SNP Links for Protein (Select 1007388700) - SNP

Links from Protein

Items: 1 to 20 of 475

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Select item 14899795171.

rs1489979517 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:31993921 (GRCh38)
17:30320940 (GRCh37)
Canonical SPDI:: NC_000017.11:31993920:C:T
Gene:: SUZ12 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.31993921C>T, NC_000017.10:g.30320940C>T, NG_009237.1:g.61897C>T, NM_015355.4:c.1350C>T, NM_015355.3:c.1350C>T, NM_015355.2:c.1350C>T, NM_001321207.2:c.1281C>T, NM_001321207.1:c.1281C>T, XM_006721794.4:c.942C>T, XM_006721794.3:c.942C>T, XM_006721794.2:c.942C>T, XM_006721794.1:c.942C>T, XM_047435704.1:c.999C>T, XM_047435705.1:c.621C>T, XM_047435706.1:c.456C>T

Select item 14897746392.

rs1489774639 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:31975677 (GRCh38)
17:30302696 (GRCh37)
Canonical SPDI:: NC_000017.11:31975676:A:C
Gene:: SUZ12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.31975677A>C, NC_000017.10:g.30302696A>C, NG_009237.1:g.43653A>C, NM_015355.4:c.787A>C, NM_015355.3:c.787A>C, NM_015355.2:c.787A>C, NM_001321207.2:c.718A>C, NM_001321207.1:c.718A>C, XM_006721794.4:c.379A>C, XM_006721794.3:c.379A>C, XM_006721794.2:c.379A>C, XM_006721794.1:c.379A>C, XM_047435704.1:c.436A>C, XM_047435705.1:c.58A>C, XM_047435707.1:c.787A>C, NP_056170.2:p.Asn263His, NP_001308136.1:p.Asn240His, XP_006721857.1:p.Asn127His, XP_047291660.1:p.Asn146His, XP_047291661.1:p.Asn20His, XP_047291663.1:p.Asn263His

Select item 14839983093.

rs1483998309 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:31988326 (GRCh38)
17:30315345 (GRCh37)
Canonical SPDI:: NC_000017.11:31988325:C:G
Gene:: SUZ12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.0016/3 (Korea1K)
HGVS:: NC_000017.11:g.31988326C>G, NC_000017.10:g.30315345C>G, NG_009237.1:g.56302C>G, NM_015355.4:c.1030C>G, NM_015355.3:c.1030C>G, NM_015355.2:c.1030C>G, NM_001321207.2:c.961C>G, NM_001321207.1:c.961C>G, XM_006721794.4:c.622C>G, XM_006721794.3:c.622C>G, XM_006721794.2:c.622C>G, XM_006721794.1:c.622C>G, XM_047435704.1:c.679C>G, XM_047435705.1:c.301C>G, XM_047435706.1:c.136C>G, XM_047435707.1:c.924C>G, NP_056170.2:p.Pro344Ala, NP_001308136.1:p.Pro321Ala, XP_006721857.1:p.Pro208Ala, XP_047291660.1:p.Pro227Ala, XP_047291661.1:p.Pro101Ala, XP_047291662.1:p.Pro46Ala, XP_047291663.1:p.Cys308Trp

Select item 14839482964.

rs1483948296 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:31995594 (GRCh38)
17:30322613 (GRCh37)
Canonical SPDI:: NC_000017.11:31995593:A:G
Gene:: SUZ12 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.31995594A>G, NC_000017.10:g.30322613A>G, NG_009237.1:g.63570A>G, NM_015355.4:c.1626A>G, NM_015355.3:c.1626A>G, NM_015355.2:c.1626A>G, NM_001321207.2:c.1557A>G, NM_001321207.1:c.1557A>G, XM_006721794.4:c.1218A>G, XM_006721794.3:c.1218A>G, XM_006721794.2:c.1218A>G, XM_006721794.1:c.1218A>G, XM_047435704.1:c.1275A>G, XM_047435705.1:c.897A>G, XM_047435706.1:c.732A>G

Select item 14838760295.

