SNP Links for Gene (Select 100289361) - SNP

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Select item 14905036971.

rs1490503697 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 3:143002883 (GRCh38)
3:142721725 (GRCh37)
Canonical SPDI:: NC_000003.12:143002882:G:C,NC_000003.12:143002882:G:T
Gene:: U2SURP (Varview), LOC100289361 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.143002883G>C, NC_000003.12:g.143002883G>T, NC_000003.11:g.142721725G>C, NC_000003.11:g.142721725G>T

Select item 14894225472.

rs1489422547 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:143002995 (GRCh38)
3:142721837 (GRCh37)
Canonical SPDI:: NC_000003.12:143002994:C:G
Gene:: U2SURP (Varview), LOC100289361 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000003.12:g.143002995C>G, NC_000003.11:g.142721837C>G

Select item 14875650223.

rs1487565022 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:143001626 (GRCh38)
3:142720468 (GRCh37)
Canonical SPDI:: NC_000003.12:143001625:A:C
Gene:: U2SURP (Varview), LOC100289361 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.143001626A>C, NC_000003.11:g.142720468A>C, NM_001320222.2:c.-1367A>C, NM_001320222.1:c.-1367A>C, NM_001080415.2:c.-3A>C, NM_001080415.1:c.-3A>C, NM_001320219.2:c.-3A>C, NM_001320219.1:c.-3A>C, NM_001320220.2:c.-1186A>C, NM_001320220.1:c.-1186A>C

Select item 14866455104.

rs1486645510 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:143000472 (GRCh38)
3:142719314 (GRCh37)
Canonical SPDI:: NC_000003.12:143000471:C:T
Gene:: U2SURP (Varview), LOC100289361 (Varview), PAQR9-AS1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.143000472C>T, NC_000003.11:g.142719314C>T

Select item 14863161745.

rs1486316174 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:143000952 (GRCh38)
3:142719794 (GRCh37)
Canonical SPDI:: NC_000003.12:143000951:C:A
Gene:: U2SURP (Varview), LOC100289361 (Varview), PAQR9-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.143000952C>A, NC_000003.11:g.142719794C>A, NR_034032.1:n.516G>T

Select item 14862414426.

rs1486241442 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:143003194 (GRCh38)
3:142722036 (GRCh37)
Canonical SPDI:: NC_000003.12:143003193:T:C
Gene:: U2SURP (Varview), LOC100289361 (Varview)
Functional Consequence:: intron_variant,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_000003.12:g.143003194T>C, NC_000003.11:g.142722036T>C

Select item 14861189667.

rs1486118966 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:143000575 (GRCh38)
3:142719417 (GRCh37)
Canonical SPDI:: NC_000003.12:143000574:G:A
Gene:: U2SURP (Varview), LOC100289361 (Varview), PAQR9-AS1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.143000575G>A, NC_000003.11:g.142719417G>A

Select item 14855986248.

rs1485598624 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:143002253 (GRCh38)
3:142721095 (GRCh37)
Canonical SPDI:: NC_000003.12:143002252:C:T
Gene:: U2SURP (Varview), LOC100289361 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.143002253C>T, NC_000003.11:g.142721095C>T

Select item 14843182949.

rs1484318294 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:143002463 (GRCh38)
3:142721305 (GRCh37)
Canonical SPDI:: NC_000003.12:143002462:G:C
Gene:: U2SURP (Varview), LOC100289361 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.143002463G>C, NC_000003.11:g.142721305G>C

Select item 148415572410.

rs1484155724 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:143001465 (GRCh38)
3:142720307 (GRCh37)
Canonical SPDI:: NC_000003.12:143001464:T:G
Gene:: U2SURP (Varview), LOC100289361 (Varview), PAQR9-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,non_coding_transcript_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_000003.12:g.143001465T>G, NC_000003.11:g.142720307T>G, NR_034032.1:n.3A>C

Select item 148369897611.

