SNP Links for Protein (Select 19923272) - SNP

Links from Protein

Items: 1 to 20 of 478

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Select item 14894090441.

rs1489409044 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:180787767 (GRCh38)
1:180756903 (GRCh37)
Canonical SPDI:: NC_000001.11:180787766:A:G
Gene:: XPR1 (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=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.180787767A>G, NC_000001.10:g.180756903A>G, NG_050964.1:g.160758A>G, NM_004736.4:c.136A>G, NM_004736.3:c.136A>G, NM_001135669.2:c.136A>G, NM_001135669.1:c.136A>G, NR_137330.2:n.316A>G, NR_137330.1:n.328A>G, NM_001328662.2:c.136A>G, NM_001328662.1:c.136A>G, NP_004727.2:p.Thr46Ala, NP_001129141.1:p.Thr46Ala, NP_001315591.1:p.Thr46Ala

Select item 14887891142.

rs1488789114 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:180682372 (GRCh38)
1:180651508 (GRCh37)
Canonical SPDI:: NC_000001.11:180682371:A:G
Gene:: XPR1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.180682372A>G, NC_000001.10:g.180651508A>G, NG_050964.1:g.55363A>G, NM_004736.4:c.82A>G, NM_004736.3:c.82A>G, NM_001135669.2:c.82A>G, NM_001135669.1:c.82A>G, NR_137330.2:n.262A>G, NR_137330.1:n.274A>G, NM_001328662.2:c.82A>G, NM_001328662.1:c.82A>G, NP_004727.2:p.Met28Val, NP_001129141.1:p.Met28Val, NP_001315591.1:p.Met28Val

Select item 14886987633.

rs1488698763 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:180824852 (GRCh38)
1:180793988 (GRCh37)
Canonical SPDI:: NC_000001.11:180824851:A:G
Gene:: XPR1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.180824852A>G, NC_000001.10:g.180793988A>G, NG_050964.1:g.197843A>G, NM_004736.4:c.863A>G, NM_004736.3:c.863A>G, NM_001135669.2:c.863A>G, NM_001135669.1:c.863A>G, NR_137330.2:n.1043A>G, NR_137330.1:n.1055A>G, NM_001328662.2:c.863A>G, NM_001328662.1:c.863A>G, NP_004727.2:p.Asn288Ser, NP_001129141.1:p.Asn288Ser, NP_001315591.1:p.Asn288Ser

Select item 14869461454.

rs1486946145 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:180880146 (GRCh38)
1:180849282 (GRCh37)
Canonical SPDI:: NC_000001.11:180880145:C:T
Gene:: XPR1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.180880146C>T, NC_000001.10:g.180849282C>T, NG_050964.1:g.253137C>T, NM_004736.4:c.1879C>T, NM_004736.3:c.1879C>T, NM_001135669.2:c.1684C>T, NM_001135669.1:c.1684C>T, NR_137330.2:n.1692C>T, NR_137330.1:n.1704C>T, NP_004727.2:p.Arg627Trp, NP_001129141.1:p.Arg562Trp

Select item 14864451155.

rs1486445115 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:180803474 (GRCh38)
1:180772610 (GRCh37)
Canonical SPDI:: NC_000001.11:180803473:G:A
Gene:: XPR1 (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=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.180803474G>A, NC_000001.10:g.180772610G>A, NG_050964.1:g.176465G>A, NM_004736.4:c.310G>A, NM_004736.3:c.310G>A, NM_001135669.2:c.310G>A, NM_001135669.1:c.310G>A, NR_137330.2:n.490G>A, NR_137330.1:n.502G>A, NM_001328662.2:c.310G>A, NM_001328662.1:c.310G>A, NP_004727.2:p.Val104Ile, NP_001129141.1:p.Val104Ile, NP_001315591.1:p.Val104Ile

Select item 14863327716.

rs1486332771 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:180836688 (GRCh38)
1:180805824 (GRCh37)
Canonical SPDI:: NC_000001.11:180836687:G:A
Gene:: XPR1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.180836688G>A, NC_000001.10:g.180805824G>A, NG_050964.1:g.209679G>A, NM_004736.4:c.1473G>A, NM_004736.3:c.1473G>A, NM_001328662.2:c.1473G>A, NM_001328662.1:c.1473G>A

Select item 14836475507.

