SNP Links for Protein (Select 387598045) - SNP

Links from Protein

Items: 1 to 20 of 465

<< First< Prev

Page of 24

Next >Last >>

Select item 14871618301.

rs1487161830 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:43529594 (GRCh38)
17:41606962 (GRCh37)
Canonical SPDI:: NC_000017.11:43529593:A:G
Gene:: DHX8 (Varview), ETV4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.43529594A>G, NC_000017.10:g.41606962A>G, NM_001079675.5:c.1038T>C, NM_001079675.4:c.1038T>C, NM_001079675.3:c.1038T>C, NM_001079675.2:c.1038T>C, NM_001986.4:c.1038T>C, NM_001986.3:c.1038T>C, NM_001986.2:c.1038T>C, NM_001261437.3:c.921T>C, NM_001261437.2:c.921T>C, NM_001261437.1:c.921T>C, NM_001261438.3:c.921T>C, NM_001261438.2:c.921T>C, NM_001261438.1:c.921T>C, NM_001261439.3:c.207T>C, NM_001261439.2:c.207T>C, NM_001261439.1:c.207T>C, NM_001369366.2:c.1038T>C, NM_001369366.1:c.1038T>C, NM_001369367.2:c.1035T>C, NM_001369367.1:c.1035T>C, NM_001369368.2:c.1023T>C, NM_001369368.1:c.1023T>C, XM_047435593.1:c.207T>C, XM_047435592.1:c.249T>C

Select item 14864985562.

rs1486498556 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:43532854 (GRCh38)
17:41610222 (GRCh37)
Canonical SPDI:: NC_000017.11:43532853:G:A,NC_000017.11:43532853:G:T
Gene:: DHX8 (Varview), ETV4 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.001522/26 (TOMMO)
HGVS:: NC_000017.11:g.43532854G>A, NC_000017.11:g.43532854G>T, NC_000017.10:g.41610222G>A, NC_000017.10:g.41610222G>T, NM_001079675.5:c.631C>T, NM_001079675.5:c.631C>A, NM_001079675.4:c.631C>T, NM_001079675.4:c.631C>A, NM_001079675.3:c.631C>T, NM_001079675.3:c.631C>A, NM_001079675.2:c.631C>T, NM_001079675.2:c.631C>A, NM_001986.4:c.631C>T, NM_001986.4:c.631C>A, NM_001986.3:c.631C>T, NM_001986.3:c.631C>A, NM_001986.2:c.631C>T, NM_001986.2:c.631C>A, NM_001261437.3:c.514C>T, NM_001261437.3:c.514C>A, NM_001261437.2:c.514C>T, NM_001261437.2:c.514C>A, NM_001261437.1:c.514C>T, NM_001261437.1:c.514C>A, NM_001261438.3:c.514C>T, NM_001261438.3:c.514C>A, NM_001261438.2:c.514C>T, NM_001261438.2:c.514C>A, NM_001261438.1:c.514C>T, NM_001261438.1:c.514C>A, NM_001369366.2:c.631C>T, NM_001369366.2:c.631C>A, NM_001369366.1:c.631C>T, NM_001369366.1:c.631C>A, NM_001369367.2:c.628C>T, NM_001369367.2:c.628C>A, NM_001369367.1:c.628C>T, NM_001369367.1:c.628C>A, NM_001369368.2:c.631C>T, NM_001369368.2:c.631C>A, NM_001369368.1:c.631C>T, NM_001369368.1:c.631C>A, XM_047435593.1:c.-201C>T, XM_047435593.1:c.-201C>A, NP_001073143.1:p.His211Tyr, NP_001073143.1:p.His211Asn, NP_001977.1:p.His211Tyr, NP_001977.1:p.His211Asn, NP_001248366.1:p.His172Tyr, NP_001248366.1:p.His172Asn, NP_001248367.1:p.His172Tyr, NP_001248367.1:p.His172Asn, NP_001356295.1:p.His211Tyr, NP_001356295.1:p.His211Asn, NP_001356296.1:p.His210Tyr, NP_001356296.1:p.His210Asn, NP_001356297.1:p.His211Tyr, NP_001356297.1:p.His211Asn

Select item 14767565523.

