SNP Links for Gene (Select 85316) - SNP

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Select item 14904157001.

rs1490415700 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 13:18171472 (GRCh38)
13:-1 (GRCh37)
Canonical SPDI:: NC_000013.11:18171471:AG:
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.18171472_18171473del, NW_011332699.1:g.170132_170133del, NT_113923.1:g.224_225del, NM_182484.2:c.*1509_*1510del, NM_182484.1:c.*1509_*1510del, NM_182481.1:c.*1342_*1343del

Select item 14882883912.

rs1488288391 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:18171806 (GRCh38)
13:-1 (GRCh37)
Canonical SPDI:: NC_000013.11:18171805:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000043/6 (GnomAD)
A=0.000468/3 (1000Genomes)
HGVS:: NC_000013.11:g.18171806G>A, NW_011332699.1:g.170466G>A, NT_113923.1:g.558G>A

Select item 14882037073.

rs1488203707 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:18171547 (GRCh38)
13:-1 (GRCh37)
Canonical SPDI:: NC_000013.11:18171546:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00018/5 (TOMMO)
C=0.00031/2 (1000Genomes)
HGVS:: NC_000013.11:g.18171547T>C, NW_011332699.1:g.170207T>C, NT_113923.1:g.299T>C

Select item 14861655834.

rs1486165583 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:18171874 (GRCh38)
13:-1 (GRCh37)
Canonical SPDI:: NC_000013.11:18171873:C:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.18171874C>T, NW_011332699.1:g.170534C>T, NT_113923.1:g.626C>T

Select item 14809833205.

rs1480983320 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 13:18171723 (GRCh38)
13:-1 (GRCh37)
Canonical SPDI:: NC_000013.11:18171722:G:A,NC_000013.11:18171722:G:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000022/3 (GnomAD)
HGVS:: NC_000013.11:g.18171723G>A, NC_000013.11:g.18171723G>C, NW_011332699.1:g.170383G>A, NW_011332699.1:g.170383G>C, NT_113923.1:g.475G>A, NT_113923.1:g.475G>C

Select item 14804554656.

rs1480455465 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:18171521 (GRCh38)
13:-1 (GRCh37)
Canonical SPDI:: NC_000013.11:18171520:C:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00016/1 (1000Genomes)
HGVS:: NC_000013.11:g.18171521C>T, NW_011332699.1:g.170181C>T, NT_113923.1:g.273C>T

Select item 14772961277.

rs1477296127 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 13:18171608 (GRCh38)
13:-1 (GRCh37)
Canonical SPDI:: NC_000013.11:18171607:G:A,NC_000013.11:18171607:G:C,NC_000013.11:18171607:G:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000013.11:g.18171608G>A, NC_000013.11:g.18171608G>C, NC_000013.11:g.18171608G>T, NW_011332699.1:g.170268G>A, NW_011332699.1:g.170268G>C, NW_011332699.1:g.170268G>T, NT_113923.1:g.360G>A, NT_113923.1:g.360G>C, NT_113923.1:g.360G>T

Select item 14769707168.

rs1476970716 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 13:18171902 (GRCh38)
13:-1 (GRCh37)
Canonical SPDI:: NC_000013.11:18171901:G:A,NC_000013.11:18171901:G:C,NC_000013.11:18171901:G:T
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.18171902G>A, NC_000013.11:g.18171902G>C, NC_000013.11:g.18171902G>T, NW_011332699.1:g.170562G>A, NW_011332699.1:g.170562G>C, NW_011332699.1:g.170562G>T, NT_113923.1:g.654G>A, NT_113923.1:g.654G>C, NT_113923.1:g.654G>T

Select item 14723738429.

rs1472373842 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 13:18171379 (GRCh38)
13:-1 (GRCh37)
Canonical SPDI:: NC_000013.11:18171379:AAAA:AAAAA
Validated:: by frequency,by alfa
MAF:: AAAAA=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.18171383dup, NW_011332699.1:g.170043dup, NT_113923.1:g.135dup

Select item 147199451510.

rs1471994515 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:18171623 (GRCh38)
13:-1 (GRCh37)
Canonical SPDI:: NC_000013.11:18171622:G:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.18171623G>T, NW_011332699.1:g.170283G>T, NT_113923.1:g.375G>T

