SNP Links for Gene (Select 101929512) - SNP

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Select item 14915419371.

rs1491541937 [Homo sapiens]

Variant type:: INS
Alleles:: ->CACAC,CACACAC [Show Flanks]
Chromosome:: 2:161237076 (GRCh38)
2:162093588 (GRCh37)
Canonical SPDI:: NC_000002.12:161237076::CACAC,NC_000002.12:161237076::CACACAC
Gene:: PSMD14-DT (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000002.12:g.161237076_161237077insCACAC, NC_000002.12:g.161237076_161237077insCACACAC, NC_000002.11:g.162093587_162093588insCACAC, NC_000002.11:g.162093587_162093588insCACACAC

Select item 14912710082.

rs1491271008 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAAA [Show Flanks]
Chromosome:: 2:161237078 (GRCh38)
2:162093589 (GRCh37)
Canonical SPDI:: NC_000002.12:161237075:AAAA:AA,NC_000002.12:161237075:AAAA:AAAAAA
Gene:: PSMD14-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0.00017/2 (ALFA)
-=0.00007/2 (TOMMO)
-=0.00031/27 (GnomAD)
HGVS:: NC_000002.12:g.161237078_161237079del, NC_000002.12:g.161237078_161237079dup, NC_000002.11:g.162093589_162093590del, NC_000002.11:g.162093589_162093590dup

Select item 14910579843.

