SNP Links for Gene (Select 90231) - SNP

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Select item 14912402871.

rs1491240287 has merged into rs58794420 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA,CACACACA,CACACACACA,CACACACACACA [Show Flanks]
Chromosome:: 1:11926745 (GRCh38)
1:11986802 (GRCh37)
Canonical SPDI:: NC_000001.11:11926731:ACACACACACACACACA:ACACACACACACA,NC_000001.11:11926731:ACACACACACACACACA:ACACACACACACACA,NC_000001.11:11926731:ACACACACACACACACA:ACACACACACACACACACA,NC_000001.11:11926731:ACACACACACACACACA:ACACACACACACACACACACA,NC_000001.11:11926731:ACACACACACACACACA:ACACACACACACACACACACACA,NC_000001.11:11926731:ACACACACACACACACA:ACACACACACACACACACACACACA
Gene:: KIAA2013 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACA=0./0 (ALFA)
AC=0.125/5 (GENOME_DK)
AC=0.13705/614 (Estonian)
AC=0.19333/116 (NorthernSweden)
HGVS:: NC_000001.11:g.11926733CA[6], NC_000001.11:g.11926733CA[7], NC_000001.11:g.11926733CA[9], NC_000001.11:g.11926733CA[10], NC_000001.11:g.11926733CA[11], NC_000001.11:g.11926733CA[12], NC_000001.10:g.11986790CA[6], NC_000001.10:g.11986790CA[7], NC_000001.10:g.11986790CA[9], NC_000001.10:g.11986790CA[10], NC_000001.10:g.11986790CA[11], NC_000001.10:g.11986790CA[12], NG_060036.1:g.482CA[8], NG_060036.1:g.482CA[6], NG_060036.1:g.482CA[9], NG_060036.1:g.482CA[10], NG_060036.1:g.482CA[11], NG_060036.1:g.482CA[12]

Select item 14910798092.

rs1491079809 has merged into rs35030905 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:11927078 (GRCh38)
1:11987135 (GRCh37)
Canonical SPDI:: NC_000001.11:11927069:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000001.11:11927069:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:11927069:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:11927069:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:11927069:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:11927069:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:11927069:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:11927069:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:11927069:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:11927069:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:11927069:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:11927069:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:11927069:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:11927069:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:11927069:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:11927069:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: KIAA2013 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.425/17 (GENOME_DK)
HGVS:: NC_000001.11:g.11927078_11927090del, NC_000001.11:g.11927082_11927090del, NC_000001.11:g.11927083_11927090del, NC_000001.11:g.11927087_11927090del, NC_000001.11:g.11927088_11927090del, NC_000001.11:g.11927089_11927090del, NC_000001.11:g.11927090del, NC_000001.11:g.11927090dup, NC_000001.11:g.11927089_11927090dup, NC_000001.11:g.11927088_11927090dup, NC_000001.11:g.11927087_11927090dup, NC_000001.11:g.11927086_11927090dup, NC_000001.11:g.11927085_11927090dup, NC_000001.11:g.11927084_11927090dup, NC_000001.11:g.11927083_11927090dup, NC_000001.11:g.11927090_11927091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.11987135_11987147del, NC_000001.10:g.11987139_11987147del, NC_000001.10:g.11987140_11987147del, NC_000001.10:g.11987144_11987147del, NC_000001.10:g.11987145_11987147del, NC_000001.10:g.11987146_11987147del, NC_000001.10:g.11987147del, NC_000001.10:g.11987147dup, NC_000001.10:g.11987146_11987147dup, NC_000001.10:g.11987145_11987147dup, NC_000001.10:g.11987144_11987147dup, NC_000001.10:g.11987143_11987147dup, NC_000001.10:g.11987142_11987147dup, NC_000001.10:g.11987141_11987147dup, NC_000001.10:g.11987140_11987147dup, NC_000001.10:g.11987147_11987148insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14909685753.

rs1490968575 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:11921606 (GRCh38)
1:11981663 (GRCh37)
Canonical SPDI:: NC_000001.11:11921605:C:A
Gene:: KIAA2013 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.11921606C>A, NC_000001.10:g.11981663C>A

Select item 14906916984.

rs1490691698 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:11920794 (GRCh38)
1:11980851 (GRCh37)
Canonical SPDI:: NC_000001.11:11920793:A:T
Gene:: KIAA2013 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.11920794A>T, NC_000001.10:g.11980851A>T

Select item 14905632965.

rs1490563296 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:11928093 (GRCh38)
1:11988150 (GRCh37)
Canonical SPDI:: NC_000001.11:11928092:G:A,NC_000001.11:11928092:G:C
Gene:: KIAA2013 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.11928093G>A, NC_000001.11:g.11928093G>C, NC_000001.10:g.11988150G>A, NC_000001.10:g.11988150G>C

Select item 14903269606.

rs1490326960 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:11924943 (GRCh38)
1:11985001 (GRCh37)
Canonical SPDI:: NC_000001.11:11924943:AAA:AAAA
Gene:: KIAA2013 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.11924946dup, NC_000001.10:g.11985003dup

