SNP Links for Gene (Select 10407) - SNP

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Select item 14914108281.

rs1491410828 has merged into rs1332122490 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:7454090 (GRCh38)
8:7311612 (GRCh37)
Canonical SPDI:: NC_000008.11:7454082:AAAAAAAAAAAAAAAAA:AAAAAAA,NC_000008.11:7454082:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:7454082:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:7454082:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:7454082:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:7454082:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:7454082:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:7454082:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:7454082:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: SPAG11B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.7454090_7454099del, NC_000008.11:g.7454094_7454099del, NC_000008.11:g.7454096_7454099del, NC_000008.11:g.7454097_7454099del, NC_000008.11:g.7454098_7454099del, NC_000008.11:g.7454099del, NC_000008.11:g.7454099dup, NC_000008.11:g.7454098_7454099dup, NC_000008.11:g.7454097_7454099dup, NC_000008.10:g.7311612_7311621del, NC_000008.10:g.7311616_7311621del, NC_000008.10:g.7311618_7311621del, NC_000008.10:g.7311619_7311621del, NC_000008.10:g.7311620_7311621del, NC_000008.10:g.7311621del, NC_000008.10:g.7311621dup, NC_000008.10:g.7311620_7311621dup, NC_000008.10:g.7311619_7311621dup, NG_029571.1:g.14579_14588del, NG_029571.1:g.14583_14588del, NG_029571.1:g.14585_14588del, NG_029571.1:g.14586_14588del, NG_029571.1:g.14587_14588del, NG_029571.1:g.14588del, NG_029571.1:g.14588dup, NG_029571.1:g.14587_14588dup, NG_029571.1:g.14586_14588dup, NT_187570.1:g.137185_137186inv, NT_187570.1:g.137185_137194del, NT_187570.1:g.137185_137190del, NT_187570.1:g.137185_137188del, NT_187570.1:g.137185_137187del, NT_187570.1:g.137185_137186del, NT_187570.1:g.137185_137186delinsA, NT_187570.1:g.137185_137186delinsAAA, NT_187570.1:g.137185_137186delinsAAAA, NT_187570.1:g.137185_137186delinsAAAAA, NW_018654717.1:g.5454749_5454758del, NW_018654717.1:g.5454753_5454758del, NW_018654717.1:g.5454755_5454758del, NW_018654717.1:g.5454756_5454758del, NW_018654717.1:g.5454757_5454758del, NW_018654717.1:g.5454758del, NW_018654717.1:g.5454758dup, NW_018654717.1:g.5454757_5454758dup, NW_018654717.1:g.5454756_5454758dup

Select item 14913739952.

rs1491373995 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTA,TTAA [Show Flanks]
Chromosome:: 8:7454082 (GRCh38)
8:7311605 (GRCh37)
Canonical SPDI:: NC_000008.11:7454082:A:ATTA,NC_000008.11:7454082:A:ATTAA
Gene:: SPAG11B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATTAA=0./0 (ALFA)
ATT=0.00695/109 (TOMMO)
HGVS:: NC_000008.11:g.7454083_7454084insTTA, NC_000008.11:g.7454083_7454084insTTAA, NC_000008.10:g.7311605_7311606insTTA, NC_000008.10:g.7311605_7311606insTTAA, NG_029571.1:g.14588_14589insAAT, NG_029571.1:g.14588_14589insTAAT, NT_187570.1:g.137185_137187dup, NT_187570.1:g.137185_137188dup, NW_018654717.1:g.5454758_5454759insAAT, NW_018654717.1:g.5454758_5454759insTAAT

Select item 14913714483.

rs1491371448 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:7454082 (GRCh38)
8:7311604 (GRCh37)
Canonical SPDI:: NC_000008.11:7454081:CA:
Gene:: SPAG11B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00118/14 (ALFA)
HGVS:: NC_000008.11:g.7454082_7454083del, NC_000008.10:g.7311604_7311605del, NG_029571.1:g.14588_14589del, NT_187570.1:g.137183_137184del, NW_018654717.1:g.5454758_5454759del

Select item 14909921644.

