SNP Links for Gene (Select 219743) - SNP

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Select item 14908650751.

rs1490865075 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:70143996 (GRCh38)
10:71903752 (GRCh37)
Canonical SPDI:: NC_000010.11:70143995:C:A,NC_000010.11:70143995:C:T
Gene:: TYSND1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.70143996C>A, NC_000010.11:g.70143996C>T, NC_000010.10:g.71903752C>A, NC_000010.10:g.71903752C>T

Select item 14903076912.

rs1490307691 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCTCGCG [Show Flanks]
Chromosome:: 10:70146249 (GRCh38)
10:71906006 (GRCh37)
Canonical SPDI:: NC_000010.11:70146249:GGCTCGCG:GGCTCGCGGCTCGCG
Gene:: TYSND1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,frameshift_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGCTCGCGGCTCGCG=0./0 (ALFA)
GGCTCGC=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.70146251_70146257dup, NC_000010.10:g.71906007_71906013dup, NM_173555.4:c.331_337dup, NM_173555.3:c.331_337dup, NM_001040273.3:c.331_337dup, NM_001040273.2:c.331_337dup, NP_775826.2:p.Leu113fs, NP_001035363.1:p.Leu113fs

Select item 14898181093.

rs1489818109 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:70146643 (GRCh38)
10:71906399 (GRCh37)
Canonical SPDI:: NC_000010.11:70146642:G:C
Gene:: TYSND1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_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_000010.11:g.70146643G>C, NC_000010.10:g.71906399G>C, NM_173555.4:c.-57C>G, NM_173555.3:c.-57C>G, NM_001040273.3:c.-57C>G, NM_001040273.2:c.-57C>G, NR_073581.2:n.58C>G, NR_073581.1:n.98C>G, NR_073594.2:n.58C>G, NR_073594.1:n.98C>G, NR_073592.2:n.58C>G, NR_073592.1:n.98C>G

Select item 14897810264.

rs1489781026 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 10:70140299 (GRCh38)
10:71900055 (GRCh37)
Canonical SPDI:: NC_000010.11:70140298:T:
Gene:: TYSND1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.70140299del, NC_000010.10:g.71900055del

Select item 14895871265.

rs1489587126 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:70142836 (GRCh38)
10:71902592 (GRCh37)
Canonical SPDI:: NC_000010.11:70142835:C:T
Gene:: TYSND1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.70142836C>T, NC_000010.10:g.71902592C>T, NM_173555.4:c.1315G>A, NM_173555.3:c.1315G>A, NR_073581.2:n.317G>A, NR_073581.1:n.357G>A, NR_073594.2:n.317G>A, NR_073594.1:n.357G>A, NR_073582.2:n.197G>A, NR_073582.1:n.237G>A, NR_073593.2:n.197G>A, NR_073593.1:n.237G>A, NR_073595.1:n.393G>A, NP_775826.2:p.Val439Met

Select item 14893033186.

rs1489303318 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:70146677 (GRCh38)
10:71906433 (GRCh37)
Canonical SPDI:: NC_000010.11:70146676:G:A
Gene:: TYSND1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000042/11 (TOPMED)
A=0.000043/6 (GnomAD)
HGVS:: NC_000010.11:g.70146677G>A, NC_000010.10:g.71906433G>A, NM_173555.4:c.-91C>T, NM_173555.3:c.-91C>T, NM_001040273.3:c.-91C>T, NM_001040273.2:c.-91C>T, NR_073581.2:n.24C>T, NR_073581.1:n.64C>T, NR_073594.2:n.24C>T, NR_073594.1:n.64C>T, NR_073582.2:n.24C>T, NR_073582.1:n.64C>T, NR_073591.2:n.24C>T, NR_073591.1:n.64C>T, NR_073593.2:n.24C>T, NR_073593.1:n.64C>T, NR_073592.2:n.24C>T, NR_073592.1:n.64C>T, NR_073580.2:n.24C>T, NR_073580.1:n.64C>T

Select item 14892433877.

rs1489243387 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:70147177 (GRCh38)
10:71906933 (GRCh37)
Canonical SPDI:: NC_000010.11:70147176:C:G
Gene:: SAR1A (Varview), TYSND1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.70147177C>G, NC_000010.10:g.71906933C>G

