SNP Links for Gene (Select 1203) - SNP

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Select item 14909509841.

rs1490950984 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:76998661 (GRCh38)
13:77572796 (GRCh37)
Canonical SPDI:: NC_000013.11:76998660:G:A
Gene:: CLN5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.76998661G>A, NC_000013.10:g.77572796G>A, NG_009064.1:g.11738G>A

Select item 14908994142.

rs1490899414 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 13:76996274 (GRCh38)
13:77570409 (GRCh37)
Canonical SPDI:: NC_000013.11:76996273:T:A
Gene:: CLN5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.76996274T>A, NC_000013.10:g.77570409T>A, NG_009064.1:g.9351T>A

Select item 14908006383.

rs1490800638 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:76996413 (GRCh38)
13:77570548 (GRCh37)
Canonical SPDI:: NC_000013.11:76996412:C:T
Gene:: CLN5 (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_000013.11:g.76996413C>T, NC_000013.10:g.77570548C>T, NG_009064.1:g.9490C>T

Select item 14906405064.

rs1490640506 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 13:76996835 (GRCh38)
13:77570970 (GRCh37)
Canonical SPDI:: NC_000013.11:76996834:T:A
Gene:: CLN5 (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_000013.11:g.76996835T>A, NC_000013.10:g.77570970T>A, NG_009064.1:g.9912T>A

Select item 14903855435.

rs1490385543 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:76995850 (GRCh38)
13:77569985 (GRCh37)
Canonical SPDI:: NC_000013.11:76995849:G:C
Gene:: CLN5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.76995850G>C, NC_000013.10:g.77569985G>C, NG_009064.1:g.8927G>C

Select item 14901170376.

rs1490117037 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:76999892 (GRCh38)
13:77574027 (GRCh37)
Canonical SPDI:: NC_000013.11:76999891:T:C
Gene:: CLN5 (Varview)
Functional Consequence:: intron_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_000013.11:g.76999892T>C, NC_000013.10:g.77574027T>C, NG_009064.1:g.12969T>C

Select item 14900800197.

rs1490080019 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 13:76993606 (GRCh38)
13:77567741 (GRCh37)
Canonical SPDI:: NC_000013.11:76993605:A:T
Gene:: CLN5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.76993606A>T, NC_000013.10:g.77567741A>T, NG_009064.1:g.6683A>T

Select item 14889966028.

rs1488996602 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:76999053 (GRCh38)
13:77573188 (GRCh37)
Canonical SPDI:: NC_000013.11:76999052:T:C
Gene:: CLN5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.76999053T>C, NC_000013.10:g.77573188T>C, NG_009064.1:g.12130T>C

Select item 14886014949.

rs1488601494 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:76994574 (GRCh38)
13:77568709 (GRCh37)
Canonical SPDI:: NC_000013.11:76994573:C:T
Gene:: CLN5 (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_000013.11:g.76994574C>T, NC_000013.10:g.77568709C>T, NG_009064.1:g.7651C>T

Select item 148847464410.

rs1488474644 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:77002706 (GRCh38)
13:77576841 (GRCh37)
Canonical SPDI:: NC_000013.11:77002705:A:C
Gene:: CLN5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
HGVS:: NC_000013.11:g.77002706A>C, NC_000013.10:g.77576841A>C, NG_009064.1:g.15783A>C, NM_006493.4:c.*1737A>C, NM_001366624.2:c.*2263A>C

Select item 148845343311.

rs1488453433 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:76991363 (GRCh38)
13:77565498 (GRCh37)
Canonical SPDI:: NC_000013.11:76991362:A:G
Gene:: CLN5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000214/3 (ALFA)
G=0.000026/7 (TOPMED)
HGVS:: NC_000013.11:g.76991363A>G, NC_000013.10:g.77565498A>G, NG_009064.1:g.4440A>G

Select item 148803191812.

