SNP Links for Gene (Select 114034) - SNP

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Select item 14912455481.

rs1491245548 has merged into rs769406151 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:45338755 (GRCh38)
1:45804427 (GRCh37)
Canonical SPDI:: NC_000001.11:45338753:TGT:T
Gene:: MUTYH (Varview), TOE1 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,5_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.129911/1541 (ALFA)
-=0.000036/1 (TOMMO)
TG=0.055911/280 (1000Genomes)
-=0.17861/17960 (GnomAD)
-=0.191729/102 (NorthernSweden)
HGVS:: NC_000001.11:g.45338755_45338756del, NC_000001.10:g.45804427_45804428del, NG_008189.1:g.6716_6717del, XM_047421197.1:c.-558_-557del

Select item 14908939212.

rs1490893921 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:45337987 (GRCh38)
1:45803659 (GRCh37)
Canonical SPDI:: NC_000001.11:45337986:T:C
Gene:: MUTYH (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.45337987T>C, NC_000001.10:g.45803659T>C, NG_008189.1:g.7484A>G

Select item 14907610493.

rs1490761049 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:45340025 (GRCh38)
1:45805697 (GRCh37)
Canonical SPDI:: NC_000001.11:45340024:T:A
Gene:: MUTYH (Varview), TOE1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.45340025T>A, NC_000001.10:g.45805697T>A, NG_008189.1:g.5446A>T, NR_146883.2:n.96A>T, NR_146883.1:n.91A>T, NM_001048172.2:c.-56A>T, NM_001048172.1:c.-56A>T, NM_001048173.2:c.-56A>T, NM_001048173.1:c.-56A>T, NM_001293196.2:c.-268A>T, NM_001293196.1:c.-268A>T, NR_176272.1:n.96A>T, NM_001407078.1:c.-206A>T, NM_001407081.1:c.-206A>T, NR_176273.1:n.96A>T, NR_176271.1:n.96A>T, NM_001407075.1:c.-212A>T, NM_001407083.1:c.-56A>T, NM_001407077.1:c.-56A>T, NM_001407079.1:c.-56A>T, NM_001407080.1:c.-56A>T, NM_001407082.1:c.-263A>T, NM_025077.3:c.-228T>A, XM_047421191.1:c.-509A>T, XM_047421199.1:c.-509A>T, XM_047421194.1:c.-206A>T

Select item 14894257944.

rs1489425794 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:45341358 (GRCh38)
1:45807030 (GRCh37)
Canonical SPDI:: NC_000001.11:45341357:T:C
Gene:: MUTYH (Varview), TOE1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.45341358T>C, NC_000001.10:g.45807030T>C, NG_008189.1:g.4113A>G

Select item 14892342895.

rs1489234289 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:45340017 (GRCh38)
1:45805690 (GRCh37)
Canonical SPDI:: NC_000001.11:45340017:GGGGG:GGGGGG
Gene:: MUTYH (Varview), TOE1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.45340022dup, NC_000001.10:g.45805694dup, NG_008189.1:g.5453dup, NR_146883.2:n.103dup, NR_146883.1:n.98dup, NM_001048172.2:c.-49dup, NM_001048172.1:c.-49dup, NM_001048173.2:c.-49dup, NM_001048173.1:c.-49dup, NM_001293196.2:c.-261dup, NM_001293196.1:c.-261dup, NR_176272.1:n.103dup, NM_001407078.1:c.-199dup, NM_001407081.1:c.-199dup, NR_176273.1:n.103dup, NR_176271.1:n.103dup, NM_001407075.1:c.-205dup, NM_001407083.1:c.-49dup, NM_001407077.1:c.-49dup, NM_001407079.1:c.-49dup, NM_001407080.1:c.-49dup, NM_001407082.1:c.-256dup, NM_025077.3:c.-231dup, XM_047421191.1:c.-502dup, XM_047421199.1:c.-502dup, XM_047421194.1:c.-199dup

Select item 14891352126.

rs1489135212 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:45340852 (GRCh38)
1:45806524 (GRCh37)
Canonical SPDI:: NC_000001.11:45340851:G:A
Gene:: MUTYH (Varview), TOE1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.45340852G>A, NC_000001.10:g.45806524G>A, NG_008189.1:g.4619C>T

