SNP Links for Nucleotide (Select 269847014) - SNP

Links from Nucleotide

Items: 1 to 20 of 22

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Select item 14907735191.

rs1490773519 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:119713714 (GRCh38)
12:120151519 (GRCh37)
Canonical SPDI:: NC_000012.12:119713713:C:T
Gene:: CIT (Varview), MIR1178 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
HGVS:: NC_000012.12:g.119713714C>T, NC_000012.11:g.120151519C>T, NG_029792.2:g.168606G>A, NG_029792.1:g.168577G>A, NR_031589.1:n.11G>A

Select item 14704792132.

rs1470479213 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:119713723 (GRCh38)
12:120151528 (GRCh37)
Canonical SPDI:: NC_000012.12:119713722:G:A,NC_000012.12:119713722:G:C
Gene:: CIT (Varview), MIR1178 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.119713723G>A, NC_000012.12:g.119713723G>C, NC_000012.11:g.120151528G>A, NC_000012.11:g.120151528G>C, NG_029792.2:g.168597C>T, NG_029792.2:g.168597C>G, NG_029792.1:g.168568C>T, NG_029792.1:g.168568C>G, NR_031589.1:n.2C>T, NR_031589.1:n.2C>G

Select item 14242473623.

rs1424247362 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:119713679 (GRCh38)
12:120151484 (GRCh37)
Canonical SPDI:: NC_000012.12:119713678:A:G
Gene:: CIT (Varview), MIR1178 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.119713679A>G, NC_000012.11:g.120151484A>G, NG_029792.2:g.168641T>C, NG_029792.1:g.168612T>C, NR_031589.1:n.46T>C

Select item 13482975994.

rs1348297599 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:119713670 (GRCh38)
12:120151475 (GRCh37)
Canonical SPDI:: NC_000012.12:119713669:C:A
Gene:: CIT (Varview), MIR1178 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.119713670C>A, NC_000012.11:g.120151475C>A, NG_029792.2:g.168650G>T, NG_029792.1:g.168621G>T, NR_031589.1:n.55G>T

Select item 12921050885.

rs1292105088 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:119713713 (GRCh38)
12:120151518 (GRCh37)
Canonical SPDI:: NC_000012.12:119713712:G:T
Gene:: CIT (Varview), MIR1178 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
HGVS:: NC_000012.12:g.119713713G>T, NC_000012.11:g.120151518G>T, NG_029792.2:g.168607C>A, NG_029792.1:g.168578C>A, NR_031589.1:n.12C>A

Select item 12882149726.

rs1288214972 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:119713689 (GRCh38)
12:120151494 (GRCh37)
Canonical SPDI:: NC_000012.12:119713688:G:A
Gene:: CIT (Varview), MIR1178 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000012.12:g.119713689G>A, NC_000012.11:g.120151494G>A, NG_029792.2:g.168631C>T, NG_029792.1:g.168602C>T, NR_031589.1:n.36C>T

Select item 12838173287.

rs1283817328 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:119713652 (GRCh38)
12:120151457 (GRCh37)
Canonical SPDI:: NC_000012.12:119713651:G:A
Gene:: CIT (Varview), MIR1178 (Varview)
Functional Consequence:: intron_variant,non_coding_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_000012.12:g.119713652G>A, NC_000012.11:g.120151457G>A, NG_029792.2:g.168668C>T, NG_029792.1:g.168639C>T, NR_031589.1:n.73C>T

Select item 12237861798.

rs1223786179 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:119713698 (GRCh38)
12:120151503 (GRCh37)
Canonical SPDI:: NC_000012.12:119713697:C:T
Gene:: CIT (Varview), MIR1178 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.119713698C>T, NC_000012.11:g.120151503C>T, NG_029792.2:g.168622G>A, NG_029792.1:g.168593G>A, NR_031589.1:n.27G>A

Select item 11871984309.

rs1187198430 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:119713647 (GRCh38)
12:120151452 (GRCh37)
Canonical SPDI:: NC_000012.12:119713646:T:C
Gene:: CIT (Varview), MIR1178 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.119713647T>C, NC_000012.11:g.120151452T>C, NG_029792.2:g.168673A>G, NG_029792.1:g.168644A>G, NM_007174.3:c.4182A>G, NM_007174.2:c.4182A>G, NM_001206999.2:c.4308A>G, NM_001206999.1:c.4308A>G, XM_006719206.3:c.4263A>G, XM_006719206.2:c.4263A>G, XM_006719206.1:c.4263A>G, XM_011537791.3:c.2910A>G, XM_011537791.2:c.2910A>G, XM_011537791.1:c.2910A>G, XM_011537783.2:c.4308A>G, XM_011537783.1:c.4308A>G, XM_011537784.2:c.4308A>G, XM_011537784.1:c.4308A>G, XM_011537785.2:c.4263A>G, XM_011537785.1:c.4263A>G, XM_017018736.2:c.4263A>G, XM_017018736.1:c.4263A>G, XM_017018735.2:c.4308A>G, XM_017018735.1:c.4308A>G, XM_017018737.2:c.4263A>G, XM_017018737.1:c.4263A>G, XM_011537787.2:c.4137A>G, XM_011537787.1:c.4137A>G, XM_011537788.2:c.4137A>G, XM_011537788.1:c.4137A>G, XM_011537789.2:c.2970A>G, XM_011537789.1:c.2970A>G, XM_011537790.2:c.2970A>G, XM_011537790.1:c.2970A>G, XM_047428134.1:c.4182A>G, NR_031589.1:n.78A>G