Select item 14889152588.

rs1488915258 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:70146183 (GRCh38)
10:71905939 (GRCh37)
Canonical SPDI:: NC_000010.11:70146182:A:T
Gene:: TYSND1 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.70146183A>T, NC_000010.10:g.71905939A>T, NM_173555.4:c.404T>A, NM_173555.3:c.404T>A, NM_001040273.3:c.404T>A, NM_001040273.2:c.404T>A, NP_775826.2:p.Leu135Gln, NP_001035363.1:p.Leu135Gln

Select item 14888582139.

rs1488858213 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:70144059 (GRCh38)
10:71903815 (GRCh37)
Canonical SPDI:: NC_000010.11:70144058:G:A
Gene:: TYSND1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.70144059G>A, NC_000010.10:g.71903815G>A

Select item 148884312310.

rs1488843123 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:70146938 (GRCh38)
10:71906694 (GRCh37)
Canonical SPDI:: NC_000010.11:70146937:G:A
Gene:: SAR1A (Varview), TYSND1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.70146938G>A, NC_000010.10:g.71906694G>A

Select item 148877148611.

rs1488771486 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:70145975 (GRCh38)
10:71905731 (GRCh37)
Canonical SPDI:: NC_000010.11:70145974:G:A
Gene:: TYSND1 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.70145975G>A, NC_000010.10:g.71905731G>A, NM_173555.4:c.612C>T, NM_173555.3:c.612C>T, NM_001040273.3:c.612C>T, NM_001040273.2:c.612C>T

Select item 148841730112.

rs1488417301 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 10:70140103 (GRCh38)
10:71899859 (GRCh37)
Canonical SPDI:: NC_000010.11:70140102:CCCCC:CCCC,NC_000010.11:70140102:CCCCC:CCCCCC
Gene:: TYSND1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.70140107del, NC_000010.11:g.70140107dup, NC_000010.10:g.71899863del, NC_000010.10:g.71899863dup, NM_173555.4:c.1522del, NM_173555.4:c.1522dup, NM_173555.3:c.1522del, NM_173555.3:c.1522dup, NM_001040273.3:c.*8del, NM_001040273.3:c.*8dup, NM_001040273.2:c.*8del, NM_001040273.2:c.*8dup, NR_073581.2:n.524del, NR_073581.2:n.524dup, NR_073581.1:n.564del, NR_073581.1:n.564dup, NR_073594.2:n.427del, NR_073594.2:n.427dup, NR_073594.1:n.467del, NR_073594.1:n.467dup, NR_073582.2:n.404del, NR_073582.2:n.404dup, NR_073582.1:n.444del, NR_073582.1:n.444dup, NR_073591.2:n.315del, NR_073591.2:n.315dup, NR_073591.1:n.355del, NR_073591.1:n.355dup, NR_073593.2:n.307del, NR_073593.2:n.307dup, NR_073593.1:n.347del, NR_073593.1:n.347dup, NR_073592.2:n.207del, NR_073592.2:n.207dup, NR_073592.1:n.247del, NR_073592.1:n.247dup, NR_073580.2:n.87del, NR_073580.2:n.87dup, NR_073580.1:n.127del, NR_073580.1:n.127dup, NR_073595.1:n.600del, NR_073595.1:n.600dup, NP_775826.2:p.Ala508fs, NP_775826.2:p.Ala508fs

Select item 148786182013.

rs1487861820 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAC>- [Show Flanks]
Chromosome:: 10:70147441 (GRCh38)
10:71907197 (GRCh37)
Canonical SPDI:: NC_000010.11:70147438:ACAAC:AC
Gene:: SAR1A (Varview), TYSND1 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.70147441_70147443del, NC_000010.10:g.71907197_71907199del, NM_020150.5:c.*5035_*5037del, NM_001142648.2:c.*5035_*5037del

Select item 148782769114.

rs1487827691 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:70148196 (GRCh38)
10:71907952 (GRCh37)
Canonical SPDI:: NC_000010.11:70148195:G:T
Gene:: SAR1A (Varview), TYSND1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.70148196G>T, NC_000010.10:g.71907952G>T, NM_020150.5:c.*4280C>A, NM_001142648.2:c.*4280C>A

Select item 148746227515.

