SNP Links for Gene (Select 3765) - SNP

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Select item 14910239941.

rs1491023994 has merged into rs34853229 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTTT [Show Flanks]
Chromosome:: 1:160081337 (GRCh38)
1:160051127 (GRCh37)
Canonical SPDI:: NC_000001.11:160081325:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:160081325:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:160081325:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:160081325:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:160081325:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:160081325:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: KCNJ9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.438/1688 (ALSPAC)
-=0.4482/1662 (TWINSUK)
-=0.4561/2284 (1000Genomes)
T=0.475/19 (GENOME_DK)
HGVS:: NC_000001.11:g.160081337_160081338del, NC_000001.11:g.160081338del, NC_000001.11:g.160081338dup, NC_000001.11:g.160081337_160081338dup, NC_000001.11:g.160081336_160081338dup, NC_000001.11:g.160081334_160081338dup, NC_000001.10:g.160051127_160051128del, NC_000001.10:g.160051128del, NC_000001.10:g.160051128dup, NC_000001.10:g.160051127_160051128dup, NC_000001.10:g.160051126_160051128dup, NC_000001.10:g.160051124_160051128dup

Select item 14908606472.

rs1490860647 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:160080700 (GRCh38)
1:160050490 (GRCh37)
Canonical SPDI:: NC_000001.11:160080699:G:C
Gene:: KCNJ9 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.160080700G>C, NC_000001.10:g.160050490G>C

Select item 14908520113.

rs1490852011 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:160066274 (GRCh38)
1:160036064 (GRCh37)
Canonical SPDI:: NC_000001.11:160066273:C:T
Gene:: KCNJ10 (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.160066274C>T, NC_000001.10:g.160036064C>T, NG_016411.1:g.8898G>A

Select item 14908171354.

rs1490817135 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:160074587 (GRCh38)
1:160044377 (GRCh37)
Canonical SPDI:: NC_000001.11:160074586:A:G,NC_000001.11:160074586:A:T
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.00006/1 (TOMMO)
HGVS:: NC_000001.11:g.160074587A>G, NC_000001.11:g.160074587A>T, NC_000001.10:g.160044377A>G, NC_000001.10:g.160044377A>T, NG_016411.1:g.585T>C, NG_016411.1:g.585T>A

Select item 14907490505.

rs1490749050 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:160061927 (GRCh38)
1:160031717 (GRCh37)
Canonical SPDI:: NC_000001.11:160061926:T:G
Gene:: KCNJ10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.160061927T>G, NC_000001.10:g.160031717T>G, NG_016411.1:g.13245A>C

Select item 14905654156.

rs1490565415 has merged into rs113437077 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG,GGG [Show Flanks]
Chromosome:: 1:160071893 (GRCh38)
1:160041683 (GRCh37)
Canonical SPDI:: NC_000001.11:160071892:GGGGGGG:GGGGGG,NC_000001.11:160071892:GGGGGGG:GGGGGGGG,NC_000001.11:160071892:GGGGGGG:GGGGGGGGG
Gene:: KCNJ10 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGG=0./0 (ALFA)
-=0.00004/1 (TOMMO)
-=0.025/1 (GENOME_DK)
-=0.025/15 (NorthernSweden)
-=0.02656/119 (Estonian)
-=0.03307/33 (GoNL)
-=0.04396/163 (TWINSUK)
-=0.048/185 (ALSPAC)
G=0.08446/423 (1000Genomes)
HGVS:: NC_000001.11:g.160071899del, NC_000001.11:g.160071899dup, NC_000001.11:g.160071898_160071899dup, NC_000001.10:g.160041689del, NC_000001.10:g.160041689dup, NC_000001.10:g.160041688_160041689dup, NG_016411.1:g.3279del, NG_016411.1:g.3279dup, NG_016411.1:g.3278_3279dup

Select item 14905498567.

rs1490549856 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:160079599 (GRCh38)
1:160049389 (GRCh37)
Canonical SPDI:: NC_000001.11:160079598:G:A
Gene:: KCNJ9 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.160079599G>A, NC_000001.10:g.160049389G>A

Select item 14905437208.

rs1490543720 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:160055877 (GRCh38)
1:160025667 (GRCh37)
Canonical SPDI:: NC_000001.11:160055876:C:T
Gene:: KCNJ10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.160055877C>T, NC_000001.10:g.160025667C>T, NG_016411.1:g.19295G>A

Select item 14904778619.

rs1490477861 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:160065014 (GRCh38)
1:160034804 (GRCh37)
Canonical SPDI:: NC_000001.11:160065013:T:C
Gene:: KCNJ10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.160065014T>C, NC_000001.10:g.160034804T>C, NG_016411.1:g.10158A>G

Select item 149044758910.

rs1490447589 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:160063981 (GRCh38)
1:160033771 (GRCh37)
Canonical SPDI:: NC_000001.11:160063980:G:A
Gene:: KCNJ10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.160063981G>A, NC_000001.10:g.160033771G>A, NG_016411.1:g.11191C>T

Select item 149039588311.

