SNP Links for Gene (Select 2837) - SNP

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Select item 14908897831.

rs1490889783 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 17:82374777 (GRCh38)
17:80332653 (GRCh37)
Canonical SPDI:: NC_000017.11:82374776:G:C,NC_000017.11:82374776:G:T
Gene:: UTS2R (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.82374777G>C, NC_000017.11:g.82374777G>T, NC_000017.10:g.80332653G>C, NC_000017.10:g.80332653G>T, NM_018949.3:c.453G>C, NM_018949.3:c.453G>T, NM_018949.2:c.453G>C, NM_018949.2:c.453G>T, NM_018949.1:c.453G>C, NM_018949.1:c.453G>T, XM_047435758.1:c.453G>C, XM_047435758.1:c.453G>T, NM_001381897.1:c.453G>C, NM_001381897.1:c.453G>T

Select item 14902799072.

rs1490279907 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:82375506 (GRCh38)
17:80333382 (GRCh37)
Canonical SPDI:: NC_000017.11:82375505:G:A
Gene:: UTS2R (Varview)
Functional Consequence:: 3_prime_UTR_variant
HGVS:: NC_000017.11:g.82375506G>A, NC_000017.10:g.80333382G>A, NM_018949.3:c.*12G>A, NM_018949.2:c.*12G>A, XM_047435758.1:c.*12G>A, NM_001381897.1:c.*12G>A

Select item 14898236823.

rs1489823682 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:82375349 (GRCh38)
17:80333225 (GRCh37)
Canonical SPDI:: NC_000017.11:82375348:T:C
Gene:: UTS2R (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000023/6 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000017.11:g.82375349T>C, NC_000017.10:g.80333225T>C, NM_018949.3:c.1025T>C, NM_018949.2:c.1025T>C, NM_018949.1:c.1025T>C, XM_047435758.1:c.1025T>C, NM_001381897.1:c.1025T>C, NP_061822.1:p.Val342Ala, XP_047291714.1:p.Val342Ala, NP_001368826.1:p.Val342Ala

Select item 14892515994.

rs1489251599 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:82375786 (GRCh38)
17:80333662 (GRCh37)
Canonical SPDI:: NC_000017.11:82375785:G:A
Gene:: UTS2R (Varview)
Functional Consequence:: 3_prime_UTR_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_000017.11:g.82375786G>A, NC_000017.10:g.80333662G>A, NM_018949.3:c.*292G>A, XM_047435758.1:c.*292G>A, NM_001381897.1:c.*292G>A

Select item 14887473825.

rs1488747382 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:82373186 (GRCh38)
17:80331062 (GRCh37)
Canonical SPDI:: NC_000017.11:82373185:C:T
Gene:: UTS2R (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.82373186C>T, NC_000017.10:g.80331062C>T

Select item 14874605356.

rs1487460535 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:82375461 (GRCh38)
17:80333337 (GRCh37)
Canonical SPDI:: NC_000017.11:82375460:A:G
Gene:: UTS2R (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000017.11:g.82375461A>G, NC_000017.10:g.80333337A>G, NM_018949.3:c.1137A>G, NM_018949.2:c.1137A>G, NM_018949.1:c.1137A>G, XM_047435758.1:c.1137A>G, NM_001381897.1:c.1137A>G

Select item 14872174797.

rs1487217479 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:82374523 (GRCh38)
17:80332399 (GRCh37)
Canonical SPDI:: NC_000017.11:82374522:G:A
Gene:: UTS2R (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.82374523G>A, NC_000017.10:g.80332399G>A, NM_018949.3:c.199G>A, NM_018949.2:c.199G>A, NM_018949.1:c.199G>A, XM_047435758.1:c.199G>A, NM_001381897.1:c.199G>A, NP_061822.1:p.Val67Met, XP_047291714.1:p.Val67Met, NP_001368826.1:p.Val67Met

Select item 14864500078.

rs1486450007 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:82375599 (GRCh38)
17:80333475 (GRCh37)
Canonical SPDI:: NC_000017.11:82375598:G:A
Gene:: UTS2R (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.82375599G>A, NC_000017.10:g.80333475G>A, NM_018949.3:c.*105G>A, XM_047435758.1:c.*105G>A, NM_001381897.1:c.*105G>A

Select item 14862956329.

rs1486295632 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:82375229 (GRCh38)
17:80333105 (GRCh37)
Canonical SPDI:: NC_000017.11:82375228:G:A,NC_000017.11:82375228:G:T
Gene:: UTS2R (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.82375229G>A, NC_000017.11:g.82375229G>T, NC_000017.10:g.80333105G>A, NC_000017.10:g.80333105G>T, NM_018949.3:c.905G>A, NM_018949.3:c.905G>T, NM_018949.2:c.905G>A, NM_018949.2:c.905G>T, NM_018949.1:c.905G>A, NM_018949.1:c.905G>T, XM_047435758.1:c.905G>A, XM_047435758.1:c.905G>T, NM_001381897.1:c.905G>A, NM_001381897.1:c.905G>T, NP_061822.1:p.Cys302Tyr, NP_061822.1:p.Cys302Phe, XP_047291714.1:p.Cys302Tyr, XP_047291714.1:p.Cys302Phe, NP_001368826.1:p.Cys302Tyr, NP_001368826.1:p.Cys302Phe

Select item 148558787910.