Select item 147091037711.

rs1470910377 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:18171469 (GRCh38)
13:-1 (GRCh37)
Canonical SPDI:: NC_000013.11:18171468:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000013.11:g.18171469C>T, NW_011332699.1:g.170129C>T, NT_113923.1:g.221C>T, NM_182484.2:c.*1506C>T, NM_182484.1:c.*1506C>T, NM_182481.1:c.*1339C>T

Select item 146940402412.

rs1469404024 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 13:18171897 (GRCh38)
13:-1 (GRCh37)
Canonical SPDI:: NC_000013.11:18171896:C:G,NC_000013.11:18171896:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.00094/6 (1000Genomes)
HGVS:: NC_000013.11:g.18171897C>G, NC_000013.11:g.18171897C>T, NW_011332699.1:g.170557C>G, NW_011332699.1:g.170557C>T, NT_113923.1:g.649C>G, NT_113923.1:g.649C>T

Select item 146460842613.

rs1464608426 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 13:18171668 (GRCh38)
13:-1 (GRCh37)
Canonical SPDI:: NC_000013.11:18171667:A:C,NC_000013.11:18171667:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.18171668A>C, NC_000013.11:g.18171668A>G, NW_011332699.1:g.170328A>C, NW_011332699.1:g.170328A>G, NT_113923.1:g.420A>C, NT_113923.1:g.420A>G

Select item 146430257214.

rs1464302572 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:18171975 (GRCh38)
13:-1 (GRCh37)
Canonical SPDI:: NC_000013.11:18171974:A:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000013.11:g.18171975A>G, NW_011332699.1:g.170635A>G, NT_113923.1:g.727A>G

Select item 146276357015.

rs1462763570 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:18171633 (GRCh38)
13:-1 (GRCh37)
Canonical SPDI:: NC_000013.11:18171632:T:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000013.11:g.18171633T>G, NW_011332699.1:g.170293T>G, NT_113923.1:g.385T>G

Select item 145611407116.

rs1456114071 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:18171279 (GRCh38)
13:-1 (GRCh37)
Canonical SPDI:: NC_000013.11:18171278:T:C
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000013.11:g.18171279T>C, NW_011332699.1:g.169939T>C, NT_113923.1:g.31T>C

Select item 145606712917.

rs1456067129 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 13:18171770 (GRCh38)
13:-1 (GRCh37)
Canonical SPDI:: NC_000013.11:18171769:C:G,NC_000013.11:18171769:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000022/3 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000013.11:g.18171770C>G, NC_000013.11:g.18171770C>T, NW_011332699.1:g.170430C>G, NW_011332699.1:g.170430C>T, NT_113923.1:g.522C>G, NT_113923.1:g.522C>T

Select item 145476973718.

rs1454769737 has merged into rs1298193868 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 13:18171855 (GRCh38)
13:-1 (GRCh37)
Canonical SPDI:: NC_000013.11:18171854:AAAAAA:AAAAA,NC_000013.11:18171854:AAAAAA:AAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
HGVS:: NC_000013.11:g.18171860del, NC_000013.11:g.18171860dup, NW_011332699.1:g.170520del, NW_011332699.1:g.170520dup, NT_113923.1:g.612del, NT_113923.1:g.612dup

Select item 145328503619.

rs1453285036 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:18171665 (GRCh38)
13:-1 (GRCh37)
Canonical SPDI:: NC_000013.11:18171664:C:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.001433/17 (ALFA)
A=0.000166/23 (GnomAD)
A=0.000616/163 (TOPMED)
A=0.012492/80 (1000Genomes)
HGVS:: NC_000013.11:g.18171665C>A, NW_011332699.1:g.170325C>A, NT_113923.1:g.417C>A

Select item 145236971220.

rs1452369712 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 13:18171951 (GRCh38)
13:-1 (GRCh37)
Canonical SPDI:: NC_000013.11:18171950:C:G,NC_000013.11:18171950:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.00156/10 (1000Genomes)
HGVS:: NC_000013.11:g.18171951C>G, NC_000013.11:g.18171951C>T, NW_011332699.1:g.170611C>G, NW_011332699.1:g.170611C>T, NT_113923.1:g.703C>G, NT_113923.1:g.703C>T

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