SNP Links for Protein (Select 1013363157) - SNP

Links from Protein

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Select item 14908065571.

rs1490806557 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:26746353 (GRCh38)
10:27035282 (GRCh37)
Canonical SPDI:: NC_000010.11:26746352:A:C
Gene:: ABI1 (Varview), PDSS1 (Varview)
Functional Consequence:: 500B_downstream_variant,3_prime_UTR_variant,synonymous_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.26746353A>C, NC_000010.10:g.27035282A>C, NG_008972.2:g.53688A>C, NM_014317.5:c.1128A>C, NM_014317.4:c.1128A>C, NM_014317.3:c.1128A>C, NM_001321979.2:c.618A>C, NM_001321979.1:c.618A>C, NM_001321978.2:c.*16A>C, NM_001321978.1:c.*16A>C, NG_030025.1:g.119735T>G, XM_011519437.4:c.759A>C, XM_011519437.3:c.759A>C, XM_011519437.2:c.759A>C, XM_011519437.1:c.759A>C, XM_017016011.3:c.807A>C, XM_017016011.2:c.807A>C, XM_017016011.1:c.807A>C

Select item 14898284322.

rs1489828432 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:26735263 (GRCh38)
10:27024192 (GRCh37)
Canonical SPDI:: NC_000010.11:26735262:C:T
Gene:: PDSS1 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.26735263C>T, NC_000010.10:g.27024192C>T, NG_008972.2:g.42598C>T, NM_014317.5:c.855C>T, NM_014317.4:c.855C>T, NM_014317.3:c.855C>T, NM_001321979.2:c.345C>T, NM_001321979.1:c.345C>T, XM_011519437.4:c.486C>T, XM_011519437.3:c.486C>T, XM_011519437.2:c.486C>T, XM_011519437.1:c.486C>T, XM_017016011.3:c.534C>T, XM_017016011.2:c.534C>T, XM_017016011.1:c.534C>T, XM_024447922.2:c.855C>T, XM_024447922.1:c.855C>T, XM_047424933.1:c.859C>T, XP_047280889.1:p.Pro287Ser

Select item 14829688733.

rs1482968873 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:26746466 (GRCh38)
10:27035395 (GRCh37)
Canonical SPDI:: NC_000010.11:26746465:A:G
Gene:: ABI1 (Varview), PDSS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,missense_variant,500B_downstream_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.26746466A>G, NC_000010.10:g.27035395A>G, NG_008972.2:g.53801A>G, NM_014317.5:c.1241A>G, NM_014317.4:c.1241A>G, NM_014317.3:c.1241A>G, NM_001321979.2:c.731A>G, NM_001321979.1:c.731A>G, NM_001321978.2:c.*129A>G, NM_001321978.1:c.*129A>G, NG_030025.1:g.119622T>C, XM_011519437.4:c.872A>G, XM_011519437.3:c.872A>G, XM_011519437.2:c.872A>G, XM_011519437.1:c.872A>G, XM_017016011.3:c.920A>G, XM_017016011.2:c.920A>G, XM_017016011.1:c.920A>G, NP_055132.2:p.Asp414Gly, NP_001308908.1:p.Asp244Gly, XP_011517739.1:p.Asp291Gly, XP_016871500.1:p.Asp307Gly

Select item 14765712634.

rs1476571263 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:26724051 (GRCh38)
10:27012980 (GRCh37)
Canonical SPDI:: NC_000010.11:26724050:T:C
Gene:: PDSS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.26724051T>C, NC_000010.10:g.27012980T>C, NG_008972.2:g.31386T>C, NM_014317.5:c.759T>C, NM_014317.4:c.759T>C, NM_014317.3:c.759T>C, NM_001321979.2:c.249T>C, NM_001321979.1:c.249T>C, NM_001321978.2:c.759T>C, NM_001321978.1:c.759T>C, XM_011519437.4:c.390T>C, XM_011519437.3:c.390T>C, XM_011519437.2:c.390T>C, XM_011519437.1:c.390T>C, XM_017016011.3:c.438T>C, XM_017016011.2:c.438T>C, XM_017016011.1:c.438T>C, XM_024447922.2:c.759T>C, XM_024447922.1:c.759T>C, XM_047424933.1:c.759T>C

Select item 14732364565.

