SNP Links for Gene (Select 101929290) - SNP

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Select item 14913734321.

rs1491373432 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:11326969 (GRCh38)
8:11184478 (GRCh37)
Canonical SPDI:: NC_000008.11:11326968:CA:
Gene:: MTMR9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00523/62 (ALFA)
-=0.00294/83 (TOMMO)
HGVS:: NC_000008.11:g.11326969_11326970del, NC_000008.10:g.11184478_11184479del, NW_018654717.1:g.2019875_2019876del, NM_015458.4:c.*4181_*4182del, NM_015458.3:c.*4181_*4182del, XM_011543831.3:c.*4181_*4182del, XM_011543831.2:c.*4181_*4182del, XM_011543831.1:c.*4181_*4182del

Select item 14912864822.

rs1491286482 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTTT [Show Flanks]
Chromosome:: 8:11328373 (GRCh38)
8:11185882 (GRCh37)
Canonical SPDI:: NC_000008.11:11328371:TTT:T,NC_000008.11:11328371:TTT:TTTTT
Gene:: MTMR9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.072332/858 (ALFA)
-=0.02693/451 (TOMMO)
-=0.048581/89 (Korea1K)
-=0.05/2 (GENOME_DK)
-=0.05/30 (NorthernSweden)
-=0.065935/9124 (GnomAD)
-=0.21588/832 (ALSPAC)
-=0.222492/825 (TWINSUK)
HGVS:: NC_000008.11:g.11328373_11328374del, NC_000008.11:g.11328373_11328374dup, NC_000008.10:g.11185882_11185883del, NC_000008.10:g.11185882_11185883dup, NW_018654717.1:g.2018472_2018473del, NW_018654717.1:g.2018472_2018473dup

Select item 14911604883.

rs1491160488 has merged into rs34820607 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:11326982 (GRCh38)
8:11184491 (GRCh37)
Canonical SPDI:: NC_000008.11:11326969:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:11326969:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:11326969:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:11326969:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:11326969:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:11326969:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:11326969:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:11326969:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:11326969:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:11326969:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:11326969:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MTMR9 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.2044/103 (NorthernSweden)
AA=0.4928/2468 (1000Genomes)
HGVS:: NC_000008.11:g.11326982_11326988del, NC_000008.11:g.11326983_11326988del, NC_000008.11:g.11326984_11326988del, NC_000008.11:g.11326985_11326988del, NC_000008.11:g.11326986_11326988del, NC_000008.11:g.11326987_11326988del, NC_000008.11:g.11326988del, NC_000008.11:g.11326988dup, NC_000008.11:g.11326987_11326988dup, NC_000008.11:g.11326986_11326988dup, NC_000008.11:g.11326984_11326988dup, NC_000008.10:g.11184491_11184497del, NC_000008.10:g.11184492_11184497del, NC_000008.10:g.11184493_11184497del, NC_000008.10:g.11184494_11184497del, NC_000008.10:g.11184495_11184497del, NC_000008.10:g.11184496_11184497del, NC_000008.10:g.11184497del, NC_000008.10:g.11184497dup, NC_000008.10:g.11184496_11184497dup, NC_000008.10:g.11184495_11184497dup, NC_000008.10:g.11184493_11184497dup, NW_018654717.1:g.2019869_2019875del, NW_018654717.1:g.2019870_2019875del, NW_018654717.1:g.2019871_2019875del, NW_018654717.1:g.2019872_2019875del, NW_018654717.1:g.2019873_2019875del, NW_018654717.1:g.2019874_2019875del, NW_018654717.1:g.2019875del, NW_018654717.1:g.2019875dup, NW_018654717.1:g.2019874_2019875dup, NW_018654717.1:g.2019873_2019875dup, NW_018654717.1:g.2019871_2019875dup, NM_015458.4:c.*4194_*4200del, NM_015458.4:c.*4195_*4200del, NM_015458.4:c.*4196_*4200del, NM_015458.4:c.*4197_*4200del, NM_015458.4:c.*4198_*4200del, NM_015458.4:c.*4199_*4200del, NM_015458.4:c.*4200del, NM_015458.4:c.*4200dup, NM_015458.4:c.*4199_*4200dup, NM_015458.4:c.*4198_*4200dup, NM_015458.4:c.*4196_*4200dup, NM_015458.3:c.*4194_*4200del, NM_015458.3:c.*4195_*4200del, NM_015458.3:c.*4196_*4200del, NM_015458.3:c.*4197_*4200del, NM_015458.3:c.*4198_*4200del, NM_015458.3:c.*4199_*4200del, NM_015458.3:c.*4200del, NM_015458.3:c.*4200dup, NM_015458.3:c.*4199_*4200dup, NM_015458.3:c.*4198_*4200dup, NM_015458.3:c.*4196_*4200dup, XM_011543831.3:c.*4194_*4200del, XM_011543831.3:c.*4195_*4200del, XM_011543831.3:c.*4196_*4200del, XM_011543831.3:c.*4197_*4200del, XM_011543831.3:c.*4198_*4200del, XM_011543831.3:c.*4199_*4200del, XM_011543831.3:c.*4200del, XM_011543831.3:c.*4200dup, XM_011543831.3:c.*4199_*4200dup, XM_011543831.3:c.*4198_*4200dup, XM_011543831.3:c.*4196_*4200dup, XM_011543831.2:c.*4194_*4200del, XM_011543831.2:c.*4195_*4200del, XM_011543831.2:c.*4196_*4200del, XM_011543831.2:c.*4197_*4200del, XM_011543831.2:c.*4198_*4200del, XM_011543831.2:c.*4199_*4200del, XM_011543831.2:c.*4200del, XM_011543831.2:c.*4200dup, XM_011543831.2:c.*4199_*4200dup, XM_011543831.2:c.*4198_*4200dup, XM_011543831.2:c.*4196_*4200dup, XM_011543831.1:c.*4194_*4200del, XM_011543831.1:c.*4195_*4200del, XM_011543831.1:c.*4196_*4200del, XM_011543831.1:c.*4197_*4200del, XM_011543831.1:c.*4198_*4200del, XM_011543831.1:c.*4199_*4200del, XM_011543831.1:c.*4200del, XM_011543831.1:c.*4200dup, XM_011543831.1:c.*4199_*4200dup, XM_011543831.1:c.*4198_*4200dup, XM_011543831.1:c.*4196_*4200dup