rs1491057984 has merged into rs371350821 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:161236221 (GRCh38)
2:162092732 (GRCh37)
Canonical SPDI:: NC_000002.12:161236211:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:161236211:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:161236211:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:161236211:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:161236211:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:161236211:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:161236211:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:161236211:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:161236211:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:161236211:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:161236211:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:161236211:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:161236211:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:161236211:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TANK (Varview), PSMD14-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.16693/836 (1000Genomes)
HGVS:: NC_000002.12:g.161236221_161236230del, NC_000002.12:g.161236223_161236230del, NC_000002.12:g.161236224_161236230del, NC_000002.12:g.161236225_161236230del, NC_000002.12:g.161236226_161236230del, NC_000002.12:g.161236227_161236230del, NC_000002.12:g.161236228_161236230del, NC_000002.12:g.161236229_161236230del, NC_000002.12:g.161236230del, NC_000002.12:g.161236230dup, NC_000002.12:g.161236229_161236230dup, NC_000002.12:g.161236228_161236230dup, NC_000002.12:g.161236227_161236230dup, NC_000002.12:g.161236226_161236230dup, NC_000002.11:g.162092732_162092741del, NC_000002.11:g.162092734_162092741del, NC_000002.11:g.162092735_162092741del, NC_000002.11:g.162092736_162092741del, NC_000002.11:g.162092737_162092741del, NC_000002.11:g.162092738_162092741del, NC_000002.11:g.162092739_162092741del, NC_000002.11:g.162092740_162092741del, NC_000002.11:g.162092741del, NC_000002.11:g.162092741dup, NC_000002.11:g.162092740_162092741dup, NC_000002.11:g.162092739_162092741dup, NC_000002.11:g.162092738_162092741dup, NC_000002.11:g.162092737_162092741dup, XM_005246207.4:c.*703_*712del, XM_005246207.4:c.*705_*712del, XM_005246207.4:c.*706_*712del, XM_005246207.4:c.*707_*712del, XM_005246207.4:c.*708_*712del, XM_005246207.4:c.*709_*712del, XM_005246207.4:c.*710_*712del, XM_005246207.4:c.*711_*712del, XM_005246207.4:c.*712del, XM_005246207.4:c.*712dup, XM_005246207.4:c.*711_*712dup, XM_005246207.4:c.*710_*712dup, XM_005246207.4:c.*709_*712dup, XM_005246207.4:c.*708_*712dup, NM_004180.3:c.*703_*712del, NM_004180.3:c.*705_*712del, NM_004180.3:c.*706_*712del, NM_004180.3:c.*707_*712del, NM_004180.3:c.*708_*712del, NM_004180.3:c.*709_*712del, NM_004180.3:c.*710_*712del, NM_004180.3:c.*711_*712del, NM_004180.3:c.*712del, NM_004180.3:c.*712dup, NM_004180.3:c.*711_*712dup, NM_004180.3:c.*710_*712dup, NM_004180.3:c.*709_*712dup, NM_004180.3:c.*708_*712dup, NM_001199135.3:c.*703_*712del, NM_001199135.3:c.*705_*712del, NM_001199135.3:c.*706_*712del, NM_001199135.3:c.*707_*712del, NM_001199135.3:c.*708_*712del, NM_001199135.3:c.*709_*712del, NM_001199135.3:c.*710_*712del, NM_001199135.3:c.*711_*712del, NM_001199135.3:c.*712del, NM_001199135.3:c.*712dup, NM_001199135.3:c.*711_*712dup, NM_001199135.3:c.*710_*712dup, NM_001199135.3:c.*709_*712dup, NM_001199135.3:c.*708_*712dup, XM_024452335.2:c.*703_*712del, XM_024452335.2:c.*705_*712del, XM_024452335.2:c.*706_*712del, XM_024452335.2:c.*707_*712del, XM_024452335.2:c.*708_*712del, XM_024452335.2:c.*709_*712del, XM_024452335.2:c.*710_*712del, XM_024452335.2:c.*711_*712del, XM_024452335.2:c.*712del, XM_024452335.2:c.*712dup, XM_024452335.2:c.*711_*712dup, XM_024452335.2:c.*710_*712dup, XM_024452335.2:c.*709_*712dup, XM_024452335.2:c.*708_*712dup, XM_047441814.1:c.*703_*712del, XM_047441814.1:c.*705_*712del, XM_047441814.1:c.*706_*712del, XM_047441814.1:c.*707_*712del, XM_047441814.1:c.*708_*712del, XM_047441814.1:c.*709_*712del, XM_047441814.1:c.*710_*712del, XM_047441814.1:c.*711_*712del, XM_047441814.1:c.*712del, XM_047441814.1:c.*712dup, XM_047441814.1:c.*711_*712dup, XM_047441814.1:c.*710_*712dup, XM_047441814.1:c.*709_*712dup, XM_047441814.1:c.*708_*712dup, XM_047441812.1:c.*703_*712del, XM_047441812.1:c.*705_*712del, XM_047441812.1:c.*706_*712del, XM_047441812.1:c.*707_*712del, XM_047441812.1:c.*708_*712del, XM_047441812.1:c.*709_*712del, XM_047441812.1:c.*710_*712del, XM_047441812.1:c.*711_*712del, XM_047441812.1:c.*712del, XM_047441812.1:c.*712dup, XM_047441812.1:c.*711_*712dup, XM_047441812.1:c.*710_*712dup, XM_047441812.1:c.*709_*712dup, XM_047441812.1:c.*708_*712dup, XM_047441806.1:c.*703_*712del, XM_047441806.1:c.*705_*712del, XM_047441806.1:c.*706_*712del, XM_047441806.1:c.*707_*712del, XM_047441806.1:c.*708_*712del, XM_047441806.1:c.*709_*712del, XM_047441806.1:c.*710_*712del, XM_047441806.1:c.*711_*712del, XM_047441806.1:c.*712del, XM_047441806.1:c.*712dup, XM_047441806.1:c.*711_*712dup, XM_047441806.1:c.*710_*712dup, XM_047441806.1:c.*709_*712dup, XM_047441806.1:c.*708_*712dup, XM_047441804.1:c.*703_*712del, XM_047441804.1:c.*705_*712del, XM_047441804.1:c.*706_*712del, XM_047441804.1:c.*707_*712del, XM_047441804.1:c.*708_*712del, XM_047441804.1:c.*709_*712del, XM_047441804.1:c.*710_*712del, XM_047441804.1:c.*711_*712del, XM_047441804.1:c.*712del, XM_047441804.1:c.*712dup, XM_047441804.1:c.*711_*712dup, XM_047441804.1:c.*710_*712dup, XM_047441804.1:c.*709_*712dup, XM_047441804.1:c.*708_*712dup, XM_047441805.1:c.*703_*712del, XM_047441805.1:c.*705_*712del, XM_047441805.1:c.*706_*712del, XM_047441805.1:c.*707_*712del, XM_047441805.1:c.*708_*712del, XM_047441805.1:c.*709_*712del, XM_047441805.1:c.*710_*712del, XM_047441805.1:c.*711_*712del, XM_047441805.1:c.*712del, XM_047441805.1:c.*712dup, XM_047441805.1:c.*711_*712dup, XM_047441805.1:c.*710_*712dup, XM_047441805.1:c.*709_*712dup, XM_047441805.1:c.*708_*712dup, XM_047441820.1:c.*703_*712del, XM_047441820.1:c.*705_*712del, XM_047441820.1:c.*706_*712del, XM_047441820.1:c.*707_*712del, XM_047441820.1:c.*708_*712del, XM_047441820.1:c.*709_*712del, XM_047441820.1:c.*710_*712del, XM_047441820.1:c.*711_*712del, XM_047441820.1:c.*712del, XM_047441820.1:c.*712dup, XM_047441820.1:c.*711_*712dup, XM_047441820.1:c.*710_*712dup, XM_047441820.1:c.*709_*712dup, XM_047441820.1:c.*708_*712dup, XM_047441809.1:c.*703_*712del, XM_047441809.1:c.*705_*712del, XM_047441809.1:c.*706_*712del, XM_047441809.1:c.*707_*712del, XM_047441809.1:c.*708_*712del, XM_047441809.1:c.*709_*712del, XM_047441809.1:c.*710_*712del, XM_047441809.1:c.*711_*712del, XM_047441809.1:c.*712del, XM_047441809.1:c.*712dup, XM_047441809.1:c.*711_*712dup, XM_047441809.1:c.*710_*712dup, XM_047441809.1:c.*709_*712dup, XM_047441809.1:c.*708_*712dup, XM_047441821.1:c.*703_*712del, XM_047441821.1:c.*705_*712del, XM_047441821.1:c.*706_*712del, XM_047441821.1:c.*707_*712del, XM_047441821.1:c.*708_*712del, XM_047441821.1:c.*709_*712del, XM_047441821.1:c.*710_*712del, XM_047441821.1:c.*711_*712del, XM_047441821.1:c.*712del, XM_047441821.1:c.*712dup, XM_047441821.1:c.*711_*712dup, XM_047441821.1:c.*710_*712dup, XM_047441821.1:c.*709_*712dup, XM_047441821.1:c.*708_*712dup

