SNP Links for Protein (Select 768025066) - SNP

Links from Protein

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Select item 14905471091.

rs1490547109 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:24510782 (GRCh38)
22:24906750 (GRCh37)
Canonical SPDI:: NC_000022.11:24510781:T:G
Gene:: UPB1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000045/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.24510782T>G, NC_000022.10:g.24906750T>G, NG_012858.2:g.20500T>G, NM_016327.3:c.398T>G, NM_016327.2:c.398T>G, XM_011530223.3:c.479T>G, XM_011530223.2:c.479T>G, XM_011530223.1:c.479T>G, XR_001755249.2:n.551T>G, XR_001755249.1:n.823T>G, XM_047441404.1:c.479T>G, XM_047441405.1:c.479T>G, NP_057411.1:p.Leu133Arg, XP_011528525.1:p.Leu160Arg, XP_047297360.1:p.Leu160Arg, XP_047297361.1:p.Leu160Arg

Select item 14904859542.

rs1490485954 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:24495423 (GRCh38)
22:24891391 (GRCh37)
Canonical SPDI:: NC_000022.11:24495422:A:G
Gene:: UPB1 (Varview), ADORA2A-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.24495423A>G, NC_000022.10:g.24891391A>G, NG_012858.2:g.5141A>G, NM_016327.3:c.20A>G, NM_016327.2:c.20A>G, XM_011530223.3:c.20A>G, XM_011530223.2:c.20A>G, XM_011530223.1:c.20A>G, XR_001755249.2:n.92A>G, XR_001755249.1:n.364A>G, XM_047441404.1:c.20A>G, XM_047441405.1:c.20A>G, NP_057411.1:p.Lys7Arg, XP_011528525.1:p.Lys7Arg, XP_047297360.1:p.Lys7Arg, XP_047297361.1:p.Lys7Arg

Select item 14803529613.

rs1480352961 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:24513421 (GRCh38)
22:24909389 (GRCh37)
Canonical SPDI:: NC_000022.11:24513420:A:G
Gene:: UPB1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.24513421A>G, NC_000022.10:g.24909389A>G, NG_012858.2:g.23139A>G, NM_016327.3:c.557A>G, NM_016327.2:c.557A>G, XM_011530223.3:c.638A>G, XM_011530223.2:c.638A>G, XM_011530223.1:c.638A>G, XR_001755249.2:n.710A>G, XR_001755249.1:n.982A>G, XM_047441404.1:c.638A>G, XM_047441405.1:c.638A>G, NP_057411.1:p.Asn186Ser, XP_011528525.1:p.Asn213Ser, XP_047297360.1:p.Asn213Ser, XP_047297361.1:p.Asn213Ser

Select item 14800477244.

rs1480047724 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 22:24513398 (GRCh38)
22:24909366 (GRCh37)
Canonical SPDI:: NC_000022.11:24513397:GA:
Gene:: UPB1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,inframe_indel,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.24513398_24513399del, NC_000022.10:g.24909366_24909367del, NG_012858.2:g.23116_23117del, NM_016327.3:c.534_535del, NM_016327.2:c.534_535del, XM_011530223.3:c.615_616del, XM_011530223.2:c.615_616del, XM_011530223.1:c.615_616del, XR_001755249.2:n.687_688del, XR_001755249.1:n.959_960del, XM_047441404.1:c.615_616del, XM_047441405.1:c.615_616del, NP_057411.1:p.Trp178_Asn179delinsTer, XP_011528525.1:p.Trp205_Asn206delinsTer, XP_047297360.1:p.Trp205_Asn206delinsTer, XP_047297361.1:p.Trp205_Asn206delinsTer

Select item 14790397365.