rs1483876029 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:31998735 (GRCh38)
17:30325754 (GRCh37)
Canonical SPDI:: NC_000017.11:31998734:A:G
Gene:: SUZ12 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.31998735A>G, NC_000017.10:g.30325754A>G, NG_009237.1:g.66711A>G, NM_015355.4:c.1952A>G, NM_015355.3:c.1952A>G, NM_015355.2:c.1952A>G, NM_001321207.2:c.1883A>G, NM_001321207.1:c.1883A>G, XM_006721794.4:c.1544A>G, XM_006721794.3:c.1544A>G, XM_006721794.2:c.1544A>G, XM_006721794.1:c.1544A>G, XM_047435704.1:c.1601A>G, XM_047435705.1:c.1223A>G, XM_047435706.1:c.1058A>G, NP_056170.2:p.Asn651Ser, NP_001308136.1:p.Asn628Ser, XP_006721857.1:p.Asn515Ser, XP_047291660.1:p.Asn534Ser, XP_047291661.1:p.Asn408Ser, XP_047291662.1:p.Asn353Ser

Select item 14838463426.

rs1483846342 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:31993310 (GRCh38)
17:30320329 (GRCh37)
Canonical SPDI:: NC_000017.11:31993309:C:G
Gene:: SUZ12 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.31993310C>G, NC_000017.10:g.30320329C>G, NG_009237.1:g.61286C>G, NM_015355.4:c.1270C>G, NM_015355.3:c.1270C>G, NM_015355.2:c.1270C>G, NM_001321207.2:c.1201C>G, NM_001321207.1:c.1201C>G, XM_006721794.4:c.862C>G, XM_006721794.3:c.862C>G, XM_006721794.2:c.862C>G, XM_006721794.1:c.862C>G, XM_047435704.1:c.919C>G, XM_047435705.1:c.541C>G, XM_047435706.1:c.376C>G, NP_056170.2:p.Gln424Glu, NP_001308136.1:p.Gln401Glu, XP_006721857.1:p.Gln288Glu, XP_047291660.1:p.Gln307Glu, XP_047291661.1:p.Gln181Glu, XP_047291662.1:p.Gln126Glu

Select item 14821754727.

rs1482175472 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:31937510 (GRCh38)
17:30264529 (GRCh37)
Canonical SPDI:: NC_000017.11:31937509:G:A,NC_000017.11:31937509:G:T
Gene:: SUZ12 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.31937510G>A, NC_000017.11:g.31937510G>T, NC_000017.10:g.30264529G>A, NC_000017.10:g.30264529G>T, NG_009237.1:g.5486G>A, NG_009237.1:g.5486G>T, NM_015355.4:c.264G>A, NM_015355.4:c.264G>T, NM_015355.3:c.264G>A, NM_015355.3:c.264G>T, NM_015355.2:c.264G>A, NM_015355.2:c.264G>T, NM_001321207.2:c.264G>A, NM_001321207.2:c.264G>T, NM_001321207.1:c.264G>A, NM_001321207.1:c.264G>T, XM_006721794.4:c.-33G>A, XM_006721794.4:c.-33G>T, XM_006721794.3:c.-33G>A, XM_006721794.3:c.-33G>T, XM_006721794.2:c.-33G>A, XM_006721794.2:c.-33G>T, XM_006721794.1:c.-33G>A, XM_006721794.1:c.-33G>T, XM_047435704.1:c.-120G>A, XM_047435704.1:c.-120G>T, XM_047435707.1:c.264G>A, XM_047435707.1:c.264G>T, NP_056170.2:p.Gln88His, NP_001308136.1:p.Gln88His, XP_047291663.1:p.Gln88His

Select item 14806732688.

rs1480673268 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:31966180 (GRCh38)
17:30293199 (GRCh37)
Canonical SPDI:: NC_000017.11:31966179:T:G
Gene:: SUZ12 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.31966180T>G, NC_000017.10:g.30293199T>G, NG_009237.1:g.34156T>G, NM_015355.4:c.489T>G, NM_015355.3:c.489T>G, NM_015355.2:c.489T>G, NM_001321207.2:c.420T>G, NM_001321207.1:c.420T>G, XM_006721794.4:c.81T>G, XM_006721794.3:c.81T>G, XM_006721794.2:c.81T>G, XM_006721794.1:c.81T>G, XM_047435704.1:c.138T>G, XM_047435705.1:c.-241T>G, XM_047435707.1:c.489T>G