rs1483647550 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:180863772 (GRCh38)
1:180832908 (GRCh37)
Canonical SPDI:: NC_000001.11:180863771:C:G,NC_000001.11:180863771:C:T
Gene:: XPR1 (Varview), LOC124904464 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.180863772C>G, NC_000001.11:g.180863772C>T, NC_000001.10:g.180832908C>G, NC_000001.10:g.180832908C>T, NG_050964.1:g.236763C>G, NG_050964.1:g.236763C>T, NM_004736.4:c.1566C>G, NM_004736.4:c.1566C>T, NM_004736.3:c.1566C>G, NM_004736.3:c.1566C>T, NM_001135669.2:c.1371C>G, NM_001135669.2:c.1371C>T, NM_001135669.1:c.1371C>G, NM_001135669.1:c.1371C>T, NR_137330.2:n.1379C>G, NR_137330.2:n.1379C>T, NR_137330.1:n.1391C>G, NR_137330.1:n.1391C>T

Select item 14836284068.

rs1483628406 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:180836577 (GRCh38)
1:180805713 (GRCh37)
Canonical SPDI:: NC_000001.11:180836576:T:C
Gene:: XPR1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.180836577T>C, NC_000001.10:g.180805713T>C, NG_050964.1:g.209568T>C, NM_004736.4:c.1362T>C, NM_004736.3:c.1362T>C, NM_001328662.2:c.1362T>C, NM_001328662.1:c.1362T>C

Select item 14836084649.

rs1483608464 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:180880243 (GRCh38)
1:180849379 (GRCh37)
Canonical SPDI:: NC_000001.11:180880242:G:A
Gene:: XPR1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.180880243G>A, NC_000001.10:g.180849379G>A, NG_050964.1:g.253234G>A, NM_004736.4:c.1976G>A, NM_004736.3:c.1976G>A, NM_001135669.2:c.1781G>A, NM_001135669.1:c.1781G>A, NR_137330.2:n.1789G>A, NR_137330.1:n.1801G>A, NP_004727.2:p.Arg659Gln, NP_001129141.1:p.Arg594Gln

Select item 148270197010.

rs1482701970 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:180863798 (GRCh38)
1:180832934 (GRCh37)
Canonical SPDI:: NC_000001.11:180863797:A:G
Gene:: XPR1 (Varview), LOC124904464 (Varview)
Functional Consequence:: missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.180863798A>G, NC_000001.10:g.180832934A>G, NG_050964.1:g.236789A>G, NM_004736.4:c.1592A>G, NM_004736.3:c.1592A>G, NM_001135669.2:c.1397A>G, NM_001135669.1:c.1397A>G, NR_137330.2:n.1405A>G, NR_137330.1:n.1417A>G, NP_004727.2:p.Lys531Arg, NP_001129141.1:p.Lys466Arg

Select item 147938338711.

rs1479383387 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:180806125 (GRCh38)
1:180775261 (GRCh37)
Canonical SPDI:: NC_000001.11:180806124:C:T
Gene:: XPR1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.180806125C>T, NC_000001.10:g.180775261C>T, NG_050964.1:g.179116C>T, NM_004736.4:c.511C>T, NM_004736.3:c.511C>T, NM_001135669.2:c.511C>T, NM_001135669.1:c.511C>T, NR_137330.2:n.691C>T, NR_137330.1:n.703C>T, NM_001328662.2:c.511C>T, NM_001328662.1:c.511C>T, NP_004727.2:p.Arg171Cys, NP_001129141.1:p.Arg171Cys, NP_001315591.1:p.Arg171Cys

Select item 147783049412.

rs1477830494 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:180880249 (GRCh38)
1:180849385 (GRCh37)
Canonical SPDI:: NC_000001.11:180880248:G:A
Gene:: XPR1 (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.180880249G>A, NC_000001.10:g.180849385G>A, NG_050964.1:g.253240G>A, NM_004736.4:c.1982G>A, NM_004736.3:c.1982G>A, NM_001135669.2:c.1787G>A, NM_001135669.1:c.1787G>A, NR_137330.2:n.1795G>A, NR_137330.1:n.1807G>A, NP_004727.2:p.Trp661Ter, NP_001129141.1:p.Trp596Ter

Select item 147456485413.

rs1474564854 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:180836619 (GRCh38)
1:180805755 (GRCh37)
Canonical SPDI:: NC_000001.11:180836618:A:G
Gene:: XPR1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.180836619A>G, NC_000001.10:g.180805755A>G, NG_050964.1:g.209610A>G, NM_004736.4:c.1404A>G, NM_004736.3:c.1404A>G, NM_001328662.2:c.1404A>G, NM_001328662.1:c.1404A>G

Select item 147303265514.

rs1473032655 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 1:180880162 (GRCh38)
1:180849298 (GRCh37)
Canonical SPDI:: NC_000001.11:180880161:CCCCCC:CCCCC
Gene:: XPR1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,stop_gained
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.180880167del, NC_000001.10:g.180849303del, NG_050964.1:g.253158del, NM_004736.4:c.1900del, NM_004736.3:c.1900del, NM_001135669.2:c.1705del, NM_001135669.1:c.1705del, NR_137330.2:n.1713del, NR_137330.1:n.1725del, NP_004727.2:p.Pro633_Leu634insTer, NP_001129141.1:p.Pro568_Leu569insTer