rs1479039736 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:24513429 (GRCh38)
22:24909397 (GRCh37)
Canonical SPDI:: NC_000022.11:24513428:G:A
Gene:: UPB1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.24513429G>A, NC_000022.10:g.24909397G>A, NG_012858.2:g.23147G>A, NM_016327.3:c.565G>A, NM_016327.2:c.565G>A, XM_011530223.3:c.646G>A, XM_011530223.2:c.646G>A, XM_011530223.1:c.646G>A, XR_001755249.2:n.718G>A, XR_001755249.1:n.990G>A, XM_047441404.1:c.646G>A, XM_047441405.1:c.646G>A, NP_057411.1:p.Ala189Thr, XP_011528525.1:p.Ala216Thr, XP_047297360.1:p.Ala216Thr, XP_047297361.1:p.Ala216Thr

Select item 14702511266.

rs1470251126 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:24513345 (GRCh38)
22:24909313 (GRCh37)
Canonical SPDI:: NC_000022.11:24513344:G:A
Gene:: UPB1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.24513345G>A, NC_000022.10:g.24909313G>A, NG_012858.2:g.23063G>A, NM_016327.3:c.481G>A, NM_016327.2:c.481G>A, XM_011530223.3:c.562G>A, XM_011530223.2:c.562G>A, XM_011530223.1:c.562G>A, XR_001755249.2:n.634G>A, XR_001755249.1:n.906G>A, XM_047441404.1:c.562G>A, XM_047441405.1:c.562G>A, NP_057411.1:p.Val161Met, XP_011528525.1:p.Val188Met, XP_047297360.1:p.Val188Met, XP_047297361.1:p.Val188Met

Select item 14701076037.

rs1470107603 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:24515264 (GRCh38)
22:24911232 (GRCh37)
Canonical SPDI:: NC_000022.11:24515263:G:A
Gene:: UPB1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.24515264G>A, NC_000022.10:g.24911232G>A, NG_012858.2:g.24982G>A, NM_016327.3:c.685G>A, NM_016327.2:c.685G>A, XM_011530223.3:c.766G>A, XM_011530223.2:c.766G>A, XM_011530223.1:c.766G>A, XM_047441404.1:c.766G>A, NP_057411.1:p.Ala229Thr, XP_011528525.1:p.Ala256Thr, XP_047297360.1:p.Ala256Thr

Select item 14602529928.

rs1460252992 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:24500234 (GRCh38)
22:24896202 (GRCh37)
Canonical SPDI:: NC_000022.11:24500233:C:T
Gene:: UPB1 (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.24500234C>T, NC_000022.10:g.24896202C>T, NG_012858.2:g.9952C>T, NM_016327.3:c.232C>T, NM_016327.2:c.232C>T, XM_011530223.3:c.232C>T, XM_011530223.2:c.232C>T, XM_011530223.1:c.232C>T, XR_001755249.2:n.304C>T, XR_001755249.1:n.576C>T, XM_047441404.1:c.232C>T, XM_047441405.1:c.232C>T, NP_057411.1:p.Gln78Ter, XP_011528525.1:p.Gln78Ter, XP_047297360.1:p.Gln78Ter, XP_047297361.1:p.Gln78Ter

Select item 14598021149.

rs1459802114 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:24520435 (GRCh38)
22:24916403 (GRCh37)
Canonical SPDI:: NC_000022.11:24520434:C:T
Gene:: UPB1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.24520435C>T, NC_000022.10:g.24916403C>T, NG_012858.2:g.30153C>T, NM_016327.3:c.840C>T, NM_016327.2:c.840C>T, XM_011530223.3:c.921C>T, XM_011530223.2:c.921C>T, XM_011530223.1:c.921C>T, XR_001755249.2:n.823C>T, XR_001755249.1:n.1095C>T, XM_047441404.1:c.921C>T, XM_047441405.1:c.751C>T

Select item 145845835410.

rs1458458354 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 22:24495450 (GRCh38)
22:24891418 (GRCh37)
Canonical SPDI:: NC_000022.11:24495449:A:
Gene:: UPB1 (Varview), ADORA2A-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000048/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.24495450del, NC_000022.10:g.24891418del, NG_012858.2:g.5168del, NM_016327.3:c.47del, NM_016327.2:c.47del, XM_011530223.3:c.47del, XM_011530223.2:c.47del, XM_011530223.1:c.47del, XR_001755249.2:n.119del, XR_001755249.1:n.391del, XM_047441404.1:c.47del, XM_047441405.1:c.47del, NP_057411.1:p.His16fs, XP_011528525.1:p.His16fs, XP_047297360.1:p.His16fs, XP_047297361.1:p.His16fs

