SNP Links for Gene (Select 83590) - SNP

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Select item 14897190501.

rs1489719050 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:151081539 (GRCh38)
7:150778626 (GRCh37)
Canonical SPDI:: NC_000007.14:151081538:C:G
Gene:: FASTK (Varview), TMUB1 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.151081539C>G, NC_000007.13:g.150778626C>G, NG_053086.1:g.709C>G, NM_031434.4:c.*10G>C, NM_031434.3:c.*10G>C, NM_001136044.2:c.*10G>C, NM_001136044.1:c.*10G>C

Select item 14890310012.

rs1489031001 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:151083311 (GRCh38)
7:150780398 (GRCh37)
Canonical SPDI:: NC_000007.14:151083310:A:C
Gene:: TMUB1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.01512/247 (ALFA)
A=0./0 (SGDP_PRJ)
C=0.00032/9 (TOMMO)
C=0.00246/11 (Estonian)
C=0.05315/152 (KOREAN)
HGVS:: NC_000007.14:g.151083311A>C, NC_000007.13:g.150780398A>C, NG_053086.1:g.2481A>C, NM_031434.3:c.-578T>G

Select item 14883264673.

rs1488326467 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:151084787 (GRCh38)
7:150781874 (GRCh37)
Canonical SPDI:: NC_000007.14:151084786:C:A,NC_000007.14:151084786:C:T
Gene:: TMUB1 (Varview), AGAP3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000091/24 (TOPMED)
T=0.000283/5 (TOMMO)
T=0.000312/2 (1000Genomes)
T=0.001027/3 (KOREAN)
T=0.001092/2 (Korea1K)
HGVS:: NC_000007.14:g.151084787C>A, NC_000007.14:g.151084787C>T, NC_000007.13:g.150781874C>A, NC_000007.13:g.150781874C>T, NG_053086.1:g.3957C>A, NG_053086.1:g.3957C>T

Select item 14868937074.

rs1486893707 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:151081750 (GRCh38)
7:150778837 (GRCh37)
Canonical SPDI:: NC_000007.14:151081749:G:A,NC_000007.14:151081749:G:T
Gene:: FASTK (Varview), TMUB1 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
HGVS:: NC_000007.14:g.151081750G>A, NC_000007.14:g.151081750G>T, NC_000007.13:g.150778837G>A, NC_000007.13:g.150778837G>T, NG_053086.1:g.920G>A, NG_053086.1:g.920G>T, NG_075766.1:g.29G>A, NG_075766.1:g.29G>T, NM_031434.4:c.540C>T, NM_031434.4:c.540C>A, NM_031434.3:c.540C>T, NM_031434.3:c.540C>A, NM_001136044.2:c.540C>T, NM_001136044.2:c.540C>A, NM_001136044.1:c.540C>T, NM_001136044.1:c.540C>A

Select item 14864602365.

rs1486460236 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 7:151080753 (GRCh38)
7:150777840 (GRCh37)
Canonical SPDI:: NC_000007.14:151080752:C:A,NC_000007.14:151080752:C:G,NC_000007.14:151080752:C:T
Gene:: FASTK (Varview), TMUB1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,downstream_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.151080753C>A, NC_000007.14:g.151080753C>G, NC_000007.14:g.151080753C>T, NC_000007.13:g.150777840C>A, NC_000007.13:g.150777840C>G, NC_000007.13:g.150777840C>T, NM_006712.5:c.14G>T, NM_006712.5:c.14G>C, NM_006712.5:c.14G>A, NM_006712.4:c.14G>T, NM_006712.4:c.14G>C, NM_006712.4:c.14G>A, XM_011515761.4:c.14G>T, XM_011515761.4:c.14G>C, XM_011515761.4:c.14G>A, XM_011515761.3:c.14G>T, XM_011515761.3:c.14G>C, XM_011515761.3:c.14G>A, XM_011515761.2:c.14G>T, XM_011515761.2:c.14G>C, XM_011515761.2:c.14G>A, XM_011515761.1:c.14G>T, XM_011515761.1:c.14G>C, XM_011515761.1:c.14G>A, XM_011515762.4:c.14G>T, XM_011515762.4:c.14G>C, XM_011515762.4:c.14G>A, XM_011515762.3:c.14G>T, XM_011515762.3:c.14G>C, XM_011515762.3:c.14G>A, XM_011515762.2:c.14G>T, XM_011515762.2:c.14G>C, XM_011515762.2:c.14G>A, XM_011515762.1:c.14G>T, XM_011515762.1:c.14G>C, XM_011515762.1:c.14G>A, NM_033015.4:c.14G>T, NM_033015.4:c.14G>C, NM_033015.4:c.14G>A, NM_033015.3:c.14G>T, NM_033015.3:c.14G>C, NM_033015.3:c.14G>A, XM_017011705.3:c.14G>T, XM_017011705.3:c.14G>C, XM_017011705.3:c.14G>A, XM_017011705.2:c.14G>T, XM_017011705.2:c.14G>C, XM_017011705.2:c.14G>A, XM_017011705.1:c.14G>T, XM_017011705.1:c.14G>C, XM_017011705.1:c.14G>A, NM_001258461.2:c.14G>T, NM_001258461.2:c.14G>C, NM_001258461.2:c.14G>A, NM_001258461.1:c.14G>T, NM_001258461.1:c.14G>C, NM_001258461.1:c.14G>A, XM_011515763.2:c.14G>T, XM_011515763.2:c.14G>C, XM_011515763.2:c.14G>A, XM_011515763.1:c.14G>T, XM_011515763.1:c.14G>C, XM_011515763.1:c.14G>A, NM_025096.1:c.-565G>T, NM_025096.1:c.-565G>C, NM_025096.1:c.-565G>A, XM_047419830.1:c.-851G>T, XM_047419830.1:c.-851G>C, XM_047419830.1:c.-851G>A, XM_047419828.1:c.14G>T, XM_047419828.1:c.14G>C, XM_047419828.1:c.14G>A, XM_047419831.1:c.14G>T, XM_047419831.1:c.14G>C, XM_047419831.1:c.14G>A, NP_006703.1:p.Arg5Leu, NP_006703.1:p.Arg5Pro, NP_006703.1:p.Arg5Gln, XP_011514063.1:p.Arg5Leu, XP_011514063.1:p.Arg5Pro, XP_011514063.1:p.Arg5Gln, XP_011514064.1:p.Arg5Leu, XP_011514064.1:p.Arg5Pro, XP_011514064.1:p.Arg5Gln, NP_148936.2:p.Arg5Leu, NP_148936.2:p.Arg5Pro, NP_148936.2:p.Arg5Gln, XP_016867194.1:p.Arg5Leu, XP_016867194.1:p.Arg5Pro, XP_016867194.1:p.Arg5Gln, NP_001245390.1:p.Arg5Leu, NP_001245390.1:p.Arg5Pro, NP_001245390.1:p.Arg5Gln, XP_011514065.1:p.Arg5Leu, XP_011514065.1:p.Arg5Pro, XP_011514065.1:p.Arg5Gln, XP_047275784.1:p.Arg5Leu, XP_047275784.1:p.Arg5Pro, XP_047275784.1:p.Arg5Gln, XP_047275787.1:p.Arg5Leu, XP_047275787.1:p.Arg5Pro, XP_047275787.1:p.Arg5Gln

