SNP Links for Gene (Select 10101) - SNP

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Select item 14909471471.

rs1490947147 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1789216 (GRCh38)
16:1839217 (GRCh37)
Canonical SPDI:: NC_000016.10:1789215:G:A
Gene:: NUBP2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.1789216G>A, NC_000016.9:g.1839217G>A, NG_011778.1:g.9518C>T

Select item 14907108182.

rs1490710818 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1782014 (GRCh38)
16:1832015 (GRCh37)
Canonical SPDI:: NC_000016.10:1782013:G:A
Gene:: NUBP2 (Varview), SPSB3 (Varview), EME2 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.1782014G>A, NC_000016.9:g.1832015G>A

Select item 14906963833.

rs1490696383 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1783487 (GRCh38)
16:1833488 (GRCh37)
Canonical SPDI:: NC_000016.10:1783486:C:T
Gene:: NUBP2 (Varview), SPSB3 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.1783487C>T, NC_000016.9:g.1833488C>T

Select item 14906218344.

rs1490621834 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1788627 (GRCh38)
16:1838628 (GRCh37)
Canonical SPDI:: NC_000016.10:1788626:C:T
Gene:: NUBP2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.1788627C>T, NC_000016.9:g.1838628C>T, NG_011778.1:g.10107G>A, XM_005255027.4:c.549C>T, XM_005255027.3:c.549C>T, XM_005255027.2:c.549C>T, XM_005255027.1:c.549C>T, NM_012225.4:c.729C>T, NM_012225.3:c.729C>T, NM_012225.2:c.729C>T, XM_017022832.3:c.591C>T, XM_017022832.2:c.591C>T, XM_017022832.1:c.591C>T, XM_011522338.3:c.558C>T, XM_011522338.2:c.558C>T, XM_011522338.1:c.558C>T, NM_001284501.2:c.549C>T, NM_001284501.1:c.549C>T, NR_104318.2:n.591C>T, NR_104318.1:n.628C>T, NM_001284502.2:c.283C>T, NM_001284502.1:c.283C>T, NP_001271431.1:p.Pro95Ser

Select item 14901227265.

rs1490122726 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1786059 (GRCh38)
16:1836060 (GRCh37)
Canonical SPDI:: NC_000016.10:1786058:G:A
Gene:: NUBP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.1786059G>A, NC_000016.9:g.1836060G>A

Select item 14900013176.

rs1490001317 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:1781133 (GRCh38)
16:1831134 (GRCh37)
Canonical SPDI:: NC_000016.10:1781132:T:A
Gene:: NUBP2 (Varview), SPSB3 (Varview), EME2 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,3_prime_UTR_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_000016.10:g.1781133T>A, NC_000016.9:g.1831134T>A, NM_001257370.2:c.*4895T>A

Select item 14898331517.

rs1489833151 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:1787715 (GRCh38)
16:1837716 (GRCh37)
Canonical SPDI:: NC_000016.10:1787714:G:A,NC_000016.10:1787714:G:T
Gene:: NUBP2 (Varview)
Functional Consequence:: missense_variant,stop_gained,coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.1787715G>A, NC_000016.10:g.1787715G>T, NC_000016.9:g.1837716G>A, NC_000016.9:g.1837716G>T, XM_005255027.4:c.193G>A, XM_005255027.4:c.193G>T, XM_005255027.3:c.193G>A, XM_005255027.3:c.193G>T, XM_005255027.2:c.193G>A, XM_005255027.2:c.193G>T, XM_005255027.1:c.193G>A, XM_005255027.1:c.193G>T, NM_012225.4:c.373G>A, NM_012225.4:c.373G>T, NM_012225.3:c.373G>A, NM_012225.3:c.373G>T, NM_012225.2:c.373G>A, NM_012225.2:c.373G>T, XM_017022832.3:c.235G>A, XM_017022832.3:c.235G>T, XM_017022832.2:c.235G>A, XM_017022832.2:c.235G>T, XM_017022832.1:c.235G>A, XM_017022832.1:c.235G>T, XM_011522338.3:c.202G>A, XM_011522338.3:c.202G>T, XM_011522338.2:c.202G>A, XM_011522338.2:c.202G>T, XM_011522338.1:c.202G>A, XM_011522338.1:c.202G>T, NM_001284501.2:c.193G>A, NM_001284501.2:c.193G>T, NM_001284501.1:c.193G>A, NM_001284501.1:c.193G>T, NR_104318.2:n.235G>A, NR_104318.2:n.235G>T, NR_104318.1:n.272G>A, NR_104318.1:n.272G>T, NM_001284502.2:c.-51G>A, NM_001284502.2:c.-51G>T, NM_001284502.1:c.-51G>A, NM_001284502.1:c.-51G>T, XP_005255084.1:p.Glu65Lys, XP_005255084.1:p.Glu65Ter, NP_036357.1:p.Glu125Lys, NP_036357.1:p.Glu125Ter, XP_016878321.1:p.Glu79Lys, XP_016878321.1:p.Glu79Ter, XP_011520640.1:p.Glu68Lys, XP_011520640.1:p.Glu68Ter, NP_001271430.1:p.Glu65Lys, NP_001271430.1:p.Glu65Ter