Select item 14888161307.

rs1488816130 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:45341321 (GRCh38)
1:45806993 (GRCh37)
Canonical SPDI:: NC_000001.11:45341320:G:C
Gene:: MUTYH (Varview), TOE1 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.45341321G>C, NC_000001.10:g.45806993G>C, NG_008189.1:g.4150C>G, XM_005270413.6:c.76G>C, XM_005270413.5:c.76G>C, XM_005270413.4:c.76G>C, XM_005270413.3:c.76G>C, XM_005270413.2:c.76G>C, XM_005270413.1:c.76G>C, XM_005270412.5:c.232G>C, XM_005270412.4:c.232G>C, XM_005270412.3:c.232G>C, XM_005270412.2:c.232G>C, XM_005270412.1:c.232G>C, NM_025077.4:c.214G>C, NM_025077.3:c.214G>C, XM_047443500.1:c.232G>C, XM_047443512.1:c.214G>C, XM_047443504.1:c.232G>C, XP_005270470.1:p.Asp26His, XP_005270469.1:p.Asp78His, NP_079353.3:p.Asp72His, XP_047299456.1:p.Asp78His, XP_047299468.1:p.Asp72His, XP_047299460.1:p.Asp78His

Select item 14887565258.

rs1488756525 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:45342497 (GRCh38)
1:45808169 (GRCh37)
Canonical SPDI:: NC_000001.11:45342496:C:T
Gene:: TOE1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000001.11:g.45342497C>T, NC_000001.10:g.45808169C>T, NG_008189.1:g.2974G>A, XM_005270413.6:c.468C>T, XM_005270413.5:c.468C>T, XM_005270413.4:c.468C>T, XM_005270413.3:c.468C>T, XM_005270413.2:c.468C>T, XM_005270413.1:c.468C>T, XM_005270412.5:c.624C>T, XM_005270412.4:c.624C>T, XM_005270412.3:c.624C>T, XM_005270412.2:c.624C>T, XM_005270412.1:c.624C>T, NM_025077.4:c.606C>T, NM_025077.3:c.606C>T, XM_047443500.1:c.624C>T, XM_047443512.1:c.606C>T, XM_047443504.1:c.624C>T

Select item 14882973309.

rs1488297330 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:45341413 (GRCh38)
1:45807085 (GRCh37)
Canonical SPDI:: NC_000001.11:45341412:G:A
Gene:: MUTYH (Varview), TOE1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.45341413G>A, NC_000001.10:g.45807085G>A, NG_008189.1:g.4058C>T

Select item 148824848610.

rs1488248486 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 1:45342642 (GRCh38)
1:45808314 (GRCh37)
Canonical SPDI:: NC_000001.11:45342641:T:
Gene:: TOE1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.45342642del, NC_000001.10:g.45808314del, NG_008189.1:g.2829del, XM_005270413.6:c.613del, XM_005270413.5:c.613del, XM_005270413.4:c.613del, XM_005270413.3:c.613del, XM_005270413.2:c.613del, XM_005270413.1:c.613del, XM_005270412.5:c.769del, XM_005270412.4:c.769del, XM_005270412.3:c.769del, XM_005270412.2:c.769del, XM_005270412.1:c.769del, NM_025077.4:c.751del, NM_025077.3:c.751del, XM_047443500.1:c.769del, XM_047443512.1:c.751del, XM_047443504.1:c.769del, XP_005270470.1:p.Cys205fs, XP_005270469.1:p.Cys257fs, NP_079353.3:p.Cys251fs, XP_047299456.1:p.Cys257fs, XP_047299468.1:p.Trp251fs, XP_047299460.1:p.Trp257fs

Select item 148784449511.

rs1487844495 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:45338751 (GRCh38)
1:45804423 (GRCh37)
Canonical SPDI:: NC_000001.11:45338750:T:G
Gene:: MUTYH (Varview), TOE1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.45338751T>G, NC_000001.10:g.45804423T>G, NG_008189.1:g.6720A>C, XM_047421197.1:c.-554A>C

Select item 148747477112.