Select item 14908898714.

rs1490889871 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 8:11327350 (GRCh38)
8:11184859 (GRCh37)
Canonical SPDI:: NC_000008.11:11327349:A:C,NC_000008.11:11327349:A:G
Gene:: MTMR9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.11327350A>C, NC_000008.11:g.11327350A>G, NC_000008.10:g.11184859A>C, NC_000008.10:g.11184859A>G, NW_018654717.1:g.2019495T>G, NW_018654717.1:g.2019495T>C, NM_015458.4:c.*4562A>C, NM_015458.4:c.*4562A>G, NM_015458.3:c.*4562A>C, NM_015458.3:c.*4562A>G, XM_011543831.3:c.*4562A>C, XM_011543831.3:c.*4562A>G, XM_011543831.2:c.*4562A>C, XM_011543831.2:c.*4562A>G, XM_011543831.1:c.*4562A>C, XM_011543831.1:c.*4562A>G

Select item 14906451395.

rs1490645139 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:11329736 (GRCh38)
8:11187245 (GRCh37)
Canonical SPDI:: NC_000008.11:11329735:C:A,NC_000008.11:11329735:C:T
Gene:: MTMR9 (Varview), SLC35G5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.11329736C>A, NC_000008.11:g.11329736C>T, NC_000008.10:g.11187245C>A, NC_000008.10:g.11187245C>T, NW_018654717.1:g.2017109G>T, NW_018654717.1:g.2017109G>A

Select item 14906145326.

rs1490614532 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:11328398 (GRCh38)
8:11185907 (GRCh37)
Canonical SPDI:: NC_000008.11:11328397:C:G,NC_000008.11:11328397:C:T
Gene:: MTMR9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.11328398C>G, NC_000008.11:g.11328398C>T, NC_000008.10:g.11185907C>G, NC_000008.10:g.11185907C>T, NW_018654717.1:g.2018447G>C, NW_018654717.1:g.2018447G>A

Select item 14904769107.

rs1490476910 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:11321999 (GRCh38)
8:11179508 (GRCh37)
Canonical SPDI:: NC_000008.11:11321998:G:A
Gene:: MTMR9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_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_000008.11:g.11321999G>A, NC_000008.10:g.11179508G>A, NW_018654717.1:g.2024849C>T

Select item 14903160948.

rs1490316094 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:11330347 (GRCh38)
8:11187856 (GRCh37)
Canonical SPDI:: NC_000008.11:11330346:G:A,NC_000008.11:11330346:G:C
Gene:: MTMR9 (Varview), SLC35G5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000064/9 (GnomAD)
HGVS:: NC_000008.11:g.11330347G>A, NC_000008.11:g.11330347G>C, NC_000008.10:g.11187856G>A, NC_000008.10:g.11187856G>C, NW_018654717.1:g.2016498C>T, NW_018654717.1:g.2016498C>G

Select item 14896358099.

rs1489635809 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:11323152 (GRCh38)
8:11180661 (GRCh37)
Canonical SPDI:: NC_000008.11:11323151:C:G
Gene:: MTMR9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.11323152C>G, NC_000008.10:g.11180661C>G, NW_018654717.1:g.2023696G>C, NM_015458.4:c.*364C>G, NM_015458.3:c.*364C>G, XM_011543831.3:c.*364C>G, XM_011543831.2:c.*364C>G, XM_011543831.1:c.*364C>G

Select item 148926060810.

rs1489260608 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:11323960 (GRCh38)
8:11181469 (GRCh37)
Canonical SPDI:: NC_000008.11:11323959:C:G
Gene:: MTMR9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.11323960C>G, NC_000008.10:g.11181469C>G, NW_018654717.1:g.2022888G>C, NM_015458.4:c.*1172C>G, NM_015458.3:c.*1172C>G, XM_011543831.3:c.*1172C>G, XM_011543831.2:c.*1172C>G, XM_011543831.1:c.*1172C>G