rs1473236456 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:26723879 (GRCh38)
10:27012808 (GRCh37)
Canonical SPDI:: NC_000010.11:26723878:T:C
Gene:: PDSS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000010.11:g.26723879T>C, NC_000010.10:g.27012808T>C, NG_008972.2:g.31214T>C, NM_014317.5:c.683T>C, NM_014317.4:c.683T>C, NM_014317.3:c.683T>C, NM_001321979.2:c.173T>C, NM_001321979.1:c.173T>C, NM_001321978.2:c.683T>C, NM_001321978.1:c.683T>C, XM_011519437.4:c.314T>C, XM_011519437.3:c.314T>C, XM_011519437.2:c.314T>C, XM_011519437.1:c.314T>C, XM_017016011.3:c.362T>C, XM_017016011.2:c.362T>C, XM_017016011.1:c.362T>C, XM_024447922.2:c.683T>C, XM_024447922.1:c.683T>C, XM_047424933.1:c.683T>C, NP_055132.2:p.Ile228Thr, NP_001308908.1:p.Ile58Thr, NP_001308907.1:p.Ile228Thr, XP_011517739.1:p.Ile105Thr, XP_016871500.1:p.Ile121Thr, XP_024303690.1:p.Ile228Thr, XP_047280889.1:p.Ile228Thr

Select item 14713215156.

rs1471321515 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGATTTGCACACTACCTTGA>- [Show Flanks]
Chromosome:: 10:26724054 (GRCh38)
10:27012983 (GRCh37)
Canonical SPDI:: NC_000010.11:26724050:TGAAAGATTTGCACACTACCTTGA:TGA
Gene:: PDSS1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa
MAF:: TGA=0./0 (ALFA)
HGVS:: NC_000010.11:g.26724054_26724074del, NC_000010.10:g.27012983_27013003del, NG_008972.2:g.31389_31409del, NM_014317.5:c.762_782del, NM_014317.4:c.762_782del, NM_014317.3:c.762_782del, NM_001321979.2:c.252_272del, NM_001321979.1:c.252_272del, NM_001321978.2:c.762_782del, NM_001321978.1:c.762_782del, XM_011519437.4:c.393_413del, XM_011519437.3:c.393_413del, XM_011519437.2:c.393_413del, XM_011519437.1:c.393_413del, XM_017016011.3:c.441_461del, XM_017016011.2:c.441_461del, XM_017016011.1:c.441_461del, XM_024447922.2:c.762_782del, XM_024447922.1:c.762_782del, XM_047424933.1:c.762_782del, NP_055132.2:p.Arg255_Glu261del, NP_001308908.1:p.Arg85_Glu91del, NP_001308907.1:p.Arg255_Glu261del, XP_011517739.1:p.Arg132_Glu138del, XP_016871500.1:p.Arg148_Glu154del, XP_024303690.1:p.Arg255_Glu261del, XP_047280889.1:p.Arg255_Glu261del

Select item 14651320567.

rs1465132056 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:26746416 (GRCh38)
10:27035345 (GRCh37)
Canonical SPDI:: NC_000010.11:26746415:C:T
Gene:: ABI1 (Varview), PDSS1 (Varview)
Functional Consequence:: 500B_downstream_variant,synonymous_variant,coding_sequence_variant,3_prime_UTR_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.26746416C>T, NC_000010.10:g.27035345C>T, NG_008972.2:g.53751C>T, NM_014317.5:c.1191C>T, NM_014317.4:c.1191C>T, NM_014317.3:c.1191C>T, NM_001321979.2:c.681C>T, NM_001321979.1:c.681C>T, NM_001321978.2:c.*79C>T, NM_001321978.1:c.*79C>T, NG_030025.1:g.119672G>A, XM_011519437.4:c.822C>T, XM_011519437.3:c.822C>T, XM_011519437.2:c.822C>T, XM_011519437.1:c.822C>T, XM_017016011.3:c.870C>T, XM_017016011.2:c.870C>T, XM_017016011.1:c.870C>T

Select item 14622761808.

