SNP Links for Gene (Select 90780) - SNP

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Select item 14909150181.

rs1490915018 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:154957351 (GRCh38)
1:154929827 (GRCh37)
Canonical SPDI:: NC_000001.11:154957350:G:C
Gene:: PBXIP1 (Varview), PYGO2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.154957351G>C, NC_000001.10:g.154929827G>C, NM_138300.4:c.*1428C>G, NM_138300.3:c.*1428C>G

Select item 14908596072.

rs1490859607 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:154960939 (GRCh38)
1:154933415 (GRCh37)
Canonical SPDI:: NC_000001.11:154960938:G:A
Gene:: PYGO2 (Varview), LOC101928120 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.154960939G>A, NC_000001.10:g.154933415G>A, NG_029028.1:g.18545C>T

Select item 14900789673.

rs1490078967 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:154957311 (GRCh38)
1:154929787 (GRCh37)
Canonical SPDI:: NC_000001.11:154957310:G:C
Gene:: PBXIP1 (Varview), PYGO2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000023/6 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.154957311G>C, NC_000001.10:g.154929787G>C, NM_138300.4:c.*1468C>G, NM_138300.3:c.*1468C>G

Select item 14895300914.

rs1489530091 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:154962312 (GRCh38)
1:154934788 (GRCh37)
Canonical SPDI:: NC_000001.11:154962311:A:G
Gene:: SHC1 (Varview), PYGO2 (Varview), LOC101928120 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.154962312A>G, NC_000001.10:g.154934788A>G, NG_029028.1:g.17172T>C, NM_183001.5:c.*1491T>C, NM_183001.4:c.*1491T>C, NM_003029.5:c.*1491T>C, NM_003029.4:c.*1491T>C, NM_001130040.2:c.*1491T>C, NM_001130040.1:c.*1491T>C, NM_001202859.2:c.*1491T>C, NM_001202859.1:c.*1491T>C, NM_001130041.2:c.*1491T>C, NM_001130041.1:c.*1491T>C, XM_011509892.4:c.*1491T>C, XM_011509892.3:c.*1491T>C, XM_011509892.2:c.*1491T>C, XM_011509892.1:c.*1491T>C, XM_011509893.4:c.*1491T>C, XM_011509893.3:c.*1491T>C, XM_011509893.2:c.*1491T>C, XM_011509893.1:c.*1491T>C, XM_011509894.4:c.*1491T>C, XM_011509894.3:c.*1491T>C, XM_011509894.2:c.*1491T>C, XM_011509894.1:c.*1491T>C, XM_017002081.3:c.*1491T>C, XM_017002081.2:c.*1491T>C, XM_017002081.1:c.*1491T>C, XM_011509897.2:c.*1491T>C, XM_011509897.1:c.*1491T>C, XM_017002083.2:c.*1491T>C, XM_017002083.1:c.*1491T>C, XM_047427958.1:c.*1491T>C, XM_047427959.1:c.*1491T>C, XM_047427975.1:c.*1491T>C, XM_047427983.1:c.*1491T>C, XM_047427960.1:c.*1491T>C, XM_047427961.1:c.*1491T>C, XM_047427962.1:c.*1491T>C, XM_047427963.1:c.*1491T>C, XM_047427964.1:c.*1491T>C, XM_047427971.1:c.*1491T>C, XM_047427973.1:c.*1491T>C, XM_047427974.1:c.*1491T>C, XM_047427982.1:c.*1491T>C, XM_047427978.1:c.*1491T>C, XM_047427984.1:c.*1491T>C, XM_047427988.1:c.*1491T>C, XM_047427989.1:c.*1491T>C, XM_047427992.1:c.*1491T>C, XM_047427995.1:c.*1491T>C, XM_047427993.1:c.*1491T>C, XM_047427970.1:c.*1491T>C, XM_047427972.1:c.*1491T>C, XM_047427986.1:c.*1491T>C, XM_047427991.1:c.*1491T>C, XM_047427994.1:c.*1491T>C, NM_001321726.1:c.*43A>G, NR_171036.1:n.775A>G

Select item 14894975565.

rs1489497556 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:154961720 (GRCh38)
1:154934196 (GRCh37)
Canonical SPDI:: NC_000001.11:154961719:G:A
Gene:: PYGO2 (Varview), LOC101928120 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_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_000001.11:g.154961720G>A, NC_000001.10:g.154934196G>A, NG_029028.1:g.17764C>T, NM_138300.4:c.-144C>T, NM_138300.3:c.-144C>T, NM_001321726.1:c.108G>A, NR_171036.1:n.183G>A