Select item 147201134115.

rs1472011341 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:180825172 (GRCh38)
1:180794308 (GRCh37)
Canonical SPDI:: NC_000001.11:180825171:G:T
Gene:: XPR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.180825172G>T, NC_000001.10:g.180794308G>T, NG_050964.1:g.198163G>T, NM_004736.4:c.962G>T, NM_004736.3:c.962G>T, NM_001135669.2:c.962G>T, NM_001135669.1:c.962G>T, NR_137330.2:n.1142G>T, NR_137330.1:n.1154G>T, NM_001328662.2:c.962G>T, NM_001328662.1:c.962G>T, NP_004727.2:p.Gly321Val, NP_001129141.1:p.Gly321Val, NP_001315591.1:p.Gly321Val

Select item 147086214416.

rs1470862144 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:180806134 (GRCh38)
1:180775270 (GRCh37)
Canonical SPDI:: NC_000001.11:180806133:G:C
Gene:: XPR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000012/3 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.180806134G>C, NC_000001.10:g.180775270G>C, NG_050964.1:g.179125G>C, NM_004736.4:c.520G>C, NM_004736.3:c.520G>C, NM_001135669.2:c.520G>C, NM_001135669.1:c.520G>C, NR_137330.2:n.700G>C, NR_137330.1:n.712G>C, NM_001328662.2:c.520G>C, NM_001328662.1:c.520G>C, NP_004727.2:p.Asp174His, NP_001129141.1:p.Asp174His, NP_001315591.1:p.Asp174His

Select item 147075869117.

rs1470758691 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:180811454 (GRCh38)
1:180780590 (GRCh37)
Canonical SPDI:: NC_000001.11:180811453:A:G
Gene:: XPR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.180811454A>G, NC_000001.10:g.180780590A>G, NG_050964.1:g.184445A>G, NM_004736.4:c.729A>G, NM_004736.3:c.729A>G, NM_001135669.2:c.729A>G, NM_001135669.1:c.729A>G, NR_137330.2:n.909A>G, NR_137330.1:n.921A>G, NM_001328662.2:c.729A>G, NM_001328662.1:c.729A>G, NP_004727.2:p.Ile243Met, NP_001129141.1:p.Ile243Met, NP_001315591.1:p.Ile243Met

Select item 146977101218.

rs1469771012 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:180787780 (GRCh38)
1:180756916 (GRCh37)
Canonical SPDI:: NC_000001.11:180787779:A:G
Gene:: XPR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.180787780A>G, NC_000001.10:g.180756916A>G, NG_050964.1:g.160771A>G, NM_004736.4:c.149A>G, NM_004736.3:c.149A>G, NM_001135669.2:c.149A>G, NM_001135669.1:c.149A>G, NR_137330.2:n.329A>G, NR_137330.1:n.341A>G, NM_001328662.2:c.149A>G, NM_001328662.1:c.149A>G, NP_004727.2:p.Tyr50Cys, NP_001129141.1:p.Tyr50Cys, NP_001315591.1:p.Tyr50Cys

Select item 146965740119.

rs1469657401 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:180811463 (GRCh38)
1:180780599 (GRCh37)
Canonical SPDI:: NC_000001.11:180811462:A:C
Gene:: XPR1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.180811463A>C, NC_000001.10:g.180780599A>C, NG_050964.1:g.184454A>C, NM_004736.4:c.738A>C, NM_004736.3:c.738A>C, NM_001135669.2:c.738A>C, NM_001135669.1:c.738A>C, NR_137330.2:n.918A>C, NR_137330.1:n.930A>C, NM_001328662.2:c.738A>C, NM_001328662.1:c.738A>C

Select item 146791956420.

rs1467919564 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:180863720 (GRCh38)
1:180832856 (GRCh37)
Canonical SPDI:: NC_000001.11:180863719:C:T
Gene:: XPR1 (Varview), LOC124904464 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00004/1 (ALFA)
T=0.00007/1 (TOMMO)
HGVS:: NC_000001.11:g.180863720C>T, NC_000001.10:g.180832856C>T, NG_050964.1:g.236711C>T, NM_004736.4:c.1514C>T, NM_004736.3:c.1514C>T, NM_001135669.2:c.1319C>T, NM_001135669.1:c.1319C>T, NR_137330.2:n.1327C>T, NR_137330.1:n.1339C>T, NP_004727.2:p.Ser505Leu, NP_001129141.1:p.Ser440Leu

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