124904879 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
G=0.2005/1004 (1000Genomes)
HGVS:: NC_000020.11:g.19230667_19230669del, NC_000020.11:g.19230668_19230669del, NC_000020.11:g.19230669del, NC_000020.11:g.19230669dup, NC_000020.11:g.19230668_19230669dup, NC_000020.11:g.19230667_19230669dup, NC_000020.11:g.19230666_19230669dup, NC_000020.11:g.19230665_19230669dup, NC_000020.10:g.19211311_19211313del, NC_000020.10:g.19211312_19211313del, NC_000020.10:g.19211313del, NC_000020.10:g.19211313dup, NC_000020.10:g.19211312_19211313dup, NC_000020.10:g.19211311_19211313dup, NC_000020.10:g.19211310_19211313dup, NC_000020.10:g.19211309_19211313dup

Select item 14915518116.

rs1491551811 has merged into rs5840835 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG [Show Flanks]
Chromosome:: 20:19230667 (GRCh38)
20:19211311 (GRCh37)
Canonical SPDI:: NC_000020.11:19230661:GGGGGGGG:GGGGG,NC_000020.11:19230661:GGGGGGGG:GGGGGG,NC_000020.11:19230661:GGGGGGGG:GGGGGGG,NC_000020.11:19230661:GGGGGGGG:GGGGGGGGG,NC_000020.11:19230661:GGGGGGGG:GGGGGGGGGG,NC_000020.11:19230661:GGGGGGGG:GGGGGGGGGGG,NC_000020.11:19230661:GGGGGGGG:GGGGGGGGGGGG,NC_000020.11:19230661:GGGGGGGG:GGGGGGGGGGGGG
Gene:: SLC24A3 (Varview), LOC124904879 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
G=0.2005/1004 (1000Genomes)
HGVS:: NC_000020.11:g.19230667_19230669del, NC_000020.11:g.19230668_19230669del, NC_000020.11:g.19230669del, NC_000020.11:g.19230669dup, NC_000020.11:g.19230668_19230669dup, NC_000020.11:g.19230667_19230669dup, NC_000020.11:g.19230666_19230669dup, NC_000020.11:g.19230665_19230669dup, NC_000020.10:g.19211311_19211313del, NC_000020.10:g.19211312_19211313del, NC_000020.10:g.19211313del, NC_000020.10:g.19211313dup, NC_000020.10:g.19211312_19211313dup, NC_000020.10:g.19211311_19211313dup, NC_000020.10:g.19211310_19211313dup, NC_000020.10:g.19211309_19211313dup

Select item 14915511537.

rs1491551153 has merged into rs1176209950 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:19714415 (GRCh38)
20:19695059 (GRCh37)
Canonical SPDI:: NC_000020.11:19714405:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000020.11:19714405:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:19714405:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:19714405:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:19714405:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:19714405:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:19714405:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:19714405:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:19714405:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:19714405:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:19714405:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:19714405:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SLC24A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.19714415_19714426del, NC_000020.11:g.19714422_19714426del, NC_000020.11:g.19714424_19714426del, NC_000020.11:g.19714425_19714426del, NC_000020.11:g.19714426del, NC_000020.11:g.19714426dup, NC_000020.11:g.19714425_19714426dup, NC_000020.11:g.19714424_19714426dup, NC_000020.11:g.19714423_19714426dup, NC_000020.11:g.19714421_19714426dup, NC_000020.11:g.19714419_19714426dup, NC_000020.11:g.19714413_19714426dup, NC_000020.10:g.19695059_19695070del, NC_000020.10:g.19695066_19695070del, NC_000020.10:g.19695068_19695070del, NC_000020.10:g.19695069_19695070del, NC_000020.10:g.19695070del, NC_000020.10:g.19695070dup, NC_000020.10:g.19695069_19695070dup, NC_000020.10:g.19695068_19695070dup, NC_000020.10:g.19695067_19695070dup, NC_000020.10:g.19695065_19695070dup, NC_000020.10:g.19695063_19695070dup, NC_000020.10:g.19695057_19695070dup