Select item 14894696716.

rs1489469671 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:154959685 (GRCh38)
1:154932161 (GRCh37)
Canonical SPDI:: NC_000001.11:154959684:A:G
Gene:: PYGO2 (Varview), LOC101928120 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.154959685A>G, NC_000001.10:g.154932161A>G, NM_138300.4:c.315T>C, NM_138300.3:c.315T>C

Select item 14894680437.

rs1489468043 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:154961758 (GRCh38)
1:154934234 (GRCh37)
Canonical SPDI:: NC_000001.11:154961757:G:C
Gene:: PYGO2 (Varview), LOC101928120 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.154961758G>C, NC_000001.10:g.154934234G>C, NG_029028.1:g.17726C>G, NM_138300.4:c.-182C>G, NM_138300.3:c.-182C>G, NM_001321726.1:c.146G>C, NR_171036.1:n.221G>C

Select item 14887739998.

rs1488773999 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:154960790 (GRCh38)
1:154933266 (GRCh37)
Canonical SPDI:: NC_000001.11:154960789:G:T
Gene:: PYGO2 (Varview), LOC101928120 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.154960790G>T, NC_000001.10:g.154933266G>T, NG_029028.1:g.18694C>A

Select item 14886986729.

rs1488698672 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:154960047 (GRCh38)
1:154932523 (GRCh37)
Canonical SPDI:: NC_000001.11:154960046:G:A
Gene:: PYGO2 (Varview), LOC101928120 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000079/21 (TOPMED)
HGVS:: NC_000001.11:g.154960047G>A, NC_000001.10:g.154932523G>A

Select item 148856259410.

rs1488562594 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:154962628 (GRCh38)
1:154935104 (GRCh37)
Canonical SPDI:: NC_000001.11:154962627:T:C
Gene:: SHC1 (Varview), PYGO2 (Varview), LOC101928120 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,downstream_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_000001.11:g.154962628T>C, NC_000001.10:g.154935104T>C, NG_029028.1:g.16856A>G, NM_183001.5:c.*1175A>G, NM_183001.4:c.*1175A>G, NM_003029.5:c.*1175A>G, NM_003029.4:c.*1175A>G, NM_001130040.2:c.*1175A>G, NM_001130040.1:c.*1175A>G, NM_001202859.2:c.*1175A>G, NM_001202859.1:c.*1175A>G, NM_001130041.2:c.*1175A>G, NM_001130041.1:c.*1175A>G, XM_011509892.4:c.*1175A>G, XM_011509892.3:c.*1175A>G, XM_011509892.2:c.*1175A>G, XM_011509892.1:c.*1175A>G, XM_011509893.4:c.*1175A>G, XM_011509893.3:c.*1175A>G, XM_011509893.2:c.*1175A>G, XM_011509893.1:c.*1175A>G, XM_011509894.4:c.*1175A>G, XM_011509894.3:c.*1175A>G, XM_011509894.2:c.*1175A>G, XM_011509894.1:c.*1175A>G, XM_017002081.3:c.*1175A>G, XM_017002081.2:c.*1175A>G, XM_017002081.1:c.*1175A>G, XM_011509897.2:c.*1175A>G, XM_011509897.1:c.*1175A>G, XM_017002083.2:c.*1175A>G, XM_017002083.1:c.*1175A>G, XM_047427958.1:c.*1175A>G, XM_047427959.1:c.*1175A>G, XM_047427975.1:c.*1175A>G, XM_047427983.1:c.*1175A>G, XM_047427960.1:c.*1175A>G, XM_047427961.1:c.*1175A>G, XM_047427962.1:c.*1175A>G, XM_047427963.1:c.*1175A>G, XM_047427964.1:c.*1175A>G, XM_047427971.1:c.*1175A>G, XM_047427973.1:c.*1175A>G, XM_047427974.1:c.*1175A>G, XM_047427982.1:c.*1175A>G, XM_047427978.1:c.*1175A>G, XM_047427984.1:c.*1175A>G, XM_047427988.1:c.*1175A>G, XM_047427989.1:c.*1175A>G, XM_047427992.1:c.*1175A>G, XM_047427995.1:c.*1175A>G, XM_047427993.1:c.*1175A>G, XM_047427970.1:c.*1175A>G, XM_047427972.1:c.*1175A>G, XM_047427986.1:c.*1175A>G, XM_047427991.1:c.*1175A>G, XM_047427994.1:c.*1175A>G

Select item 148853383311.