rs1462276180 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:26724122 (GRCh38)
10:27013051 (GRCh37)
Canonical SPDI:: NC_000010.11:26724121:C:T
Gene:: PDSS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000010.11:g.26724122C>T, NC_000010.10:g.27013051C>T, NG_008972.2:g.31457C>T, NM_014317.5:c.830C>T, NM_014317.4:c.830C>T, NM_014317.3:c.830C>T, NM_001321979.2:c.320C>T, NM_001321979.1:c.320C>T, NM_001321978.2:c.830C>T, NM_001321978.1:c.830C>T, XM_011519437.4:c.461C>T, XM_011519437.3:c.461C>T, XM_011519437.2:c.461C>T, XM_011519437.1:c.461C>T, XM_017016011.3:c.509C>T, XM_017016011.2:c.509C>T, XM_017016011.1:c.509C>T, XM_024447922.2:c.830C>T, XM_024447922.1:c.830C>T, XM_047424933.1:c.830C>T, NP_055132.2:p.Ala277Val, NP_001308908.1:p.Ala107Val, NP_001308907.1:p.Ala277Val, XP_011517739.1:p.Ala154Val, XP_016871500.1:p.Ala170Val, XP_024303690.1:p.Ala277Val, XP_047280889.1:p.Ala277Val

Select item 14475622719.

rs1447562271 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:26746341 (GRCh38)
10:27035270 (GRCh37)
Canonical SPDI:: NC_000010.11:26746340:T:C
Gene:: ABI1 (Varview), PDSS1 (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant
HGVS:: NC_000010.11:g.26746341T>C, NC_000010.10:g.27035270T>C, NG_008972.2:g.53676T>C, NM_014317.5:c.1116T>C, NM_014317.4:c.1116T>C, NM_014317.3:c.1116T>C, NM_001321979.2:c.606T>C, NM_001321979.1:c.606T>C, NM_001321978.2:c.*4T>C, NM_001321978.1:c.*4T>C, NG_030025.1:g.119747A>G, XM_011519437.4:c.747T>C, XM_011519437.3:c.747T>C, XM_011519437.2:c.747T>C, XM_011519437.1:c.747T>C, XM_017016011.3:c.795T>C, XM_017016011.2:c.795T>C, XM_017016011.1:c.795T>C

Select item 143669165910.

rs1436691659 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:26723844 (GRCh38)
10:27012773 (GRCh37)
Canonical SPDI:: NC_000010.11:26723843:T:C
Gene:: PDSS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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.26723844T>C, NC_000010.10:g.27012773T>C, NG_008972.2:g.31179T>C, NM_014317.5:c.648T>C, NM_014317.4:c.648T>C, NM_014317.3:c.648T>C, NM_001321979.2:c.138T>C, NM_001321979.1:c.138T>C, NM_001321978.2:c.648T>C, NM_001321978.1:c.648T>C, XM_011519437.4:c.279T>C, XM_011519437.3:c.279T>C, XM_011519437.2:c.279T>C, XM_011519437.1:c.279T>C, XM_017016011.3:c.327T>C, XM_017016011.2:c.327T>C, XM_017016011.1:c.327T>C, XM_024447922.2:c.648T>C, XM_024447922.1:c.648T>C, XM_047424933.1:c.648T>C

Select item 143175838211.

rs1431758382 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:26735504 (GRCh38)
10:27024433 (GRCh37)
Canonical SPDI:: NC_000010.11:26735503:C:T
Gene:: PDSS1 (Varview)
Functional Consequence:: downstream_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000142/2 (TOMMO)
T=0.000342/1 (KOREAN)
HGVS:: NC_000010.11:g.26735504C>T, NC_000010.10:g.27024433C>T, NG_008972.2:g.42839C>T, NM_014317.5:c.951C>T, NM_014317.4:c.951C>T, NM_014317.3:c.951C>T, NM_001321979.2:c.441C>T, NM_001321979.1:c.441C>T, XM_011519437.4:c.582C>T, XM_011519437.3:c.582C>T, XM_011519437.2:c.582C>T, XM_011519437.1:c.582C>T, XM_017016011.3:c.630C>T, XM_017016011.2:c.630C>T, XM_017016011.1:c.630C>T, XM_024447922.2:c.951C>T, XM_024447922.1:c.951C>T

Select item 143059049212.

rs1430590492 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:26735570 (GRCh38)
10:27024499 (GRCh37)
Canonical SPDI:: NC_000010.11:26735569:C:T
Gene:: PDSS1 (Varview)
Functional Consequence:: synonymous_variant,downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.26735570C>T, NC_000010.10:g.27024499C>T, NG_008972.2:g.42905C>T, NM_014317.5:c.1017C>T, NM_014317.4:c.1017C>T, NM_014317.3:c.1017C>T, NM_001321979.2:c.507C>T, NM_001321979.1:c.507C>T, XM_011519437.4:c.648C>T, XM_011519437.3:c.648C>T, XM_011519437.2:c.648C>T, XM_011519437.1:c.648C>T, XM_017016011.3:c.696C>T, XM_017016011.2:c.696C>T, XM_017016011.1:c.696C>T, XM_024447922.2:c.1017C>T, XM_024447922.1:c.1017C>T

