SNP Links for Gene (Select 55135) - SNP

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Select item 14913294341.

rs1491329434 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 17:7691392 (GRCh38)
17:7594710 (GRCh37)
Canonical SPDI:: NC_000017.11:7691389:GTGT:GT
Gene:: WRAP53 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGT=0./0 (ALFA)
-=0.000015/2 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.7691390GT[1], NC_000017.10:g.7594708GT[1], NG_017013.2:g.1158AC[1], NG_028245.1:g.10320GT[1]

Select item 14912985272.

rs1491298527 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAT,TATAT,TTAT,TTATAT,TTATATAT,TTATATATAT,TTATATATATATAT,TTATATATATATATAT,TTATATATATATATATAT [Show Flanks]
Chromosome:: 17:7699476 (GRCh38)
17:7602795 (GRCh37)
Canonical SPDI:: NC_000017.11:7699476:T:TTAT,NC_000017.11:7699476:T:TTATAT,NC_000017.11:7699476:T:TTTAT,NC_000017.11:7699476:T:TTTATAT,NC_000017.11:7699476:T:TTTATATAT,NC_000017.11:7699476:T:TTTATATATAT,NC_000017.11:7699476:T:TTTATATATATATAT,NC_000017.11:7699476:T:TTTATATATATATATAT,NC_000017.11:7699476:T:TTTATATATATATATATAT
Gene:: WRAP53 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTATAT=0./0 (ALFA)
HGVS:: NC_000017.11:g.7699477_7699478insTAT, NC_000017.11:g.7699477_7699478insTATAT, NC_000017.11:g.7699477_7699478insTTAT, NC_000017.11:g.7699477_7699478insTTATAT, NC_000017.11:g.7699477_7699478insTTATATAT, NC_000017.11:g.7699477_7699478insTTATATATAT, NC_000017.11:g.7699477_7699478insTTATATATATATAT, NC_000017.11:g.7699477_7699478insTTATATATATATATAT, NC_000017.11:g.7699477_7699478insTTATATATATATATATAT, NC_000017.10:g.7602795_7602796insTAT, NC_000017.10:g.7602795_7602796insTATAT, NC_000017.10:g.7602795_7602796insTTAT, NC_000017.10:g.7602795_7602796insTTATAT, NC_000017.10:g.7602795_7602796insTTATATAT, NC_000017.10:g.7602795_7602796insTTATATATAT, NC_000017.10:g.7602795_7602796insTTATATATATATAT, NC_000017.10:g.7602795_7602796insTTATATATATATATAT, NC_000017.10:g.7602795_7602796insTTATATATATATATATAT, NG_028245.1:g.18407_18408insTAT, NG_028245.1:g.18407_18408insTATAT, NG_028245.1:g.18407_18408insTTAT, NG_028245.1:g.18407_18408insTTATAT, NG_028245.1:g.18407_18408insTTATATAT, NG_028245.1:g.18407_18408insTTATATATAT, NG_028245.1:g.18407_18408insTTATATATATATAT, NG_028245.1:g.18407_18408insTTATATATATATATAT, NG_028245.1:g.18407_18408insTTATATATATATATATAT

Select item 14911059803.

rs1491105980 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,ATAA [Show Flanks]
Chromosome:: 17:7699521 (GRCh38)
17:7602840 (GRCh37)
Canonical SPDI:: NC_000017.11:7699521::A,NC_000017.11:7699521::AA,NC_000017.11:7699521::ATAA
Gene:: WRAP53 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAA=0./0 (ALFA)
A=0.0061/98 (TOMMO)
A=0.05342/925 (GnomAD)
HGVS:: NC_000017.11:g.7699521_7699522insA, NC_000017.11:g.7699521_7699522insAA, NC_000017.11:g.7699521_7699522insATAA, NC_000017.10:g.7602839_7602840insA, NC_000017.10:g.7602839_7602840insAA, NC_000017.10:g.7602839_7602840insATAA, NG_028245.1:g.18451_18452insA, NG_028245.1:g.18451_18452insAA, NG_028245.1:g.18451_18452insATAA