rs1483698976 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:143001558 (GRCh38)
3:142720400 (GRCh37)
Canonical SPDI:: NC_000003.12:143001557:C:G,NC_000003.12:143001557:C:T
Gene:: U2SURP (Varview), LOC100289361 (Varview), PAQR9-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.143001558C>G, NC_000003.12:g.143001558C>T, NC_000003.11:g.142720400C>G, NC_000003.11:g.142720400C>T, NM_001320222.1:c.-1435C>G, NM_001320222.1:c.-1435C>T, NM_001080415.1:c.-71C>G, NM_001080415.1:c.-71C>T, NM_001320219.1:c.-71C>G, NM_001320219.1:c.-71C>T, NM_001320220.1:c.-1254C>G, NM_001320220.1:c.-1254C>T

Select item 148048902412.

rs1480489024 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:143002945 (GRCh38)
3:142721787 (GRCh37)
Canonical SPDI:: NC_000003.12:143002944:T:C
Gene:: U2SURP (Varview), LOC100289361 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.143002945T>C, NC_000003.11:g.142721787T>C

Select item 147984381913.

rs1479843819 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACT>- [Show Flanks]
Chromosome:: 3:143002092 (GRCh38)
3:142720934 (GRCh37)
Canonical SPDI:: NC_000003.12:143002085:CTCACTCACT:CTCACT
Gene:: U2SURP (Varview), LOC100289361 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CTCACT=0./0 (ALFA)
-=0.000026/7 (TOPMED)
HGVS:: NC_000003.12:g.143002088CACT[1], NC_000003.11:g.142720930CACT[1]

Select item 147951740514.

rs1479517405 [Homo sapiens]

Variant type:: DEL
Alleles:: GTT>- [Show Flanks]
Chromosome:: 3:143002447 (GRCh38)
3:142721289 (GRCh37)
Canonical SPDI:: NC_000003.12:143002446:GTT:
Gene:: U2SURP (Varview), LOC100289361 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.143002447_143002449del, NC_000003.11:g.142721289_142721291del

Select item 147881834715.

rs1478818347 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:143001569 (GRCh38)
3:142720411 (GRCh37)
Canonical SPDI:: NC_000003.12:143001568:T:C
Gene:: U2SURP (Varview), LOC100289361 (Varview), PAQR9-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_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_000003.12:g.143001569T>C, NC_000003.11:g.142720411T>C, NM_001320222.1:c.-1424T>C, NM_001080415.1:c.-60T>C, NM_001320219.1:c.-60T>C, NM_001320220.1:c.-1243T>C

Select item 147730584216.

rs1477305842 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 3:143001738 (GRCh38)
3:142720580 (GRCh37)
Canonical SPDI:: NC_000003.12:143001737:TT:T
Gene:: U2SURP (Varview), LOC100289361 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.143001739del, NC_000003.11:g.142720581del

Select item 147588374617.

rs1475883746 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:143000552 (GRCh38)
3:142719394 (GRCh37)
Canonical SPDI:: NC_000003.12:143000551:G:A
Gene:: U2SURP (Varview), LOC100289361 (Varview), PAQR9-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant,2KB_upstream_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_000003.12:g.143000552G>A, NC_000003.11:g.142719394G>A

Select item 147366747218.

rs1473667472 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 3:143002165 (GRCh38)
3:142721007 (GRCh37)
Canonical SPDI:: NC_000003.12:143002164:A:
Gene:: U2SURP (Varview), LOC100289361 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000003.12:g.143002165del, NC_000003.11:g.142721007del

Select item 147363110019.

rs1473631100 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:143001794 (GRCh38)
3:142720636 (GRCh37)
Canonical SPDI:: NC_000003.12:143001793:G:T
Gene:: U2SURP (Varview), LOC100289361 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,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.143001794G>T, NC_000003.11:g.142720636G>T

Select item 147279776720.

rs1472797767 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:143001167 (GRCh38)
3:142720009 (GRCh37)
Canonical SPDI:: NC_000003.12:143001166:G:C
Gene:: U2SURP (Varview), LOC100289361 (Varview), PAQR9-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,2KB_upstream_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_000003.12:g.143001167G>C, NC_000003.11:g.142720009G>C, NR_034032.1:n.301C>G