Select item 14915420128.

rs1491542012 has merged into rs571225238 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 20:19419838 (GRCh38)
20:19400482 (GRCh37)
Canonical SPDI:: NC_000020.11:19419822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:19419822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:19419822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:19419822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:19419822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:19419822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:19419822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: SLC24A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.30052/1505 (1000Genomes)
-=0.4/16 (GENOME_DK)
HGVS:: NC_000020.11:g.19419838_19419840del, NC_000020.11:g.19419839_19419840del, NC_000020.11:g.19419840del, NC_000020.11:g.19419840dup, NC_000020.11:g.19419839_19419840dup, NC_000020.11:g.19419838_19419840dup, NC_000020.11:g.19419837_19419840dup, NC_000020.10:g.19400482_19400484del, NC_000020.10:g.19400483_19400484del, NC_000020.10:g.19400484del, NC_000020.10:g.19400484dup, NC_000020.10:g.19400483_19400484dup, NC_000020.10:g.19400482_19400484dup, NC_000020.10:g.19400481_19400484dup

Select item 14915412509.

rs1491541250 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:19256768 (GRCh38)
20:19237412 (GRCh37)
Canonical SPDI:: NC_000020.11:19256767:CA:
Gene:: SLC24A3 (Varview), SLC24A3-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000020.11:g.19256768_19256769del, NC_000020.10:g.19237412_19237413del

Select item 149153932910.

rs1491539329 has merged into rs763603062 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATATATATATATATATATATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATAT [Show Flanks]
Chromosome:: 20:19346073 (GRCh38)
20:19326717 (GRCh37)
Canonical SPDI:: NC_000020.11:19346063:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATAT,NC_000020.11:19346063:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATAT,NC_000020.11:19346063:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATAT,NC_000020.11:19346063:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATAT,NC_000020.11:19346063:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATAT,NC_000020.11:19346063:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATAT,NC_000020.11:19346063:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATAT,NC_000020.11:19346063:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATAT,NC_000020.11:19346063:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATAT,NC_000020.11:19346063:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATAT,NC_000020.11:19346063:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATAT,NC_000020.11:19346063:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATAT,NC_000020.11:19346063:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATAT,NC_000020.11:19346063:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATAT,NC_000020.11:19346063:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATAT,NC_000020.11:19346063:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATAT,NC_000020.11:19346063:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATAT,NC_000020.11:19346063:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATAT,NC_000020.11:19346063:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATAT,NC_000020.11:19346063:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000020.11:19346063:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000020.11:19346063:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000020.11:19346063:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000020.11:19346063:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000020.11:19346063:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
Gene:: SLC24A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATAT=0./0 (ALFA)
TATATATATATATATATATATATATATATA=0.225/9 (GENOME_DK)
HGVS:: NC_000020.11:g.19346065AT[4], NC_000020.11:g.19346065AT[5], NC_000020.11:g.19346065AT[6], NC_000020.11:g.19346065AT[7], NC_000020.11:g.19346065AT[8], NC_000020.11:g.19346065AT[9], NC_000020.11:g.19346065AT[10], NC_000020.11:g.19346065AT[11], NC_000020.11:g.19346065AT[12], NC_000020.11:g.19346065AT[13], NC_000020.11:g.19346065AT[14], NC_000020.11:g.19346065AT[15], NC_000020.11:g.19346065AT[16], NC_000020.11:g.19346065AT[17], NC_000020.11:g.19346065AT[18], NC_000020.11:g.19346065AT[19], NC_000020.11:g.19346065AT[20], NC_000020.11:g.19346065AT[21], NC_000020.11:g.19346065AT[23], NC_000020.11:g.19346065AT[24], NC_000020.11:g.19346065AT[25], NC_000020.11:g.19346065AT[26], NC_000020.11:g.19346065AT[27], NC_000020.11:g.19346065AT[28], NC_000020.11:g.19346065AT[30], NC_000020.10:g.19326709AT[4], NC_000020.10:g.19326709AT[5], NC_000020.10:g.19326709AT[6], NC_000020.10:g.19326709AT[7], NC_000020.10:g.19326709AT[8], NC_000020.10:g.19326709AT[9], NC_000020.10:g.19326709AT[10], NC_000020.10:g.19326709AT[11], NC_000020.10:g.19326709AT[12], NC_000020.10:g.19326709AT[13], NC_000020.10:g.19326709AT[14], NC_000020.10:g.19326709AT[15], NC_000020.10:g.19326709AT[16], NC_000020.10:g.19326709AT[17], NC_000020.10:g.19326709AT[18], NC_000020.10:g.19326709AT[19], NC_000020.10:g.19326709AT[20], NC_000020.10:g.19326709AT[21], NC_000020.10:g.19326709AT[23], NC_000020.10:g.19326709AT[24], NC_000020.10:g.19326709AT[25], NC_000020.10:g.19326709AT[26], NC_000020.10:g.19326709AT[27], NC_000020.10:g.19326709AT[28], NC_000020.10:g.19326709AT[30]