Select item 145595356711.

rs1455953567 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:24520423 (GRCh38)
22:24916391 (GRCh37)
Canonical SPDI:: NC_000022.11:24520422:C:T
Gene:: UPB1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.24520423C>T, NC_000022.10:g.24916391C>T, NG_012858.2:g.30141C>T, NM_016327.3:c.828C>T, NM_016327.2:c.828C>T, XM_011530223.3:c.909C>T, XM_011530223.2:c.909C>T, XM_011530223.1:c.909C>T, XR_001755249.2:n.811C>T, XR_001755249.1:n.1083C>T, XM_047441404.1:c.909C>T, XM_047441405.1:c.739C>T, XP_047297361.1:p.His247Tyr

Select item 145245772012.

rs1452457720 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:24502169 (GRCh38)
22:24898137 (GRCh37)
Canonical SPDI:: NC_000022.11:24502168:C:T
Gene:: UPB1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.24502169C>T, NC_000022.10:g.24898137C>T, NG_012858.2:g.11887C>T, NM_016327.3:c.320C>T, NM_016327.2:c.320C>T, XM_011530223.3:c.320C>T, XM_011530223.2:c.320C>T, XM_011530223.1:c.320C>T, XR_001755249.2:n.392C>T, XR_001755249.1:n.664C>T, XM_047441404.1:c.320C>T, XM_047441405.1:c.320C>T, NP_057411.1:p.Ala107Val, XP_011528525.1:p.Ala107Val, XP_047297360.1:p.Ala107Val, XP_047297361.1:p.Ala107Val

Select item 145242887213.

rs1452428872 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:24500109 (GRCh38)
22:24896077 (GRCh37)
Canonical SPDI:: NC_000022.11:24500108:A:G
Gene:: UPB1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.24500109A>G, NC_000022.10:g.24896077A>G, NG_012858.2:g.9827A>G, NM_016327.3:c.107A>G, NM_016327.2:c.107A>G, XM_011530223.3:c.107A>G, XM_011530223.2:c.107A>G, XM_011530223.1:c.107A>G, XR_001755249.2:n.179A>G, XR_001755249.1:n.451A>G, XM_047441404.1:c.107A>G, XM_047441405.1:c.107A>G, NP_057411.1:p.Lys36Arg, XP_011528525.1:p.Lys36Arg, XP_047297360.1:p.Lys36Arg, XP_047297361.1:p.Lys36Arg

Select item 145163857514.

rs1451638575 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 22:24521767 (GRCh38)
22:24917735 (GRCh37)
Canonical SPDI:: NC_000022.11:24521766:T:C,NC_000022.11:24521766:T:G
Gene:: UPB1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.24521767T>C, NC_000022.11:g.24521767T>G, NC_000022.10:g.24917735T>C, NC_000022.10:g.24917735T>G, NG_012858.2:g.31485T>C, NG_012858.2:g.31485T>G, XM_011530223.3:c.997T>C, XM_011530223.3:c.997T>G, XM_011530223.2:c.997T>C, XM_011530223.2:c.997T>G, XM_011530223.1:c.997T>C, XM_011530223.1:c.997T>G, XR_001755249.2:n.899T>C, XR_001755249.2:n.899T>G, XR_001755249.1:n.1171T>C, XR_001755249.1:n.1171T>G, XP_011528525.1:p.Leu333Val

Select item 145047297115.

rs1450472971 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:24513374 (GRCh38)
22:24909342 (GRCh37)
Canonical SPDI:: NC_000022.11:24513373:C:T
Gene:: UPB1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000022.11:g.24513374C>T, NC_000022.10:g.24909342C>T, NG_012858.2:g.23092C>T, NM_016327.3:c.510C>T, NM_016327.2:c.510C>T, XM_011530223.3:c.591C>T, XM_011530223.2:c.591C>T, XM_011530223.1:c.591C>T, XR_001755249.2:n.663C>T, XR_001755249.1:n.935C>T, XM_047441404.1:c.591C>T, XM_047441405.1:c.591C>T