rs1487474771 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:45340323 (GRCh38)
1:45805995 (GRCh37)
Canonical SPDI:: NC_000001.11:45340322:G:A
Gene:: MUTYH (Varview), TOE1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,splice_donor_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.45340323G>A, NC_000001.10:g.45805995G>A, NG_008189.1:g.5148C>T, NM_012222.3:c.-69C>T, NM_012222.2:c.-69C>T, NR_146882.2:n.118C>T, NR_146882.1:n.148C>T, NM_001128425.2:c.-69C>T, NM_001128425.1:c.-69C>T, NM_001293190.2:c.-69C>T, NM_001293190.1:c.-69C>T, NM_001048171.2:c.-111C>T, NM_001048171.1:c.-69C>T, NM_001293192.2:c.-323C>T, NM_001293192.1:c.-323C>T, NM_001350650.2:c.-382C>T, NM_001350650.1:c.-382C>T, NM_001350651.2:c.-318C>T, NM_001350651.1:c.-318C>T, NR_176269.1:n.118C>T, NR_176274.1:n.118C>T, NM_001407071.1:c.-127C>T, NM_001407070.1:c.-127C>T, NM_001407072.1:c.-107C>T, NM_001407069.1:c.-69C>T, NM_001407073.1:c.-69C>T, XM_005270413.6:c.-306G>A, XM_005270413.5:c.-306G>A, XM_005270413.4:c.-306G>A, XM_005270413.3:c.-306G>A, XM_005270413.2:c.-306G>A, XM_005270413.1:c.-306G>A, XM_011541503.3:c.-69C>T, XM_017001332.2:c.-107C>T, NR_176270.1:n.118C>T, XM_047421202.1:c.-69C>T, XM_047421195.1:c.-69C>T, XM_047421200.1:c.-69C>T

Select item 148712944413.

rs1487129444 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:45343016 (GRCh38)
1:45808688 (GRCh37)
Canonical SPDI:: NC_000001.11:45343015:C:T
Gene:: TOE1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.45343016C>T, NC_000001.10:g.45808688C>T, NG_008189.1:g.2455G>A

Select item 148685021714.

rs1486850217 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAGT [Show Flanks]
Chromosome:: 1:45342401 (GRCh38)
1:45808074 (GRCh37)
Canonical SPDI:: NC_000001.11:45342401:CAGTCAGT:CAGTCAGTCAGT
Gene:: MUTYH (Varview), TOE1 (Varview)
Functional Consequence:: frameshift_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAGTCAGTCAGT=0./0 (ALFA)
CAGT=0.000004/1 (TOPMED)
CAGT=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.45342402CAGT[3], NC_000001.10:g.45808074CAGT[3], NG_008189.1:g.3062ACTG[3], XM_005270413.6:c.377_380dup, XM_005270413.5:c.377_380dup, XM_005270413.4:c.377_380dup, XM_005270413.3:c.377_380dup, XM_005270413.2:c.377_380dup, XM_005270413.1:c.377_380dup, XM_005270412.5:c.533_536dup, XM_005270412.4:c.533_536dup, XM_005270412.3:c.533_536dup, XM_005270412.2:c.533_536dup, XM_005270412.1:c.533_536dup, NM_025077.4:c.515_518dup, NM_025077.3:c.515_518dup, XM_047443500.1:c.533_536dup, XM_047443512.1:c.515_518dup, XM_047443504.1:c.533_536dup, XP_005270470.1:p.Arg128fs, XP_005270469.1:p.Arg180fs, NP_079353.3:p.Arg174fs, XP_047299456.1:p.Arg180fs, XP_047299468.1:p.Arg174fs, XP_047299460.1:p.Arg180fs

Select item 148628311315.

rs1486283113 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 1:45343568 (GRCh38)
1:45809240 (GRCh37)
Canonical SPDI:: NC_000001.11:45343567:CCC:CC
Gene:: TESK2 (Varview), TOE1 (Varview)
Functional Consequence:: frameshift_variant,500B_downstream_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.45343570del, NC_000001.10:g.45809242del, NG_008189.1:g.1903del, XM_005270413.6:c.1263del, XM_005270413.5:c.1263del, XM_005270413.4:c.1263del, XM_005270413.3:c.1263del, XM_005270413.2:c.1263del, XM_005270413.1:c.1263del, XM_005270412.5:c.1419del, XM_005270412.4:c.1419del, XM_005270412.3:c.1419del, XM_005270412.2:c.1419del, XM_005270412.1:c.1419del, NM_025077.4:c.1401del, NM_025077.3:c.1401del, XP_005270470.1:p.Trp422fs, XP_005270469.1:p.Trp474fs, NP_079353.3:p.Trp468fs