Select item 142573686313.

rs1425736863 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 10:26746389 (GRCh38)
10:27035318 (GRCh37)
Canonical SPDI:: NC_000010.11:26746388:AA:
Gene:: ABI1 (Varview), PDSS1 (Varview)
Functional Consequence:: downstream_transcript_variant,frameshift_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.26746389_26746390del, NC_000010.10:g.27035318_27035319del, NG_008972.2:g.53724_53725del, NM_014317.5:c.1164_1165del, NM_014317.4:c.1164_1165del, NM_014317.3:c.1164_1165del, NM_001321979.2:c.654_655del, NM_001321979.1:c.654_655del, NM_001321978.2:c.*52_*53del, NM_001321978.1:c.*52_*53del, NG_030025.1:g.119698_119699del, XM_011519437.4:c.795_796del, XM_011519437.3:c.795_796del, XM_011519437.2:c.795_796del, XM_011519437.1:c.795_796del, XM_017016011.3:c.843_844del, XM_017016011.2:c.843_844del, XM_017016011.1:c.843_844del, NP_055132.2:p.Ile388fs, NP_001308908.1:p.Ile218fs, XP_011517739.1:p.Ile265fs, XP_016871500.1:p.Ile281fs

Select item 142491228214.

rs1424912282 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:26735281 (GRCh38)
10:27024210 (GRCh37)
Canonical SPDI:: NC_000010.11:26735280:C:T
Gene:: PDSS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.26735281C>T, NC_000010.10:g.27024210C>T, NG_008972.2:g.42616C>T, NM_014317.5:c.873C>T, NM_014317.4:c.873C>T, NM_014317.3:c.873C>T, NM_001321979.2:c.363C>T, NM_001321979.1:c.363C>T, XM_011519437.4:c.504C>T, XM_011519437.3:c.504C>T, XM_011519437.2:c.504C>T, XM_011519437.1:c.504C>T, XM_017016011.3:c.552C>T, XM_017016011.2:c.552C>T, XM_017016011.1:c.552C>T, XM_024447922.2:c.873C>T, XM_024447922.1:c.873C>T, XM_047424933.1:c.*4C>T

Select item 141928959315.

rs1419289593 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:26735478 (GRCh38)
10:27024407 (GRCh37)
Canonical SPDI:: NC_000010.11:26735477:G:A
Gene:: PDSS1 (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.26735478G>A, NC_000010.10:g.27024407G>A, NG_008972.2:g.42813G>A, NM_014317.5:c.925G>A, NM_014317.4:c.925G>A, NM_014317.3:c.925G>A, NM_001321979.2:c.415G>A, NM_001321979.1:c.415G>A, XM_011519437.4:c.556G>A, XM_011519437.3:c.556G>A, XM_011519437.2:c.556G>A, XM_011519437.1:c.556G>A, XM_017016011.3:c.604G>A, XM_017016011.2:c.604G>A, XM_017016011.1:c.604G>A, XM_024447922.2:c.925G>A, XM_024447922.1:c.925G>A, NP_055132.2:p.Val309Ile, NP_001308908.1:p.Val139Ile, XP_011517739.1:p.Val186Ile, XP_016871500.1:p.Val202Ile, XP_024303690.1:p.Val309Ile

Select item 141872201016.

rs1418722010 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:26746380 (GRCh38)
10:27035309 (GRCh37)
Canonical SPDI:: NC_000010.11:26746379:T:G
Gene:: ABI1 (Varview), PDSS1 (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.26746380T>G, NC_000010.10:g.27035309T>G, NG_008972.2:g.53715T>G, NM_014317.5:c.1155T>G, NM_014317.4:c.1155T>G, NM_014317.3:c.1155T>G, NM_001321979.2:c.645T>G, NM_001321979.1:c.645T>G, NM_001321978.2:c.*43T>G, NM_001321978.1:c.*43T>G, NG_030025.1:g.119708A>C, XM_011519437.4:c.786T>G, XM_011519437.3:c.786T>G, XM_011519437.2:c.786T>G, XM_011519437.1:c.786T>G, XM_017016011.3:c.834T>G, XM_017016011.2:c.834T>G, XM_017016011.1:c.834T>G, NP_055132.2:p.His385Gln, NP_001308908.1:p.His215Gln, XP_011517739.1:p.His262Gln, XP_016871500.1:p.His278Gln