Select item 14909014024.

rs1490901402 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:161247872 (GRCh38)
2:162104383 (GRCh37)
Canonical SPDI:: NC_000002.12:161247871:C:T
Gene:: LINC01806 (Varview), PSMD14-DT (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.161247872C>T, NC_000002.11:g.162104383C>T, NR_110163.1:n.1199C>T, NR_110164.1:n.1155C>T

Select item 14908968385.

rs1490896838 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTC>- [Show Flanks]
Chromosome:: 2:161232008 (GRCh38)
2:162088519 (GRCh37)
Canonical SPDI:: NC_000002.12:161232005:TCTTTC:TC
Gene:: TANK (Varview), PSMD14-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TC=0./0 (ALFA)
-=0.000042/11 (TOPMED)
-=0.000064/9 (GnomAD)
HGVS:: NC_000002.12:g.161232008_161232011del, NC_000002.11:g.162088519_162088522del

Select item 14908211316.

rs1490821131 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:161245275 (GRCh38)
2:162101786 (GRCh37)
Canonical SPDI:: NC_000002.12:161245274:G:A
Gene:: LINC01806 (Varview), PSMD14-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.161245275G>A, NC_000002.11:g.162101786G>A

Select item 14906140187.

rs1490614018 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAAACAACCATGAGGTCTTTTTCTTTTGTCA [Show Flanks]
Chromosome:: 2:161226931 (GRCh38)
2:162083443 (GRCh37)
Canonical SPDI:: NC_000002.12:161226931:A:ATAAACAACCATGAGGTCTTTTTCTTTTGTCA
Gene:: TANK (Varview), PSMD14-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAAACAACCATGAGGTCTTTTTCTTTTGTCA=0.00022/1 (ALFA)
ATAAACAACCATGAGGTCTTTTTCTTTTGTC=0.00008/2 (TOMMO)
ATAAACAACCATGAGGTCTTTTTCTTTTGTC=0.00022/1 (Estonian)
HGVS:: NC_000002.12:g.161226932_161226933insTAAACAACCATGAGGTCTTTTTCTTTTGTCA, NC_000002.11:g.162083443_162083444insTAAACAACCATGAGGTCTTTTTCTTTTGTCA

Select item 14904108098.

rs1490410809 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:161246398 (GRCh38)
2:162102909 (GRCh37)
Canonical SPDI:: NC_000002.12:161246397:C:T
Gene:: LINC01806 (Varview), PSMD14-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.161246398C>T, NC_000002.11:g.162102909C>T

Select item 14902734119.

rs1490273411 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:161234957 (GRCh38)
2:162091468 (GRCh37)
Canonical SPDI:: NC_000002.12:161234956:C:A,NC_000002.12:161234956:C:T
Gene:: TANK (Varview), PSMD14-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.161234957C>A, NC_000002.12:g.161234957C>T, NC_000002.11:g.162091468C>A, NC_000002.11:g.162091468C>T

Select item 149001447710.

