SNP Links for Nucleotide (Select 1151327789) - SNP

Links from Nucleotide

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Select item 14898356261.

rs1489835626 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:32552288 (GRCh38)
9:32552286 (GRCh37)
Canonical SPDI:: NC_000009.12:32552287:C:G
Gene:: TOPORS (Varview), SMIM27 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.32552288C>G, NC_000009.11:g.32552286C>G, NG_011511.1:g.25897G>C, NG_017050.1:g.5337G>C, NM_001349119.2:c.-147C>G, NM_001349119.1:c.-147C>G, NR_033992.2:n.146C>G, NR_033991.1:n.605C>G, NM_001349118.1:c.-147C>G, NR_146061.1:n.55C>G, NR_102376.1:n.55C>G, NR_146063.1:n.55C>G, NR_102377.1:n.55C>G

Select item 14880090762.

rs1488009076 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:32566678 (GRCh38)
9:32566676 (GRCh37)
Canonical SPDI:: NC_000009.12:32566677:T:C
Gene:: NDUFB6 (Varview), SMIM27 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000009.12:g.32566678T>C, NC_000009.11:g.32566676T>C, NG_023797.3:g.677A>G, NG_011511.1:g.11507A>G, NR_146061.1:n.766T>C, NR_102376.1:n.766T>C, NR_146063.1:n.534T>C, NR_102377.1:n.534T>C

Select item 14875249193.

rs1487524919 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 9:32566596 (GRCh38)
9:32566594 (GRCh37)
Canonical SPDI:: NC_000009.12:32566595:CCC:CC
Gene:: NDUFB6 (Varview), SMIM27 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.32566598del, NC_000009.11:g.32566596del, NG_023797.3:g.759del, NG_011511.1:g.11589del, NR_146061.1:n.686del, NR_102376.1:n.686del, NR_146063.1:n.454del, NR_102377.1:n.454del

Select item 14864370254.

rs1486437025 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:32552350 (GRCh38)
9:32552348 (GRCh37)
Canonical SPDI:: NC_000009.12:32552349:T:G
Gene:: TOPORS (Varview), SMIM27 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,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_000009.12:g.32552350T>G, NC_000009.11:g.32552348T>G, NG_011511.1:g.25835A>C, NG_017050.1:g.5275A>C, NM_001349119.2:c.-85T>G, NM_001349119.1:c.-85T>G, NR_033992.2:n.208T>G, NR_033991.1:n.667T>G, NM_001349118.1:c.-85T>G, NR_146061.1:n.117T>G, NR_102376.1:n.117T>G, NR_146063.1:n.117T>G, NR_102377.1:n.117T>G, NM_001387564.1:c.-85T>G

Select item 14855661705.

rs1485566170 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 9:32552326 (GRCh38)
9:32552324 (GRCh37)
Canonical SPDI:: NC_000009.12:32552325:C:A,NC_000009.12:32552325:C:G,NC_000009.12:32552325:C:T
Gene:: TOPORS (Varview), SMIM27 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000007/1 (GnomAD_exomes)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000009.12:g.32552326C>A, NC_000009.12:g.32552326C>G, NC_000009.12:g.32552326C>T, NC_000009.11:g.32552324C>A, NC_000009.11:g.32552324C>G, NC_000009.11:g.32552324C>T, NG_011511.1:g.25859G>T, NG_011511.1:g.25859G>C, NG_011511.1:g.25859G>A, NG_017050.1:g.5299G>T, NG_017050.1:g.5299G>C, NG_017050.1:g.5299G>A, NM_001349119.2:c.-109C>A, NM_001349119.2:c.-109C>G, NM_001349119.2:c.-109C>T, NM_001349119.1:c.-109C>A, NM_001349119.1:c.-109C>G, NM_001349119.1:c.-109C>T, NR_033992.2:n.184C>A, NR_033992.2:n.184C>G, NR_033992.2:n.184C>T, NR_033991.1:n.643C>A, NR_033991.1:n.643C>G, NR_033991.1:n.643C>T, NM_001349118.1:c.-109C>A, NM_001349118.1:c.-109C>G, NM_001349118.1:c.-109C>T, NR_146061.1:n.93C>A, NR_146061.1:n.93C>G, NR_146061.1:n.93C>T, NR_102376.1:n.93C>A, NR_102376.1:n.93C>G, NR_102376.1:n.93C>T, NR_146063.1:n.93C>A, NR_146063.1:n.93C>G, NR_146063.1:n.93C>T, NR_102377.1:n.93C>A, NR_102377.1:n.93C>G, NR_102377.1:n.93C>T