Select item 14898410717.

rs1489841071 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:11921804 (GRCh38)
1:11981861 (GRCh37)
Canonical SPDI:: NC_000001.11:11921803:C:T
Gene:: KIAA2013 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.11921804C>T, NC_000001.10:g.11981861C>T

Select item 14898357908.

rs1489835790 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:11923877 (GRCh38)
1:11983934 (GRCh37)
Canonical SPDI:: NC_000001.11:11923876:T:C
Gene:: KIAA2013 (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_000001.11:g.11923877T>C, NC_000001.10:g.11983934T>C

Select item 14897599819.

rs1489759981 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:11923535 (GRCh38)
1:11983592 (GRCh37)
Canonical SPDI:: NC_000001.11:11923534:G:A
Gene:: KIAA2013 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.11923535G>A, NC_000001.10:g.11983592G>A

Select item 148952438310.

rs1489524383 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:11928100 (GRCh38)
1:11988157 (GRCh37)
Canonical SPDI:: NC_000001.11:11928099:A:G
Gene:: KIAA2013 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.11928100A>G, NC_000001.10:g.11988157A>G

Select item 148929588611.

rs1489295886 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:11919662 (GRCh38)
1:11979719 (GRCh37)
Canonical SPDI:: NC_000001.11:11919661:A:G
Gene:: KIAA2013 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.11919662A>G, NC_000001.10:g.11979719A>G, NM_138346.3:c.*653T>C, NM_138346.2:c.*653T>C

Select item 148924154512.

rs1489241545 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:11919973 (GRCh38)
1:11980030 (GRCh37)
Canonical SPDI:: NC_000001.11:11919972:C:T
Gene:: KIAA2013 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.11919973C>T, NC_000001.10:g.11980030C>T, NM_138346.3:c.*342G>A, NM_138346.2:c.*342G>A

Select item 148904806213.

rs1489048062 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:11926680 (GRCh38)
1:11986737 (GRCh37)
Canonical SPDI:: NC_000001.11:11926679:G:A,NC_000001.11:11926679:G:T
Gene:: KIAA2013 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000029/4 (GnomAD)
T=0.000546/1 (Korea1K)
T=0.000566/9 (TOMMO)
HGVS:: NC_000001.11:g.11926680G>A, NC_000001.11:g.11926680G>T, NC_000001.10:g.11986737G>A, NC_000001.10:g.11986737G>T, NG_060036.1:g.429G>A, NG_060036.1:g.429G>T

Select item 148883282714.

rs1488832827 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 1:11921970 (GRCh38)
1:11982027 (GRCh37)
Canonical SPDI:: NC_000001.11:11921969:CC:C,NC_000001.11:11921969:CC:CCC
Gene:: KIAA2013 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.11921971del, NC_000001.11:g.11921971dup, NC_000001.10:g.11982028del, NC_000001.10:g.11982028dup

Select item 148870830115.

rs1488708301 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:11926062 (GRCh38)
1:11986119 (GRCh37)
Canonical SPDI:: NC_000001.11:11926061:G:A
Gene:: KIAA2013 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.11926062G>A, NC_000001.10:g.11986119G>A, NM_138346.3:c.176C>T, NM_138346.2:c.176C>T, NP_612355.1:p.Ala59Val

Select item 148825290616.

rs1488252906 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:11924248 (GRCh38)
1:11984305 (GRCh37)
Canonical SPDI:: NC_000001.11:11924247:G:A
Gene:: KIAA2013 (Varview)
Functional Consequence:: intron_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.11924248G>A, NC_000001.10:g.11984305G>A

Select item 148812054417.

rs1488120544 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGG>- [Show Flanks]
Chromosome:: 1:11925986 (GRCh38)
1:11986043 (GRCh37)
Canonical SPDI:: NC_000001.11:11925984:GCGG:G
Gene:: KIAA2013 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0./0 (GnomAD)
-=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.11925986_11925988del, NC_000001.10:g.11986043_11986045del, NM_138346.3:c.251_253del, NM_138346.2:c.251_253del, NP_612355.1:p.Pro84del

Select item 148793532418.

rs1487935324 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:11920724 (GRCh38)
1:11980781 (GRCh37)
Canonical SPDI:: NC_000001.11:11920723:T:C
Gene:: KIAA2013 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.11920724T>C, NC_000001.10:g.11980781T>C

Select item 148747898419.

rs1487478984 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:11926428 (GRCh38)
1:11986485 (GRCh37)
Canonical SPDI:: NC_000001.11:11926427:G:A
Gene:: KIAA2013 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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.11926428G>A, NC_000001.10:g.11986485G>A, NG_060036.1:g.177G>A, NM_138346.2:c.-191C>T

Select item 148726921820.

rs1487269218 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:11923789 (GRCh38)
1:11983847 (GRCh37)
Canonical SPDI:: NC_000001.11:11923789:G:GG
Gene:: KIAA2013 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000001.11:g.11923790dup, NC_000001.10:g.11983847dup

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