rs1490992164 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:7455741 (GRCh38)
8:7313263 (GRCh37)
Canonical SPDI:: NC_000008.11:7455740:A:C
Gene:: SPAG11B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.7455741A>C, NC_000008.10:g.7313263A>C, NG_029571.1:g.12930T>G, NT_187570.1:g.138841A>C, NW_018654717.1:g.5453101T>G

Select item 14909119585.

rs1490911958 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:7464936 (GRCh38)
8:7322458 (GRCh37)
Canonical SPDI:: NC_000008.11:7464935:T:C
Gene:: SPAG11B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.0001/1 (GnomAD)
HGVS:: NC_000008.11:g.7464936T>C, NC_000008.10:g.7322458T>C, NG_029571.1:g.3735A>G, NT_187570.1:g.148046T>C, NW_018654717.1:g.5443907A>G

Select item 14909068756.

rs1490906875 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:7450701 (GRCh38)
8:7308223 (GRCh37)
Canonical SPDI:: NC_000008.11:7450700:G:A
Gene:: SPAG11B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000008.11:g.7450701G>A, NC_000008.10:g.7308223G>A, NG_029571.1:g.17970C>T, NM_058206.4:c.*178C>T, NM_058206.5:c.*178C>T, NM_058206.3:c.*178C>T, NM_016512.3:c.*178C>T, NM_016512.5:c.*178C>T, NM_016512.4:c.*178C>T, NM_058207.3:c.*12C>T, NM_058207.4:c.*12C>T, NM_058207.2:c.*12C>T, NM_058201.2:c.*12C>T, NM_058201.4:c.*12C>T, NM_058201.3:c.*12C>T, NT_187570.1:g.133802G>A, NW_018654717.1:g.5458141C>T

Select item 14907739307.

rs1490773930 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:7452252 (GRCh38)
8:7309774 (GRCh37)
Canonical SPDI:: NC_000008.11:7452251:C:T
Gene:: SPAG11B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00006/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.7452252C>T, NC_000008.10:g.7309774C>T, NG_029571.1:g.16419G>A, NT_187570.1:g.135355C>T, NW_018654717.1:g.5456589G>A

Select item 14906729338.

rs1490672933 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:7457258 (GRCh38)
8:7314780 (GRCh37)
Canonical SPDI:: NC_000008.11:7457257:A:G
Gene:: SPAG11B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000084/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000156/1 (1000Genomes)
G=0.001735/5 (KOREAN)
G=0.001842/31 (TOMMO)
HGVS:: NC_000008.11:g.7457258A>G, NC_000008.10:g.7314780A>G, NG_029571.1:g.11413T>C, NT_187570.1:g.140359A>G, NW_018654717.1:g.5451584T>C

Select item 14906401999.

rs1490640199 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:7455988 (GRCh38)
8:7313510 (GRCh37)
Canonical SPDI:: NC_000008.11:7455987:A:G
Gene:: SPAG11B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.7455988A>G, NC_000008.10:g.7313510A>G, NG_029571.1:g.12683T>C, NT_187570.1:g.139089A>G, NW_018654717.1:g.5452854T>C

Select item 149046318310.

rs1490463183 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 8:7458687 (GRCh38)
8:7316210 (GRCh37)
Canonical SPDI:: NC_000008.11:7458687::T
Gene:: SPAG11B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00076/9 (ALFA)
HGVS:: NC_000008.11:g.7458687_7458688insT, NC_000008.10:g.7316209_7316210insT, NG_029571.1:g.9983_9984insA, NT_187570.1:g.141787_141788insT, NW_018654717.1:g.5450154_5450155insA

Select item 149041205211.

rs1490412052 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:7461888 (GRCh38)
8:7319410 (GRCh37)
Canonical SPDI:: NC_000008.11:7461887:G:A
Gene:: SPAG11B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00548/65 (ALFA)
A=0.00108/10 (TOMMO)
HGVS:: NC_000008.11:g.7461888G>A, NC_000008.10:g.7319410G>A, NG_029571.1:g.6783C>T, NT_187570.1:g.144998G>A, NW_018654717.1:g.5446955C>T

Select item 149040219912.