rs1476756552 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:43533318 (GRCh38)
17:41610686 (GRCh37)
Canonical SPDI:: NC_000017.11:43533317:G:C
Gene:: DHX8 (Varview), ETV4 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.43533318G>C, NC_000017.10:g.41610686G>C, NM_001079675.5:c.414C>G, NM_001079675.4:c.414C>G, NM_001079675.3:c.414C>G, NM_001079675.2:c.414C>G, NM_001986.4:c.414C>G, NM_001986.3:c.414C>G, NM_001986.2:c.414C>G, NM_001261437.3:c.297C>G, NM_001261437.2:c.297C>G, NM_001261437.1:c.297C>G, NM_001261438.3:c.297C>G, NM_001261438.2:c.297C>G, NM_001261438.1:c.297C>G, NM_001369366.2:c.414C>G, NM_001369366.1:c.414C>G, NM_001369367.2:c.411C>G, NM_001369367.1:c.411C>G, NM_001369368.2:c.414C>G, NM_001369368.1:c.414C>G, XM_047435593.1:c.-418C>G, NP_001073143.1:p.Ile138Met, NP_001977.1:p.Ile138Met, NP_001248366.1:p.Ile99Met, NP_001248367.1:p.Ile99Met, NP_001356295.1:p.Ile138Met, NP_001356296.1:p.Ile137Met, NP_001356297.1:p.Ile138Met

Select item 14760417504.

rs1476041750 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:43532791 (GRCh38)
17:41610159 (GRCh37)
Canonical SPDI:: NC_000017.11:43532790:G:T
Gene:: DHX8 (Varview), ETV4 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.43532791G>T, NC_000017.10:g.41610159G>T, NM_001079675.5:c.694C>A, NM_001079675.4:c.694C>A, NM_001079675.3:c.694C>A, NM_001079675.2:c.694C>A, NM_001986.4:c.694C>A, NM_001986.3:c.694C>A, NM_001986.2:c.694C>A, NM_001261437.3:c.577C>A, NM_001261437.2:c.577C>A, NM_001261437.1:c.577C>A, NM_001261438.3:c.577C>A, NM_001261438.2:c.577C>A, NM_001261438.1:c.577C>A, NM_001369366.2:c.694C>A, NM_001369366.1:c.694C>A, NM_001369367.2:c.691C>A, NM_001369367.1:c.691C>A, NM_001369368.2:c.694C>A, NM_001369368.1:c.694C>A, XM_047435593.1:c.-138C>A, NP_001073143.1:p.Pro232Thr, NP_001977.1:p.Pro232Thr, NP_001248366.1:p.Pro193Thr, NP_001248367.1:p.Pro193Thr, NP_001356295.1:p.Pro232Thr, NP_001356296.1:p.Pro231Thr, NP_001356297.1:p.Pro232Thr

Select item 14737991645.

rs1473799164 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:43529600 (GRCh38)
17:41606968 (GRCh37)
Canonical SPDI:: NC_000017.11:43529599:C:A
Gene:: DHX8 (Varview), ETV4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000017.11:g.43529600C>A, NC_000017.10:g.41606968C>A, NM_001079675.5:c.1032G>T, NM_001079675.4:c.1032G>T, NM_001079675.3:c.1032G>T, NM_001079675.2:c.1032G>T, NM_001986.4:c.1032G>T, NM_001986.3:c.1032G>T, NM_001986.2:c.1032G>T, NM_001261437.3:c.915G>T, NM_001261437.2:c.915G>T, NM_001261437.1:c.915G>T, NM_001261438.3:c.915G>T, NM_001261438.2:c.915G>T, NM_001261438.1:c.915G>T, NM_001261439.3:c.201G>T, NM_001261439.2:c.201G>T, NM_001261439.1:c.201G>T, NM_001369366.2:c.1032G>T, NM_001369366.1:c.1032G>T, NM_001369367.2:c.1029G>T, NM_001369367.1:c.1029G>T, NM_001369368.2:c.1017G>T, NM_001369368.1:c.1017G>T, XM_047435593.1:c.201G>T, XM_047435592.1:c.243G>T, NP_001073143.1:p.Trp344Cys, NP_001977.1:p.Trp344Cys, NP_001248366.1:p.Trp305Cys, NP_001248367.1:p.Trp305Cys, NP_001248368.1:p.Trp67Cys, NP_001356295.1:p.Trp344Cys, NP_001356296.1:p.Trp343Cys, NP_001356297.1:p.Trp339Cys, XP_047291549.1:p.Trp67Cys, XP_047291548.1:p.Trp81Cys