Select item 14890216028.

rs1489021602 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:1782834 (GRCh38)
16:1832835 (GRCh37)
Canonical SPDI:: NC_000016.10:1782833:C:G,NC_000016.10:1782833:C:T
Gene:: NUBP2 (Varview), SPSB3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.1782834C>G, NC_000016.10:g.1782834C>T, NC_000016.9:g.1832835C>G, NC_000016.9:g.1832835C>T

Select item 14889351809.

rs1488935180 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 16:1784237 (GRCh38)
16:1834238 (GRCh37)
Canonical SPDI:: NC_000016.10:1784236:G:C,NC_000016.10:1784236:G:T
Gene:: NUBP2 (Varview), SPSB3 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.1784237G>C, NC_000016.10:g.1784237G>T, NC_000016.9:g.1834238G>C, NC_000016.9:g.1834238G>T, XM_017022832.3:c.-1589G>C, XM_017022832.3:c.-1589G>T, XM_011522338.3:c.-89G>C, XM_011522338.3:c.-89G>T, XM_011522338.2:c.-89G>C, XM_011522338.2:c.-89G>T, XM_011522338.1:c.-89G>C, XM_011522338.1:c.-89G>T

Select item 148837416610.

rs1488374166 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:1786408 (GRCh38)
16:1836409 (GRCh37)
Canonical SPDI:: NC_000016.10:1786407:T:G
Gene:: NUBP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.1786408T>G, NC_000016.9:g.1836409T>G

Select item 148831591511.

rs1488315915 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1784722 (GRCh38)
16:1834723 (GRCh37)
Canonical SPDI:: NC_000016.10:1784721:C:T
Gene:: NUBP2 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000036/5 (GnomAD)
HGVS:: NC_000016.10:g.1784722C>T, NC_000016.9:g.1834723C>T, XM_017022832.3:c.-1104C>T

Select item 148831533412.

rs1488315334 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1789278 (GRCh38)
16:1839279 (GRCh37)
Canonical SPDI:: NC_000016.10:1789277:G:A
Gene:: NUBP2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.1789278G>A, NC_000016.9:g.1839279G>A, NG_011778.1:g.9456C>T

Select item 148826515713.

rs1488265157 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 16:1788621 (GRCh38)
16:1838622 (GRCh37)
Canonical SPDI:: NC_000016.10:1788620:C:A,NC_000016.10:1788620:C:G
Gene:: NUBP2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000016.10:g.1788621C>A, NC_000016.10:g.1788621C>G, NC_000016.9:g.1838622C>A, NC_000016.9:g.1838622C>G, NG_011778.1:g.10113G>T, NG_011778.1:g.10113G>C, XM_005255027.4:c.543C>A, XM_005255027.4:c.543C>G, XM_005255027.3:c.543C>A, XM_005255027.3:c.543C>G, XM_005255027.2:c.543C>A, XM_005255027.2:c.543C>G, XM_005255027.1:c.543C>A, XM_005255027.1:c.543C>G, NM_012225.4:c.723C>A, NM_012225.4:c.723C>G, NM_012225.3:c.723C>A, NM_012225.3:c.723C>G, NM_012225.2:c.723C>A, NM_012225.2:c.723C>G, XM_017022832.3:c.585C>A, XM_017022832.3:c.585C>G, XM_017022832.2:c.585C>A, XM_017022832.2:c.585C>G, XM_017022832.1:c.585C>A, XM_017022832.1:c.585C>G, XM_011522338.3:c.552C>A, XM_011522338.3:c.552C>G, XM_011522338.2:c.552C>A, XM_011522338.2:c.552C>G, XM_011522338.1:c.552C>A, XM_011522338.1:c.552C>G, NM_001284501.2:c.543C>A, NM_001284501.2:c.543C>G, NM_001284501.1:c.543C>A, NM_001284501.1:c.543C>G, NR_104318.2:n.585C>A, NR_104318.2:n.585C>G, NR_104318.1:n.622C>A, NR_104318.1:n.622C>G, NM_001284502.2:c.277C>A, NM_001284502.2:c.277C>G, NM_001284502.1:c.277C>A, NM_001284502.1:c.277C>G, XP_005255084.1:p.Asp181Glu, XP_005255084.1:p.Asp181Glu, NP_036357.1:p.Asp241Glu, NP_036357.1:p.Asp241Glu, XP_016878321.1:p.Asp195Glu, XP_016878321.1:p.Asp195Glu, XP_011520640.1:p.Asp184Glu, XP_011520640.1:p.Asp184Glu, NP_001271430.1:p.Asp181Glu, NP_001271430.1:p.Asp181Glu, NP_001271431.1:p.Leu93Ile, NP_001271431.1:p.Leu93Val

Select item 148791053614.

rs1487910536 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1783893 (GRCh38)
16:1833894 (GRCh37)
Canonical SPDI:: NC_000016.10:1783892:C:T
Gene:: NUBP2 (Varview), SPSB3 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_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_000016.10:g.1783893C>T, NC_000016.9:g.1833894C>T, NM_001284501.2:c.-338C>T, NM_001284501.1:c.-338C>T

