SNP Links for Gene (Select 10811) - SNP

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Select item 14915803151.

rs1491580315 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAAA [Show Flanks]
Chromosome:: 9:137432280 (GRCh38)
9:140326733 (GRCh37)
Canonical SPDI:: NC_000009.12:137432280:AAA:AAATAAA
Gene:: NOXA1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AAATAAA=0./0 (ALFA)
HGVS:: NC_000009.12:g.137432283_137432284insTAAA, NC_000009.11:g.140326735_140326736insTAAA

Select item 14915301372.

rs1491530137 has merged into rs35916187 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:137432294 (GRCh38)
9:140326746 (GRCh37)
Canonical SPDI:: NC_000009.12:137432279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:137432279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:137432279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:137432279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:137432279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:137432279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:137432279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:137432279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:137432279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:137432279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:137432279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NOXA1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000009.12:g.137432294_137432298del, NC_000009.12:g.137432295_137432298del, NC_000009.12:g.137432296_137432298del, NC_000009.12:g.137432297_137432298del, NC_000009.12:g.137432298del, NC_000009.12:g.137432298dup, NC_000009.12:g.137432297_137432298dup, NC_000009.12:g.137432296_137432298dup, NC_000009.12:g.137432295_137432298dup, NC_000009.12:g.137432298_137432299insAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.137432298_137432299insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.140326746_140326750del, NC_000009.11:g.140326747_140326750del, NC_000009.11:g.140326748_140326750del, NC_000009.11:g.140326749_140326750del, NC_000009.11:g.140326750del, NC_000009.11:g.140326750dup, NC_000009.11:g.140326749_140326750dup, NC_000009.11:g.140326748_140326750dup, NC_000009.11:g.140326747_140326750dup, NC_000009.11:g.140326750_140326751insAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.140326750_140326751insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14915035603.

rs1491503560 has merged into rs35916187 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:137432294 (GRCh38)
9:140326746 (GRCh37)
Canonical SPDI:: NC_000009.12:137432279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:137432279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:137432279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:137432279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:137432279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:137432279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:137432279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:137432279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:137432279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:137432279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:137432279:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NOXA1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000009.12:g.137432294_137432298del, NC_000009.12:g.137432295_137432298del, NC_000009.12:g.137432296_137432298del, NC_000009.12:g.137432297_137432298del, NC_000009.12:g.137432298del, NC_000009.12:g.137432298dup, NC_000009.12:g.137432297_137432298dup, NC_000009.12:g.137432296_137432298dup, NC_000009.12:g.137432295_137432298dup, NC_000009.12:g.137432298_137432299insAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.137432298_137432299insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.140326746_140326750del, NC_000009.11:g.140326747_140326750del, NC_000009.11:g.140326748_140326750del, NC_000009.11:g.140326749_140326750del, NC_000009.11:g.140326750del, NC_000009.11:g.140326750dup, NC_000009.11:g.140326749_140326750dup, NC_000009.11:g.140326748_140326750dup, NC_000009.11:g.140326747_140326750dup, NC_000009.11:g.140326750_140326751insAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.140326750_140326751insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14915008294.

rs1491500829 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:137432279 (GRCh38)
9:140326731 (GRCh37)
Canonical SPDI:: NC_000009.12:137432278:CA:
Gene:: NOXA1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000009.12:g.137432279_137432280del, NC_000009.11:g.140326731_140326732del

Select item 14910693115.

rs1491069311 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 9:137433182 (GRCh38)
9:140327634 (GRCh37)
Canonical SPDI:: NC_000009.12:137433178:TGTGT:TGT
Gene:: NOXA1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.137433180GT[1], NC_000009.11:g.140327632GT[1]

Select item 14909619436.

rs1490961943 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:137423081 (GRCh38)
9:140317533 (GRCh37)
Canonical SPDI:: NC_000009.12:137423080:C:T
Gene:: NOXA1 (Varview), EXD3 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000009.12:g.137423081C>T, NC_000009.11:g.140317533C>T

Select item 14908884257.

rs1490888425 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:137428757 (GRCh38)
9:140323209 (GRCh37)
Canonical SPDI:: NC_000009.12:137428756:G:A
Gene:: NOXA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000009.12:g.137428757G>A, NC_000009.11:g.140323209G>A

Select item 14908644848.

rs1490864484 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:137428120 (GRCh38)
9:140322572 (GRCh37)
Canonical SPDI:: NC_000009.12:137428119:G:A,NC_000009.12:137428119:G:T
Gene:: NOXA1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
A=0.000071/1 (TOMMO)
HGVS:: NC_000009.12:g.137428120G>A, NC_000009.12:g.137428120G>T, NC_000009.11:g.140322572G>A, NC_000009.11:g.140322572G>T, XM_011518158.4:c.348G>A, XM_011518158.4:c.348G>T, XM_011518158.3:c.348G>A, XM_011518158.3:c.348G>T, XM_011518158.2:c.348G>A, XM_011518158.2:c.348G>T, XM_011518158.1:c.348G>A, XM_011518158.1:c.348G>T, NM_006647.2:c.348G>A, NM_006647.2:c.348G>T, NM_006647.1:c.348G>A, NM_006647.1:c.348G>T, NM_001256067.2:c.348G>A, NM_001256067.2:c.348G>T, NM_001256067.1:c.348G>A, NM_001256067.1:c.348G>T, NM_001256068.2:c.348G>A, NM_001256068.2:c.348G>T, NM_001256068.1:c.348G>A, NM_001256068.1:c.348G>T, XM_011518159.2:c.-97G>A, XM_011518159.2:c.-97G>T, XM_011518159.1:c.-97G>A, XM_011518159.1:c.-97G>T, XM_047422659.1:c.-273G>A, XM_047422659.1:c.-273G>T, XM_047422658.1:c.348G>A, XM_047422658.1:c.348G>T, XM_047422660.1:c.348G>A, XM_047422660.1:c.348G>T