rs1490402199 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:7465546 (GRCh38)
8:7323068 (GRCh37)
Canonical SPDI:: NC_000008.11:7465545:C:G
Validated:: by frequency,by alfa
MAF:: G=0.00025/3 (ALFA)
G=0.00025/5 (GnomAD)
HGVS:: NC_000008.11:g.7465546C>G, NC_000008.10:g.7323068C>G, NG_029571.1:g.3125G>C, NT_187570.1:g.148656C>G, NW_018654717.1:g.5443297G>C

Select item 149036713713.

rs1490367137 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 8:7450255 (GRCh38)
8:7307777 (GRCh37)
Canonical SPDI:: NC_000008.11:7450254:A:C,NC_000008.11:7450254:A:G
Gene:: SPAG11B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.000008/1 (GnomAD)
HGVS:: NC_000008.11:g.7450255A>C, NC_000008.11:g.7450255A>G, NC_000008.10:g.7307777A>C, NC_000008.10:g.7307777A>G, NG_029571.1:g.18416T>G, NG_029571.1:g.18416T>C, NT_187570.1:g.133356A>C, NT_187570.1:g.133356A>G, NW_018654717.1:g.5458587T>G, NW_018654717.1:g.5458587T>C

Select item 149032664414.

rs1490326644 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 8:7455412 (GRCh38)
8:7312935 (GRCh37)
Canonical SPDI:: NC_000008.11:7455412:T:TT
Gene:: SPAG11B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000008.11:g.7455413dup, NC_000008.10:g.7312935dup, NG_029571.1:g.13258dup, NT_187570.1:g.138513dup, NW_018654717.1:g.5453429dup

Select item 149025787215.

rs1490257872 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:7451783 (GRCh38)
8:7309305 (GRCh37)
Canonical SPDI:: NC_000008.11:7451782:C:T
Gene:: SPAG11B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.7451783C>T, NC_000008.10:g.7309305C>T, NG_029571.1:g.16888G>A, NT_187570.1:g.134886C>T, NW_018654717.1:g.5457058G>A

Select item 149009363416.

rs1490093634 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:7463075 (GRCh38)
8:7320597 (GRCh37)
Canonical SPDI:: NC_000008.11:7463074:G:A
Gene:: SPAG11B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.7463075G>A, NC_000008.10:g.7320597G>A, NG_029571.1:g.5596C>T, NT_187570.1:g.146185G>A, NW_018654717.1:g.5445768C>T

Select item 149005869117.

rs1490058691 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:7462510 (GRCh38)
8:7320032 (GRCh37)
Canonical SPDI:: NC_000008.11:7462509:A:G
Gene:: SPAG11B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.7462510A>G, NC_000008.10:g.7320032A>G, NG_029571.1:g.6161T>C, NT_187570.1:g.145620A>G, NW_018654717.1:g.5446333T>C

Select item 148997282518.

rs1489972825 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 8:7459318 (GRCh38)
8:7316840 (GRCh37)
Canonical SPDI:: NC_000008.11:7459317:AA:A
Gene:: SPAG11B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.0312/509 (ALFA)
-=0.10829/1742 (TOMMO)
-=0.1556/225 (Korea1K)
HGVS:: NC_000008.11:g.7459319del, NC_000008.10:g.7316841del, NG_029571.1:g.9353del, NT_187570.1:g.142429del, NW_018654717.1:g.5449525del

Select item 148995704719.

rs1489957047 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:7459158 (GRCh38)
8:7316680 (GRCh37)
Canonical SPDI:: NC_000008.11:7459157:T:G
Gene:: SPAG11B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.00067/8 (ALFA)
G=0.00156/10 (1000Genomes)
HGVS:: NC_000008.11:g.7459158T>G, NC_000008.10:g.7316680T>G, NG_029571.1:g.9513A>C, NT_187570.1:g.142269T>G, NW_018654717.1:g.5449684A>C

Select item 148993462920.

rs1489934629 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:7454652 (GRCh38)
8:7312174 (GRCh37)
Canonical SPDI:: NC_000008.11:7454651:G:C
Gene:: SPAG11B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.7454652G>C, NC_000008.10:g.7312174G>C, NG_029571.1:g.14019C>G, NT_187570.1:g.137752G>C, NW_018654717.1:g.5454190C>G

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