Select item 148784893015.

rs1487848930 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:1788961 (GRCh38)
16:1838962 (GRCh37)
Canonical SPDI:: NC_000016.10:1788960:C:A,NC_000016.10:1788960:C:T
Gene:: NUBP2 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.1788961C>A, NC_000016.10:g.1788961C>T, NC_000016.9:g.1838962C>A, NC_000016.9:g.1838962C>T, NG_011778.1:g.9773G>T, NG_011778.1:g.9773G>A, XM_005255027.4:c.*247C>A, XM_005255027.4:c.*247C>T, XM_005255027.3:c.*247C>A, XM_005255027.3:c.*247C>T, XM_005255027.2:c.*247C>A, XM_005255027.2:c.*247C>T, XM_005255027.1:c.*247C>A, XM_005255027.1:c.*247C>T, NM_012225.4:c.*247C>A, NM_012225.4:c.*247C>T, NM_012225.3:c.*247C>A, NM_012225.3:c.*247C>T, NM_012225.2:c.*247C>A, NM_012225.2:c.*247C>T, XM_017022832.3:c.*247C>A, XM_017022832.3:c.*247C>T, XM_017022832.2:c.*247C>A, XM_017022832.2:c.*247C>T, XM_017022832.1:c.*247C>A, XM_017022832.1:c.*247C>T, XM_011522338.3:c.*247C>A, XM_011522338.3:c.*247C>T, XM_011522338.2:c.*247C>A, XM_011522338.2:c.*247C>T, XM_011522338.1:c.*247C>A, XM_011522338.1:c.*247C>T, NM_001284501.2:c.*247C>A, NM_001284501.2:c.*247C>T, NM_001284501.1:c.*247C>A, NM_001284501.1:c.*247C>T, NR_104318.2:n.925C>A, NR_104318.2:n.925C>T, NR_104318.1:n.962C>A, NR_104318.1:n.962C>T, NM_001284502.2:c.617C>A, NM_001284502.2:c.617C>T, NM_001284502.1:c.617C>A, NM_001284502.1:c.617C>T, NP_001271431.1:p.Ser206Tyr, NP_001271431.1:p.Ser206Phe

Select item 148777405216.

rs1487774052 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1789212 (GRCh38)
16:1839213 (GRCh37)
Canonical SPDI:: NC_000016.10:1789211:C:T
Gene:: NUBP2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_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_000016.10:g.1789212C>T, NC_000016.9:g.1839213C>T, NG_011778.1:g.9522G>A

Select item 148742358617.

rs1487423586 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1788190 (GRCh38)
16:1838191 (GRCh37)
Canonical SPDI:: NC_000016.10:1788189:C:T
Gene:: NUBP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.1788190C>T, NC_000016.9:g.1838191C>T, XM_005255027.4:c.473C>T, XM_005255027.3:c.473C>T, XM_005255027.2:c.473C>T, XM_005255027.1:c.473C>T, NM_012225.4:c.653C>T, NM_012225.3:c.653C>T, NM_012225.2:c.653C>T, XM_017022832.3:c.515C>T, XM_017022832.2:c.515C>T, XM_017022832.1:c.515C>T, XM_011522338.3:c.482C>T, XM_011522338.2:c.482C>T, XM_011522338.1:c.482C>T, NM_001284501.2:c.473C>T, NM_001284501.1:c.473C>T, NR_104318.2:n.515C>T, NR_104318.1:n.552C>T, NM_001284502.2:c.207C>T, NM_001284502.1:c.207C>T, XP_005255084.1:p.Ala158Val, NP_036357.1:p.Ala218Val, XP_016878321.1:p.Ala172Val, XP_011520640.1:p.Ala161Val, NP_001271430.1:p.Ala158Val

Select item 148736946118.

rs1487369461 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 16:1784974 (GRCh38)
16:1834975 (GRCh37)
Canonical SPDI:: NC_000016.10:1784973:CCC:CC
Gene:: NUBP2 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000016.10:g.1784976del, NC_000016.9:g.1834977del, XM_017022832.3:c.-850del, XM_017022832.2:c.-850del

Select item 148729837719.

rs1487298377 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:1783013 (GRCh38)
16:1833014 (GRCh37)
Canonical SPDI:: NC_000016.10:1783012:G:C
Gene:: NUBP2 (Varview), SPSB3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_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_000016.10:g.1783013G>C, NC_000016.9:g.1833014G>C, NM_012225.4:c.-8G>C, NM_012225.3:c.-8G>C, NM_012225.2:c.-8G>C, NM_001284501.2:c.-378G>C, NM_001284501.1:c.-378G>C, NR_104318.2:n.54G>C, NR_104318.1:n.91G>C, NM_001284502.2:c.-232G>C, NM_001284502.1:c.-232G>C

Select item 148724681220.

rs1487246812 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1781949 (GRCh38)
16:1831950 (GRCh37)
Canonical SPDI:: NC_000016.10:1781948:C:T
Gene:: NUBP2 (Varview), SPSB3 (Varview), EME2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.1781949C>T, NC_000016.9:g.1831950C>T

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