Select item 14805416499.

rs1480541649 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:31988335 (GRCh38)
17:30315354 (GRCh37)
Canonical SPDI:: NC_000017.11:31988334:G:A
Gene:: SUZ12 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.31988335G>A, NC_000017.10:g.30315354G>A, NG_009237.1:g.56311G>A, NM_015355.4:c.1039G>A, NM_015355.3:c.1039G>A, NM_015355.2:c.1039G>A, NM_001321207.2:c.970G>A, NM_001321207.1:c.970G>A, XM_006721794.4:c.631G>A, XM_006721794.3:c.631G>A, XM_006721794.2:c.631G>A, XM_006721794.1:c.631G>A, XM_047435704.1:c.688G>A, XM_047435705.1:c.310G>A, XM_047435706.1:c.145G>A, XM_047435707.1:c.933G>A, NP_056170.2:p.Glu347Lys, NP_001308136.1:p.Glu324Lys, XP_006721857.1:p.Glu211Lys, XP_047291660.1:p.Glu230Lys, XP_047291661.1:p.Glu104Lys, XP_047291662.1:p.Glu49Lys

Select item 147831921910.

rs1478319219 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:31937308 (GRCh38)
17:30264327 (GRCh37)
Canonical SPDI:: NC_000017.11:31937307:G:A
Gene:: SUZ12 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_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 (TOPMED)
A=0.000026/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.31937308G>A, NC_000017.10:g.30264327G>A, NG_009237.1:g.5284G>A, NM_015355.4:c.62G>A, NM_015355.3:c.62G>A, NM_015355.2:c.62G>A, NM_001321207.2:c.62G>A, NM_001321207.1:c.62G>A, XM_006721794.4:c.-235G>A, XM_047435704.1:c.-322G>A, XM_047435707.1:c.62G>A, NP_056170.2:p.Gly21Glu, NP_001308136.1:p.Gly21Glu, XP_047291663.1:p.Gly21Glu

Select item 147440614011.

rs1474406140 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:31995690 (GRCh38)
17:30322709 (GRCh37)
Canonical SPDI:: NC_000017.11:31995689:C:T
Gene:: SUZ12 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.31995690C>T, NC_000017.10:g.30322709C>T, NG_009237.1:g.63666C>T, NM_015355.4:c.1722C>T, NM_015355.3:c.1722C>T, NM_015355.2:c.1722C>T, NM_001321207.2:c.1653C>T, NM_001321207.1:c.1653C>T, XM_006721794.4:c.1314C>T, XM_006721794.3:c.1314C>T, XM_006721794.2:c.1314C>T, XM_006721794.1:c.1314C>T, XM_047435704.1:c.1371C>T, XM_047435705.1:c.993C>T, XM_047435706.1:c.828C>T

Select item 147313116012.

rs1473131160 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:31998956 (GRCh38)
17:30325975 (GRCh37)
Canonical SPDI:: NC_000017.11:31998955:G:C
Gene:: SUZ12 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.31998956G>C, NC_000017.10:g.30325975G>C, NG_009237.1:g.66932G>C, NM_015355.4:c.2173G>C, NM_015355.3:c.2173G>C, NM_015355.2:c.2173G>C, NM_001321207.2:c.2104G>C, NM_001321207.1:c.2104G>C, XM_006721794.4:c.1765G>C, XM_006721794.3:c.1765G>C, XM_006721794.2:c.1765G>C, XM_006721794.1:c.1765G>C, XM_047435704.1:c.1822G>C, XM_047435705.1:c.1444G>C, XM_047435706.1:c.1279G>C, NP_056170.2:p.Asp725His, NP_001308136.1:p.Asp702His, XP_006721857.1:p.Asp589His, XP_047291660.1:p.Asp608His, XP_047291661.1:p.Asp482His, XP_047291662.1:p.Asp427His

Select item 147109849913.