Select item 14908696144.

rs1490869614 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7694627 (GRCh38)
17:7597945 (GRCh37)
Canonical SPDI:: NC_000017.11:7694626:G:A
Gene:: WRAP53 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.7694627G>A, NC_000017.10:g.7597945G>A, NG_028245.1:g.13557G>A

Select item 14905680605.

rs1490568060 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:7687516 (GRCh38)
17:7590834 (GRCh37)
Canonical SPDI:: NC_000017.11:7687515:T:C
Gene:: TP53 (Varview), WRAP53 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.7687516T>C, NC_000017.10:g.7590834T>C, NG_017013.2:g.5035A>G, NM_000546.5:c.-168A>G, NM_001126114.2:c.-168A>G, NM_001126113.2:c.-168A>G, NM_001126112.2:c.-165A>G, NM_001126118.1:c.-402A>G, NG_028245.1:g.6446T>C, NM_001143991.2:c.-89T>C, NM_001143991.1:c.-89T>C, NM_001276696.1:c.-285A>G, NM_001276695.1:c.-285A>G, NM_001276760.1:c.-285A>G, NM_001276761.1:c.-282A>G

Select item 14900866546.

rs1490086654 [Homo sapiens]

Variant type:: DEL
Alleles:: TTTTG>- [Show Flanks]
Chromosome:: 17:7692767 (GRCh38)
17:7596085 (GRCh37)
Canonical SPDI:: NC_000017.11:7692766:TTTTG:
Gene:: WRAP53 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.001012/12 (ALFA)
-=0.000109/14 (GnomAD)
HGVS:: NC_000017.11:g.7692767_7692771del, NC_000017.10:g.7596085_7596089del, NG_028245.1:g.11697_11701del

Select item 14900702347.

rs1490070234 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:7687064 (GRCh38)
17:7590382 (GRCh37)
Canonical SPDI:: NC_000017.11:7687063:G:T
Gene:: TP53 (Varview), WRAP53 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.7687064G>T, NC_000017.10:g.7590382G>T, NG_017013.2:g.5487C>A, NG_028245.1:g.5994G>T

Select item 14899899668.

rs1489989966 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:7693012 (GRCh38)
17:7596330 (GRCh37)
Canonical SPDI:: NC_000017.11:7693011:A:T
Gene:: WRAP53 (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_000017.11:g.7693012A>T, NC_000017.10:g.7596330A>T, NG_028245.1:g.11942A>T

Select item 14898717909.

rs1489871790 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7694025 (GRCh38)
17:7597343 (GRCh37)
Canonical SPDI:: NC_000017.11:7694024:G:A
Gene:: WRAP53 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.0006/17 (TOMMO)
HGVS:: NC_000017.11:g.7694025G>A, NC_000017.10:g.7597343G>A, NG_028245.1:g.12955G>A

Select item 148984668610.

rs1489846686 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:7699773 (GRCh38)
17:7603091 (GRCh37)
Canonical SPDI:: NC_000017.11:7699772:G:C
Gene:: WRAP53 (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_000017.11:g.7699773G>C, NC_000017.10:g.7603091G>C, NG_028245.1:g.18703G>C

Select item 148981748311.

rs1489817483 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:7699479 (GRCh38)
17:7602797 (GRCh37)
Canonical SPDI:: NC_000017.11:7699478:T:A
Gene:: WRAP53 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000017.11:g.7699479T>A, NC_000017.10:g.7602797T>A, NG_028245.1:g.18409T>A

Select item 148966148212.

rs1489661482 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:7694941 (GRCh38)
17:7598259 (GRCh37)
Canonical SPDI:: NC_000017.11:7694940:A:T
Gene:: WRAP53 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000022/3 (GnomAD)
HGVS:: NC_000017.11:g.7694941A>T, NC_000017.10:g.7598259A>T, NG_028245.1:g.13871A>T

Select item 148962137913.

