SNP Links for Gene (Select 7286) - SNP

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Select item 14915751931.

rs1491575193 has merged into rs11435666 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:151548315 (GRCh38)
1:151520791 (GRCh37)
Canonical SPDI:: NC_000001.11:151548305:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:151548305:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:151548305:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:151548305:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:151548305:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:151548305:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:151548305:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:151548305:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:151548305:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:151548305:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:151548305:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:151548305:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151548305:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151548305:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151548305:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151548305:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151548305:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151548305:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151548305:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151548305:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151548305:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151548305:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TUFT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.151548315_151548321del, NC_000001.11:g.151548316_151548321del, NC_000001.11:g.151548317_151548321del, NC_000001.11:g.151548318_151548321del, NC_000001.11:g.151548319_151548321del, NC_000001.11:g.151548320_151548321del, NC_000001.11:g.151548321del, NC_000001.11:g.151548321dup, NC_000001.11:g.151548320_151548321dup, NC_000001.11:g.151548319_151548321dup, NC_000001.11:g.151548318_151548321dup, NC_000001.11:g.151548317_151548321dup, NC_000001.11:g.151548316_151548321dup, NC_000001.11:g.151548315_151548321dup, NC_000001.11:g.151548314_151548321dup, NC_000001.11:g.151548313_151548321dup, NC_000001.11:g.151548311_151548321dup, NC_000001.11:g.151548310_151548321dup, NC_000001.11:g.151548309_151548321dup, NC_000001.11:g.151548321_151548322insTTTTTTTTTTTTTTTTTT, NC_000001.11:g.151548321_151548322insTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.151548321_151548322insTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.151520791_151520797del, NC_000001.10:g.151520792_151520797del, NC_000001.10:g.151520793_151520797del, NC_000001.10:g.151520794_151520797del, NC_000001.10:g.151520795_151520797del, NC_000001.10:g.151520796_151520797del, NC_000001.10:g.151520797del, NC_000001.10:g.151520797dup, NC_000001.10:g.151520796_151520797dup, NC_000001.10:g.151520795_151520797dup, NC_000001.10:g.151520794_151520797dup, NC_000001.10:g.151520793_151520797dup, NC_000001.10:g.151520792_151520797dup, NC_000001.10:g.151520791_151520797dup, NC_000001.10:g.151520790_151520797dup, NC_000001.10:g.151520789_151520797dup, NC_000001.10:g.151520787_151520797dup, NC_000001.10:g.151520786_151520797dup, NC_000001.10:g.151520785_151520797dup, NC_000001.10:g.151520797_151520798insTTTTTTTTTTTTTTTTTT, NC_000001.10:g.151520797_151520798insTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.151520797_151520798insTTTTTTTTTTTTTTTTTTTT

Select item 14914399762.

rs1491439976 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 1:151561467 (GRCh38)
1:151533944 (GRCh37)
Canonical SPDI:: NC_000001.11:151561467:C:CAC,NC_000001.11:151561467:C:CACAC,NC_000001.11:151561467:C:CACACAC,NC_000001.11:151561467:C:CACACACAC,NC_000001.11:151561467:C:CACACACACAC,NC_000001.11:151561467:C:CACACACACACAC,NC_000001.11:151561467:C:CACACACACACACAC,NC_000001.11:151561467:C:CACACACACACACACAC,NC_000001.11:151561467:C:CACACACACACACACACAC,NC_000001.11:151561467:C:CACACACACACACACACACACACACAC
Gene:: TUFT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACAC=0./0 (ALFA)
HGVS:: NC_000001.11:g.151561468_151561469insAC, NC_000001.11:g.151561468_151561469insACAC, NC_000001.11:g.151561469AC[3], NC_000001.11:g.151561469AC[4], NC_000001.11:g.151561469AC[5], NC_000001.11:g.151561469AC[6], NC_000001.11:g.151561469AC[7], NC_000001.11:g.151561469AC[8], NC_000001.11:g.151561469AC[9], NC_000001.11:g.151561469AC[13], NC_000001.10:g.151533944_151533945insAC, NC_000001.10:g.151533944_151533945insACAC, NC_000001.10:g.151533945AC[3], NC_000001.10:g.151533945AC[4], NC_000001.10:g.151533945AC[5], NC_000001.10:g.151533945AC[6], NC_000001.10:g.151533945AC[7], NC_000001.10:g.151533945AC[8], NC_000001.10:g.151533945AC[9], NC_000001.10:g.151533945AC[13]

Select item 14912868133.

rs1491286813 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:151580661 (GRCh38)
1:151553137 (GRCh37)
Canonical SPDI:: NC_000001.11:151580660:CA:
Gene:: TUFT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.151580661_151580662del, NC_000001.10:g.151553137_151553138del

Select item 14912071744.