Select item 14853658406.

rs1485365840 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:151084727 (GRCh38)
7:150781814 (GRCh37)
Canonical SPDI:: NC_000007.14:151084726:G:C
Gene:: TMUB1 (Varview), AGAP3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000007.14:g.151084727G>C, NC_000007.13:g.150781814G>C, NG_053086.1:g.3897G>C

Select item 14853450907.

rs1485345090 [Homo sapiens]

Variant type:: DEL
Alleles:: ACTA>- [Show Flanks]
Chromosome:: 7:151084885 (GRCh38)
7:150781972 (GRCh37)
Canonical SPDI:: NC_000007.14:151084884:ACTA:
Gene:: TMUB1 (Varview), AGAP3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.151084885_151084888del, NC_000007.13:g.150781972_150781975del, NG_053086.1:g.4055_4058del

Select item 14847537668.

rs1484753766 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:151084634 (GRCh38)
7:150781721 (GRCh37)
Canonical SPDI:: NC_000007.14:151084633:A:C
Gene:: TMUB1 (Varview), AGAP3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.151084634A>C, NC_000007.13:g.150781721A>C, NG_053086.1:g.3804A>C

Select item 14834358619.

rs1483435861 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:151081964 (GRCh38)
7:150779051 (GRCh37)
Canonical SPDI:: NC_000007.14:151081963:A:G
Gene:: FASTK (Varview), TMUB1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
G=0.000036/5 (GnomAD)
HGVS:: NC_000007.14:g.151081964A>G, NC_000007.13:g.150779051A>G, NG_053086.1:g.1134A>G, NG_075766.1:g.243A>G

Select item 148233708610.

rs1482337086 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:151082568 (GRCh38)
7:150779655 (GRCh37)
Canonical SPDI:: NC_000007.14:151082567:C:A,NC_000007.14:151082567:C:T
Gene:: FASTK (Varview), TMUB1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
A=0.000035/1 (TOMMO)
T=0.000043/6 (GnomAD)
HGVS:: NC_000007.14:g.151082568C>A, NC_000007.14:g.151082568C>T, NC_000007.13:g.150779655C>A, NC_000007.13:g.150779655C>T, NG_053086.1:g.1738C>A, NG_053086.1:g.1738C>T, NM_031434.4:c.-5G>T, NM_031434.4:c.-5G>A, NM_031434.3:c.-5G>T, NM_031434.3:c.-5G>A, NM_001136044.2:c.-5G>T, NM_001136044.2:c.-5G>A, NM_001136044.1:c.-5G>T, NM_001136044.1:c.-5G>A

Select item 148220454611.

rs1482204546 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:151081278 (GRCh38)
7:150778365 (GRCh37)
Canonical SPDI:: NC_000007.14:151081277:C:T
Gene:: FASTK (Varview), TMUB1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.151081278C>T, NC_000007.13:g.150778365C>T, NG_053086.1:g.448C>T, NM_031434.4:c.*271G>A, NM_031434.3:c.*271G>A, NM_001136044.2:c.*271G>A, NM_001136044.1:c.*271G>A