rs1471098499 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:31975659 (GRCh38)
17:30302678 (GRCh37)
Canonical SPDI:: NC_000017.11:31975658:C:T
Gene:: SUZ12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.31975659C>T, NC_000017.10:g.30302678C>T, NG_009237.1:g.43635C>T, NM_015355.4:c.769C>T, NM_015355.3:c.769C>T, NM_015355.2:c.769C>T, NM_001321207.2:c.700C>T, NM_001321207.1:c.700C>T, XM_006721794.4:c.361C>T, XM_006721794.3:c.361C>T, XM_006721794.2:c.361C>T, XM_006721794.1:c.361C>T, XM_047435704.1:c.418C>T, XM_047435705.1:c.40C>T, XM_047435707.1:c.769C>T, NP_056170.2:p.Pro257Ser, NP_001308136.1:p.Pro234Ser, XP_006721857.1:p.Pro121Ser, XP_047291660.1:p.Pro140Ser, XP_047291661.1:p.Pro14Ser, XP_047291663.1:p.Pro257Ser

Select item 147039203114.

rs1470392031 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:31993277 (GRCh38)
17:30320296 (GRCh37)
Canonical SPDI:: NC_000017.11:31993276:A:G
Gene:: SUZ12 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.31993277A>G, NC_000017.10:g.30320296A>G, NG_009237.1:g.61253A>G, NM_015355.4:c.1237A>G, NM_015355.3:c.1237A>G, NM_015355.2:c.1237A>G, NM_001321207.2:c.1168A>G, NM_001321207.1:c.1168A>G, XM_006721794.4:c.829A>G, XM_006721794.3:c.829A>G, XM_006721794.2:c.829A>G, XM_006721794.1:c.829A>G, XM_047435704.1:c.886A>G, XM_047435705.1:c.508A>G, XM_047435706.1:c.343A>G, XM_047435707.1:c.*18A>G, NP_056170.2:p.Arg413Gly, NP_001308136.1:p.Arg390Gly, XP_006721857.1:p.Arg277Gly, XP_047291660.1:p.Arg296Gly, XP_047291661.1:p.Arg170Gly, XP_047291662.1:p.Arg115Gly

Select item 146835981315.

rs1468359813 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:31994649 (GRCh38)
17:30321668 (GRCh37)
Canonical SPDI:: NC_000017.11:31994648:G:A
Gene:: SUZ12 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000056/2 (ALFA)
A=0./0 (KOREAN)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.31994649G>A, NC_000017.10:g.30321668G>A, NG_009237.1:g.62625G>A, NM_015355.4:c.1523G>A, NM_015355.3:c.1523G>A, NM_015355.2:c.1523G>A, NM_001321207.2:c.1454G>A, NM_001321207.1:c.1454G>A, XM_006721794.4:c.1115G>A, XM_006721794.3:c.1115G>A, XM_006721794.2:c.1115G>A, XM_006721794.1:c.1115G>A, XM_047435704.1:c.1172G>A, XM_047435705.1:c.794G>A, XM_047435706.1:c.629G>A, NP_056170.2:p.Arg508His, NP_001308136.1:p.Arg485His, XP_006721857.1:p.Arg372His, XP_047291660.1:p.Arg391His, XP_047291661.1:p.Arg265His, XP_047291662.1:p.Arg210His

Select item 146756792816.

rs1467567928 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:31998798 (GRCh38)
17:30325817 (GRCh37)
Canonical SPDI:: NC_000017.11:31998797:T:C
Gene:: SUZ12 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.31998798T>C, NC_000017.10:g.30325817T>C, NG_009237.1:g.66774T>C, NM_015355.4:c.2015T>C, NM_015355.3:c.2015T>C, NM_015355.2:c.2015T>C, NM_001321207.2:c.1946T>C, NM_001321207.1:c.1946T>C, XM_006721794.4:c.1607T>C, XM_006721794.3:c.1607T>C, XM_006721794.2:c.1607T>C, XM_006721794.1:c.1607T>C, XM_047435704.1:c.1664T>C, XM_047435705.1:c.1286T>C, XM_047435706.1:c.1121T>C, NP_056170.2:p.Met672Thr, NP_001308136.1:p.Met649Thr, XP_006721857.1:p.Met536Thr, XP_047291660.1:p.Met555Thr, XP_047291661.1:p.Met429Thr, XP_047291662.1:p.Met374Thr

