SNP Links for Gene (Select 392360) - SNP

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Select item 14912926141.

rs1491292614 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 9:87773489 (GRCh38)
9:90388404 (GRCh37)
Canonical SPDI:: NC_000009.12:87773488:TG:
Gene:: CTSL3P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
-=0.000025/3 (ExAC)
-=0.000028/7 (GnomAD_exomes)
HGVS:: NC_000009.12:g.87773489_87773490del, NC_000009.11:g.90388404_90388405del, NM_001023564.2:c.270_271del, NR_027917.1:n.270_271del, NM_001023564.1:c.270_271del

Select item 14912517712.

rs1491251771 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCTT [Show Flanks]
Chromosome:: 9:87774456 (GRCh38)
9:90389372 (GRCh37)
Canonical SPDI:: NC_000009.12:87774456:CTT:CTTCCTT
Gene:: CTSL3P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTTCCTT=0./0 (ALFA)
CTTC=0.00044/4 (TOMMO)
CTTC=0.00057/3 (GnomAD)
HGVS:: NC_000009.12:g.87774459_87774460insCCTT, NC_000009.11:g.90389374_90389375insCCTT

Select item 14908453803.

rs1490845380 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:87782789 (GRCh38)
9:90397704 (GRCh37)
Canonical SPDI:: NC_000009.12:87782788:A:G
Gene:: CTSL3P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.87782789A>G, NC_000009.11:g.90397704A>G

Select item 14908030734.

rs1490803073 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:87774890 (GRCh38)
9:90389805 (GRCh37)
Canonical SPDI:: NC_000009.12:87774889:A:T
Gene:: CTSL3P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.87774890A>T, NC_000009.11:g.90389805A>T

Select item 14905361025.

rs1490536102 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:87777849 (GRCh38)
9:90392764 (GRCh37)
Canonical SPDI:: NC_000009.12:87777848:G:A
Gene:: CTSL3P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.87777849G>A, NC_000009.11:g.90392764G>A

Select item 14902679716.

rs1490267971 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:87781131 (GRCh38)
9:90396046 (GRCh37)
Canonical SPDI:: NC_000009.12:87781130:A:G
Gene:: CTSL3P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000009.12:g.87781131A>G, NC_000009.11:g.90396046A>G

Select item 14900596517.

rs1490059651 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:87783418 (GRCh38)
9:90398333 (GRCh37)
Canonical SPDI:: NC_000009.12:87783417:A:C
Gene:: CTSL3P (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_000009.12:g.87783418A>C, NC_000009.11:g.90398333A>C

Select item 14896760158.

rs1489676015 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:87778903 (GRCh38)
9:90393818 (GRCh37)
Canonical SPDI:: NC_000009.12:87778902:A:G
Gene:: CTSL3P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000162/3 (ALFA)
G=0.000045/12 (TOPMED)
G=0.000093/13 (GnomAD)
G=0.000893/4 (Estonian)
G=0.001667/1 (NorthernSweden)
HGVS:: NC_000009.12:g.87778903A>G, NC_000009.11:g.90393818A>G

Select item 14896322939.

rs1489632293 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:87780604 (GRCh38)
9:90395519 (GRCh37)
Canonical SPDI:: NC_000009.12:87780603:G:A,NC_000009.12:87780603:G:T
Gene:: CTSL3P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
T=0.000318/5 (TOMMO)
HGVS:: NC_000009.12:g.87780604G>A, NC_000009.12:g.87780604G>T, NC_000009.11:g.90395519G>A, NC_000009.11:g.90395519G>T

Select item 148962608410.

rs1489626084 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:87776760 (GRCh38)
9:90391675 (GRCh37)
Canonical SPDI:: NC_000009.12:87776759:G:A
Gene:: CTSL3P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.87776760G>A, NC_000009.11:g.90391675G>A

Select item 148934682411.

rs1489346824 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:87773074 (GRCh38)
9:90387989 (GRCh37)
Canonical SPDI:: NC_000009.12:87773073:A:G
Gene:: CTSL3P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.87773074A>G, NC_000009.11:g.90387989A>G

Select item 148915747012.

rs1489157470 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:87786808 (GRCh38)
9:90401723 (GRCh37)
Canonical SPDI:: NC_000009.12:87786807:G:T
Gene:: CTSL3P (Varview)
Functional Consequence:: non_coding_transcript_variant
HGVS:: NC_000009.12:g.87786808G>T, NC_000009.11:g.90401723G>T, NM_001023564.2:c.581G>T, NR_027917.1:n.581G>T, NM_001023564.1:c.581G>T

Select item 148903414513.

rs1489034145 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:87784453 (GRCh38)
9:90399368 (GRCh37)
Canonical SPDI:: NC_000009.12:87784452:G:A,NC_000009.12:87784452:G:T
Gene:: CTSL3P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.87784453G>A, NC_000009.12:g.87784453G>T, NC_000009.11:g.90399368G>A, NC_000009.11:g.90399368G>T

Select item 148887390614.

rs1488873906 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:87773360 (GRCh38)
9:90388275 (GRCh37)
Canonical SPDI:: NC_000009.12:87773359:G:T
Gene:: CTSL3P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.87773360G>T, NC_000009.11:g.90388275G>T

Select item 148884421615.

rs1488844216 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:87774421 (GRCh38)
9:90389336 (GRCh37)
Canonical SPDI:: NC_000009.12:87774420:A:G
Gene:: CTSL3P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.87774421A>G, NC_000009.11:g.90389336A>G

Select item 148883376816.

rs1488833768 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:87771678 (GRCh38)
9:90386593 (GRCh37)
Canonical SPDI:: NC_000009.12:87771677:C:T
Gene:: CTSL3P (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000009.12:g.87771678C>T, NC_000009.11:g.90386593C>T

Select item 148853573617.

rs1488535736 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:87775705 (GRCh38)
9:90390620 (GRCh37)
Canonical SPDI:: NC_000009.12:87775704:G:A
Gene:: CTSL3P (Varview)
Functional Consequence:: intron_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.87775705G>A, NC_000009.11:g.90390620G>A

Select item 148840644118.

rs1488406441 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:87782521 (GRCh38)
9:90397436 (GRCh37)
Canonical SPDI:: NC_000009.12:87782520:C:T
Gene:: CTSL3P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.87782521C>T, NC_000009.11:g.90397436C>T

Select item 148834668219.

rs1488346682 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:87786261 (GRCh38)
9:90401176 (GRCh37)
Canonical SPDI:: NC_000009.12:87786260:A:T
Gene:: CTSL3P (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_000009.12:g.87786261A>T, NC_000009.11:g.90401176A>T

Select item 148821975920.

rs1488219759 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:87774298 (GRCh38)
9:90389213 (GRCh37)
Canonical SPDI:: NC_000009.12:87774297:T:A
Gene:: CTSL3P (Varview)
Functional Consequence:: intron_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.87774298T>A, NC_000009.11:g.90389213T>A

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