SNP Links for Gene (Select 641467) - SNP

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Select item 14905177171.

rs1490517717 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:44577259 (GRCh38)
13:45151395 (GRCh37)
Canonical SPDI:: NC_000013.11:44577258:G:A
Gene:: TSC22D1 (Varview), TSC22D1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.44577259G>A, NC_000013.10:g.45151395G>A, NG_029852.2:g.4307C>T, XM_047430715.1:c.-997C>T, XM_047430719.1:c.-775C>T, XM_047430716.1:c.-775C>T, XM_047430717.1:c.-997C>T, XM_047430718.1:c.-775C>T

Select item 14904536832.

rs1490453683 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGTGTCCCCCGCCTGCGGA [Show Flanks]
Chromosome:: 13:44577823 (GRCh38)
13:45151960 (GRCh37)
Canonical SPDI:: NC_000013.11:44577823:GGTGTCCCCCGCCTGCGGA:GGTGTCCCCCGCCTGCGGAGGTGTCCCCCGCCTGCGGA
Gene:: TSC22D1 (Varview), TSC22D1-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGTGTCCCCCGCCTGCGGAGGTGTCCCCCGCCTGCGGA=0./0 (ALFA)
GGTGTCCCCCGCCTGCGGA=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.44577824_44577842dup, NC_000013.10:g.45151960_45151978dup, NG_029852.2:g.3724_3742dup

Select item 14903617573.

rs1490361757 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 13:44579668 (GRCh38)
13:45153804 (GRCh37)
Canonical SPDI:: NC_000013.11:44579667:AA:A
Gene:: TSC22D1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.44579669del, NC_000013.10:g.45153805del, NG_029852.2:g.1898del, NR_038381.1:n.2079del

Select item 14902015244.

rs1490201524 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:44576599 (GRCh38)
13:45150735 (GRCh37)
Canonical SPDI:: NC_000013.11:44576598:G:A
Gene:: TSC22D1 (Varview), TSC22D1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_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_000013.11:g.44576599G>A, NC_000013.10:g.45150735G>A, NG_029852.2:g.4967C>T, XM_047430715.1:c.-337C>T, XM_047430717.1:c.-337C>T

Select item 14898678795.

rs1489867879 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 13:44578548 (GRCh38)
13:45152684 (GRCh37)
Canonical SPDI:: NC_000013.11:44578547:T:A,NC_000013.11:44578547:T:C
Gene:: TSC22D1 (Varview), TSC22D1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
HGVS:: NC_000013.11:g.44578548T>A, NC_000013.11:g.44578548T>C, NC_000013.10:g.45152684T>A, NC_000013.10:g.45152684T>C, NG_029852.2:g.3018A>T, NG_029852.2:g.3018A>G, NR_038381.1:n.958T>A, NR_038381.1:n.958T>C

Select item 14896086336.

rs1489608633 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:44576942 (GRCh38)
13:45151078 (GRCh37)
Canonical SPDI:: NC_000013.11:44576941:C:A
Gene:: TSC22D1 (Varview), TSC22D1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.44576942C>A, NC_000013.10:g.45151078C>A, NG_029852.2:g.4624G>T, XM_047430715.1:c.-680G>T, XM_047430719.1:c.-458G>T, XM_047430716.1:c.-458G>T, XM_047430717.1:c.-680G>T, XM_047430718.1:c.-458G>T

Select item 14895401447.

rs1489540144 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:44578317 (GRCh38)
13:45152453 (GRCh37)
Canonical SPDI:: NC_000013.11:44578316:G:T
Gene:: TSC22D1 (Varview), TSC22D1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_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_000013.11:g.44578317G>T, NC_000013.10:g.45152453G>T, NG_029852.2:g.3249C>A, NR_038381.1:n.727G>T

Select item 14894478388.

rs1489447838 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:44579274 (GRCh38)
13:45153410 (GRCh37)
Canonical SPDI:: NC_000013.11:44579273:C:T
Gene:: TSC22D1 (Varview), TSC22D1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.44579274C>T, NC_000013.10:g.45153410C>T, NG_029852.2:g.2292G>A, NR_038381.1:n.1684C>T

Select item 14884621169.

rs1488462116 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:44577314 (GRCh38)
13:45151450 (GRCh37)
Canonical SPDI:: NC_000013.11:44577313:C:T
Gene:: TSC22D1 (Varview), TSC22D1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000013.11:g.44577314C>T, NC_000013.10:g.45151450C>T, NG_029852.2:g.4252G>A, XM_047430715.1:c.-1052G>A, XM_047430719.1:c.-830G>A, XM_047430716.1:c.-830G>A, XM_047430717.1:c.-1052G>A, XM_047430718.1:c.-830G>A

Select item 148795828310.

