SNP Links for Gene (Select 255330) - SNP

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Items: 1 to 20 of 2880

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Select item 14908253681.

rs1490825368 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:126664665 (GRCh38)
3:126383508 (GRCh37)
Canonical SPDI:: NC_000003.12:126664664:T:C
Gene:: NUP210P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.126664665T>C, NC_000003.11:g.126383508T>C

Select item 14900414042.

rs1490041404 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:126662356 (GRCh38)
3:126381199 (GRCh37)
Canonical SPDI:: NC_000003.12:126662355:C:A
Gene:: NUP210P1 (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_000003.12:g.126662356C>A, NC_000003.11:g.126381199C>A

Select item 14898786283.

rs1489878628 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:126662799 (GRCh38)
3:126381642 (GRCh37)
Canonical SPDI:: NC_000003.12:126662798:C:T
Gene:: NUP210P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.126662799C>T, NC_000003.11:g.126381642C>T

Select item 14898216834.

rs1489821683 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:126671252 (GRCh38)
3:126390095 (GRCh37)
Canonical SPDI:: NC_000003.12:126671251:C:T
Gene:: NUP210P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.126671252C>T, NC_000003.11:g.126390095C>T

Select item 14896814485.

rs1489681448 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:126671068 (GRCh38)
3:126389911 (GRCh37)
Canonical SPDI:: NC_000003.12:126671067:C:T
Gene:: NUP210P1 (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_000003.12:g.126671068C>T, NC_000003.11:g.126389911C>T

Select item 14896662606.

rs1489666260 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:126670392 (GRCh38)
3:126389235 (GRCh37)
Canonical SPDI:: NC_000003.12:126670391:A:C
Gene:: NUP210P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.126670392A>C, NC_000003.11:g.126389235A>C

Select item 14895712647.

rs1489571264 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:126666104 (GRCh38)
3:126384947 (GRCh37)
Canonical SPDI:: NC_000003.12:126666103:T:C
Gene:: NUP210P1 (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_000003.12:g.126666104T>C, NC_000003.11:g.126384947T>C

Select item 14895416848.

rs1489541684 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:126665027 (GRCh38)
3:126383870 (GRCh37)
Canonical SPDI:: NC_000003.12:126665026:C:T
Gene:: NUP210P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.00006/16 (TOPMED)
T=0.000078/11 (GnomAD)
T=0.000142/2 (TOMMO)
HGVS:: NC_000003.12:g.126665027C>T, NC_000003.11:g.126383870C>T

Select item 14890200049.

rs1489020004 has merged into rs1216449162 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTTTGTTT>-,GTTT,GTTTGTTTGTTT [Show Flanks]
Chromosome:: 3:126665112 (GRCh38)
3:126383955 (GRCh37)
Canonical SPDI:: NC_000003.12:126665106:TGTTTGTTTGTTT:TGTTT,NC_000003.12:126665106:TGTTTGTTTGTTT:TGTTTGTTT,NC_000003.12:126665106:TGTTTGTTTGTTT:TGTTTGTTTGTTTGTTT
Gene:: NUP210P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTTTGTTT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.126665108GTTT[1], NC_000003.12:g.126665108GTTT[2], NC_000003.12:g.126665108GTTT[4], NC_000003.11:g.126383951GTTT[1], NC_000003.11:g.126383951GTTT[2], NC_000003.11:g.126383951GTTT[4]

Select item 148860460610.

rs1488604606 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:126663270 (GRCh38)
3:126382113 (GRCh37)
Canonical SPDI:: NC_000003.12:126663269:G:A
Gene:: NUP210P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.126663270G>A, NC_000003.11:g.126382113G>A

Select item 148847092411.

rs1488470924 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:126667120 (GRCh38)
3:126385963 (GRCh37)
Canonical SPDI:: NC_000003.12:126667119:G:C
Gene:: NUP210P1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.126667120G>C, NC_000003.11:g.126385963G>C, NM_174935.2:c.171G>C, NR_034158.1:n.415G>C, NM_174935.1:c.171G>C

Select item 148846253512.

rs1488462535 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:126672261 (GRCh38)
3:126391104 (GRCh37)
Canonical SPDI:: NC_000003.12:126672260:C:A,NC_000003.12:126672260:C:T
Gene:: NUP210P1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by cluster
MAF:: A=0.00011/2 (TOMMO)
HGVS:: NC_000003.12:g.126672261C>A, NC_000003.12:g.126672261C>T, NC_000003.11:g.126391104C>A, NC_000003.11:g.126391104C>T, NG_022218.2:g.1155G>T, NG_022218.2:g.1155G>A

Select item 148845798913.

rs1488457989 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:126660249 (GRCh38)
3:126379092 (GRCh37)
Canonical SPDI:: NC_000003.12:126660248:G:T
Gene:: NUP210P1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.126660249G>T, NC_000003.11:g.126379092G>T, NG_077299.1:g.364G>T

Select item 148844657514.

rs1488446575 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:126664202 (GRCh38)
3:126383045 (GRCh37)
Canonical SPDI:: NC_000003.12:126664201:G:T
Gene:: NUP210P1 (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_000003.12:g.126664202G>T, NC_000003.11:g.126383045G>T

Select item 148825815115.

rs1488258151 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:126666420 (GRCh38)
3:126385263 (GRCh37)
Canonical SPDI:: NC_000003.12:126666419:G:A
Gene:: NUP210P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.126666420G>A, NC_000003.11:g.126385263G>A

Select item 148803873316.

rs1488038733 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:126664647 (GRCh38)
3:126383490 (GRCh37)
Canonical SPDI:: NC_000003.12:126664646:A:G
Gene:: NUP210P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.126664647A>G, NC_000003.11:g.126383490A>G

Select item 148772028517.

rs1487720285 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 3:126672187 (GRCh38)
3:126391030 (GRCh37)
Canonical SPDI:: NC_000003.12:126672186:GGGGGG:GGGGG
Gene:: NUP210P1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
-=0.000023/3 (GnomAD)
-=0.00003/8 (TOPMED)
HGVS:: NC_000003.12:g.126672192del, NC_000003.11:g.126391035del, NG_022218.2:g.1229del

Select item 148746939518.

rs1487469395 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:126668216 (GRCh38)
3:126387059 (GRCh37)
Canonical SPDI:: NC_000003.12:126668215:G:A
Gene:: NUP210P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.126668216G>A, NC_000003.11:g.126387059G>A

Select item 148740895019.

rs1487408950 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:126668696 (GRCh38)
3:126387539 (GRCh37)
Canonical SPDI:: NC_000003.12:126668695:T:C
Gene:: NUP210P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.126668696T>C, NC_000003.11:g.126387539T>C

Select item 148727927220.

rs1487279272 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:126665612 (GRCh38)
3:126384455 (GRCh37)
Canonical SPDI:: NC_000003.12:126665611:G:A
Gene:: NUP210P1 (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)
HGVS:: NC_000003.12:g.126665612G>A, NC_000003.11:g.126384455G>A

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