rs1491207174 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGT,TTGT,TTGTGT [Show Flanks]
Chromosome:: 1:151560956 (GRCh38)
1:151533433 (GRCh37)
Canonical SPDI:: NC_000001.11:151560956:T:TTGT,NC_000001.11:151560956:T:TTTGT,NC_000001.11:151560956:T:TTTGTGT
Gene:: TUFT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTGT=0./0 (ALFA)
HGVS:: NC_000001.11:g.151560957_151560958insTGT, NC_000001.11:g.151560957_151560958insTTGT, NC_000001.11:g.151560957_151560958insTTGTGT, NC_000001.10:g.151533433_151533434insTGT, NC_000001.10:g.151533433_151533434insTTGT, NC_000001.10:g.151533433_151533434insTTGTGT

Select item 14912030715.

rs1491203071 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:151562543 (GRCh38)
1:151535019 (GRCh37)
Canonical SPDI:: NC_000001.11:151562542:CA:
Gene:: TUFT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0./0 (TWINSUK)
-=0.0008/3 (ALSPAC)
HGVS:: NC_000001.11:g.151562543_151562544del, NC_000001.10:g.151535019_151535020del

Select item 14911014156.

rs1491101415 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 1:151560956 (GRCh38)
1:151533432 (GRCh37)
Canonical SPDI:: NC_000001.11:151560955:TT:
Gene:: TUFT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000018/2 (GnomAD)
HGVS:: NC_000001.11:g.151560956_151560957del, NC_000001.10:g.151533432_151533433del

Select item 14910726937.

rs1491072693 has merged into rs11432264 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:151542405 (GRCh38)
1:151514881 (GRCh37)
Canonical SPDI:: NC_000001.11:151542390:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:151542390:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:151542390:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:151542390:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:151542390:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151542390:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151542390:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151542390:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151542390:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TUFT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.13833/83 (NorthernSweden)
T=0.25399/1272 (1000Genomes)
T=0.35/14 (GENOME_DK)
HGVS:: NC_000001.11:g.151542405_151542406del, NC_000001.11:g.151542406del, NC_000001.11:g.151542406dup, NC_000001.11:g.151542405_151542406dup, NC_000001.11:g.151542402_151542406dup, NC_000001.11:g.151542401_151542406dup, NC_000001.11:g.151542398_151542406dup, NC_000001.11:g.151542397_151542406dup, NC_000001.11:g.151542396_151542406dup, NC_000001.10:g.151514881_151514882del, NC_000001.10:g.151514882del, NC_000001.10:g.151514882dup, NC_000001.10:g.151514881_151514882dup, NC_000001.10:g.151514878_151514882dup, NC_000001.10:g.151514877_151514882dup, NC_000001.10:g.151514874_151514882dup, NC_000001.10:g.151514873_151514882dup, NC_000001.10:g.151514872_151514882dup

Select item 14910721728.

rs1491072172 has merged into rs34362343 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:151546011 (GRCh38)
1:151518487 (GRCh37)
Canonical SPDI:: NC_000001.11:151546003:TTTTTTTTTTTTTT:TTTTTTT,NC_000001.11:151546003:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:151546003:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:151546003:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:151546003:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:151546003:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:151546003:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:151546003:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:151546003:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151546003:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TUFT1 (Varview), MIR554 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.1742/93 (NorthernSweden)
HGVS:: NC_000001.11:g.151546011_151546017del, NC_000001.11:g.151546015_151546017del, NC_000001.11:g.151546016_151546017del, NC_000001.11:g.151546017del, NC_000001.11:g.151546017dup, NC_000001.11:g.151546016_151546017dup, NC_000001.11:g.151546015_151546017dup, NC_000001.11:g.151546013_151546017dup, NC_000001.11:g.151546009_151546017dup, NC_000001.11:g.151546006_151546017dup, NC_000001.10:g.151518487_151518493del, NC_000001.10:g.151518491_151518493del, NC_000001.10:g.151518492_151518493del, NC_000001.10:g.151518493del, NC_000001.10:g.151518493dup, NC_000001.10:g.151518492_151518493dup, NC_000001.10:g.151518491_151518493dup, NC_000001.10:g.151518489_151518493dup, NC_000001.10:g.151518485_151518493dup, NC_000001.10:g.151518482_151518493dup

Select item 14909085079.

rs1490908507 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:151568539 (GRCh38)
1:151541015 (GRCh37)
Canonical SPDI:: NC_000001.11:151568538:G:A
Gene:: TUFT1 (Varview)
Functional Consequence:: 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_000001.11:g.151568539G>A, NC_000001.10:g.151541015G>A

Select item 149086106210.

rs1490861062 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:151562869 (GRCh38)
1:151535345 (GRCh37)
Canonical SPDI:: NC_000001.11:151562868:G:A
Gene:: TUFT1 (Varview)
Functional Consequence:: 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_000001.11:g.151562869G>A, NC_000001.10:g.151535345G>A

Select item 149085731511.

rs1490857315 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:151569604 (GRCh38)
1:151542080 (GRCh37)
Canonical SPDI:: NC_000001.11:151569603:T:C
Gene:: TUFT1 (Varview)
Functional Consequence:: intron_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_000001.11:g.151569604T>C, NC_000001.10:g.151542080T>C

Select item 149082917212.

rs1490829172 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:151564427 (GRCh38)
1:151536903 (GRCh37)
Canonical SPDI:: NC_000001.11:151564426:A:G
Gene:: TUFT1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.151564427A>G, NC_000001.10:g.151536903A>G

