SNP Links for Gene (Select 3753) - SNP

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Select item 14915087641.

rs1491508764 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 21:34511455 (GRCh38)
21:35883754 (GRCh37)
Canonical SPDI:: NC_000021.9:34511455::C
Gene:: KCNE1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000043/6 (GnomAD)
HGVS:: NC_000021.9:g.34511455_34511456insC, NC_000021.8:g.35883753_35883754insC, NG_009091.1:g.4860_4861insG

Select item 14909916862.

rs1490991686 [Homo sapiens]

Variant type:: SNV:
Alleles:: T>C
Chromosome:: no mapping
Canonical SPDI:

Select item 14908718133.

rs1490871813 [Homo sapiens]

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

Select item 14908622264.

rs1490862226 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:34451284 (GRCh38)
21:35823582 (GRCh37)
Canonical SPDI:: NC_000021.9:34451283:A:G
Gene:: KCNE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000021.9:g.34451284A>G, NC_000021.8:g.35823582A>G, NG_009091.1:g.65032T>C

Select item 14908472505.

rs1490847250 has merged into rs202246187 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 21:34453909 (GRCh38)
21:35826207 (GRCh37)
Canonical SPDI:: NC_000021.9:34453908:AAAAAAAAA:AAAAAAAA,NC_000021.9:34453908:AAAAAAAAA:AAAAAAAAAA
Gene:: KCNE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0.01645/252 (ALFA)
-=0.04785/802 (TOMMO)
-=0.04792/240 (1000Genomes)
-=0.04935/183 (TWINSUK)
-=0.05/2 (GENOME_DK)
-=0.05579/215 (ALSPAC)
-=0.05622/103 (Korea1K)
-=0.05639/241 (Estonian)
HGVS:: NC_000021.9:g.34453917del, NC_000021.9:g.34453917dup, NC_000021.8:g.35826215del, NC_000021.8:g.35826215dup, NG_009091.1:g.62407del, NG_009091.1:g.62407dup

Select item 14908133676.

rs1490813367 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>G
Chromosome:: no mapping
Canonical SPDI:

Select item 14906524037.

rs1490652403 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:34483831 (GRCh38)
21:35856129 (GRCh37)
Canonical SPDI:: NC_000021.9:34483830:C:A
Gene:: KCNE1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
HGVS:: NC_000021.9:g.34483831C>A, NC_000021.8:g.35856129C>A, NG_009091.1:g.32485G>T

Select item 14906461078.

rs1490646107 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:34503244 (GRCh38)
21:35875542 (GRCh37)
Canonical SPDI:: NC_000021.9:34503243:G:A
Gene:: KCNE1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000021.9:g.34503244G>A, NC_000021.8:g.35875542G>A, NG_009091.1:g.13072C>T

Select item 14904663379.

rs1490466337 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:34511041 (GRCh38)
21:35883339 (GRCh37)
Canonical SPDI:: NC_000021.9:34511040:G:A
Gene:: KCNE1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.34511041G>A, NC_000021.8:g.35883339G>A, NG_009091.1:g.5275C>T

Select item 149038488510.

rs1490384885 [Homo sapiens]

Variant type:: SNV:
Alleles:: G>A
Chromosome:: no mapping
Canonical SPDI:

Select item 149033607411.

rs1490336074 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 21:34502352 (GRCh38)
21:35874650 (GRCh37)
Canonical SPDI:: NC_000021.9:34502351:A:C
Gene:: KCNE1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.34502352A>C, NC_000021.8:g.35874650A>C, NG_009091.1:g.13964T>G

Select item 149029584912.

rs1490295849 [Homo sapiens]

Variant type:: SNV:
Alleles:: T>C
Chromosome:: no mapping
Canonical SPDI:

Select item 149021699613.

rs1490216996 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:34506181 (GRCh38)
21:35878479 (GRCh37)
Canonical SPDI:: NC_000021.9:34506180:C:G
Gene:: KCNE1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.34506181C>G, NC_000021.8:g.35878479C>G, NG_009091.1:g.10135G>C

Select item 149010740614.

rs1490107406 [Homo sapiens]

Variant type:: SNV:
Alleles:: C>A
Chromosome:: no mapping
Canonical SPDI:

Select item 148989315415.

rs1489893154 [Homo sapiens]

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

Select item 148987597316.

rs1489875973 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>G
Chromosome:: no mapping
Canonical SPDI:

Select item 148985440717.

rs1489854407 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:34502297 (GRCh38)
21:35874595 (GRCh37)
Canonical SPDI:: NC_000021.9:34502296:G:A
Gene:: KCNE1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.34502297G>A, NC_000021.8:g.35874595G>A, NG_009091.1:g.14019C>T

Select item 148983104418.

rs1489831044 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:34467635 (GRCh38)
21:35839933 (GRCh37)
Canonical SPDI:: NC_000021.9:34467634:A:G
Gene:: KCNE1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
HGVS:: NC_000021.9:g.34467635A>G, NC_000021.8:g.35839933A>G, NG_009091.1:g.48681T>C

Select item 148978362119.

rs1489783621 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:34449790 (GRCh38)
21:35822088 (GRCh37)
Canonical SPDI:: NC_000021.9:34449789:G:A
Gene:: KCNE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.34449790G>A, NC_000021.8:g.35822088G>A, NG_009091.1:g.66526C>T

Select item 148977037520.

rs1489770375 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:34458568 (GRCh38)
21:35830866 (GRCh37)
Canonical SPDI:: NC_000021.9:34458567:A:G
Gene:: KCNE1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
HGVS:: NC_000021.9:g.34458568A>G, NC_000021.8:g.35830866A>G, NG_009091.1:g.57748T>C

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