Select item 14727762356.

rs1472776235 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:43533942 (GRCh38)
17:41611310 (GRCh37)
Canonical SPDI:: NC_000017.11:43533941:C:T
Gene:: DHX8 (Varview), ETV4 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,synonymous_variant,upstream_transcript_variant
HGVS:: NC_000017.11:g.43533942C>T, NC_000017.10:g.41611310C>T, NM_001079675.5:c.300G>A, NM_001079675.4:c.300G>A, NM_001079675.3:c.300G>A, NM_001079675.2:c.300G>A, NM_001986.4:c.300G>A, NM_001986.3:c.300G>A, NM_001986.2:c.300G>A, NM_001261437.3:c.183G>A, NM_001261437.2:c.183G>A, NM_001261437.1:c.183G>A, NM_001261438.3:c.183G>A, NM_001261438.2:c.183G>A, NM_001261438.1:c.183G>A, NM_001369366.2:c.300G>A, NM_001369366.1:c.300G>A, NM_001369367.2:c.297G>A, NM_001369367.1:c.297G>A, NM_001369368.2:c.300G>A, NM_001369368.1:c.300G>A, XM_047435593.1:c.-532G>A

Select item 14724761827.

rs1472476182 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:43532742 (GRCh38)
17:41610110 (GRCh37)
Canonical SPDI:: NC_000017.11:43532741:T:C
Gene:: DHX8 (Varview), ETV4 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.43532742T>C, NC_000017.10:g.41610110T>C, NM_001079675.5:c.743A>G, NM_001079675.4:c.743A>G, NM_001079675.3:c.743A>G, NM_001079675.2:c.743A>G, NM_001986.4:c.743A>G, NM_001986.3:c.743A>G, NM_001986.2:c.743A>G, NM_001261437.3:c.626A>G, NM_001261437.2:c.626A>G, NM_001261437.1:c.626A>G, NM_001261438.3:c.626A>G, NM_001261438.2:c.626A>G, NM_001261438.1:c.626A>G, NM_001369366.2:c.743A>G, NM_001369366.1:c.743A>G, NM_001369367.2:c.740A>G, NM_001369367.1:c.740A>G, NM_001369368.2:c.743A>G, NM_001369368.1:c.743A>G, XM_047435593.1:c.-89A>G, NP_001073143.1:p.Asn248Ser, NP_001977.1:p.Asn248Ser, NP_001248366.1:p.Asn209Ser, NP_001248367.1:p.Asn209Ser, NP_001356295.1:p.Asn248Ser, NP_001356296.1:p.Asn247Ser, NP_001356297.1:p.Asn248Ser

Select item 14664559438.

rs1466455943 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:43533948 (GRCh38)
17:41611316 (GRCh37)
Canonical SPDI:: NC_000017.11:43533947:C:T
Gene:: DHX8 (Varview), ETV4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.43533948C>T, NC_000017.10:g.41611316C>T, NM_001079675.5:c.294G>A, NM_001079675.4:c.294G>A, NM_001079675.3:c.294G>A, NM_001079675.2:c.294G>A, NM_001986.4:c.294G>A, NM_001986.3:c.294G>A, NM_001986.2:c.294G>A, NM_001261437.3:c.177G>A, NM_001261437.2:c.177G>A, NM_001261437.1:c.177G>A, NM_001261438.3:c.177G>A, NM_001261438.2:c.177G>A, NM_001261438.1:c.177G>A, NM_001369366.2:c.294G>A, NM_001369366.1:c.294G>A, NM_001369367.2:c.291G>A, NM_001369367.1:c.291G>A, NM_001369368.2:c.294G>A, NM_001369368.1:c.294G>A, XM_047435593.1:c.-538G>A

Select item 14646115089.