Select item 116141474710.

rs1161414747 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:119713637 (GRCh38)
12:120151442 (GRCh37)
Canonical SPDI:: NC_000012.12:119713636:T:A
Gene:: CIT (Varview), MIR1178 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.119713637T>A, NC_000012.11:g.120151442T>A, NG_029792.2:g.168683A>T, NG_029792.1:g.168654A>T, NM_007174.3:c.4192A>T, NM_007174.2:c.4192A>T, NM_001206999.2:c.4318A>T, NM_001206999.1:c.4318A>T, XM_006719206.3:c.4273A>T, XM_006719206.2:c.4273A>T, XM_006719206.1:c.4273A>T, XM_011537791.3:c.2920A>T, XM_011537791.2:c.2920A>T, XM_011537791.1:c.2920A>T, XM_011537783.2:c.4318A>T, XM_011537783.1:c.4318A>T, XM_011537784.2:c.4318A>T, XM_011537784.1:c.4318A>T, XM_011537785.2:c.4273A>T, XM_011537785.1:c.4273A>T, XM_017018736.2:c.4273A>T, XM_017018736.1:c.4273A>T, XM_017018735.2:c.4318A>T, XM_017018735.1:c.4318A>T, XM_017018737.2:c.4273A>T, XM_017018737.1:c.4273A>T, XM_011537787.2:c.4147A>T, XM_011537787.1:c.4147A>T, XM_011537788.2:c.4147A>T, XM_011537788.1:c.4147A>T, XM_011537789.2:c.2980A>T, XM_011537789.1:c.2980A>T, XM_011537790.2:c.2980A>T, XM_011537790.1:c.2980A>T, XM_047428134.1:c.4192A>T, NR_031589.1:n.88A>T, NP_009105.1:p.Met1398Leu, NP_001193928.1:p.Met1440Leu, XP_006719269.1:p.Met1425Leu, XP_011536093.1:p.Met974Leu, XP_011536085.1:p.Met1440Leu, XP_011536086.1:p.Met1440Leu, XP_011536087.1:p.Met1425Leu, XP_016874225.1:p.Met1425Leu, XP_016874224.1:p.Met1440Leu, XP_016874226.1:p.Met1425Leu, XP_011536089.1:p.Met1383Leu, XP_011536090.1:p.Met1383Leu, XP_011536091.1:p.Met994Leu, XP_011536092.1:p.Met994Leu, XP_047284090.1:p.Met1398Leu

Select item 100679312011.

rs1006793120 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:119713673 (GRCh38)
12:120151478 (GRCh37)
Canonical SPDI:: NC_000012.12:119713672:G:A
Gene:: CIT (Varview), MIR1178 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.119713673G>A, NC_000012.11:g.120151478G>A, NG_029792.2:g.168647C>T, NG_029792.1:g.168618C>T, NR_031589.1:n.52C>T

Select item 91211987412.

rs912119874 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:119713641 (GRCh38)
12:120151446 (GRCh37)
Canonical SPDI:: NC_000012.12:119713640:C:T
Gene:: CIT (Varview), MIR1178 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000043/6 (GnomAD)
T=0.000053/14 (TOPMED)
HGVS:: NC_000012.12:g.119713641C>T, NC_000012.11:g.120151446C>T, NG_029792.2:g.168679G>A, NG_029792.1:g.168650G>A, NM_007174.3:c.4188G>A, NM_007174.2:c.4188G>A, NM_001206999.2:c.4314G>A, NM_001206999.1:c.4314G>A, XM_006719206.3:c.4269G>A, XM_006719206.2:c.4269G>A, XM_006719206.1:c.4269G>A, XM_011537791.3:c.2916G>A, XM_011537791.2:c.2916G>A, XM_011537791.1:c.2916G>A, XM_011537783.2:c.4314G>A, XM_011537783.1:c.4314G>A, XM_011537784.2:c.4314G>A, XM_011537784.1:c.4314G>A, XM_011537785.2:c.4269G>A, XM_011537785.1:c.4269G>A, XM_017018736.2:c.4269G>A, XM_017018736.1:c.4269G>A, XM_017018735.2:c.4314G>A, XM_017018735.1:c.4314G>A, XM_017018737.2:c.4269G>A, XM_017018737.1:c.4269G>A, XM_011537787.2:c.4143G>A, XM_011537787.1:c.4143G>A, XM_011537788.2:c.4143G>A, XM_011537788.1:c.4143G>A, XM_011537789.2:c.2976G>A, XM_011537789.1:c.2976G>A, XM_011537790.2:c.2976G>A, XM_011537790.1:c.2976G>A, XM_047428134.1:c.4188G>A, NR_031589.1:n.84G>A