Select item 144879103716.

rs1448791037 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:24500168 (GRCh38)
22:24896136 (GRCh37)
Canonical SPDI:: NC_000022.11:24500167:G:A
Gene:: UPB1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000022.11:g.24500168G>A, NC_000022.10:g.24896136G>A, NG_012858.2:g.9886G>A, NM_016327.3:c.166G>A, NM_016327.2:c.166G>A, XM_011530223.3:c.166G>A, XM_011530223.2:c.166G>A, XM_011530223.1:c.166G>A, XR_001755249.2:n.238G>A, XR_001755249.1:n.510G>A, XM_047441404.1:c.166G>A, XM_047441405.1:c.166G>A, NP_057411.1:p.Gly56Arg, XP_011528525.1:p.Gly56Arg, XP_047297360.1:p.Gly56Arg, XP_047297361.1:p.Gly56Arg

Select item 144810518817.

rs1448105188 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:24502183 (GRCh38)
22:24898151 (GRCh37)
Canonical SPDI:: NC_000022.11:24502182:G:A
Gene:: UPB1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.24502183G>A, NC_000022.10:g.24898151G>A, NG_012858.2:g.11901G>A, NM_016327.3:c.334G>A, NM_016327.2:c.334G>A, XM_011530223.3:c.334G>A, XM_011530223.2:c.334G>A, XM_011530223.1:c.334G>A, XR_001755249.2:n.406G>A, XR_001755249.1:n.678G>A, XM_047441404.1:c.334G>A, XM_047441405.1:c.334G>A, NP_057411.1:p.Val112Ile, XP_011528525.1:p.Val112Ile, XP_047297360.1:p.Val112Ile, XP_047297361.1:p.Val112Ile

Select item 144204640818.

rs1442046408 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:24503567 (GRCh38)
22:24899535 (GRCh37)
Canonical SPDI:: NC_000022.11:24503566:C:T
Gene:: UPB1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000071/1 (TOMMO)
HGVS:: NC_000022.11:g.24503567C>T, NC_000022.10:g.24899535C>T, NG_012858.2:g.13285C>T, XM_011530223.3:c.413C>T, XM_011530223.2:c.413C>T, XM_011530223.1:c.413C>T, XR_001755249.2:n.485C>T, XR_001755249.1:n.757C>T, XM_047441404.1:c.413C>T, XM_047441405.1:c.413C>T, XP_011528525.1:p.Pro138Leu, XP_047297360.1:p.Pro138Leu, XP_047297361.1:p.Pro138Leu

Select item 143955113319.

rs1439551133 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:24500143 (GRCh38)
22:24896111 (GRCh37)
Canonical SPDI:: NC_000022.11:24500142:C:G
Gene:: UPB1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.24500143C>G, NC_000022.10:g.24896111C>G, NG_012858.2:g.9861C>G, NM_016327.3:c.141C>G, NM_016327.2:c.141C>G, XM_011530223.3:c.141C>G, XM_011530223.2:c.141C>G, XM_011530223.1:c.141C>G, XR_001755249.2:n.213C>G, XR_001755249.1:n.485C>G, XM_047441404.1:c.141C>G, XM_047441405.1:c.141C>G

Select item 143448147520.

rs1434481475 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:24513353 (GRCh38)
22:24909321 (GRCh37)
Canonical SPDI:: NC_000022.11:24513352:G:A
Gene:: UPB1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.24513353G>A, NC_000022.10:g.24909321G>A, NG_012858.2:g.23071G>A, NM_016327.3:c.489G>A, NM_016327.2:c.489G>A, XM_011530223.3:c.570G>A, XM_011530223.2:c.570G>A, XM_011530223.1:c.570G>A, XR_001755249.2:n.642G>A, XR_001755249.1:n.914G>A, XM_047441404.1:c.570G>A, XM_047441405.1:c.570G>A

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