rs1464611508 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:43536471 (GRCh38)
17:41613839 (GRCh37)
Canonical SPDI:: NC_000017.11:43536470:G:A,NC_000017.11:43536470:G:C
Gene:: DHX8 (Varview), ETV4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.43536471G>A, NC_000017.11:g.43536471G>C, NC_000017.10:g.41613839G>A, NC_000017.10:g.41613839G>C, NM_001079675.5:c.211C>T, NM_001079675.5:c.211C>G, NM_001079675.4:c.211C>T, NM_001079675.4:c.211C>G, NM_001079675.3:c.211C>T, NM_001079675.3:c.211C>G, NM_001079675.2:c.211C>T, NM_001079675.2:c.211C>G, NM_001986.4:c.211C>T, NM_001986.4:c.211C>G, NM_001986.3:c.211C>T, NM_001986.3:c.211C>G, NM_001986.2:c.211C>T, NM_001986.2:c.211C>G, NM_001261437.3:c.94C>T, NM_001261437.3:c.94C>G, NM_001261437.2:c.94C>T, NM_001261437.2:c.94C>G, NM_001261437.1:c.94C>T, NM_001261437.1:c.94C>G, NM_001261438.3:c.94C>T, NM_001261438.3:c.94C>G, NM_001261438.2:c.94C>T, NM_001261438.2:c.94C>G, NM_001261438.1:c.94C>T, NM_001261438.1:c.94C>G, NM_001322219.2:c.3503G>A, NM_001322219.2:c.3503G>C, NM_001322219.1:c.3503G>A, NM_001322219.1:c.3503G>C, NM_001369366.2:c.211C>T, NM_001369366.2:c.211C>G, NM_001369366.1:c.211C>T, NM_001369366.1:c.211C>G, NM_001369367.2:c.211C>T, NM_001369367.2:c.211C>G, NM_001369367.1:c.211C>T, NM_001369367.1:c.211C>G, NM_001369368.2:c.211C>T, NM_001369368.2:c.211C>G, NM_001369368.1:c.211C>T, NM_001369368.1:c.211C>G, XR_007065278.1:n.3566G>A, XR_007065278.1:n.3566G>C, XR_007065279.1:n.3566G>A, XR_007065279.1:n.3566G>C, XM_047435514.1:c.3503G>A, XM_047435514.1:c.3503G>C, XM_047435516.1:c.3497G>A, XM_047435516.1:c.3497G>C, XM_047435515.1:c.3503G>A, XM_047435515.1:c.3503G>C, XM_047435593.1:c.-621C>T, XM_047435593.1:c.-621C>G, NP_001073143.1:p.Pro71Ser, NP_001073143.1:p.Pro71Ala, NP_001977.1:p.Pro71Ser, NP_001977.1:p.Pro71Ala, NP_001248366.1:p.Pro32Ser, NP_001248366.1:p.Pro32Ala, NP_001248367.1:p.Pro32Ser, NP_001248367.1:p.Pro32Ala, NP_001309148.1:p.Gly1168Asp, NP_001309148.1:p.Gly1168Ala, NP_001356295.1:p.Pro71Ser, NP_001356295.1:p.Pro71Ala, NP_001356296.1:p.Pro71Ser, NP_001356296.1:p.Pro71Ala, NP_001356297.1:p.Pro71Ser, NP_001356297.1:p.Pro71Ala, XP_047291470.1:p.Gly1168Asp, XP_047291470.1:p.Gly1168Ala, XP_047291472.1:p.Gly1166Asp, XP_047291472.1:p.Gly1166Ala, XP_047291471.1:p.Gly1168Asp, XP_047291471.1:p.Gly1168Ala

Select item 146426767110.

rs1464267671 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:43529140 (GRCh38)
17:41606508 (GRCh37)
Canonical SPDI:: NC_000017.11:43529139:G:A
Gene:: DHX8 (Varview), ETV4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,stop_gained,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.43529140G>A, NC_000017.10:g.41606508G>A, NM_001079675.5:c.1225C>T, NM_001079675.4:c.1225C>T, NM_001079675.3:c.1225C>T, NM_001079675.2:c.1225C>T, NM_001986.4:c.1225C>T, NM_001986.3:c.1225C>T, NM_001986.2:c.1225C>T, NM_001261437.3:c.1108C>T, NM_001261437.2:c.1108C>T, NM_001261437.1:c.1108C>T, NM_001261438.3:c.1108C>T, NM_001261438.2:c.1108C>T, NM_001261438.1:c.1108C>T, NM_001261439.3:c.394C>T, NM_001261439.2:c.394C>T, NM_001261439.1:c.394C>T, NM_001369366.2:c.1225C>T, NM_001369366.1:c.1225C>T, NM_001369367.2:c.1222C>T, NM_001369367.1:c.1222C>T, NM_001369368.2:c.1210C>T, NM_001369368.1:c.1210C>T, XM_047435593.1:c.394C>T, XM_047435592.1:c.436C>T, NP_001073143.1:p.Gln409Ter, NP_001977.1:p.Gln409Ter, NP_001248366.1:p.Gln370Ter, NP_001248367.1:p.Gln370Ter, NP_001248368.1:p.Gln132Ter, NP_001356295.1:p.Gln409Ter, NP_001356296.1:p.Gln408Ter, NP_001356297.1:p.Gln404Ter, XP_047291549.1:p.Gln132Ter, XP_047291548.1:p.Gln146Ter