rs1489621379 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 17:7700992 (GRCh38)
17:7604310 (GRCh37)
Canonical SPDI:: NC_000017.11:7700991:A:C,NC_000017.11:7700991:A:G,NC_000017.11:7700991:A:T
Gene:: WRAP53 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.003552/58 (ALFA)
G=0.000008/1 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.7700992A>C, NC_000017.11:g.7700992A>G, NC_000017.11:g.7700992A>T, NC_000017.10:g.7604310A>C, NC_000017.10:g.7604310A>G, NC_000017.10:g.7604310A>T, NG_028245.1:g.19922A>C, NG_028245.1:g.19922A>G, NG_028245.1:g.19922A>T

Select item 148936340414.

rs1489363404 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:7686628 (GRCh38)
17:7589946 (GRCh37)
Canonical SPDI:: NC_000017.11:7686627:G:C
Gene:: TP53 (Varview), WRAP53 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00005/7 (GnomAD)
C=0.000053/14 (TOPMED)
HGVS:: NC_000017.11:g.7686628G>C, NC_000017.10:g.7589946G>C, NG_017013.2:g.5923C>G, NG_028245.1:g.5558G>C

Select item 148929302615.

rs1489293026 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:7685815 (GRCh38)
17:7589133 (GRCh37)
Canonical SPDI:: NC_000017.11:7685814:T:C
Gene:: TP53 (Varview), WRAP53 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,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_000017.11:g.7685815T>C, NC_000017.10:g.7589133T>C, NG_017013.2:g.6736A>G, NG_028245.1:g.4745T>C

Select item 148926981216.

rs1489269812 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:7702612 (GRCh38)
17:7605930 (GRCh37)
Canonical SPDI:: NC_000017.11:7702611:A:T
Gene:: WRAP53 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.7702612A>T, NC_000017.10:g.7605930A>T, NG_028245.1:g.21542A>T

Select item 148919090417.

rs1489190904 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7703130 (GRCh38)
17:7606448 (GRCh37)
Canonical SPDI:: NC_000017.11:7703129:C:T
Gene:: WRAP53 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.7703130C>T, NC_000017.10:g.7606448C>T, NG_028245.1:g.22060C>T

Select item 148915865018.

rs1489158650 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7703346 (GRCh38)
17:7606664 (GRCh37)
Canonical SPDI:: NC_000017.11:7703345:C:T
Gene:: EFNB3 (Varview), WRAP53 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,genic_downstream_transcript_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.7703346C>T, NC_000017.10:g.7606664C>T, NG_028245.1:g.22276C>T, NM_018081.2:c.1507C>T, NM_001143991.2:c.1507C>T, NM_001143991.1:c.1507C>T, NM_001143990.2:c.1507C>T, NM_001143990.1:c.1507C>T, NM_001143992.2:c.1507C>T, NM_001143992.1:c.1507C>T, XM_011523952.3:c.868C>T, XM_011523952.2:c.868C>T, XM_011523952.1:c.868C>T, NP_060551.2:p.Leu503Phe, NP_001137463.1:p.Leu503Phe, NP_001137462.1:p.Leu503Phe, NP_001137464.1:p.Leu503Phe, XP_011522254.1:p.Leu290Phe

Select item 148913849719.

rs1489138497 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:7691956 (GRCh38)
17:7595274 (GRCh37)
Canonical SPDI:: NC_000017.11:7691955:C:G
Gene:: WRAP53 (Varview)
Functional Consequence:: intron_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_000017.11:g.7691956C>G, NC_000017.10:g.7595274C>G, NG_017013.2:g.595G>C, NG_028245.1:g.10886C>G

Select item 148910777320.

rs1489107773 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:7687122 (GRCh38)
17:7590440 (GRCh37)
Canonical SPDI:: NC_000017.11:7687121:A:C
Gene:: TP53 (Varview), WRAP53 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000026/7 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000017.11:g.7687122A>C, NC_000017.10:g.7590440A>C, NG_017013.2:g.5429T>G, NG_028245.1:g.6052A>C

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