SNP Links for Gene (Select 105374338) - SNP

Links from Gene

Items: 1 to 20 of 2553

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Select item 14911578821.

rs1491157882 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:585165 (GRCh38)
4:578954 (GRCh37)
Canonical SPDI:: NC_000004.12:585164:CA:
Gene:: LOC105374338 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.585165_585166del, NC_000004.11:g.578954_578955del

Select item 14908818622.

rs1490881862 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:584470 (GRCh38)
4:578259 (GRCh37)
Canonical SPDI:: NC_000004.12:584469:T:C
Gene:: LOC105374338 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000004.12:g.584470T>C, NC_000004.11:g.578259T>C, NR_148199.1:n.1458T>C

Select item 14906628473.

rs1490662847 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:577715 (GRCh38)
4:571504 (GRCh37)
Canonical SPDI:: NC_000004.12:577714:C:T
Gene:: LOC105374338 (Varview), TMEM271 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.577715C>T, NC_000004.11:g.571504C>T, NR_148199.1:n.548C>T

Select item 14905843954.

rs1490584395 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 4:576623 (GRCh38)
4:570412 (GRCh37)
Canonical SPDI:: NC_000004.12:576622:G:
Gene:: LOC105374338 (Varview), TMEM271 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.576623del, NC_000004.11:g.570412del

Select item 14903960545.

rs1490396054 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:583972 (GRCh38)
4:577761 (GRCh37)
Canonical SPDI:: NC_000004.12:583971:T:C
Gene:: LOC105374338 (Varview)
Functional Consequence:: intron_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_000004.12:g.583972T>C, NC_000004.11:g.577761T>C

Select item 14899921366.

rs1489992136 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:575779 (GRCh38)
4:569568 (GRCh37)
Canonical SPDI:: NC_000004.12:575778:G:A,NC_000004.12:575778:G:C
Gene:: LOC105374338 (Varview), TMEM271 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000015/2 (GnomAD)
HGVS:: NC_000004.12:g.575779G>A, NC_000004.12:g.575779G>C, NC_000004.11:g.569568G>A, NC_000004.11:g.569568G>C, NM_001362796.2:c.284C>T, NM_001362796.2:c.284C>G, NM_001362796.1:c.284C>T, NM_001362796.1:c.284C>G, NP_001349725.1:p.Ala95Val, NP_001349725.1:p.Ala95Gly

Select item 14898900757.

rs1489890075 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:582526 (GRCh38)
4:576315 (GRCh37)
Canonical SPDI:: NC_000004.12:582525:C:G
Gene:: LOC105374338 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.582526C>G, NC_000004.11:g.576315C>G

Select item 14896649668.

rs1489664966 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:583363 (GRCh38)
4:577152 (GRCh37)
Canonical SPDI:: NC_000004.12:583362:G:C
Gene:: LOC105374338 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
C=0.000342/1 (KOREAN)
HGVS:: NC_000004.12:g.583363G>C, NC_000004.11:g.577152G>C

Select item 14895320909.

rs1489532090 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:577208 (GRCh38)
4:570997 (GRCh37)
Canonical SPDI:: NC_000004.12:577207:G:A
Gene:: LOC105374338 (Varview), TMEM271 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.577208G>A, NC_000004.11:g.570997G>A, NR_148199.1:n.41G>A

Select item 148921631410.

rs1489216314 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:578925 (GRCh38)
4:572714 (GRCh37)
Canonical SPDI:: NC_000004.12:578924:C:T
Gene:: LOC105374338 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.578925C>T, NC_000004.11:g.572714C>T

Select item 148918661811.

rs1489186618 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 4:577989 (GRCh38)
4:571778 (GRCh37)
Canonical SPDI:: NC_000004.12:577988:T:A,NC_000004.12:577988:T:C
Gene:: LOC105374338 (Varview), TMEM271 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
C=0.00004/1 (TOMMO)
HGVS:: NC_000004.12:g.577989T>A, NC_000004.12:g.577989T>C, NC_000004.11:g.571778T>A, NC_000004.11:g.571778T>C, NR_148199.1:n.822T>A, NR_148199.1:n.822T>C