Select item 149153285911.

rs1491532859 [Homo sapiens]

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

Select item 149152851812.

rs1491528518 has merged into rs72580544 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT [Show Flanks]
Chromosome:: 20:19325730 (GRCh38)
20:19306374 (GRCh37)
Canonical SPDI:: NC_000020.11:19325721:ATATATATATAT:ATATATAT,NC_000020.11:19325721:ATATATATATAT:ATATATATAT,NC_000020.11:19325721:ATATATATATAT:ATATATATATATAT
Gene:: SLC24A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATAT=0./0 (ALFA)
-=0.21156/941 (Estonian)
-=0.21572/129 (NorthernSweden)
-=0.325/13 (GENOME_DK)
-=0.32827/1641 (1000Genomes)
HGVS:: NC_000020.11:g.19325722AT[4], NC_000020.11:g.19325722AT[5], NC_000020.11:g.19325722AT[7], NC_000020.10:g.19306366AT[4], NC_000020.10:g.19306366AT[5], NC_000020.10:g.19306366AT[7]

Select item 149152644413.

rs1491526444 has merged into rs534526265 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA [Show Flanks]
Chromosome:: 20:19714427 (GRCh38)
20:19695071 (GRCh37)
Canonical SPDI:: NC_000020.11:19714425:ACA:A,NC_000020.11:19714425:ACA:ACACA
Gene:: SLC24A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.34581/4102 (ALFA)
AC=0.294329/1474 (1000Genomes)
AC=0.350844/5605 (TOMMO)
-=0.434642/48327 (GnomAD)
HGVS:: NC_000020.11:g.19714427_19714428del, NC_000020.11:g.19714427_19714428dup, NC_000020.10:g.19695071_19695072del, NC_000020.10:g.19695071_19695072dup

Select item 149151992714.

rs1491519927 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AG [Show Flanks]
Chromosome:: 20:19440538 (GRCh38)
20:19421183 (GRCh37)
Canonical SPDI:: NC_000020.11:19440538:AGAGAGAGAG:AGAGAGAGAGAG
Gene:: SLC24A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAG=0.000071/1 (ALFA)
AG=0.000021/3 (GnomAD)
AG=0.000034/9 (TOPMED)
HGVS:: NC_000020.11:g.19440539AG[6], NC_000020.10:g.19421183AG[6]

Select item 149148531715.

rs1491485317 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 20:19714405 (GRCh38)
20:19695049 (GRCh37)
Canonical SPDI:: NC_000020.11:19714404:TA:
Gene:: SLC24A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00093/11 (ALFA)
HGVS:: NC_000020.11:g.19714405_19714406del, NC_000020.10:g.19695049_19695050del

Select item 149144936216.

