SNP Links for Gene (Select 1510) - SNP

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Select item 14904621331.

rs1490462133 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:206020014 (GRCh38)
1:206321354 (GRCh37)
Canonical SPDI:: NC_000001.11:206020013:C:T
Gene:: CTSE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/2 (GnomAD)
HGVS:: NC_000001.11:g.206020014C>T, NW_003871057.1:g.10868C>T, NG_029664.1:g.8896G>A, NC_000001.10:g.206321354G>A

Select item 14904365672.

rs1490436567 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 1:206020976 (GRCh38)
1:206320392 (GRCh37)
Canonical SPDI:: NC_000001.11:206020975:T:A,NC_000001.11:206020975:T:G
Gene:: CTSE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.206020976T>A, NC_000001.11:g.206020976T>G, NW_003871057.1:g.11830T>A, NW_003871057.1:g.11830T>G, NG_029664.1:g.7934A>T, NG_029664.1:g.7934A>C, NC_000001.10:g.206320392A>T, NC_000001.10:g.206320392A>C

Select item 14902984373.

rs1490298437 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:206019709 (GRCh38)
1:206321659 (GRCh37)
Canonical SPDI:: NC_000001.11:206019708:T:C
Gene:: CTSE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000199/27 (GnomAD)
C=0.000264/70 (TOPMED)
G=0.000298/5 (TOMMO)
G=0.000478/1 (KOREAN)
C=0.000556/1 (Korea1K)
HGVS:: NC_000001.11:g.206019709T>C, NW_003871057.1:g.10563T>C, NG_029664.1:g.9201A>G, NC_000001.10:g.206321659A>G

Select item 14902637014.

rs1490263701 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:206020479 (GRCh38)
1:206320889 (GRCh37)
Canonical SPDI:: NC_000001.11:206020478:C:G,NC_000001.11:206020478:C:T
Gene:: CTSE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.206020479C>G, NC_000001.11:g.206020479C>T, NW_003871057.1:g.11333C>G, NW_003871057.1:g.11333C>T, NG_029664.1:g.8431G>C, NG_029664.1:g.8431G>A, NC_000001.10:g.206320889G>C, NC_000001.10:g.206320889G>A

Select item 14900405085.

rs1490040508 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:206012329 (GRCh38)
1:206329039 (GRCh37)
Canonical SPDI:: NC_000001.11:206012328:G:A
Gene:: CTSE (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.206012329G>A, NW_003871057.1:g.3183G>A, NG_029664.1:g.16581C>T, NM_001910.4:c.1005C>T, NM_001910.3:c.1005C>T, NM_148964.3:c.863C>T, NM_148964.2:c.863C>T, NM_001317331.2:c.638C>T, NM_001317331.1:c.638C>T, NC_000001.10:g.206329039C>T, XM_011509244.2:c.1020C>T, XM_011509244.1:c.1020C>T, XM_011509245.2:c.878C>T, XM_011509245.1:c.878C>T, NP_683865.1:p.Ala288Val, NP_001304260.1:p.Ala213Val, XP_011507547.1:p.Ala293Val

Select item 14899292156.

rs1489929215 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:206010810 (GRCh38)
1:206330558 (GRCh37)
Canonical SPDI:: NC_000001.11:206010809:T:C
Gene:: CTSE (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.206010810T>C, NC_000001.10:g.206330558A>G, NG_029664.1:g.18100A>G, NW_003871057.1:g.1664T>C

Select item 14895919037.

rs1489591903 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:206025542 (GRCh38)
1:206315826 (GRCh37)
Canonical SPDI:: NC_000001.11:206025541:T:C
Gene:: CTSE (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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.206025542T>C, NW_003871057.1:g.16396T>C, NG_029664.1:g.3368A>G, NC_000001.10:g.206315826A>G

Select item 14894236778.

rs1489423677 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:206013706 (GRCh38)
1:206327662 (GRCh37)
Canonical SPDI:: NC_000001.11:206013705:C:T
Gene:: CTSE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.206013706C>T, NW_003871057.1:g.4560C>T, NG_029664.1:g.15204G>A, NC_000001.10:g.206327662G>A

Select item 14893357439.

rs1489335743 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:206023122 (GRCh38)
1:206318246 (GRCh37)
Canonical SPDI:: NC_000001.11:206023121:C:G,NC_000001.11:206023121:C:T
Gene:: CTSE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.206023122C>G, NC_000001.11:g.206023122C>T, NW_003871057.1:g.13976C>G, NW_003871057.1:g.13976C>T, NG_029664.1:g.5788G>C, NG_029664.1:g.5788G>A, NC_000001.10:g.206318246G>C, NC_000001.10:g.206318246G>A

Select item 148898155910.