Select item 14907590479.

rs1490759047 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:137422574 (GRCh38)
9:140317026 (GRCh37)
Canonical SPDI:: NC_000009.12:137422573:C:G,NC_000009.12:137422573:C:T
Gene:: NOXA1 (Varview), EXD3 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.137422574C>G, NC_000009.12:g.137422574C>T, NC_000009.11:g.140317026C>G, NC_000009.11:g.140317026C>T

Select item 149056484210.

rs1490564842 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:137421749 (GRCh38)
9:140316201 (GRCh37)
Canonical SPDI:: NC_000009.12:137421748:G:A
Gene:: NOXA1 (Varview), EXD3 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_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_000009.12:g.137421749G>A, NC_000009.11:g.140316201G>A

Select item 148998503211.

rs1489985032 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:137426447 (GRCh38)
9:140320899 (GRCh37)
Canonical SPDI:: NC_000009.12:137426446:C:T
Gene:: NOXA1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.137426447C>T, NC_000009.11:g.140320899C>T, XM_047422659.1:c.-1946C>T

Select item 148992584012.

rs1489925840 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:137426086 (GRCh38)
9:140320538 (GRCh37)
Canonical SPDI:: NC_000009.12:137426085:C:T
Gene:: NOXA1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_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_000009.12:g.137426086C>T, NC_000009.11:g.140320538C>T

Select item 148992208813.

rs1489922088 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:137431389 (GRCh38)
9:140325841 (GRCh37)
Canonical SPDI:: NC_000009.12:137431388:T:C
Gene:: NOXA1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.137431389T>C, NC_000009.11:g.140325841T>C

Select item 148987720314.

rs1489877203 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCT>- [Show Flanks]
Chromosome:: 9:137427378 (GRCh38)
9:140321830 (GRCh37)
Canonical SPDI:: NC_000009.12:137427375:CTTCT:CT
Gene:: NOXA1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CT=0./0 (ALFA)
HGVS:: NC_000009.12:g.137427378_137427380del, NC_000009.11:g.140321830_140321832del, XM_047422659.1:c.-1015_-1013del

Select item 148973113115.

rs1489731131 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:137427280 (GRCh38)
9:140321732 (GRCh37)
Canonical SPDI:: NC_000009.12:137427279:C:T
Gene:: NOXA1 (Varview)
Functional Consequence:: 5_prime_UTR_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_000009.12:g.137427280C>T, NC_000009.11:g.140321732C>T, XM_047422659.1:c.-1113C>T

Select item 148954541516.

rs1489545415 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:137433065 (GRCh38)
9:140327517 (GRCh37)
Canonical SPDI:: NC_000009.12:137433064:C:T
Gene:: NOXA1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.137433065C>T, NC_000009.11:g.140327517C>T, XM_011518158.4:c.733C>T, XM_011518158.3:c.733C>T, XM_011518158.2:c.733C>T, XM_011518158.1:c.733C>T, NM_006647.2:c.841C>T, NM_006647.1:c.841C>T, NM_001256067.2:c.841C>T, NM_001256067.1:c.841C>T, NM_001256068.2:c.673C>T, NM_001256068.1:c.673C>T, XM_011518159.2:c.397C>T, XM_011518159.1:c.397C>T, XM_047422659.1:c.397C>T, XM_047422658.1:c.733C>T, XP_011516460.1:p.Leu245Phe, NP_006638.1:p.Leu281Phe, NP_001242996.1:p.Leu281Phe, NP_001242997.1:p.Leu225Phe, XP_011516461.1:p.Leu133Phe, XP_047278615.1:p.Leu133Phe, XP_047278614.1:p.Leu245Phe

Select item 148884550617.

rs1488845506 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:137431656 (GRCh38)
9:140326108 (GRCh37)
Canonical SPDI:: NC_000009.12:137431655:C:T
Gene:: NOXA1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000009.12:g.137431656C>T, NC_000009.11:g.140326108C>T

Select item 148862851418.

rs1488628514 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:137428539 (GRCh38)
9:140322991 (GRCh37)
Canonical SPDI:: NC_000009.12:137428538:G:A
Gene:: NOXA1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.137428539G>A, NC_000009.11:g.140322991G>A, XM_047422659.1:c.-153G>A

Select item 148842942619.

rs1488429426 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:137423047 (GRCh38)
9:140317499 (GRCh37)
Canonical SPDI:: NC_000009.12:137423046:G:A,NC_000009.12:137423046:G:C
Gene:: NOXA1 (Varview), EXD3 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.137423047G>A, NC_000009.12:g.137423047G>C, NC_000009.11:g.140317499G>A, NC_000009.11:g.140317499G>C

Select item 148833748020.

rs1488337480 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:137422127 (GRCh38)
9:140316579 (GRCh37)
Canonical SPDI:: NC_000009.12:137422126:A:C
Gene:: NOXA1 (Varview), EXD3 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_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_000009.12:g.137422127A>C, NC_000009.11:g.140316579A>C

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