rs1490395883 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCACAGCCAGGGTCCTATGGG>-,GCACAGCCAGGGTCCTATGGGGCACAGCCAGGGTCCTATGGG [Show Flanks]
Chromosome:: 1:160089945 (GRCh38)
1:160059735 (GRCh37)
Canonical SPDI:: NC_000001.11:160089931:AGGGTCCTATGGGGCACAGCCAGGGTCCTATGGG:AGGGTCCTATGGG,NC_000001.11:160089931:AGGGTCCTATGGGGCACAGCCAGGGTCCTATGGG:AGGGTCCTATGGGGCACAGCCAGGGTCCTATGGGGCACAGCCAGGGTCCTATGGG
Gene:: KCNJ9 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGGGTCCTATGGGGCACAGCCAGGGTCCTATGGGGCACAGCCAGGGTCCTATGGG=0./0 (ALFA)
-=0.000023/6 (TOPMED)
-=0.002729/5 (Korea1K)
-=0.009768/164 (TOMMO)
AGGGTCCTATGGGGCACAGCC=0.014019/3 (Vietnamese)
HGVS:: NC_000001.11:g.160089945_160089965del, NC_000001.11:g.160089945_160089965dup, NC_000001.10:g.160059735_160059755del, NC_000001.10:g.160059735_160059755dup, NG_030031.1:g.13877_13897del, NG_030031.1:g.13877_13897dup, NM_004983.3:c.*2128_*2148del, NM_004983.3:c.*2128_*2148dup, XM_047419844.1:c.*2128_*2148del, XM_047419844.1:c.*2128_*2148dup, XM_047419850.1:c.*2128_*2148del, XM_047419850.1:c.*2128_*2148dup, XM_047419848.1:c.*2128_*2148del, XM_047419848.1:c.*2128_*2148dup, XM_047419846.1:c.*2128_*2148del, XM_047419846.1:c.*2128_*2148dup

Select item 149031527312.

rs1490315273 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:160064541 (GRCh38)
1:160034331 (GRCh37)
Canonical SPDI:: NC_000001.11:160064540:T:C
Gene:: KCNJ10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.160064541T>C, NC_000001.10:g.160034331T>C, NG_016411.1:g.10631A>G

Select item 149023195013.

rs1490231950 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:160089517 (GRCh38)
1:160059307 (GRCh37)
Canonical SPDI:: NC_000001.11:160089516:G:T
Gene:: KCNJ9 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.160089517G>T, NC_000001.10:g.160059307G>T, NG_030031.1:g.14312C>A, NM_004983.3:c.*1700G>T, XM_047419844.1:c.*1700G>T, XM_047419850.1:c.*1700G>T, XM_047419848.1:c.*1700G>T, XM_047419846.1:c.*1700G>T

Select item 148998362514.

rs1489983625 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:160064972 (GRCh38)
1:160034762 (GRCh37)
Canonical SPDI:: NC_000001.11:160064971:T:C
Gene:: KCNJ10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.160064972T>C, NC_000001.10:g.160034762T>C, NG_016411.1:g.10200A>G

Select item 148989505115.

rs1489895051 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:160063999 (GRCh38)
1:160033789 (GRCh37)
Canonical SPDI:: NC_000001.11:160063998:A:G
Gene:: KCNJ10 (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.160063999A>G, NC_000001.10:g.160033789A>G, NG_016411.1:g.11173T>C

Select item 148987514416.

rs1489875144 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:160079748 (GRCh38)
1:160049538 (GRCh37)
Canonical SPDI:: NC_000001.11:160079747:C:A
Gene:: KCNJ9 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000038/10 (TOPMED)
HGVS:: NC_000001.11:g.160079748C>A, NC_000001.10:g.160049538C>A

Select item 148980199117.

rs1489801991 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:160085851 (GRCh38)
1:160055641 (GRCh37)
Canonical SPDI:: NC_000001.11:160085850:C:T
Gene:: KCNJ9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.160085851C>T, NC_000001.10:g.160055641C>T

Select item 148979144518.

rs1489791445 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:160083637 (GRCh38)
1:160053427 (GRCh37)
Canonical SPDI:: NC_000001.11:160083636:C:G
Gene:: KCNJ9 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.160083637C>G, NC_000001.10:g.160053427C>G, XM_047419844.1:c.-223C>G, XM_047419848.1:c.-223C>G, XM_047419846.1:c.-223C>G

Select item 148974705019.

rs1489747050 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:160056434 (GRCh38)
1:160026224 (GRCh37)
Canonical SPDI:: NC_000001.11:160056433:C:G
Gene:: KCNJ10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.160056434C>G, NC_000001.10:g.160026224C>G, NG_016411.1:g.18738G>C

Select item 148970444220.

rs1489704442 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:160071356 (GRCh38)
1:160041146 (GRCh37)
Canonical SPDI:: NC_000001.11:160071355:C:T
Gene:: KCNJ10 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.160071356C>T, NC_000001.10:g.160041146C>T, NG_016411.1:g.3816G>A

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