rs1487462275 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTT>- [Show Flanks]
Chromosome:: 10:70140384 (GRCh38)
10:71900140 (GRCh37)
Canonical SPDI:: NC_000010.11:70140381:TTGTT:TT
Gene:: TYSND1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000010.11:g.70140384_70140386del, NC_000010.10:g.71900140_71900142del

Select item 148736024116.

rs1487360241 has merged into rs34072247 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:70141253 (GRCh38)
10:71901009 (GRCh37)
Canonical SPDI:: NC_000010.11:70141239:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:70141239:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:70141239:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:70141239:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:70141239:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:70141239:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:70141239:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:70141239:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:70141239:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TYSND1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.0529/204 (ALSPAC)
-=0.3872/1939 (1000Genomes)
HGVS:: NC_000010.11:g.70141253_70141257del, NC_000010.11:g.70141254_70141257del, NC_000010.11:g.70141255_70141257del, NC_000010.11:g.70141256_70141257del, NC_000010.11:g.70141257del, NC_000010.11:g.70141257dup, NC_000010.11:g.70141256_70141257dup, NC_000010.11:g.70141255_70141257dup, NC_000010.11:g.70141251_70141257dup, NC_000010.10:g.71901009_71901013del, NC_000010.10:g.71901010_71901013del, NC_000010.10:g.71901011_71901013del, NC_000010.10:g.71901012_71901013del, NC_000010.10:g.71901013del, NC_000010.10:g.71901013dup, NC_000010.10:g.71901012_71901013dup, NC_000010.10:g.71901011_71901013dup, NC_000010.10:g.71901007_71901013dup

Select item 148735132517.

rs1487351325 has merged into rs571232537 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 10:70147556 (GRCh38)
10:71907312 (GRCh37)
Canonical SPDI:: NC_000010.11:70147551:TTTTTT:TTTT,NC_000010.11:70147551:TTTTTT:TTTTT,NC_000010.11:70147551:TTTTTT:TTTTTTT
Gene:: SAR1A (Varview), TYSND1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
T=0.00078/4 (1000Genomes)
HGVS:: NC_000010.11:g.70147556_70147557del, NC_000010.11:g.70147557del, NC_000010.11:g.70147557dup, NC_000010.10:g.71907312_71907313del, NC_000010.10:g.71907313del, NC_000010.10:g.71907313dup, NM_020150.5:c.*4923_*4924del, NM_020150.5:c.*4924del, NM_020150.5:c.*4924dup, NM_001142648.2:c.*4923_*4924del, NM_001142648.2:c.*4924del, NM_001142648.2:c.*4924dup

Select item 148688201618.

rs1486882016 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:70147792 (GRCh38)
10:71907548 (GRCh37)
Canonical SPDI:: NC_000010.11:70147791:T:C
Gene:: SAR1A (Varview), TYSND1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.70147792T>C, NC_000010.10:g.71907548T>C, NM_020150.5:c.*4684A>G, NM_001142648.2:c.*4684A>G

Select item 148685168119.

rs1486851681 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:70145859 (GRCh38)
10:71905615 (GRCh37)
Canonical SPDI:: NC_000010.11:70145858:A:T
Gene:: TYSND1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_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_exomes)
HGVS:: NC_000010.11:g.70145859A>T, NC_000010.10:g.71905615A>T, NM_173555.4:c.728T>A, NM_173555.3:c.728T>A, NM_001040273.3:c.728T>A, NM_001040273.2:c.728T>A, NP_775826.2:p.Leu243His, NP_001035363.1:p.Leu243His

Select item 148678023420.

rs1486780234 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:70145798 (GRCh38)
10:71905554 (GRCh37)
Canonical SPDI:: NC_000010.11:70145797:G:A,NC_000010.11:70145797:G:T
Gene:: TYSND1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.70145798G>A, NC_000010.11:g.70145798G>T, NC_000010.10:g.71905554G>A, NC_000010.10:g.71905554G>T, NM_173555.4:c.789C>T, NM_173555.4:c.789C>A, NM_173555.3:c.789C>T, NM_173555.3:c.789C>A, NM_001040273.3:c.789C>T, NM_001040273.3:c.789C>A, NM_001040273.2:c.789C>T, NM_001040273.2:c.789C>A

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