Select item 140854461817.

rs1408544618 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:26720342 (GRCh38)
10:27009271 (GRCh37)
Canonical SPDI:: NC_000010.11:26720341:A:G
Gene:: PDSS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000012/3 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.26720342A>G, NC_000010.10:g.27009271A>G, NG_008972.2:g.27677A>G, NM_014317.5:c.592A>G, NM_014317.4:c.592A>G, NM_014317.3:c.592A>G, NM_001321979.2:c.82A>G, NM_001321979.1:c.82A>G, NM_001321978.2:c.592A>G, NM_001321978.1:c.592A>G, XM_011519437.4:c.223A>G, XM_011519437.3:c.223A>G, XM_011519437.2:c.223A>G, XM_011519437.1:c.223A>G, XM_017016011.3:c.271A>G, XM_017016011.2:c.271A>G, XM_017016011.1:c.271A>G, XM_024447922.2:c.592A>G, XM_024447922.1:c.592A>G, XM_047424933.1:c.592A>G, NP_055132.2:p.Ile198Val, NP_001308908.1:p.Ile28Val, NP_001308907.1:p.Ile198Val, XP_011517739.1:p.Ile75Val, XP_016871500.1:p.Ile91Val, XP_024303690.1:p.Ile198Val, XP_047280889.1:p.Ile198Val

Select item 140724737518.

rs1407247375 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:26723886 (GRCh38)
10:27012815 (GRCh37)
Canonical SPDI:: NC_000010.11:26723885:T:C
Gene:: PDSS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.26723886T>C, NC_000010.10:g.27012815T>C, NG_008972.2:g.31221T>C, NM_014317.5:c.690T>C, NM_014317.4:c.690T>C, NM_014317.3:c.690T>C, NM_001321979.2:c.180T>C, NM_001321979.1:c.180T>C, NM_001321978.2:c.690T>C, NM_001321978.1:c.690T>C, XM_011519437.4:c.321T>C, XM_011519437.3:c.321T>C, XM_011519437.2:c.321T>C, XM_011519437.1:c.321T>C, XM_017016011.3:c.369T>C, XM_017016011.2:c.369T>C, XM_017016011.1:c.369T>C, XM_024447922.2:c.690T>C, XM_024447922.1:c.690T>C, XM_047424933.1:c.690T>C

Select item 140481883519.

rs1404818835 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:26742571 (GRCh38)
10:27031500 (GRCh37)
Canonical SPDI:: NC_000010.11:26742570:A:G
Gene:: PDSS1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_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_000010.11:g.26742571A>G, NC_000010.10:g.27031500A>G, NG_008972.2:g.49906A>G, NM_014317.5:c.1101A>G, NM_014317.4:c.1101A>G, NM_014317.3:c.1101A>G, NM_001321979.2:c.591A>G, NM_001321979.1:c.591A>G, NM_001321978.2:c.910A>G, NM_001321978.1:c.910A>G, XM_011519437.4:c.732A>G, XM_011519437.3:c.732A>G, XM_011519437.2:c.732A>G, XM_011519437.1:c.732A>G, XM_017016011.3:c.780A>G, XM_017016011.2:c.780A>G, XM_017016011.1:c.780A>G, NP_001308907.1:p.Thr304Ala

Select item 140331465220.

rs1403314652 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:26720356 (GRCh38)
10:27009285 (GRCh37)
Canonical SPDI:: NC_000010.11:26720355:G:A
Gene:: PDSS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000010.11:g.26720356G>A, NC_000010.10:g.27009285G>A, NG_008972.2:g.27691G>A, NM_014317.5:c.606G>A, NM_014317.4:c.606G>A, NM_014317.3:c.606G>A, NM_001321979.2:c.96G>A, NM_001321979.1:c.96G>A, NM_001321978.2:c.606G>A, NM_001321978.1:c.606G>A, XM_011519437.4:c.237G>A, XM_011519437.3:c.237G>A, XM_011519437.2:c.237G>A, XM_011519437.1:c.237G>A, XM_017016011.3:c.285G>A, XM_017016011.2:c.285G>A, XM_017016011.1:c.285G>A, XM_024447922.2:c.606G>A, XM_024447922.1:c.606G>A, XM_047424933.1:c.606G>A

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