Select item 148920382211.

rs1489203822 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:11330842 (GRCh38)
8:11188351 (GRCh37)
Canonical SPDI:: NC_000008.11:11330841:G:A
Gene:: MTMR9 (Varview), SLC35G5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.11330842G>A, NC_000008.10:g.11188351G>A, NW_018654717.1:g.2016003C>T

Select item 148891488712.

rs1488914887 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:11322777 (GRCh38)
8:11180286 (GRCh37)
Canonical SPDI:: NC_000008.11:11322776:G:A,NC_000008.11:11322776:G:C
Gene:: MTMR9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.11322777G>A, NC_000008.11:g.11322777G>C, NC_000008.10:g.11180286G>A, NC_000008.10:g.11180286G>C, NW_018654717.1:g.2024071C>T, NW_018654717.1:g.2024071C>G, NM_015458.4:c.1639G>A, NM_015458.4:c.1639G>C, NM_015458.3:c.1639G>A, NM_015458.3:c.1639G>C, XM_011543831.3:c.1051G>A, XM_011543831.3:c.1051G>C, XM_011543831.2:c.1051G>A, XM_011543831.2:c.1051G>C, XM_011543831.1:c.1051G>A, XM_011543831.1:c.1051G>C, NP_056273.2:p.Glu547Lys, NP_056273.2:p.Glu547Gln, XP_011542133.1:p.Glu351Lys, XP_011542133.1:p.Glu351Gln

Select item 148887867913.

rs1488878679 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:11323588 (GRCh38)
8:11181097 (GRCh37)
Canonical SPDI:: NC_000008.11:11323587:A:C
Gene:: MTMR9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.11323588A>C, NC_000008.10:g.11181097A>C, NW_018654717.1:g.2023260T>G, NM_015458.4:c.*800A>C, NM_015458.3:c.*800A>C, XM_011543831.3:c.*800A>C, XM_011543831.2:c.*800A>C, XM_011543831.1:c.*800A>C

Select item 148867194814.

rs1488671948 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:11321294 (GRCh38)
8:11178803 (GRCh37)
Canonical SPDI:: NC_000008.11:11321293:G:A
Gene:: MTMR9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.00003/8 (TOPMED)
A=0.000071/1 (TOMMO)
HGVS:: NC_000008.11:g.11321294G>A, NC_000008.10:g.11178803G>A, NW_018654717.1:g.2025554C>T

Select item 148863663815.

rs1488636638 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:11320527 (GRCh38)
8:11178036 (GRCh37)
Canonical SPDI:: NC_000008.11:11320526:A:G
Gene:: MTMR9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.11320527A>G, NC_000008.10:g.11178036A>G, NW_018654717.1:g.2026321T>C

Select item 148861595216.

rs1488615952 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:11326777 (GRCh38)
8:11184286 (GRCh37)
Canonical SPDI:: NC_000008.11:11326776:T:C
Gene:: MTMR9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000008.11:g.11326777T>C, NC_000008.10:g.11184286T>C, NW_018654717.1:g.2020068A>G, NM_015458.4:c.*3989T>C, NM_015458.3:c.*3989T>C, XM_011543831.3:c.*3989T>C, XM_011543831.2:c.*3989T>C, XM_011543831.1:c.*3989T>C

Select item 148854345517.

rs1488543455 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:11325060 (GRCh38)
8:11182569 (GRCh37)
Canonical SPDI:: NC_000008.11:11325059:T:C
Gene:: MTMR9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.11325060T>C, NC_000008.10:g.11182569T>C, NW_018654717.1:g.2021788A>G, NM_015458.4:c.*2272T>C, NM_015458.3:c.*2272T>C, XM_011543831.3:c.*2272T>C, XM_011543831.2:c.*2272T>C, XM_011543831.1:c.*2272T>C

Select item 148853769018.

rs1488537690 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:11329201 (GRCh38)
8:11186710 (GRCh37)
Canonical SPDI:: NC_000008.11:11329200:A:G
Gene:: MTMR9 (Varview), SLC35G5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_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_000008.11:g.11329201A>G, NC_000008.10:g.11186710A>G, NW_018654717.1:g.2017644T>C

Select item 148840558619.

rs1488405586 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:11322399 (GRCh38)
8:11179908 (GRCh37)
Canonical SPDI:: NC_000008.11:11322398:G:A,NC_000008.11:11322398:G:T
Gene:: MTMR9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.11322399G>A, NC_000008.11:g.11322399G>T, NC_000008.10:g.11179908G>A, NC_000008.10:g.11179908G>T, NW_018654717.1:g.2024449C>T, NW_018654717.1:g.2024449C>A

Select item 148802096920.

rs1488020969 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:11321707 (GRCh38)
8:11179216 (GRCh37)
Canonical SPDI:: NC_000008.11:11321706:A:G
Gene:: MTMR9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.11321707A>G, NC_000008.10:g.11179216A>G, NW_018654717.1:g.2025141T>C

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