Select item 146381228011.

rs1463812280 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:43533266 (GRCh38)
17:41610634 (GRCh37)
Canonical SPDI:: NC_000017.11:43533265:G:A
Gene:: DHX8 (Varview), ETV4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000017.11:g.43533266G>A, NC_000017.10:g.41610634G>A, NM_001079675.5:c.466C>T, NM_001079675.4:c.466C>T, NM_001079675.3:c.466C>T, NM_001079675.2:c.466C>T, NM_001986.4:c.466C>T, NM_001986.3:c.466C>T, NM_001986.2:c.466C>T, NM_001261437.3:c.349C>T, NM_001261437.2:c.349C>T, NM_001261437.1:c.349C>T, NM_001261438.3:c.349C>T, NM_001261438.2:c.349C>T, NM_001261438.1:c.349C>T, NM_001369366.2:c.466C>T, NM_001369366.1:c.466C>T, NM_001369367.2:c.463C>T, NM_001369367.1:c.463C>T, NM_001369368.2:c.466C>T, NM_001369368.1:c.466C>T, XM_047435593.1:c.-366C>T, XM_047435592.1:c.-58C>T, NP_001073143.1:p.Arg156Trp, NP_001977.1:p.Arg156Trp, NP_001248366.1:p.Arg117Trp, NP_001248367.1:p.Arg117Trp, NP_001356295.1:p.Arg156Trp, NP_001356296.1:p.Arg155Trp, NP_001356297.1:p.Arg156Trp

Select item 146143430512.

rs1461434305 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:43533238 (GRCh38)
17:41610606 (GRCh37)
Canonical SPDI:: NC_000017.11:43533237:G:A
Gene:: DHX8 (Varview), ETV4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.43533238G>A, NC_000017.10:g.41610606G>A, NM_001079675.5:c.494C>T, NM_001079675.4:c.494C>T, NM_001079675.3:c.494C>T, NM_001079675.2:c.494C>T, NM_001986.4:c.494C>T, NM_001986.3:c.494C>T, NM_001986.2:c.494C>T, NM_001261437.3:c.377C>T, NM_001261437.2:c.377C>T, NM_001261437.1:c.377C>T, NM_001261438.3:c.377C>T, NM_001261438.2:c.377C>T, NM_001261438.1:c.377C>T, NM_001369366.2:c.494C>T, NM_001369366.1:c.494C>T, NM_001369367.2:c.491C>T, NM_001369367.1:c.491C>T, NM_001369368.2:c.494C>T, NM_001369368.1:c.494C>T, XM_047435593.1:c.-338C>T, XM_047435592.1:c.-30C>T, NP_001073143.1:p.Ser165Phe, NP_001977.1:p.Ser165Phe, NP_001248366.1:p.Ser126Phe, NP_001248367.1:p.Ser126Phe, NP_001356295.1:p.Ser165Phe, NP_001356296.1:p.Ser164Phe, NP_001356297.1:p.Ser165Phe

Select item 145888604313.