rs1491449362 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGAG,TGTGAG [Show Flanks]
Chromosome:: 20:19224147 (GRCh38)
20:19204792 (GRCh37)
Canonical SPDI:: NC_000020.11:19224147:G:GTGAG,NC_000020.11:19224147:G:GTGTGAG
Gene:: SLC24A3 (Varview), LOC124904879 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGAG=0.00017/2 (ALFA)
HGVS:: NC_000020.11:g.19224148_19224149insTGAG, NC_000020.11:g.19224148GT[2]GAG[1], NC_000020.10:g.19204792_19204793insTGAG, NC_000020.10:g.19204792GT[2]GAG[1], XR_007067552.1:n.906_907insTGAG, XR_007067552.1:n.906GT[2]GAG[1]

Select item 149144701317.

rs1491447013 [Homo sapiens]

Variant type:: INS
Alleles:: ->TGTGTGTGT,TGTGTGTGTC [Show Flanks]
Chromosome:: 20:19646851 (GRCh38)
20:19627496 (GRCh37)
Canonical SPDI:: NC_000020.11:19646851::TGTGTGTGT,NC_000020.11:19646851::TGTGTGTGTC
Gene:: SLC24A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTC=0./0 (ALFA)
TGTGTGTGT=0.000015/2 (GnomAD)
TGTGTGTGT=0.000035/1 (TOMMO)
HGVS:: NC_000020.11:g.19646851_19646852insTGTGTGTGT, NC_000020.11:g.19646851_19646852insTGTGTGTGTC, NC_000020.10:g.19627495_19627496insTGTGTGTGT, NC_000020.10:g.19627495_19627496insTGTGTGTGTC

Select item 149144537718.

rs1491445377 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAG [Show Flanks]
Chromosome:: 20:19577078 (GRCh38)
20:19557723 (GRCh37)
Canonical SPDI:: NC_000020.11:19577078:GAG:GAGGAG
Gene:: SLC24A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GAGGAG=0./0 (ALFA)
GAG=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.19577079_19577081dup, NC_000020.10:g.19557723_19557725dup

Select item 149144198319.

rs1491441983 has merged into rs79213522 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACA>-,CA,CACA,CACACACA,CACACACACA,CACACACACACA [Show Flanks]
Chromosome:: 20:19711142 (GRCh38)
20:19691786 (GRCh37)
Canonical SPDI:: NC_000020.11:19711132:ACACACACACACACA:ACACACACA,NC_000020.11:19711132:ACACACACACACACA:ACACACACACA,NC_000020.11:19711132:ACACACACACACACA:ACACACACACACA,NC_000020.11:19711132:ACACACACACACACA:ACACACACACACACACA,NC_000020.11:19711132:ACACACACACACACA:ACACACACACACACACACA,NC_000020.11:19711132:ACACACACACACACA:ACACACACACACACACACACA
Gene:: SLC24A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACA=0./0 (ALFA)
-=0.0655/120 (Korea1K)
-=0.3687/368 (GoNL)
-=0.39/234 (NorthernSweden)
HGVS:: NC_000020.11:g.19711134CA[4], NC_000020.11:g.19711134CA[5], NC_000020.11:g.19711134CA[6], NC_000020.11:g.19711134CA[8], NC_000020.11:g.19711134CA[9], NC_000020.11:g.19711134CA[10], NC_000020.10:g.19691778CA[4], NC_000020.10:g.19691778CA[5], NC_000020.10:g.19691778CA[6], NC_000020.10:g.19691778CA[8], NC_000020.10:g.19691778CA[9], NC_000020.10:g.19691778CA[10]

Select item 149143758820.

rs1491437588 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>- [Show Flanks]
Chromosome:: 20:19223302 (GRCh38)
20:19203946 (GRCh37)
Canonical SPDI:: NC_000020.11:19223300:GCG:G
Gene:: SLC24A3 (Varview), LOC124904879 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.0106/41 (ALSPAC)
-=0.0116/43 (TWINSUK)
HGVS:: NC_000020.11:g.19223302_19223303del, NC_000020.10:g.19203946_19203947del, XR_007067552.1:n.60_61del

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