Select item 146476218917.

rs1464762189 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:31937326 (GRCh38)
17:30264345 (GRCh37)
Canonical SPDI:: NC_000017.11:31937325:G:A
Gene:: SUZ12 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000102/2 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000016/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.31937326G>A, NC_000017.10:g.30264345G>A, NG_009237.1:g.5302G>A, NM_015355.4:c.80G>A, NM_015355.3:c.80G>A, NM_015355.2:c.80G>A, NM_001321207.2:c.80G>A, NM_001321207.1:c.80G>A, XM_006721794.4:c.-217G>A, XM_047435704.1:c.-304G>A, XM_047435707.1:c.80G>A, NP_056170.2:p.Gly27Asp, NP_001308136.1:p.Gly27Asp, XP_047291663.1:p.Gly27Asp

Select item 146447170318.

rs1464471703 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:31998662 (GRCh38)
17:30325681 (GRCh37)
Canonical SPDI:: NC_000017.11:31998661:A:G
Gene:: SUZ12 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.31998662A>G, NC_000017.10:g.30325681A>G, NG_009237.1:g.66638A>G, NM_015355.4:c.1879A>G, NM_015355.3:c.1879A>G, NM_015355.2:c.1879A>G, NM_001321207.2:c.1810A>G, NM_001321207.1:c.1810A>G, XM_006721794.4:c.1471A>G, XM_006721794.3:c.1471A>G, XM_006721794.2:c.1471A>G, XM_006721794.1:c.1471A>G, XM_047435704.1:c.1528A>G, XM_047435705.1:c.1150A>G, XM_047435706.1:c.985A>G, NP_056170.2:p.Ile627Val, NP_001308136.1:p.Ile604Val, XP_006721857.1:p.Ile491Val, XP_047291660.1:p.Ile510Val, XP_047291661.1:p.Ile384Val, XP_047291662.1:p.Ile329Val

Select item 146245604919.

rs1462456049 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:31988431 (GRCh38)
17:30315450 (GRCh37)
Canonical SPDI:: NC_000017.11:31988430:A:C
Gene:: SUZ12 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.31988431A>C, NC_000017.10:g.30315450A>C, NG_009237.1:g.56407A>C, NM_015355.4:c.1135A>C, NM_015355.3:c.1135A>C, NM_015355.2:c.1135A>C, NM_001321207.2:c.1066A>C, NM_001321207.1:c.1066A>C, XM_006721794.4:c.727A>C, XM_006721794.3:c.727A>C, XM_006721794.2:c.727A>C, XM_006721794.1:c.727A>C, XM_047435704.1:c.784A>C, XM_047435705.1:c.406A>C, XM_047435706.1:c.241A>C, XM_047435707.1:c.1029A>C, NP_056170.2:p.Thr379Pro, NP_001308136.1:p.Thr356Pro, XP_006721857.1:p.Thr243Pro, XP_047291660.1:p.Thr262Pro, XP_047291661.1:p.Thr136Pro, XP_047291662.1:p.Thr81Pro

Select item 146240603920.

rs1462406039 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:31975684 (GRCh38)
17:30302703 (GRCh37)
Canonical SPDI:: NC_000017.11:31975683:T:C
Gene:: SUZ12 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.31975684T>C, NC_000017.10:g.30302703T>C, NG_009237.1:g.43660T>C, NM_015355.4:c.794T>C, NM_015355.3:c.794T>C, NM_015355.2:c.794T>C, NM_001321207.2:c.725T>C, NM_001321207.1:c.725T>C, XM_006721794.4:c.386T>C, XM_006721794.3:c.386T>C, XM_006721794.2:c.386T>C, XM_006721794.1:c.386T>C, XM_047435704.1:c.443T>C, XM_047435705.1:c.65T>C, XM_047435707.1:c.794T>C, NP_056170.2:p.Met265Thr, NP_001308136.1:p.Met242Thr, XP_006721857.1:p.Met129Thr, XP_047291660.1:p.Met148Thr, XP_047291661.1:p.Met22Thr, XP_047291663.1:p.Met265Thr

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