rs1490014477 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:161231517 (GRCh38)
2:162088028 (GRCh37)
Canonical SPDI:: NC_000002.12:161231516:A:T
Gene:: TANK (Varview), PSMD14-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.161231517A>T, NC_000002.11:g.162088028A>T, XM_005246207.4:c.1388A>T, XM_005246207.3:c.1145A>T, XM_005246207.2:c.1388A>T, XM_005246207.1:c.1388A>T, NM_004180.3:c.1067A>T, NM_004180.2:c.1067A>T, NM_001199135.3:c.1067A>T, NM_001199135.2:c.1067A>T, NM_001199135.1:c.1067A>T, XM_024452335.2:c.1154A>T, XM_024452335.1:c.1154A>T, XM_047441814.1:c.1208A>T, XM_047441812.1:c.1208A>T, XM_047441806.1:c.1382A>T, XM_047441804.1:c.1529A>T, XM_047441805.1:c.1382A>T, XM_047441820.1:c.1154A>T, XM_047441809.1:c.1241A>T, XM_047441821.1:c.1067A>T, XP_005246264.3:p.Asp463Val, NP_004171.2:p.Asp356Val, NP_001186064.1:p.Asp356Val, XP_024308103.1:p.Asp385Val, XP_047297770.1:p.Asp403Val, XP_047297768.1:p.Asp403Val, XP_047297762.1:p.Asp461Val, XP_047297760.1:p.Asp510Val, XP_047297761.1:p.Asp461Val, XP_047297776.1:p.Asp385Val, XP_047297765.1:p.Asp414Val, XP_047297777.1:p.Asp356Val

Select item 148998314211.

rs1489983142 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:161239635 (GRCh38)
2:162096146 (GRCh37)
Canonical SPDI:: NC_000002.12:161239634:C:G
Gene:: PSMD14-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.161239635C>G, NC_000002.11:g.162096146C>G

Select item 148991659912.

rs1489916599 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:161242261 (GRCh38)
2:162098772 (GRCh37)
Canonical SPDI:: NC_000002.12:161242260:A:C
Gene:: PSMD14-DT (Varview)
Functional Consequence:: intron_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_000002.12:g.161242261A>C, NC_000002.11:g.162098772A>C

Select item 148987165113.

rs1489871651 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:161225341 (GRCh38)
2:162081852 (GRCh37)
Canonical SPDI:: NC_000002.12:161225340:T:C,NC_000002.12:161225340:T:G
Gene:: TANK (Varview), PSMD14-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_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_000002.12:g.161225341T>C, NC_000002.12:g.161225341T>G, NC_000002.11:g.162081852T>C, NC_000002.11:g.162081852T>G

Select item 148979784714.

rs1489797847 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:161228272 (GRCh38)
2:162084783 (GRCh37)
Canonical SPDI:: NC_000002.12:161228271:C:A
Gene:: TANK (Varview), PSMD14-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000002.12:g.161228272C>A, NC_000002.11:g.162084783C>A

Select item 148975086115.

rs1489750861 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:161229700 (GRCh38)
2:162086211 (GRCh37)
Canonical SPDI:: NC_000002.12:161229699:A:C,NC_000002.12:161229699:A:G
Gene:: TANK (Varview), PSMD14-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.161229700A>C, NC_000002.12:g.161229700A>G, NC_000002.11:g.162086211A>C, NC_000002.11:g.162086211A>G

Select item 148974880716.

rs1489748807 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:161225138 (GRCh38)
2:162081649 (GRCh37)
Canonical SPDI:: NC_000002.12:161225137:A:G
Gene:: TANK (Varview), PSMD14-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.161225138A>G, NC_000002.11:g.162081649A>G

Select item 148963039417.

rs1489630394 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:161253651 (GRCh38)
2:162110162 (GRCh37)
Canonical SPDI:: NC_000002.12:161253650:C:T
Gene:: PSMD14-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000002.12:g.161253651C>T, NC_000002.11:g.162110162C>T

Select item 148959861818.

rs1489598618 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:161250887 (GRCh38)
2:162107398 (GRCh37)
Canonical SPDI:: NC_000002.12:161250886:A:C
Gene:: PSMD14-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.161250887A>C, NC_000002.11:g.162107398A>C

Select item 148936442619.

rs1489364426 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 2:161239744 (GRCh38)
2:162096255 (GRCh37)
Canonical SPDI:: NC_000002.12:161239743:G:A,NC_000002.12:161239743:G:C,NC_000002.12:161239743:G:T
Gene:: PSMD14-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000002.12:g.161239744G>A, NC_000002.12:g.161239744G>C, NC_000002.12:g.161239744G>T, NC_000002.11:g.162096255G>A, NC_000002.11:g.162096255G>C, NC_000002.11:g.162096255G>T

Select item 148930815420.

rs1489308154 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:161234468 (GRCh38)
2:162090979 (GRCh37)
Canonical SPDI:: NC_000002.12:161234467:G:A
Gene:: TANK (Varview), PSMD14-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.161234468G>A, NC_000002.11:g.162090979G>A

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