Select item 14851710076.

rs1485171007 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:32552251 (GRCh38)
9:32552249 (GRCh37)
Canonical SPDI:: NC_000009.12:32552250:T:C
Gene:: TOPORS (Varview), SMIM27 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.32552251T>C, NC_000009.11:g.32552249T>C, NG_011511.1:g.25934A>G, NG_017050.1:g.5374A>G, NM_001349119.2:c.-184T>C, NM_001349119.1:c.-184T>C, NR_033992.2:n.109T>C, NR_033991.1:n.568T>C, NM_001349118.1:c.-184T>C, NR_146061.1:n.18T>C, NR_102376.1:n.18T>C, NR_146063.1:n.18T>C, NR_102377.1:n.18T>C

Select item 14850978557.

rs1485097855 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:32565495 (GRCh38)
9:32565493 (GRCh37)
Canonical SPDI:: NC_000009.12:32565494:A:C
Gene:: NDUFB6 (Varview), SMIM27 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000009.12:g.32565495A>C, NC_000009.11:g.32565493A>C, NG_011511.1:g.12690T>G, NR_146061.1:n.345A>C, NR_102376.1:n.345A>C

Select item 14835562308.

rs1483556230 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:32552379 (GRCh38)
9:32552377 (GRCh37)
Canonical SPDI:: NC_000009.12:32552378:T:C
Gene:: TOPORS (Varview), SMIM27 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.32552379T>C, NC_000009.11:g.32552377T>C, NG_011511.1:g.25806A>G, NG_017050.1:g.5246A>G, NM_001349119.2:c.-56T>C, NM_001349119.1:c.-56T>C, NR_033992.2:n.237T>C, NR_033991.1:n.696T>C, NM_001349118.1:c.-56T>C, NR_146061.1:n.146T>C, NR_102376.1:n.146T>C, NR_146063.1:n.146T>C, NR_102377.1:n.146T>C, NM_001387564.1:c.-56T>C

Select item 14807360749.

rs1480736074 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAC>- [Show Flanks]
Chromosome:: 9:32565612 (GRCh38)
9:32565610 (GRCh37)
Canonical SPDI:: NC_000009.12:32565608:GACGAC:GAC
Gene:: NDUFB6 (Varview), SMIM27 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GACGAC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.32565609GAC[1], NC_000009.11:g.32565607GAC[1], NG_011511.1:g.12571GTC[1], NR_146061.1:n.459GAC[1], NR_102376.1:n.459GAC[1]

Select item 147954570710.

rs1479545707 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:32566598 (GRCh38)
9:32566596 (GRCh37)
Canonical SPDI:: NC_000009.12:32566597:C:T
Gene:: NDUFB6 (Varview), SMIM27 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00003/8 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000009.12:g.32566598C>T, NC_000009.11:g.32566596C>T, NG_023797.3:g.757G>A, NG_011511.1:g.11587G>A, NR_146061.1:n.686C>T, NR_102376.1:n.686C>T, NR_146063.1:n.454C>T, NR_102377.1:n.454C>T

Select item 147134341311.

rs1471343413 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:32565454 (GRCh38)
9:32565452 (GRCh37)
Canonical SPDI:: NC_000009.12:32565453:G:A
Gene:: NDUFB6 (Varview), SMIM27 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_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_000009.12:g.32565454G>A, NC_000009.11:g.32565452G>A, NG_011511.1:g.12731C>T, NR_146061.1:n.304G>A, NR_102376.1:n.304G>A