Select item 148215234812.

rs1482152348 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 7:151083052 (GRCh38)
7:150780139 (GRCh37)
Canonical SPDI:: NC_000007.14:151083051:CCCCCC:CCCCC
Gene:: TMUB1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CCCCC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.151083057del, NC_000007.13:g.150780144del, NG_053086.1:g.2227del, NM_031434.3:c.-319del

Select item 148146467413.

rs1481464674 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:151081606 (GRCh38)
7:150778693 (GRCh37)
Canonical SPDI:: NC_000007.14:151081605:G:A
Gene:: FASTK (Varview), TMUB1 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000013/3 (GnomAD_exomes)
HGVS:: NC_000007.14:g.151081606G>A, NC_000007.13:g.150778693G>A, NG_053086.1:g.776G>A, NM_031434.4:c.684C>T, NM_031434.3:c.684C>T, NM_001136044.2:c.684C>T, NM_001136044.1:c.684C>T

Select item 148126707114.

rs1481267071 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:151080608 (GRCh38)
7:150777695 (GRCh37)
Canonical SPDI:: NC_000007.14:151080607:C:G
Gene:: FASTK (Varview), TMUB1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.151080608C>G, NC_000007.13:g.150777695C>G, XM_005249932.2:c.-192G>C, XM_005249932.1:c.-192G>C, NM_025096.1:c.-420G>C, XM_047419830.1:c.-706G>C

Select item 148028369115.

rs1480283691 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:151080893 (GRCh38)
7:150777980 (GRCh37)
Canonical SPDI:: NC_000007.14:151080892:A:T
Gene:: FASTK (Varview), TMUB1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.151080893A>T, NC_000007.13:g.150777980A>T, NG_053086.1:g.63A>T

Select item 147973313416.

rs1479733134 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 7:151084841 (GRCh38)
7:150781928 (GRCh37)
Canonical SPDI:: NC_000007.14:151084840:TT:
Gene:: TMUB1 (Varview), AGAP3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD)
-=0.00011/3 (TOMMO)
HGVS:: NC_000007.14:g.151084841_151084842del, NC_000007.13:g.150781928_150781929del, NG_053086.1:g.4011_4012del

Select item 147941858417.

rs1479418584 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:151082279 (GRCh38)
7:150779366 (GRCh37)
Canonical SPDI:: NC_000007.14:151082278:G:C
Gene:: FASTK (Varview), TMUB1 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.151082279G>C, NC_000007.13:g.150779366G>C, NG_053086.1:g.1449G>C, NM_031434.4:c.285C>G, NM_031434.3:c.285C>G, NM_001136044.2:c.285C>G, NM_001136044.1:c.285C>G

Select item 147938935518.

rs1479389355 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:151083058 (GRCh38)
7:150780145 (GRCh37)
Canonical SPDI:: NC_000007.14:151083057:G:C
Gene:: TMUB1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.01791/271 (ALFA)
C=0.02362/392 (TOMMO)
C=0.03773/67 (Korea1K)
C=0.06477/189 (KOREAN)
HGVS:: NC_000007.14:g.151083058G>C, NC_000007.13:g.150780145G>C, NG_053086.1:g.2228G>C, NM_031434.3:c.-325C>G

Select item 147928160119.

rs1479281601 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:151080775 (GRCh38)
7:150777862 (GRCh37)
Canonical SPDI:: NC_000007.14:151080774:C:A
Gene:: FASTK (Varview), TMUB1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
HGVS:: NC_000007.14:g.151080775C>A, NC_000007.13:g.150777862C>A, NM_006712.5:c.-9G>T, NM_006712.4:c.-9G>T, XM_011515761.4:c.-9G>T, XM_011515761.3:c.-9G>T, XM_011515761.2:c.-9G>T, XM_011515761.1:c.-9G>T, XM_011515762.4:c.-9G>T, XM_011515762.3:c.-9G>T, XM_011515762.2:c.-9G>T, XM_011515762.1:c.-9G>T, NM_033015.4:c.-9G>T, NM_033015.3:c.-9G>T, XM_017011705.3:c.-9G>T, XM_017011705.2:c.-9G>T, XM_017011705.1:c.-9G>T, NM_001258461.2:c.-9G>T, NM_001258461.1:c.-9G>T, XM_011515763.2:c.-9G>T, XM_011515763.1:c.-9G>T, NM_025096.1:c.-587G>T, XM_047419830.1:c.-873G>T, XM_047419828.1:c.-9G>T, XM_047419831.1:c.-9G>T

Select item 147883891520.

rs1478838915 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:151083320 (GRCh38)
7:150780407 (GRCh37)
Canonical SPDI:: NC_000007.14:151083319:T:C
Gene:: TMUB1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.027/78 (KOREAN)
HGVS:: NC_000007.14:g.151083320T>C, NC_000007.13:g.150780407T>C, NG_053086.1:g.2490T>C, NM_031434.3:c.-587A>G

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