rs1458886043 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:43533982 (GRCh38)
17:41611350 (GRCh37)
Canonical SPDI:: NC_000017.11:43533981:G:A,NC_000017.11:43533981:G:T
Gene:: DHX8 (Varview), ETV4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.43533982G>A, NC_000017.11:g.43533982G>T, NC_000017.10:g.41611350G>A, NC_000017.10:g.41611350G>T, NM_001079675.5:c.260C>T, NM_001079675.5:c.260C>A, NM_001079675.4:c.260C>T, NM_001079675.4:c.260C>A, NM_001079675.3:c.260C>T, NM_001079675.3:c.260C>A, NM_001079675.2:c.260C>T, NM_001079675.2:c.260C>A, NM_001986.4:c.260C>T, NM_001986.4:c.260C>A, NM_001986.3:c.260C>T, NM_001986.3:c.260C>A, NM_001986.2:c.260C>T, NM_001986.2:c.260C>A, NM_001261437.3:c.143C>T, NM_001261437.3:c.143C>A, NM_001261437.2:c.143C>T, NM_001261437.2:c.143C>A, NM_001261437.1:c.143C>T, NM_001261437.1:c.143C>A, NM_001261438.3:c.143C>T, NM_001261438.3:c.143C>A, NM_001261438.2:c.143C>T, NM_001261438.2:c.143C>A, NM_001261438.1:c.143C>T, NM_001261438.1:c.143C>A, NM_001369366.2:c.260C>T, NM_001369366.2:c.260C>A, NM_001369366.1:c.260C>T, NM_001369366.1:c.260C>A, NM_001369367.2:c.257C>T, NM_001369367.2:c.257C>A, NM_001369367.1:c.257C>T, NM_001369367.1:c.257C>A, NM_001369368.2:c.260C>T, NM_001369368.2:c.260C>A, NM_001369368.1:c.260C>T, NM_001369368.1:c.260C>A, XM_047435593.1:c.-572C>T, XM_047435593.1:c.-572C>A, NP_001073143.1:p.Ala87Val, NP_001073143.1:p.Ala87Asp, NP_001977.1:p.Ala87Val, NP_001977.1:p.Ala87Asp, NP_001248366.1:p.Ala48Val, NP_001248366.1:p.Ala48Asp, NP_001248367.1:p.Ala48Val, NP_001248367.1:p.Ala48Asp, NP_001356295.1:p.Ala87Val, NP_001356295.1:p.Ala87Asp, NP_001356296.1:p.Pro86Leu, NP_001356296.1:p.Pro86His, NP_001356297.1:p.Ala87Val, NP_001356297.1:p.Ala87Asp

Select item 145540226914.

rs1455402269 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:43533336 (GRCh38)
17:41610704 (GRCh37)
Canonical SPDI:: NC_000017.11:43533335:G:A
Gene:: DHX8 (Varview), ETV4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.43533336G>A, NC_000017.10:g.41610704G>A, NM_001079675.5:c.396C>T, NM_001079675.4:c.396C>T, NM_001079675.3:c.396C>T, NM_001079675.2:c.396C>T, NM_001986.4:c.396C>T, NM_001986.3:c.396C>T, NM_001986.2:c.396C>T, NM_001261437.3:c.279C>T, NM_001261437.2:c.279C>T, NM_001261437.1:c.279C>T, NM_001261438.3:c.279C>T, NM_001261438.2:c.279C>T, NM_001261438.1:c.279C>T, NM_001369366.2:c.396C>T, NM_001369366.1:c.396C>T, NM_001369367.2:c.393C>T, NM_001369367.1:c.393C>T, NM_001369368.2:c.396C>T, NM_001369368.1:c.396C>T, XM_047435593.1:c.-436C>T

Select item 145427880915.

rs1454278809 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:43532751 (GRCh38)
17:41610119 (GRCh37)
Canonical SPDI:: NC_000017.11:43532750:C:A
Gene:: DHX8 (Varview), ETV4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,intron_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)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.43532751C>A, NC_000017.10:g.41610119C>A, NM_001079675.5:c.734G>T, NM_001079675.4:c.734G>T, NM_001079675.3:c.734G>T, NM_001079675.2:c.734G>T, NM_001986.4:c.734G>T, NM_001986.3:c.734G>T, NM_001986.2:c.734G>T, NM_001261437.3:c.617G>T, NM_001261437.2:c.617G>T, NM_001261437.1:c.617G>T, NM_001261438.3:c.617G>T, NM_001261438.2:c.617G>T, NM_001261438.1:c.617G>T, NM_001369366.2:c.734G>T, NM_001369366.1:c.734G>T, NM_001369367.2:c.731G>T, NM_001369367.1:c.731G>T, NM_001369368.2:c.734G>T, NM_001369368.1:c.734G>T, XM_047435593.1:c.-98G>T, NP_001073143.1:p.Gly245Val, NP_001977.1:p.Gly245Val, NP_001248366.1:p.Gly206Val, NP_001248367.1:p.Gly206Val, NP_001356295.1:p.Gly245Val, NP_001356296.1:p.Gly244Val, NP_001356297.1:p.Gly245Val