Select item 146752902812.

rs1467529028 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 9:32552290 (GRCh38)
9:32552288 (GRCh37)
Canonical SPDI:: NC_000009.12:32552289:A:C,NC_000009.12:32552289:A:G
Gene:: TOPORS (Varview), SMIM27 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000009.12:g.32552290A>C, NC_000009.12:g.32552290A>G, NC_000009.11:g.32552288A>C, NC_000009.11:g.32552288A>G, NG_011511.1:g.25895T>G, NG_011511.1:g.25895T>C, NG_017050.1:g.5335T>G, NG_017050.1:g.5335T>C, NM_001349119.2:c.-145A>C, NM_001349119.2:c.-145A>G, NM_001349119.1:c.-145A>C, NM_001349119.1:c.-145A>G, NR_033992.2:n.148A>C, NR_033992.2:n.148A>G, NR_033991.1:n.607A>C, NR_033991.1:n.607A>G, NM_001349118.1:c.-145A>C, NM_001349118.1:c.-145A>G, NR_146061.1:n.57A>C, NR_146061.1:n.57A>G, NR_102376.1:n.57A>C, NR_102376.1:n.57A>G, NR_146063.1:n.57A>C, NR_146063.1:n.57A>G, NR_102377.1:n.57A>C, NR_102377.1:n.57A>G

Select item 146714735313.

rs1467147353 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:32552424 (GRCh38)
9:32552422 (GRCh37)
Canonical SPDI:: NC_000009.12:32552423:G:A
Gene:: TOPORS (Varview), SMIM27 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.32552424G>A, NC_000009.11:g.32552422G>A, NG_011511.1:g.25761C>T, NG_017050.1:g.5201C>T, NM_001349119.2:c.-11G>A, NM_001349119.1:c.-11G>A, NR_033992.2:n.282G>A, NR_033991.1:n.741G>A, NM_001349118.1:c.-11G>A, NR_146061.1:n.191G>A, NR_102376.1:n.191G>A, NR_146063.1:n.191G>A, NR_102377.1:n.191G>A, NM_001387564.1:c.-11G>A

Select item 146441614314.

rs1464416143 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:32566728 (GRCh38)
9:32566726 (GRCh37)
Canonical SPDI:: NC_000009.12:32566727:A:C
Gene:: NDUFB6 (Varview), SMIM27 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.32566728A>C, NC_000009.11:g.32566726A>C, NG_023797.3:g.627T>G, NG_011511.1:g.11457T>G, NR_146061.1:n.816A>C, NR_102376.1:n.816A>C, NR_146063.1:n.584A>C, NR_102377.1:n.584A>C

Select item 146344827715.

rs1463448277 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:32566458 (GRCh38)
9:32566456 (GRCh37)
Canonical SPDI:: NC_000009.12:32566457:C:G,NC_000009.12:32566457:C:T
Gene:: NDUFB6 (Varview), SMIM27 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.32566458C>G, NC_000009.12:g.32566458C>T, NC_000009.11:g.32566456C>G, NC_000009.11:g.32566456C>T, NG_023797.3:g.897G>C, NG_023797.3:g.897G>A, NG_011511.1:g.11727G>C, NG_011511.1:g.11727G>A, NR_146061.1:n.546C>G, NR_146061.1:n.546C>T, NR_102376.1:n.546C>G, NR_102376.1:n.546C>T, NR_146063.1:n.314C>G, NR_146063.1:n.314C>T, NR_102377.1:n.314C>G, NR_102377.1:n.314C>T

Select item 146340201416.

rs1463402014 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:32565570 (GRCh38)
9:32565568 (GRCh37)
Canonical SPDI:: NC_000009.12:32565569:A:G
Gene:: NDUFB6 (Varview), SMIM27 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_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_000009.12:g.32565570A>G, NC_000009.11:g.32565568A>G, NG_011511.1:g.12615T>C, NR_146061.1:n.420A>G, NR_102376.1:n.420A>G

