SNP Links for Gene (Select 100169851) - SNP

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Select item 14915576921.

rs1491557692 has merged into rs34957692 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 11:125792067 (GRCh38)
11:125661962 (GRCh37)
Canonical SPDI:: NC_000011.10:125792057:TTTTTTTTTTT:TTTTTTTTT,NC_000011.10:125792057:TTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:125792057:TTTTTTTTTTT:TTTTTTTTTTTT
Gene:: PATE3 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.0049/9 (Korea1K)
T=0.0254/127 (1000Genomes)
T=0.0433/26 (NorthernSweden)
T=0.0456/169 (TWINSUK)
T=0.0457/176 (ALSPAC)
T=0.05/2 (GENOME_DK)
HGVS:: NC_000011.10:g.125792067_125792068del, NC_000011.10:g.125792068del, NC_000011.10:g.125792068dup, NC_000011.9:g.125661962_125661963del, NC_000011.9:g.125661963del, NC_000011.9:g.125661963dup

Select item 14913167452.

rs1491316745 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AATTATATTCT [Show Flanks]
Chromosome:: 11:125792058 (GRCh38)
11:125661954 (GRCh37)
Canonical SPDI:: NC_000011.10:125792058:T:TAATTATATTCT
Gene:: PATE3 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAATTATATTCT=0.00008/1 (ALFA)
TAATTATATTC=0.02215/7 (GnomAD)
HGVS:: NC_000011.10:g.125792059_125792060insAATTATATTCT, NC_000011.9:g.125661954_125661955insAATTATATTCT

Select item 14908830423.

rs1490883042 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:125787277 (GRCh38)
11:125657172 (GRCh37)
Canonical SPDI:: NC_000011.10:125787276:C:G
Gene:: PATE3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.125787277C>G, NC_000011.9:g.125657172C>G

Select item 14908320004.

rs1490832000 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:125789586 (GRCh38)
11:125659481 (GRCh37)
Canonical SPDI:: NC_000011.10:125789585:A:G
Gene:: PATE3 (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_000011.10:g.125789586A>G, NC_000011.9:g.125659481A>G

Select item 14902204045.

rs1490220404 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:125788246 (GRCh38)
11:125658141 (GRCh37)
Canonical SPDI:: NC_000011.10:125788245:G:A,NC_000011.10:125788245:G:C
Gene:: PATE3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.125788246G>A, NC_000011.10:g.125788246G>C, NC_000011.9:g.125658141G>A, NC_000011.9:g.125658141G>C

Select item 14896664676.

rs1489666467 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:125788061 (GRCh38)
11:125657956 (GRCh37)
Canonical SPDI:: NC_000011.10:125788060:G:A
Gene:: PATE3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_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_000011.10:g.125788061G>A, NC_000011.9:g.125657956G>A

Select item 14896288947.

rs1489628894 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:125791269 (GRCh38)
11:125661164 (GRCh37)
Canonical SPDI:: NC_000011.10:125791268:C:G
Gene:: PATE3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
HGVS:: NC_000011.10:g.125791269C>G, NC_000011.9:g.125661164C>G, NM_001129883.4:c.*667C>G, NM_001129883.3:c.*667C>G

Select item 14895489398.

rs1489548939 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:125784218 (GRCh38)
11:125654113 (GRCh37)
Canonical SPDI:: NC_000011.10:125784217:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
A=0.5/2 (SGDP_PRJ)
HGVS:: NC_000011.10:g.125784218A>G, NC_000011.9:g.125654113A>G

Select item 14895153329.

rs1489515332 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:125784113 (GRCh38)
11:125654008 (GRCh37)
Canonical SPDI:: NC_000011.10:125784112:C:A
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.125784113C>A, NC_000011.9:g.125654008C>A

Select item 148911590510.

rs1489115905 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:125788519 (GRCh38)
11:125658414 (GRCh37)
Canonical SPDI:: NC_000011.10:125788518:C:A
Gene:: PATE3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.125788519C>A, NC_000011.9:g.125658414C>A

Select item 148906509811.

rs1489065098 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:125791384 (GRCh38)
11:125661279 (GRCh37)
Canonical SPDI:: NC_000011.10:125791383:G:T
Gene:: PATE3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.125791384G>T, NC_000011.9:g.125661279G>T, NM_001129883.4:c.*782G>T, NM_001129883.3:c.*782G>T

Select item 148896757912.

rs1488967579 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 11:125791560 (GRCh38)
11:125661455 (GRCh37)
Canonical SPDI:: NC_000011.10:125791559:C:A,NC_000011.10:125791559:C:G
Gene:: PATE3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.125791560C>A, NC_000011.10:g.125791560C>G, NC_000011.9:g.125661455C>A, NC_000011.9:g.125661455C>G, NM_001129883.4:c.*958C>A, NM_001129883.4:c.*958C>G, NM_001129883.3:c.*958C>A, NM_001129883.3:c.*958C>G

Select item 148836716313.

rs1488367163 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:125791567 (GRCh38)
11:125661462 (GRCh37)
Canonical SPDI:: NC_000011.10:125791566:G:C
Gene:: PATE3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.125791567G>C, NC_000011.9:g.125661462G>C, NM_001129883.4:c.*965G>C, NM_001129883.3:c.*965G>C

Select item 148813490114.

rs1488134901 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 11:125784593 (GRCh38)
11:125654488 (GRCh37)
Canonical SPDI:: NC_000011.10:125784592:GGG:GG
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000011.10:g.125784595del, NC_000011.9:g.125654490del

Select item 148747473215.

rs1487474732 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:125784124 (GRCh38)
11:125654019 (GRCh37)
Canonical SPDI:: NC_000011.10:125784123:T:C
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.125784124T>C, NC_000011.9:g.125654019T>C

Select item 148657400516.

rs1486574005 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:125790419 (GRCh38)
11:125660314 (GRCh37)
Canonical SPDI:: NC_000011.10:125790418:G:C
Gene:: PATE3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.125790419G>C, NC_000011.9:g.125660314G>C

Select item 148562831717.

rs1485628317 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:125785960 (GRCh38)
11:125655855 (GRCh37)
Canonical SPDI:: NC_000011.10:125785959:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.125785960G>A, NC_000011.9:g.125655855G>A

Select item 148540983018.

rs1485409830 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:125787067 (GRCh38)
11:125656962 (GRCh37)
Canonical SPDI:: NC_000011.10:125787066:G:A
Gene:: PATE3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_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_000011.10:g.125787067G>A, NC_000011.9:g.125656962G>A

Select item 148489491219.

rs1484894912 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:125790687 (GRCh38)
11:125660582 (GRCh37)
Canonical SPDI:: NC_000011.10:125790686:G:A,NC_000011.10:125790686:G:T
Gene:: PATE3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00013/2 (ALFA)
A=0.00045/2 (Estonian)
HGVS:: NC_000011.10:g.125790687G>A, NC_000011.10:g.125790687G>T, NC_000011.9:g.125660582G>A, NC_000011.9:g.125660582G>T, NM_001129883.4:c.*85G>A, NM_001129883.4:c.*85G>T, NM_001129883.3:c.*85G>A, NM_001129883.3:c.*85G>T

Select item 148464957020.

rs1484649570 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAA>- [Show Flanks]
Chromosome:: 11:125786559 (GRCh38)
11:125656454 (GRCh37)
Canonical SPDI:: NC_000011.10:125786552:GAAGAAGAA:GAAGAA
Gene:: PATE3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GAAGAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.125786553GAA[2], NC_000011.9:g.125656448GAA[2]

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