Select item 78123406913.

rs781234069 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:119713708 (GRCh38)
12:120151513 (GRCh37)
Canonical SPDI:: NC_000012.12:119713707:C:T
Gene:: CIT (Varview), MIR1178 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.00001/1 (ExAC)
HGVS:: NC_000012.12:g.119713708C>T, NC_000012.11:g.120151513C>T, NG_029792.2:g.168612G>A, NG_029792.1:g.168583G>A, NR_031589.1:n.17G>A

Select item 76560244214.

rs765602442 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:119713682 (GRCh38)
12:120151487 (GRCh37)
Canonical SPDI:: NC_000012.12:119713681:C:A
Gene:: CIT (Varview), MIR1178 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000008/1 (ExAC)
HGVS:: NC_000012.12:g.119713682C>A, NC_000012.11:g.120151487C>A, NG_029792.2:g.168638G>T, NG_029792.1:g.168609G>T, NR_031589.1:n.43G>T

Select item 75946468615.

rs759464686 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:119713661 (GRCh38)
12:120151466 (GRCh37)
Canonical SPDI:: NC_000012.12:119713660:A:G
Gene:: CIT (Varview), MIR1178 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
HGVS:: NC_000012.12:g.119713661A>G, NC_000012.11:g.120151466A>G, NG_029792.2:g.168659T>C, NG_029792.1:g.168630T>C, NR_031589.1:n.64T>C

Select item 75493277616.

rs754932776 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:119713707 (GRCh38)
12:120151512 (GRCh37)
Canonical SPDI:: NC_000012.12:119713706:T:C
Gene:: CIT (Varview), MIR1178 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000019/2 (ExAC)
C=0.000106/2 (TOMMO)
C=0.001092/2 (Korea1K)
C=0.00137/4 (KOREAN)
HGVS:: NC_000012.12:g.119713707T>C, NC_000012.11:g.120151512T>C, NG_029792.2:g.168613A>G, NG_029792.1:g.168584A>G, NR_031589.1:n.18A>G

Select item 74811831517.

rs748118315 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:119713721 (GRCh38)
12:120151526 (GRCh37)
Canonical SPDI:: NC_000012.12:119713720:A:T
Gene:: CIT (Varview), MIR1178 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000048/1 (ALFA)
T=0.000012/3 (GnomAD_exomes)
T=0.000032/3 (ExAC)
HGVS:: NC_000012.12:g.119713721A>T, NC_000012.11:g.120151526A>T, NG_029792.2:g.168599T>A, NG_029792.1:g.168570T>A, NR_031589.1:n.4T>A

Select item 74710419018.

rs747104190 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:119713701 (GRCh38)
12:120151506 (GRCh37)
Canonical SPDI:: NC_000012.12:119713700:T:C
Gene:: CIT (Varview), MIR1178 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000009/1 (ExAC)
HGVS:: NC_000012.12:g.119713701T>C, NC_000012.11:g.120151506T>C, NG_029792.2:g.168619A>G, NG_029792.1:g.168590A>G, NR_031589.1:n.24A>G

Select item 37651163819.

rs376511638 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:119713680 (GRCh38)
12:120151485 (GRCh37)
Canonical SPDI:: NC_000012.12:119713679:T:C
Gene:: CIT (Varview), MIR1178 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000008/1 (ExAC)
C=0.000077/1 (GoESP)
HGVS:: NC_000012.12:g.119713680T>C, NC_000012.11:g.120151485T>C, NG_029792.2:g.168640A>G, NG_029792.1:g.168611A>G, NR_031589.1:n.45A>G

Select item 14122597620.

rs141225976 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:119713722 (GRCh38)
12:120151527 (GRCh37)
Canonical SPDI:: NC_000012.12:119713721:C:T
Gene:: CIT (Varview), MIR1178 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000203/9 (ALFA)
T=0./0 (TWINSUK)
T=0.000035/1 (TOMMO)
T=0.000156/1 (1000Genomes)
T=0.000179/43 (GnomAD_exomes)
T=0.000194/2 (GoESP)
T=0.000227/60 (TOPMED)
T=0.000259/1 (ALSPAC)
T=0.000264/37 (GnomAD)
T=0.000302/28 (ExAC)
HGVS:: NC_000012.12:g.119713722C>T, NC_000012.11:g.120151527C>T, NG_029792.2:g.168598G>A, NG_029792.1:g.168569G>A, NR_031589.1:n.3G>A

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