rs1487958283 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:44578002 (GRCh38)
13:45152138 (GRCh37)
Canonical SPDI:: NC_000013.11:44578001:G:T
Gene:: TSC22D1 (Varview), TSC22D1-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_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_000013.11:g.44578002G>T, NC_000013.10:g.45152138G>T, NG_029852.2:g.3564C>A

Select item 148768438911.

rs1487684389 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:44575133 (GRCh38)
13:45149269 (GRCh37)
Canonical SPDI:: NC_000013.11:44575132:A:G
Gene:: TSC22D1 (Varview), TSC22D1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.44575133A>G, NC_000013.10:g.45149269A>G, NG_029852.2:g.6433T>C, NM_183422.4:c.942T>C, NM_183422.3:c.942T>C, NM_001243799.1:c.942T>C, XM_017020811.3:c.942T>C, XM_017020811.2:c.942T>C, XM_017020811.1:c.942T>C, XM_017020810.3:c.942T>C, XM_017020810.2:c.942T>C, XM_017020810.1:c.942T>C, XR_001749705.3:n.1198T>C, XR_001749705.2:n.1535T>C, XR_001749705.1:n.1296T>C, XM_047430715.1:c.942T>C, XM_047430719.1:c.942T>C, XM_047430716.1:c.942T>C, XM_047430717.1:c.942T>C, XM_047430718.1:c.942T>C

Select item 148741806312.

rs1487418063 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:44574172 (GRCh38)
13:45148308 (GRCh37)
Canonical SPDI:: NC_000013.11:44574171:T:C
Gene:: TSC22D1 (Varview), TSC22D1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000085/3 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.44574172T>C, NC_000013.10:g.45148308T>C, NG_029852.2:g.7394A>G, NM_183422.4:c.1903A>G, NM_183422.3:c.1903A>G, XM_017020811.3:c.1903A>G, XM_017020811.2:c.1903A>G, XM_017020811.1:c.1903A>G, XM_017020810.3:c.1903A>G, XM_017020810.2:c.1903A>G, XM_017020810.1:c.1903A>G, XR_001749705.3:n.2159A>G, XR_001749705.2:n.2496A>G, XR_001749705.1:n.2257A>G, XM_047430715.1:c.1903A>G, XM_047430719.1:c.1903A>G, XM_047430716.1:c.1903A>G, XM_047430717.1:c.1903A>G, XM_047430718.1:c.1903A>G, NP_904358.2:p.Met635Val, XP_016876300.1:p.Met635Val, XP_016876299.1:p.Met635Val, XP_047286671.1:p.Met635Val, XP_047286675.1:p.Met635Val, XP_047286672.1:p.Met635Val, XP_047286673.1:p.Met635Val, XP_047286674.1:p.Met635Val

Select item 148660941413.

rs1486609414 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 13:44579666 (GRCh38)
13:45153802 (GRCh37)
Canonical SPDI:: NC_000013.11:44579665:C:A,NC_000013.11:44579665:C:T
Gene:: TSC22D1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000013.11:g.44579666C>A, NC_000013.11:g.44579666C>T, NC_000013.10:g.45153802C>A, NC_000013.10:g.45153802C>T, NG_029852.2:g.1900G>T, NG_029852.2:g.1900G>A, NR_038381.1:n.2076C>A, NR_038381.1:n.2076C>T

Select item 148592100514.

rs1485921005 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 13:44577428 (GRCh38)
13:45151564 (GRCh37)
Canonical SPDI:: NC_000013.11:44577427:GGG:GG
Gene:: TSC22D1 (Varview), TSC22D1-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000013.11:g.44577430del, NC_000013.10:g.45151566del, NG_029852.2:g.4138del

Select item 148569547315.

rs1485695473 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:44575605 (GRCh38)
13:45149741 (GRCh37)
Canonical SPDI:: NC_000013.11:44575604:A:C
Gene:: TSC22D1 (Varview), TSC22D1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000056/2 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.44575605A>C, NC_000013.10:g.45149741A>C, NG_029852.2:g.5961T>G, NM_183422.4:c.470T>G, NM_183422.3:c.470T>G, NM_001243799.1:c.470T>G, XM_017020811.3:c.470T>G, XM_017020811.2:c.470T>G, XM_017020811.1:c.470T>G, XM_017020810.3:c.470T>G, XM_017020810.2:c.470T>G, XM_017020810.1:c.470T>G, XR_001749705.3:n.726T>G, XR_001749705.2:n.1063T>G, XR_001749705.1:n.824T>G, XM_047430715.1:c.470T>G, XM_047430719.1:c.470T>G, XM_047430716.1:c.470T>G, XM_047430717.1:c.470T>G, XM_047430718.1:c.470T>G, NP_904358.2:p.Val157Gly, NP_001230728.1:p.Val157Gly, XP_016876300.1:p.Val157Gly, XP_016876299.1:p.Val157Gly, XP_047286671.1:p.Val157Gly, XP_047286675.1:p.Val157Gly, XP_047286672.1:p.Val157Gly, XP_047286673.1:p.Val157Gly, XP_047286674.1:p.Val157Gly