Select item 145157560416.

rs1451575604 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:43528711 (GRCh38)
17:41606079 (GRCh37)
Canonical SPDI:: NC_000017.11:43528710:C:A,NC_000017.11:43528710:C:T
Gene:: DHX8 (Varview), ETV4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.43528711C>A, NC_000017.11:g.43528711C>T, NC_000017.10:g.41606079C>A, NC_000017.10:g.41606079C>T, NM_001079675.5:c.1263G>T, NM_001079675.5:c.1263G>A, NM_001079675.4:c.1263G>T, NM_001079675.4:c.1263G>A, NM_001079675.3:c.1263G>T, NM_001079675.3:c.1263G>A, NM_001079675.2:c.1263G>T, NM_001079675.2:c.1263G>A, NM_001986.4:c.1263G>T, NM_001986.4:c.1263G>A, NM_001986.3:c.1263G>T, NM_001986.3:c.1263G>A, NM_001986.2:c.1263G>T, NM_001986.2:c.1263G>A, NM_001261437.3:c.1146G>T, NM_001261437.3:c.1146G>A, NM_001261437.2:c.1146G>T, NM_001261437.2:c.1146G>A, NM_001261437.1:c.1146G>T, NM_001261437.1:c.1146G>A, NM_001261438.3:c.1146G>T, NM_001261438.3:c.1146G>A, NM_001261438.2:c.1146G>T, NM_001261438.2:c.1146G>A, NM_001261438.1:c.1146G>T, NM_001261438.1:c.1146G>A, NM_001261439.3:c.432G>T, NM_001261439.3:c.432G>A, NM_001261439.2:c.432G>T, NM_001261439.2:c.432G>A, NM_001261439.1:c.432G>T, NM_001261439.1:c.432G>A, NM_001369366.2:c.1263G>T, NM_001369366.2:c.1263G>A, NM_001369366.1:c.1263G>T, NM_001369366.1:c.1263G>A, NM_001369367.2:c.1260G>T, NM_001369367.2:c.1260G>A, NM_001369367.1:c.1260G>T, NM_001369367.1:c.1260G>A, NM_001369368.2:c.1248G>T, NM_001369368.2:c.1248G>A, NM_001369368.1:c.1248G>T, NM_001369368.1:c.1248G>A, XM_047435593.1:c.432G>T, XM_047435593.1:c.432G>A, XM_047435592.1:c.474G>T, XM_047435592.1:c.474G>A

Select item 144771708117.

rs1447717081 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:43529637 (GRCh38)
17:41607005 (GRCh37)
Canonical SPDI:: NC_000017.11:43529636:C:A
Gene:: DHX8 (Varview), ETV4 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.43529637C>A, NC_000017.10:g.41607005C>A, NM_001079675.5:c.995G>T, NM_001079675.4:c.995G>T, NM_001079675.3:c.995G>T, NM_001079675.2:c.995G>T, NM_001986.4:c.995G>T, NM_001986.3:c.995G>T, NM_001986.2:c.995G>T, NM_001261437.3:c.878G>T, NM_001261437.2:c.878G>T, NM_001261437.1:c.878G>T, NM_001261438.3:c.878G>T, NM_001261438.2:c.878G>T, NM_001261438.1:c.878G>T, NM_001261439.3:c.164G>T, NM_001261439.2:c.164G>T, NM_001261439.1:c.164G>T, NM_001369366.2:c.995G>T, NM_001369366.1:c.995G>T, NM_001369367.2:c.992G>T, NM_001369367.1:c.992G>T, NM_001369368.2:c.980G>T, NM_001369368.1:c.980G>T, XM_047435593.1:c.164G>T, XM_047435592.1:c.206G>T, NP_001073143.1:p.Gly332Val, NP_001977.1:p.Gly332Val, NP_001248366.1:p.Gly293Val, NP_001248367.1:p.Gly293Val, NP_001248368.1:p.Gly55Val, NP_001356295.1:p.Gly332Val, NP_001356296.1:p.Gly331Val, NP_001356297.1:p.Gly327Val, XP_047291549.1:p.Gly55Val, XP_047291548.1:p.Gly69Val