Select item 148879629612.

rs1488796296 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 4:575326 (GRCh38)
4:569115 (GRCh37)
Canonical SPDI:: NC_000004.12:575325:T:A,NC_000004.12:575325:T:C
Gene:: LOC105374338 (Varview), TMEM271 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.575326T>A, NC_000004.12:g.575326T>C, NC_000004.11:g.569115T>A, NC_000004.11:g.569115T>C, NM_001362796.2:c.737A>T, NM_001362796.2:c.737A>G, NM_001362796.1:c.737A>T, NM_001362796.1:c.737A>G, NP_001349725.1:p.Gln246Leu, NP_001349725.1:p.Gln246Arg

Select item 148870482113.

rs1488704821 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:585343 (GRCh38)
4:579132 (GRCh37)
Canonical SPDI:: NC_000004.12:585342:C:T
Gene:: LOC105374338 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.585343C>T, NC_000004.11:g.579132C>T

Select item 148855269314.

rs1488552693 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:576597 (GRCh38)
4:570386 (GRCh37)
Canonical SPDI:: NC_000004.12:576596:C:T
Gene:: LOC105374338 (Varview), TMEM271 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.576597C>T, NC_000004.11:g.570386C>T

Select item 148843833015.

rs1488438330 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:581946 (GRCh38)
4:575735 (GRCh37)
Canonical SPDI:: NC_000004.12:581945:G:T
Gene:: LOC105374338 (Varview)
Functional Consequence:: 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_000004.12:g.581946G>T, NC_000004.11:g.575735G>T

Select item 148823986516.

rs1488239865 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 4:578576 (GRCh38)
4:572365 (GRCh37)
Canonical SPDI:: NC_000004.12:578575:T:A,NC_000004.12:578575:T:C
Gene:: LOC105374338 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.578576T>A, NC_000004.12:g.578576T>C, NC_000004.11:g.572365T>A, NC_000004.11:g.572365T>C

Select item 148813606117.

rs1488136061 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:577702 (GRCh38)
4:571491 (GRCh37)
Canonical SPDI:: NC_000004.12:577701:C:A,NC_000004.12:577701:C:T
Gene:: LOC105374338 (Varview), TMEM271 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
T=0.000637/11 (TOMMO)
HGVS:: NC_000004.12:g.577702C>A, NC_000004.12:g.577702C>T, NC_000004.11:g.571491C>A, NC_000004.11:g.571491C>T, NR_148199.1:n.535C>A, NR_148199.1:n.535C>T

Select item 148792059918.

rs1487920599 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:575646 (GRCh38)
4:569435 (GRCh37)
Canonical SPDI:: NC_000004.12:575645:G:C
Gene:: LOC105374338 (Varview), TMEM271 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.575646G>C, NC_000004.11:g.569435G>C, NM_001362796.2:c.417C>G, NM_001362796.1:c.417C>G

Select item 148789384219.

rs1487893842 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:578122 (GRCh38)
4:571911 (GRCh37)
Canonical SPDI:: NC_000004.12:578121:C:T
Gene:: LOC105374338 (Varview), TMEM271 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000462/7 (ALFA)
T=0.000086/12 (GnomAD)
T=0.001339/6 (Estonian)
T=0.005/3 (NorthernSweden)
HGVS:: NC_000004.12:g.578122C>T, NC_000004.11:g.571911C>T, NR_148199.1:n.955C>T

Select item 148727909520.

rs1487279095 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:578103 (GRCh38)
4:571892 (GRCh37)
Canonical SPDI:: NC_000004.12:578102:G:A
Gene:: LOC105374338 (Varview), TMEM271 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_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_000004.12:g.578103G>A, NC_000004.11:g.571892G>A, NR_148199.1:n.936G>A

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