Select item 148539652916.

rs1485396529 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 13:44578890 (GRCh38)
13:45153026 (GRCh37)
Canonical SPDI:: NC_000013.11:44578888:TAT:T
Gene:: TSC22D1 (Varview), TSC22D1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000013.11:g.44578890_44578891del, NC_000013.10:g.45153026_45153027del, NG_029852.2:g.2676_2677del, NR_038381.1:n.1300_1301del

Select item 148488330517.

rs1484883305 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 13:44576761 (GRCh38)
13:45150897 (GRCh37)
Canonical SPDI:: NC_000013.11:44576760:G:A,NC_000013.11:44576760:G:C
Gene:: TSC22D1 (Varview), TSC22D1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.44576761G>A, NC_000013.11:g.44576761G>C, NC_000013.10:g.45150897G>A, NC_000013.10:g.45150897G>C, NG_029852.2:g.4805C>T, NG_029852.2:g.4805C>G, XM_047430715.1:c.-499C>T, XM_047430715.1:c.-499C>G, XM_047430719.1:c.-277C>T, XM_047430719.1:c.-277C>G, XM_047430716.1:c.-277C>T, XM_047430716.1:c.-277C>G, XM_047430717.1:c.-499C>T, XM_047430717.1:c.-499C>G, XM_047430718.1:c.-277C>T, XM_047430718.1:c.-277C>G

Select item 148425288218.

rs1484252882 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 13:44574075 (GRCh38)
13:45148211 (GRCh37)
Canonical SPDI:: NC_000013.11:44574074:A:T
Gene:: TSC22D1 (Varview), TSC22D1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.44574075A>T, NC_000013.10:g.45148211A>T, NG_029852.2:g.7491T>A, NM_183422.4:c.2000T>A, NM_183422.3:c.2000T>A, XM_017020811.3:c.2000T>A, XM_017020811.2:c.2000T>A, XM_017020811.1:c.2000T>A, XM_017020810.3:c.2000T>A, XM_017020810.2:c.2000T>A, XM_017020810.1:c.2000T>A, XR_001749705.3:n.2256T>A, XR_001749705.2:n.2593T>A, XR_001749705.1:n.2354T>A, XM_047430715.1:c.2000T>A, XM_047430719.1:c.2000T>A, XM_047430716.1:c.2000T>A, XM_047430717.1:c.2000T>A, XM_047430718.1:c.2000T>A, NP_904358.2:p.Met667Lys, XP_016876300.1:p.Met667Lys, XP_016876299.1:p.Met667Lys, XP_047286671.1:p.Met667Lys, XP_047286675.1:p.Met667Lys, XP_047286672.1:p.Met667Lys, XP_047286673.1:p.Met667Lys, XP_047286674.1:p.Met667Lys

Select item 148373639019.

rs1483736390 has merged into rs890504963 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 13:44576297 (GRCh38)
13:45150433 (GRCh37)
Canonical SPDI:: NC_000013.11:44576296:GGGGGG:GGGGG,NC_000013.11:44576296:GGGGGG:GGGGGGG
Gene:: TSC22D1 (Varview), TSC22D1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
-=0.00004/1 (TOMMO)
HGVS:: NC_000013.11:g.44576302del, NC_000013.11:g.44576302dup, NC_000013.10:g.45150438del, NC_000013.10:g.45150438dup, NG_029852.2:g.5269del, NG_029852.2:g.5269dup, NM_183422.4:c.-223del, NM_183422.4:c.-223dup, NM_183422.3:c.-223del, NM_183422.3:c.-223dup, NM_001243799.1:c.-223del, NM_001243799.1:c.-223dup, XM_017020811.3:c.-223del, XM_017020811.3:c.-223dup, XM_017020811.2:c.-223del, XM_017020811.2:c.-223dup, XM_017020811.1:c.-223del, XM_017020811.1:c.-223dup, XM_017020810.3:c.-223del, XM_017020810.3:c.-223dup, XM_017020810.2:c.-223del, XM_017020810.2:c.-223dup, XM_017020810.1:c.-223del, XM_017020810.1:c.-223dup, XR_001749705.3:n.34del, XR_001749705.3:n.34dup, XR_001749705.2:n.371del, XR_001749705.2:n.371dup, XR_001749705.1:n.132del, XR_001749705.1:n.132dup

Select item 148362184920.

rs1483621849 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:44577438 (GRCh38)
13:45151574 (GRCh37)
Canonical SPDI:: NC_000013.11:44577437:C:T
Gene:: TSC22D1 (Varview), TSC22D1-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_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_000013.11:g.44577438C>T, NC_000013.10:g.45151574C>T, NG_029852.2:g.4128G>A

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