rs1488981559 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:206014095 (GRCh38)
1:206327273 (GRCh37)
Canonical SPDI:: NC_000001.11:206014094:C:G
Gene:: CTSE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.206014095C>G, NW_003871057.1:g.4949C>G, NG_029664.1:g.14815G>C, NC_000001.10:g.206327273G>C

Select item 148875774211.

rs1488757742 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:206019149 (GRCh38)
1:206322219 (GRCh37)
Canonical SPDI:: NC_000001.11:206019148:A:G
Gene:: CTSE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.206019149A>G, NW_003871057.1:g.10003A>G, NG_029664.1:g.9761T>C, NC_000001.10:g.206322219T>C

Select item 148858702212.

rs1488587022 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 1:206014858 (GRCh38)
1:206326510 (GRCh37)
Canonical SPDI:: NC_000001.11:206014857:G:C,NC_000001.11:206014857:G:T
Gene:: CTSE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.206014858G>C, NC_000001.11:g.206014858G>T, NW_003871057.1:g.5712G>C, NW_003871057.1:g.5712G>T, NG_029664.1:g.14052C>G, NG_029664.1:g.14052C>A, NC_000001.10:g.206326510C>G, NC_000001.10:g.206326510C>A

Select item 148853342413.

rs1488533424 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:206021836 (GRCh38)
1:206319532 (GRCh37)
Canonical SPDI:: NC_000001.11:206021835:A:G
Gene:: CTSE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.206021836A>G, NW_003871057.1:g.12690A>G, NG_029664.1:g.7074T>C, NC_000001.10:g.206319532T>C

Select item 148775493514.

rs1487754935 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:206021720 (GRCh38)
1:206319648 (GRCh37)
Canonical SPDI:: NC_000001.11:206021719:A:G
Gene:: CTSE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.206021720A>G, NW_003871057.1:g.12574A>G, NG_029664.1:g.7190T>C, NC_000001.10:g.206319648T>C

Select item 148774720815.

rs1487747208 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:206008779 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:206008778:T:C
Gene:: CTSE (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.206008779T>C

Select item 148770225616.

rs1487702256 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:206022691 (GRCh38)
1:206318677 (GRCh37)
Canonical SPDI:: NC_000001.11:206022690:C:A
Gene:: CTSE (Varview)
Functional Consequence:: intron_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_000001.11:g.206022691C>A, NW_003871057.1:g.13545C>A, NG_029664.1:g.6219G>T, NC_000001.10:g.206318677G>T

Select item 148767483517.

rs1487674835 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:206009776 (GRCh38)
1:206331592 (GRCh37)
Canonical SPDI:: NC_000001.11:206009775:G:T
Gene:: CTSE (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=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.206009776G>T, NC_000001.10:g.206331592C>A, NG_029664.1:g.19134C>A, NM_001910.4:c.*407C>A, NM_001910.3:c.*407C>A, NM_148964.3:c.*364C>A, NM_148964.2:c.*364C>A, NM_001317331.2:c.*364C>A, NM_001317331.1:c.*364C>A, NW_003871057.1:g.630G>T, XM_011509244.2:c.*407C>A, XM_011509244.1:c.*407C>A, XM_011509245.2:c.*364C>A, XM_011509245.1:c.*364C>A

Select item 148757747318.

rs1487577473 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:206025655 (GRCh38)
1:206315713 (GRCh37)
Canonical SPDI:: NC_000001.11:206025654:G:A,NC_000001.11:206025654:G:T
Gene:: CTSE (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.206025655G>A, NC_000001.11:g.206025655G>T, NW_003871057.1:g.16509G>A, NW_003871057.1:g.16509G>T, NG_029664.1:g.3255C>T, NG_029664.1:g.3255C>A, NC_000001.10:g.206315713C>T, NC_000001.10:g.206315713C>A

Select item 148746866119.

rs1487468661 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:206012779 (GRCh38)
1:206328589 (GRCh37)
Canonical SPDI:: NC_000001.11:206012778:T:C
Gene:: CTSE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.206012779T>C, NW_003871057.1:g.3633T>C, NG_029664.1:g.16131A>G, NC_000001.10:g.206328589A>G

Select item 148720742720.

rs1487207427 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:206017499 (GRCh38)
1:206323869 (GRCh37)
Canonical SPDI:: NC_000001.11:206017498:A:G,NC_000001.11:206017498:A:T
Gene:: CTSE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.206017499A>G, NC_000001.11:g.206017499A>T, NW_003871057.1:g.8353A>G, NW_003871057.1:g.8353A>T, NG_029664.1:g.11411T>C, NG_029664.1:g.11411T>A, NC_000001.10:g.206323869T>C, NC_000001.10:g.206323869T>A

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