Select item 148529536316.

rs1485295363 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:45343135 (GRCh38)
1:45808807 (GRCh37)
Canonical SPDI:: NC_000001.11:45343134:C:A,NC_000001.11:45343134:C:T
Gene:: TOE1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,downstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.45343135C>A, NC_000001.11:g.45343135C>T, NC_000001.10:g.45808807C>A, NC_000001.10:g.45808807C>T, NG_008189.1:g.2336G>T, NG_008189.1:g.2336G>A, XM_005270413.6:c.828C>A, XM_005270413.6:c.828C>T, XM_005270413.5:c.828C>A, XM_005270413.5:c.828C>T, XM_005270413.4:c.828C>A, XM_005270413.4:c.828C>T, XM_005270413.3:c.828C>A, XM_005270413.3:c.828C>T, XM_005270413.2:c.828C>A, XM_005270413.2:c.828C>T, XM_005270413.1:c.828C>A, XM_005270413.1:c.828C>T, XM_005270412.5:c.984C>A, XM_005270412.5:c.984C>T, XM_005270412.4:c.984C>A, XM_005270412.4:c.984C>T, XM_005270412.3:c.984C>A, XM_005270412.3:c.984C>T, XM_005270412.2:c.984C>A, XM_005270412.2:c.984C>T, XM_005270412.1:c.984C>A, XM_005270412.1:c.984C>T, NM_025077.4:c.966C>A, NM_025077.4:c.966C>T, NM_025077.3:c.966C>A, NM_025077.3:c.966C>T, XP_005270470.1:p.Asp276Glu, XP_005270469.1:p.Asp328Glu, NP_079353.3:p.Asp322Glu

Select item 148484431717.

rs1484844317 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 1:45344473 (GRCh38)
1:45810145 (GRCh37)
Canonical SPDI:: NC_000001.11:45344472:AAAA:AAA
Gene:: TESK2 (Varview), TOE1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: AAA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.45344476del, NC_000001.10:g.45810148del, NG_008189.1:g.998del, NM_007170.3:c.*367del, NM_007170.2:c.*367del, NM_001320800.2:c.*367del, NM_001320800.1:c.*367del

Select item 148464398818.

rs1484643988 has merged into rs1255284252 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,TTTT [Show Flanks]
Chromosome:: 1:45337498 (GRCh38)
1:45803170 (GRCh37)
Canonical SPDI:: NC_000001.11:45337493:TTTTTTT:TTTT,NC_000001.11:45337493:TTTTTTT:TTTTTTTT
Gene:: MUTYH (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.45337498_45337500del, NC_000001.11:g.45337500dup, NC_000001.10:g.45803170_45803172del, NC_000001.10:g.45803172dup, NG_008189.1:g.7975_7977del, NG_008189.1:g.7977dup

Select item 148461070319.

rs1484610703 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:45344093 (GRCh38)
1:45809765 (GRCh37)
Canonical SPDI:: NC_000001.11:45344092:A:G
Gene:: TESK2 (Varview), TOE1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.45344093A>G, NC_000001.10:g.45809765A>G, NG_008189.1:g.1378T>C, NM_007170.3:c.*747T>C, NM_007170.2:c.*747T>C, NM_001320800.2:c.*747T>C, NM_001320800.1:c.*747T>C

Select item 148446462420.

rs1484464624 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:45342772 (GRCh38)
1:45808444 (GRCh37)
Canonical SPDI:: NC_000001.11:45342771:A:T
Gene:: TOE1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.45342772A>T, NC_000001.10:g.45808444A>T, NG_008189.1:g.2699T>A, XM_047443500.1:c.804A>T, XM_047443512.1:c.*19A>T, XM_047443504.1:c.*19A>T, XP_047299456.1:p.Lys268Asn

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