rs1488031918 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:76996399 (GRCh38)
13:77570534 (GRCh37)
Canonical SPDI:: NC_000013.11:76996398:A:G
Gene:: CLN5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000013.11:g.76996399A>G, NC_000013.10:g.77570534A>G, NG_009064.1:g.9476A>G

Select item 148766181713.

rs1487661817 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:76998275 (GRCh38)
13:77572410 (GRCh37)
Canonical SPDI:: NC_000013.11:76998274:C:G
Gene:: CLN5 (Varview)
Functional Consequence:: intron_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_000013.11:g.76998275C>G, NC_000013.10:g.77572410C>G, NG_009064.1:g.11352C>G

Select item 148748727814.

rs1487487278 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 13:77001364 (GRCh38)
13:77575499 (GRCh37)
Canonical SPDI:: NC_000013.11:77001363:T:C,NC_000013.11:77001363:T:G
Gene:: CLN5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.00055/1 (Korea1K)
HGVS:: NC_000013.11:g.77001364T>C, NC_000013.11:g.77001364T>G, NC_000013.10:g.77575499T>C, NC_000013.10:g.77575499T>G, NG_009064.1:g.14441T>C, NG_009064.1:g.14441T>G, NM_006493.4:c.*395T>C, NM_006493.4:c.*395T>G, NM_006493.3:c.*395T>C, NM_006493.3:c.*395T>G, NM_006493.2:c.*395T>C, NM_006493.2:c.*395T>G, NM_001366624.2:c.*921T>C, NM_001366624.2:c.*921T>G, NM_001366624.1:c.*921T>C, NM_001366624.1:c.*921T>G

Select item 148704491915.

rs1487044919 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:77000096 (GRCh38)
13:77574231 (GRCh37)
Canonical SPDI:: NC_000013.11:77000095:A:C
Gene:: CLN5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.77000096A>C, NC_000013.10:g.77574231A>C, NG_009064.1:g.13173A>C

Select item 148681405916.

rs1486814059 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:76992377 (GRCh38)
13:77566512 (GRCh37)
Canonical SPDI:: NC_000013.11:76992376:C:T
Gene:: CLN5 (Varview)
Functional Consequence:: intron_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_000013.11:g.76992377C>T, NC_000013.10:g.77566512C>T, NG_009064.1:g.5454C>T

Select item 148593414017.

rs1485934140 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:76999359 (GRCh38)
13:77573494 (GRCh37)
Canonical SPDI:: NC_000013.11:76999358:G:A
Gene:: CLN5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.76999359G>A, NC_000013.10:g.77573494G>A, NG_009064.1:g.12436G>A

Select item 148588288618.

rs1485882886 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:77000459 (GRCh38)
13:77574594 (GRCh37)
Canonical SPDI:: NC_000013.11:77000458:A:G
Gene:: CLN5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.77000459A>G, NC_000013.10:g.77574594A>G, NG_009064.1:g.13536A>G, NM_006493.4:c.567A>G, NM_006493.3:c.567A>G, NM_006493.2:c.714A>G, NM_001366624.2:c.*16A>G, NM_001366624.1:c.*16A>G

Select item 148575110719.

rs1485751107 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:76992278 (GRCh38)
13:77566413 (GRCh37)
Canonical SPDI:: NC_000013.11:76992277:G:T
Gene:: CLN5 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.76992278G>T, NC_000013.10:g.77566413G>T, NG_009064.1:g.5355G>T

Select item 148551759620.

rs1485517596 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:77002344 (GRCh38)
13:77576479 (GRCh37)
Canonical SPDI:: NC_000013.11:77002343:G:A
Gene:: CLN5 (Varview)
Functional Consequence:: 3_prime_UTR_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_000013.11:g.77002344G>A, NC_000013.10:g.77576479G>A, NG_009064.1:g.15421G>A, NM_006493.4:c.*1375G>A, NM_006493.3:c.*1375G>A, NM_006493.2:c.*1375G>A, NM_001366624.2:c.*1901G>A, NM_001366624.1:c.*1901G>A

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