rs1488533833 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:154961953 (GRCh38)
1:154934429 (GRCh37)
Canonical SPDI:: NC_000001.11:154961952:G:A,NC_000001.11:154961952:G:T
Gene:: SHC1 (Varview), PYGO2 (Varview), LOC101928120 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.154961953G>A, NC_000001.11:g.154961953G>T, NC_000001.10:g.154934429G>A, NC_000001.10:g.154934429G>T, NG_029028.1:g.17531C>T, NG_029028.1:g.17531C>A, NM_001321726.1:c.341G>A, NM_001321726.1:c.341G>T, NR_171036.1:n.416G>A, NR_171036.1:n.416G>T

Select item 148766898712.

rs1487668987 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:154959559 (GRCh38)
1:154932035 (GRCh37)
Canonical SPDI:: NC_000001.11:154959558:C:G
Gene:: PYGO2 (Varview), LOC101928120 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD_exomes)
G=0.000106/2 (TOMMO)
HGVS:: NC_000001.11:g.154959559C>G, NC_000001.10:g.154932035C>G, NM_138300.4:c.441G>C, NM_138300.3:c.441G>C, NP_612157.1:p.Met147Ile

Select item 148753352213.

rs1487533522 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:154961074 (GRCh38)
1:154933550 (GRCh37)
Canonical SPDI:: NC_000001.11:154961073:C:T
Gene:: PYGO2 (Varview), LOC101928120 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000396/6 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000043/6 (GnomAD)
T=0.001339/6 (Estonian)
HGVS:: NC_000001.11:g.154961074C>T, NC_000001.10:g.154933550C>T, NG_029028.1:g.18410G>A

Select item 148741506014.

rs1487415060 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:154960377 (GRCh38)
1:154932853 (GRCh37)
Canonical SPDI:: NC_000001.11:154960376:A:G
Gene:: PYGO2 (Varview), LOC101928120 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.154960377A>G, NC_000001.10:g.154932853A>G, NG_029028.1:g.19107T>C

Select item 148722100415.

rs1487221004 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:154962251 (GRCh38)
1:154934727 (GRCh37)
Canonical SPDI:: NC_000001.11:154962250:C:T
Gene:: SHC1 (Varview), PYGO2 (Varview), LOC101928120 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.154962251C>T, NC_000001.10:g.154934727C>T, NG_029028.1:g.17233G>A, NM_001321726.1:c.639C>T, NR_171036.1:n.714C>T

Select item 148489709216.

rs1484897092 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:154958178 (GRCh38)
1:154930654 (GRCh37)
Canonical SPDI:: NC_000001.11:154958177:C:T
Gene:: PYGO2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.154958178C>T, NC_000001.10:g.154930654C>T, NM_138300.4:c.*601G>A, NM_138300.3:c.*601G>A

Select item 148363385217.

rs1483633852 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:154959242 (GRCh38)
1:154931718 (GRCh37)
Canonical SPDI:: NC_000001.11:154959241:C:A
Gene:: PYGO2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.154959242C>A, NC_000001.10:g.154931718C>A, NM_138300.4:c.758G>T, NM_138300.3:c.758G>T, NP_612157.1:p.Gly253Val

Select item 148356099918.

rs1483560999 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:154961485 (GRCh38)
1:154933961 (GRCh37)
Canonical SPDI:: NC_000001.11:154961484:T:A,NC_000001.11:154961484:T:C
Gene:: PYGO2 (Varview), LOC101928120 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.154961485T>A, NC_000001.11:g.154961485T>C, NC_000001.10:g.154933961T>A, NC_000001.10:g.154933961T>C, NG_029028.1:g.17999A>T, NG_029028.1:g.17999A>G, NM_138300.4:c.92A>T, NM_138300.4:c.92A>G, NM_138300.3:c.92A>T, NM_138300.3:c.92A>G, NM_001321726.1:c.-128T>A, NM_001321726.1:c.-128T>C, NP_612157.1:p.Gln31Leu, NP_612157.1:p.Gln31Arg

Select item 148302722819.

rs1483027228 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:154959294 (GRCh38)
1:154931770 (GRCh37)
Canonical SPDI:: NC_000001.11:154959293:T:C
Gene:: PYGO2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.154959294T>C, NC_000001.10:g.154931770T>C, NM_138300.4:c.706A>G, NM_138300.3:c.706A>G, NP_612157.1:p.Ser236Gly

Select item 148159854020.

rs1481598540 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:154959379 (GRCh38)
1:154931855 (GRCh37)
Canonical SPDI:: NC_000001.11:154959378:G:A
Gene:: PYGO2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.154959379G>A, NC_000001.10:g.154931855G>A, NM_138300.4:c.621C>T, NM_138300.3:c.621C>T

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