rs1485587879 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:82375178 (GRCh38)
17:80333054 (GRCh37)
Canonical SPDI:: NC_000017.11:82375177:A:G
Gene:: UTS2R (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.82375178A>G, NC_000017.10:g.80333054A>G, NM_018949.3:c.854A>G, NM_018949.2:c.854A>G, NM_018949.1:c.854A>G, XM_047435758.1:c.854A>G, NM_001381897.1:c.854A>G, NP_061822.1:p.Gln285Arg, XP_047291714.1:p.Gln285Arg, NP_001368826.1:p.Gln285Arg

Select item 148544407811.

rs1485444078 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:82373174 (GRCh38)
17:80331050 (GRCh37)
Canonical SPDI:: NC_000017.11:82373173:G:A,NC_000017.11:82373173:G:T
Gene:: UTS2R (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000132/2 (ALFA)
A=0.000004/1 (TOPMED)
T=0.00067/3 (Estonian)
HGVS:: NC_000017.11:g.82373174G>A, NC_000017.11:g.82373174G>T, NC_000017.10:g.80331050G>A, NC_000017.10:g.80331050G>T

Select item 148437817212.

rs1484378172 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:82374488 (GRCh38)
17:80332364 (GRCh37)
Canonical SPDI:: NC_000017.11:82374487:G:A
Gene:: UTS2R (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000023/6 (TOPMED)
HGVS:: NC_000017.11:g.82374488G>A, NC_000017.10:g.80332364G>A, NM_018949.3:c.164G>A, NM_018949.2:c.164G>A, NM_018949.1:c.164G>A, XM_047435758.1:c.164G>A, NM_001381897.1:c.164G>A, NP_061822.1:p.Gly55Glu, XP_047291714.1:p.Gly55Glu, NP_001368826.1:p.Gly55Glu

Select item 148428261413.

rs1484282614 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:82375570 (GRCh38)
17:80333446 (GRCh37)
Canonical SPDI:: NC_000017.11:82375569:T:C
Gene:: UTS2R (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.82375570T>C, NC_000017.10:g.80333446T>C, NM_018949.3:c.*76T>C, NM_018949.2:c.*76T>C, XM_047435758.1:c.*76T>C, NM_001381897.1:c.*76T>C

Select item 148420147514.

rs1484201475 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:82372434 (GRCh38)
17:80330310 (GRCh37)
Canonical SPDI:: NC_000017.11:82372433:G:A
Gene:: UTS2R (Varview)
Functional Consequence:: 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_000017.11:g.82372434G>A, NC_000017.10:g.80330310G>A, XM_047435758.1:c.-432G>A

Select item 148382385915.

rs1483823859 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:82372995 (GRCh38)
17:80330871 (GRCh37)
Canonical SPDI:: NC_000017.11:82372994:C:T
Gene:: UTS2R (Varview)
Functional Consequence:: intron_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_000017.11:g.82372995C>T, NC_000017.10:g.80330871C>T

Select item 148262773016.

rs1482627730 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:82372675 (GRCh38)
17:80330551 (GRCh37)
Canonical SPDI:: NC_000017.11:82372674:G:T
Gene:: UTS2R (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.82372675G>T, NC_000017.10:g.80330551G>T, NM_018949.3:c.-191G>T, XM_047435758.1:c.-191G>T

Select item 148254975217.

rs1482549752 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:82374527 (GRCh38)
17:80332403 (GRCh37)
Canonical SPDI:: NC_000017.11:82374526:G:A
Gene:: UTS2R (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000017.11:g.82374527G>A, NC_000017.10:g.80332403G>A, NM_018949.3:c.203G>A, NM_018949.2:c.203G>A, NM_018949.1:c.203G>A, XM_047435758.1:c.203G>A, NM_001381897.1:c.203G>A, NP_061822.1:p.Gly68Asp, XP_047291714.1:p.Gly68Asp, NP_001368826.1:p.Gly68Asp

Select item 148182403618.

rs1481824036 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:82375101 (GRCh38)
17:80332977 (GRCh37)
Canonical SPDI:: NC_000017.11:82375100:G:C
Gene:: UTS2R (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.00003/8 (TOPMED)
C=0.000048/3 (GnomAD_exomes)
HGVS:: NC_000017.11:g.82375101G>C, NC_000017.10:g.80332977G>C, NM_018949.3:c.777G>C, NM_018949.2:c.777G>C, NM_018949.1:c.777G>C, XM_047435758.1:c.777G>C, NM_001381897.1:c.777G>C

Select item 148161276619.

rs1481612766 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:82372319 (GRCh38)
17:80330195 (GRCh37)
Canonical SPDI:: NC_000017.11:82372318:C:G,NC_000017.11:82372318:C:T
Gene:: UTS2R (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000017.11:g.82372319C>G, NC_000017.11:g.82372319C>T, NC_000017.10:g.80330195C>G, NC_000017.10:g.80330195C>T, XM_047435758.1:c.-547C>G, XM_047435758.1:c.-547C>T

Select item 148128110420.

rs1481281104 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:82374728 (GRCh38)
17:80332604 (GRCh37)
Canonical SPDI:: NC_000017.11:82374727:A:T
Gene:: UTS2R (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.82374728A>T, NC_000017.10:g.80332604A>T, NM_018949.3:c.404A>T, NM_018949.2:c.404A>T, NM_018949.1:c.404A>T, XM_047435758.1:c.404A>T, NM_001381897.1:c.404A>T, NP_061822.1:p.His135Leu, XP_047291714.1:p.His135Leu, NP_001368826.1:p.His135Leu

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