Select item 149080861313.

rs1490808613 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:151564513 (GRCh38)
1:151536989 (GRCh37)
Canonical SPDI:: NC_000001.11:151564512:C:T
Gene:: TUFT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.151564513C>T, NC_000001.10:g.151536989C>T

Select item 149080450514.

rs1490804505 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:151579387 (GRCh38)
1:151551863 (GRCh37)
Canonical SPDI:: NC_000001.11:151579386:A:G
Gene:: TUFT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.151579387A>G, NC_000001.10:g.151551863A>G

Select item 149078436515.

rs1490784365 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:151553219 (GRCh38)
1:151525695 (GRCh37)
Canonical SPDI:: NC_000001.11:151553218:G:A
Gene:: TUFT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.151553219G>A, NC_000001.10:g.151525695G>A

Select item 149066266116.

rs1490662661 has merged into rs68056033 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG>-,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 1:151560971 (GRCh38)
1:151533447 (GRCh37)
Canonical SPDI:: NC_000001.11:151560956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTG,NC_000001.11:151560956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000001.11:151560956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:151560956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:151560956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:151560956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:151560956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:151560956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:151560956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:151560956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:151560956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:151560956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:151560956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:151560956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:151560956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:151560956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:151560956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:151560956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:151560956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:151560956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:151560956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:151560956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:151560956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:151560956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:151560956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:151560956:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: TUFT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTG=0./0 (ALFA)
TGTG=0.4601/2304 (1000Genomes)
HGVS:: NC_000001.11:g.151560957TG[7], NC_000001.11:g.151560957TG[10], NC_000001.11:g.151560957TG[11], NC_000001.11:g.151560957TG[12], NC_000001.11:g.151560957TG[13], NC_000001.11:g.151560957TG[14], NC_000001.11:g.151560957TG[15], NC_000001.11:g.151560957TG[16], NC_000001.11:g.151560957TG[17], NC_000001.11:g.151560957TG[18], NC_000001.11:g.151560957TG[19], NC_000001.11:g.151560957TG[20], NC_000001.11:g.151560957TG[21], NC_000001.11:g.151560957TG[22], NC_000001.11:g.151560957TG[23], NC_000001.11:g.151560957TG[25], NC_000001.11:g.151560957TG[26], NC_000001.11:g.151560957TG[27], NC_000001.11:g.151560957TG[28], NC_000001.11:g.151560957TG[29], NC_000001.11:g.151560957TG[30], NC_000001.11:g.151560957TG[31], NC_000001.11:g.151560957TG[32], NC_000001.11:g.151560957TG[33], NC_000001.11:g.151560957TG[34], NC_000001.11:g.151560957TG[35], NC_000001.10:g.151533433TG[7], NC_000001.10:g.151533433TG[10], NC_000001.10:g.151533433TG[11], NC_000001.10:g.151533433TG[12], NC_000001.10:g.151533433TG[13], NC_000001.10:g.151533433TG[14], NC_000001.10:g.151533433TG[15], NC_000001.10:g.151533433TG[16], NC_000001.10:g.151533433TG[17], NC_000001.10:g.151533433TG[18], NC_000001.10:g.151533433TG[19], NC_000001.10:g.151533433TG[20], NC_000001.10:g.151533433TG[21], NC_000001.10:g.151533433TG[22], NC_000001.10:g.151533433TG[23], NC_000001.10:g.151533433TG[25], NC_000001.10:g.151533433TG[26], NC_000001.10:g.151533433TG[27], NC_000001.10:g.151533433TG[28], NC_000001.10:g.151533433TG[29], NC_000001.10:g.151533433TG[30], NC_000001.10:g.151533433TG[31], NC_000001.10:g.151533433TG[32], NC_000001.10:g.151533433TG[33], NC_000001.10:g.151533433TG[34], NC_000001.10:g.151533433TG[35]

Select item 149061899317.

rs1490618993 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:151576631 (GRCh38)
1:151549107 (GRCh37)
Canonical SPDI:: NC_000001.11:151576630:T:C
Gene:: TUFT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.151576631T>C, NC_000001.10:g.151549107T>C

Select item 149058880018.

rs1490588800 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:151544487 (GRCh38)
1:151516963 (GRCh37)
Canonical SPDI:: NC_000001.11:151544486:G:A,NC_000001.11:151544486:G:C
Gene:: TUFT1 (Varview), MIR554 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.151544487G>A, NC_000001.11:g.151544487G>C, NC_000001.10:g.151516963G>A, NC_000001.10:g.151516963G>C

Select item 149057171319.

rs1490571713 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:151542932 (GRCh38)
1:151515408 (GRCh37)
Canonical SPDI:: NC_000001.11:151542931:C:G
Gene:: TUFT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.151542932C>G, NC_000001.10:g.151515408C>G

Select item 149036581320.

rs1490365813 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:151569162 (GRCh38)
1:151541638 (GRCh37)
Canonical SPDI:: NC_000001.11:151569161:A:G
Gene:: TUFT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.151569162A>G, NC_000001.10:g.151541638A>G, NG_076445.1:g.490A>G

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