Select item 145832593417.

rs1458325934 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:32552442 (GRCh38)
9:32552440 (GRCh37)
Canonical SPDI:: NC_000009.12:32552441:C:A
Gene:: TOPORS (Varview), SMIM27 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,5_prime_UTR_variant
HGVS:: NC_000009.12:g.32552442C>A, NC_000009.11:g.32552440C>A, NG_011511.1:g.25743G>T, NG_017050.1:g.5183G>T, NM_005802.5:c.-6G>T, NM_005802.4:c.-6G>T, NM_001195622.2:c.-6G>T, NM_001195622.1:c.-6G>T, NM_001349119.2:c.8C>A, NM_001349119.1:c.8C>A, NR_033992.2:n.300C>A, NR_033991.1:n.759C>A, NM_001349118.1:c.8C>A, NR_146061.1:n.209C>A, NR_102376.1:n.209C>A, NR_146063.1:n.209C>A, NR_102377.1:n.209C>A, NM_001387564.1:c.8C>A, NP_001336048.1:p.Pro3Gln, NP_001336047.1:p.Pro3Gln, NP_001374493.1:p.Pro3Gln

Select item 145800637318.

rs1458006373 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:32566493 (GRCh38)
9:32566491 (GRCh37)
Canonical SPDI:: NC_000009.12:32566492:C:A
Gene:: NDUFB6 (Varview), SMIM27 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.32566493C>A, NC_000009.11:g.32566491C>A, NG_023797.3:g.862G>T, NG_011511.1:g.11692G>T, NR_146061.1:n.581C>A, NR_102376.1:n.581C>A, NR_146063.1:n.349C>A, NR_102377.1:n.349C>A

Select item 145714483919.

rs1457144839 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:32552418 (GRCh38)
9:32552416 (GRCh37)
Canonical SPDI:: NC_000009.12:32552417:G:A
Gene:: TOPORS (Varview), SMIM27 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,5_prime_UTR_variant
HGVS:: NC_000009.12:g.32552418G>A, NC_000009.11:g.32552416G>A, NG_011511.1:g.25767C>T, NG_017050.1:g.5207C>T, NM_001349119.2:c.-17G>A, NM_001349119.1:c.-17G>A, NR_033992.2:n.276G>A, NR_033991.1:n.735G>A, NM_001349118.1:c.-17G>A, NR_146061.1:n.185G>A, NR_102376.1:n.185G>A, NR_146063.1:n.185G>A, NR_102377.1:n.185G>A, NM_001387564.1:c.-17G>A

Select item 145684740220.

rs1456847402 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:32552254 (GRCh38)
9:32552252 (GRCh37)
Canonical SPDI:: NC_000009.12:32552253:C:G,NC_000009.12:32552253:C:T
Gene:: TOPORS (Varview), SMIM27 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000546/1 (Korea1K)
HGVS:: NC_000009.12:g.32552254C>G, NC_000009.12:g.32552254C>T, NC_000009.11:g.32552252C>G, NC_000009.11:g.32552252C>T, NG_011511.1:g.25931G>C, NG_011511.1:g.25931G>A, NG_017050.1:g.5371G>C, NG_017050.1:g.5371G>A, NM_001349119.2:c.-181C>G, NM_001349119.2:c.-181C>T, NM_001349119.1:c.-181C>G, NM_001349119.1:c.-181C>T, NR_033992.2:n.112C>G, NR_033992.2:n.112C>T, NR_033991.1:n.571C>G, NR_033991.1:n.571C>T, NM_001349118.1:c.-181C>G, NM_001349118.1:c.-181C>T, NR_146061.1:n.21C>G, NR_146061.1:n.21C>T, NR_102376.1:n.21C>G, NR_102376.1:n.21C>T, NR_146063.1:n.21C>G, NR_146063.1:n.21C>T, NR_102377.1:n.21C>G, NR_102377.1:n.21C>T

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