Select item 144759343218.

rs1447593432 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:43532852 (GRCh38)
17:41610220 (GRCh37)
Canonical SPDI:: NC_000017.11:43532851:G:A
Gene:: DHX8 (Varview), ETV4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_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_000017.11:g.43532852G>A, NC_000017.10:g.41610220G>A, NM_001079675.5:c.633C>T, NM_001079675.4:c.633C>T, NM_001079675.3:c.633C>T, NM_001079675.2:c.633C>T, NM_001986.4:c.633C>T, NM_001986.3:c.633C>T, NM_001986.2:c.633C>T, NM_001261437.3:c.516C>T, NM_001261437.2:c.516C>T, NM_001261437.1:c.516C>T, NM_001261438.3:c.516C>T, NM_001261438.2:c.516C>T, NM_001261438.1:c.516C>T, NM_001369366.2:c.633C>T, NM_001369366.1:c.633C>T, NM_001369367.2:c.630C>T, NM_001369367.1:c.630C>T, NM_001369368.2:c.633C>T, NM_001369368.1:c.633C>T, XM_047435593.1:c.-199C>T

Select item 144675474819.

rs1446754748 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:43532834 (GRCh38)
17:41610202 (GRCh37)
Canonical SPDI:: NC_000017.11:43532833:G:C
Gene:: DHX8 (Varview), ETV4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.43532834G>C, NC_000017.10:g.41610202G>C, NM_001079675.5:c.651C>G, NM_001079675.4:c.651C>G, NM_001079675.3:c.651C>G, NM_001079675.2:c.651C>G, NM_001986.4:c.651C>G, NM_001986.3:c.651C>G, NM_001986.2:c.651C>G, NM_001261437.3:c.534C>G, NM_001261437.2:c.534C>G, NM_001261437.1:c.534C>G, NM_001261438.3:c.534C>G, NM_001261438.2:c.534C>G, NM_001261438.1:c.534C>G, NM_001369366.2:c.651C>G, NM_001369366.1:c.651C>G, NM_001369367.2:c.648C>G, NM_001369367.1:c.648C>G, NM_001369368.2:c.651C>G, NM_001369368.1:c.651C>G, XM_047435593.1:c.-181C>G, NP_001073143.1:p.Cys217Trp, NP_001977.1:p.Cys217Trp, NP_001248366.1:p.Cys178Trp, NP_001248367.1:p.Cys178Trp, NP_001356295.1:p.Cys217Trp, NP_001356296.1:p.Cys216Trp, NP_001356297.1:p.Cys217Trp

Select item 144635988820.

rs1446359888 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:43533199 (GRCh38)
17:41610567 (GRCh37)
Canonical SPDI:: NC_000017.11:43533198:A:T
Gene:: DHX8 (Varview), ETV4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.43533199A>T, NC_000017.10:g.41610567A>T, NM_001079675.5:c.533T>A, NM_001079675.4:c.533T>A, NM_001079675.3:c.533T>A, NM_001079675.2:c.533T>A, NM_001986.4:c.533T>A, NM_001986.3:c.533T>A, NM_001986.2:c.533T>A, NM_001261437.3:c.416T>A, NM_001261437.2:c.416T>A, NM_001261437.1:c.416T>A, NM_001261438.3:c.416T>A, NM_001261438.2:c.416T>A, NM_001261438.1:c.416T>A, NM_001369366.2:c.533T>A, NM_001369366.1:c.533T>A, NM_001369367.2:c.530T>A, NM_001369367.1:c.530T>A, NM_001369368.2:c.533T>A, NM_001369368.1:c.533T>A, XM_047435593.1:c.-299T>A, XM_047435592.1:c.10T>A, NP_001073143.1:p.Leu178His, NP_001977.1:p.Leu178His, NP_001248366.1:p.Leu139His, NP_001248367.1:p.Leu139His, NP_001356295.1:p.Leu178His, NP_001356296.1:p.Leu177His, NP_001356297.1:p.Leu178His, XP_047291548.1:p.Ser4Thr

<< First< Prev

Page of 24

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 465

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity