SNP Links for Protein (Select 4504859) - SNP

Links from Protein

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Select item 14856895031.

rs1485689503 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:43774196 (GRCh38)
19:44278348 (GRCh37)
Canonical SPDI:: NC_000019.10:43774195:C:T
Gene:: KCNN4 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
HGVS:: NC_000019.10:g.43774196C>T, NC_000019.9:g.44278348C>T, NG_052672.1:g.12944G>A, NM_002250.3:c.679G>A, NM_002250.2:c.679G>A, XM_005258883.3:c.494G>A, XM_005258883.2:c.494G>A, XM_005258883.1:c.494G>A, XM_005258882.3:c.583G>A, XM_005258882.2:c.583G>A, XM_005258882.1:c.583G>A, XR_935823.2:n.791G>A, XR_935823.1:n.1957G>A, XM_047438793.1:c.679G>A, NP_002241.1:p.Glu227Lys, XP_005258940.1:p.Arg165Gln, XP_005258939.1:p.Glu195Lys, XP_047294749.1:p.Glu227Lys

Select item 14845051532.

rs1484505153 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:43767600 (GRCh38)
19:44271752 (GRCh37)
Canonical SPDI:: NC_000019.10:43767599:C:T
Gene:: KCNN4 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.43767600C>T, NC_000019.9:g.44271752C>T, NG_052672.1:g.19540G>A, NM_002250.3:c.1227G>A, NM_002250.2:c.1227G>A, XM_005258883.3:c.1038G>A, XM_005258883.2:c.1038G>A, XM_005258883.1:c.1038G>A, XM_005258882.3:c.1131G>A, XM_005258882.2:c.1131G>A, XM_005258882.1:c.1131G>A, XM_047438794.1:c.555G>A

Select item 14823773923.

rs1482377392 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:43774269 (GRCh38)
19:44278421 (GRCh37)
Canonical SPDI:: NC_000019.10:43774268:C:T
Gene:: KCNN4 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
HGVS:: NC_000019.10:g.43774269C>T, NC_000019.9:g.44278421C>T, NG_052672.1:g.12871G>A, NM_002250.3:c.606G>A, NM_002250.2:c.606G>A, XM_005258883.3:c.421G>A, XM_005258883.2:c.421G>A, XM_005258883.1:c.421G>A, XM_005258882.3:c.510G>A, XM_005258882.2:c.510G>A, XM_005258882.1:c.510G>A, XR_935823.2:n.718G>A, XR_935823.1:n.1884G>A, XM_047438793.1:c.606G>A, XP_005258940.1:p.Ala141Thr

Select item 14787473704.

rs1478747370 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:43780808 (GRCh38)
19:44284960 (GRCh37)
Canonical SPDI:: NC_000019.10:43780807:C:G
Gene:: KCNN4 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.43780808C>G, NC_000019.9:g.44284960C>G, NG_052672.1:g.6332G>C, NM_002250.3:c.54G>C, NM_002250.2:c.54G>C, XM_005258883.3:c.-132G>C, XM_005258883.2:c.-132G>C, XM_005258883.1:c.-132G>C, XM_005258882.3:c.54G>C, XM_005258882.2:c.54G>C, XM_005258882.1:c.54G>C, XR_935823.2:n.166G>C, XR_935823.1:n.1332G>C, XM_047438793.1:c.54G>C, NP_002241.1:p.Leu18Phe, XP_005258939.1:p.Leu18Phe, XP_047294749.1:p.Leu18Phe

Select item 14761139775.

rs1476113977 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:43774457 (GRCh38)
19:44278609 (GRCh37)
Canonical SPDI:: NC_000019.10:43774456:G:T
Gene:: KCNN4 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/3 (GnomAD_exomes)
T=0.000283/5 (TOMMO)
T=0.000342/1 (KOREAN)
HGVS:: NC_000019.10:g.43774457G>T, NC_000019.9:g.44278609G>T, NG_052672.1:g.12683C>A, NM_002250.3:c.418C>A, NM_002250.2:c.418C>A, XM_005258883.3:c.233C>A, XM_005258883.2:c.233C>A, XM_005258883.1:c.233C>A, XM_005258882.3:c.322C>A, XM_005258882.2:c.322C>A, XM_005258882.1:c.322C>A, XR_935823.2:n.530C>A, XR_935823.1:n.1696C>A, XM_047438793.1:c.418C>A, NP_002241.1:p.Pro140Thr, XP_005258940.1:p.Ala78Asp, XP_005258939.1:p.Pro108Thr, XP_047294749.1:p.Pro140Thr

Select item 14685458396.

rs1468545839 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:43780800 (GRCh38)
19:44284952 (GRCh37)
Canonical SPDI:: NC_000019.10:43780799:T:C
Gene:: KCNN4 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.43780800T>C, NC_000019.9:g.44284952T>C, NG_052672.1:g.6340A>G, NM_002250.3:c.62A>G, NM_002250.2:c.62A>G, XM_005258883.3:c.-124A>G, XM_005258883.2:c.-124A>G, XM_005258883.1:c.-124A>G, XM_005258882.3:c.62A>G, XM_005258882.2:c.62A>G, XM_005258882.1:c.62A>G, XR_935823.2:n.174A>G, XR_935823.1:n.1340A>G, XM_047438793.1:c.62A>G, NP_002241.1:p.Gln21Arg, XP_005258939.1:p.Gln21Arg, XP_047294749.1:p.Gln21Arg

Select item 14681306467.

rs1468130646 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:43768973 (GRCh38)
19:44273125 (GRCh37)
Canonical SPDI:: NC_000019.10:43768972:T:A
Gene:: KCNN4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000019.10:g.43768973T>A, NC_000019.9:g.44273125T>A, NG_052672.1:g.18167A>T, NM_002250.3:c.1109A>T, NM_002250.2:c.1109A>T, XM_005258883.3:c.920A>T, XM_005258883.2:c.920A>T, XM_005258883.1:c.920A>T, XM_005258882.3:c.1013A>T, XM_005258882.2:c.1013A>T, XM_005258882.1:c.1013A>T, XM_047438794.1:c.437A>T, NP_002241.1:p.Asp370Val, XP_005258940.1:p.Asp307Val, XP_005258939.1:p.Asp338Val, XP_047294750.1:p.Asp146Val

Select item 14666174488.

rs1466617448 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:43767668 (GRCh38)
19:44271820 (GRCh37)
Canonical SPDI:: NC_000019.10:43767667:T:G
Gene:: KCNN4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.43767668T>G, NC_000019.9:g.44271820T>G, NG_052672.1:g.19472A>C, NM_002250.3:c.1159A>C, NM_002250.2:c.1159A>C, XM_005258883.3:c.970A>C, XM_005258883.2:c.970A>C, XM_005258883.1:c.970A>C, XM_005258882.3:c.1063A>C, XM_005258882.2:c.1063A>C, XM_005258882.1:c.1063A>C, XM_047438794.1:c.487A>C, NP_002241.1:p.Ser387Arg, XP_005258940.1:p.Ser324Arg, XP_005258939.1:p.Ser355Arg, XP_047294750.1:p.Ser163Arg

Select item 14651870849.

rs1465187084 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:43774318 (GRCh38)
19:44278470 (GRCh37)
Canonical SPDI:: NC_000019.10:43774317:T:C
Gene:: KCNN4 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000019.10:g.43774318T>C, NC_000019.9:g.44278470T>C, NG_052672.1:g.12822A>G, NM_002250.3:c.557A>G, NM_002250.2:c.557A>G, XM_005258883.3:c.372A>G, XM_005258883.2:c.372A>G, XM_005258883.1:c.372A>G, XM_005258882.3:c.461A>G, XM_005258882.2:c.461A>G, XM_005258882.1:c.461A>G, XR_935823.2:n.669A>G, XR_935823.1:n.1835A>G, XM_047438793.1:c.557A>G, NP_002241.1:p.Asn186Ser, XP_005258939.1:p.Asn154Ser, XP_047294749.1:p.Asn186Ser

Select item 146330177210.

rs1463301772 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:43774452 (GRCh38)
19:44278604 (GRCh37)
Canonical SPDI:: NC_000019.10:43774451:C:T
Gene:: KCNN4 (Varview)
Functional Consequence:: upstream_transcript_variant,stop_gained,missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.43774452C>T, NC_000019.9:g.44278604C>T, NG_052672.1:g.12688G>A, NM_002250.3:c.423G>A, NM_002250.2:c.423G>A, XM_005258883.3:c.238G>A, XM_005258883.2:c.238G>A, XM_005258883.1:c.238G>A, XM_005258882.3:c.327G>A, XM_005258882.2:c.327G>A, XM_005258882.1:c.327G>A, XR_935823.2:n.535G>A, XR_935823.1:n.1701G>A, XM_047438793.1:c.423G>A, NP_002241.1:p.Trp141Ter, XP_005258940.1:p.Ala80Thr, XP_005258939.1:p.Trp109Ter, XP_047294749.1:p.Trp141Ter

Select item 146274560311.

rs1462745603 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:43776547 (GRCh38)
19:44280699 (GRCh37)
Canonical SPDI:: NC_000019.10:43776546:C:T
Gene:: KCNN4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,synonymous_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=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.43776547C>T, NC_000019.9:g.44280699C>T, NG_052672.1:g.10593G>A, NM_002250.3:c.249G>A, NM_002250.2:c.249G>A, XM_005258883.3:c.64G>A, XM_005258883.2:c.64G>A, XM_005258883.1:c.64G>A, XR_935823.2:n.361G>A, XR_935823.1:n.1527G>A, XM_047438793.1:c.249G>A, XP_005258940.1:p.Gly22Ser

Select item 146218785912.

rs1462187859 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:43780717 (GRCh38)
19:44284869 (GRCh37)
Canonical SPDI:: NC_000019.10:43780716:A:G
Gene:: KCNN4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.43780717A>G, NC_000019.9:g.44284869A>G, NG_052672.1:g.6423T>C, NM_002250.3:c.145T>C, NM_002250.2:c.145T>C, XM_005258883.3:c.-41T>C, XM_005258883.2:c.-41T>C, XM_005258883.1:c.-41T>C, XM_005258882.3:c.145T>C, XM_005258882.2:c.145T>C, XM_005258882.1:c.145T>C, XR_935823.2:n.257T>C, XR_935823.1:n.1423T>C, XM_047438793.1:c.145T>C, NP_002241.1:p.Phe49Leu, XP_005258939.1:p.Phe49Leu, XP_047294749.1:p.Phe49Leu

Select item 145819003713.

rs1458190037 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:43769492 (GRCh38)
19:44273644 (GRCh37)
Canonical SPDI:: NC_000019.10:43769491:C:T
Gene:: KCNN4 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.43769492C>T, NC_000019.9:g.44273644C>T, NG_052672.1:g.17648G>A, NM_002250.3:c.999G>A, NM_002250.2:c.999G>A, XM_005258883.3:c.810G>A, XM_005258883.2:c.810G>A, XM_005258883.1:c.810G>A, XM_005258882.3:c.903G>A, XM_005258882.2:c.903G>A, XM_005258882.1:c.903G>A, XM_047438794.1:c.327G>A

Select item 145397432814.

rs1453974328 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:43776629 (GRCh38)
19:44280781 (GRCh37)
Canonical SPDI:: NC_000019.10:43776628:A:G
Gene:: KCNN4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_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_000019.10:g.43776629A>G, NC_000019.9:g.44280781A>G, NG_052672.1:g.10511T>C, NM_002250.3:c.167T>C, NM_002250.2:c.167T>C, XM_005258883.3:c.-19T>C, XM_005258883.2:c.-19T>C, XM_005258883.1:c.-19T>C, XR_935823.2:n.279T>C, XR_935823.1:n.1445T>C, XM_047438793.1:c.167T>C, NP_002241.1:p.Leu56Pro, XP_047294749.1:p.Leu56Pro

Select item 145391500915.

rs1453915009 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:43774498 (GRCh38)
19:44278650 (GRCh37)
Canonical SPDI:: NC_000019.10:43774497:G:A
Gene:: KCNN4 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000019.10:g.43774498G>A, NC_000019.9:g.44278650G>A, NG_052672.1:g.12642C>T, NM_002250.3:c.377C>T, NM_002250.2:c.377C>T, XM_005258883.3:c.192C>T, XM_005258883.2:c.192C>T, XM_005258883.1:c.192C>T, XM_005258882.3:c.281C>T, XM_005258882.2:c.281C>T, XM_005258882.1:c.281C>T, XR_935823.2:n.489C>T, XR_935823.1:n.1655C>T, XM_047438793.1:c.377C>T, NP_002241.1:p.Pro126Leu, XP_005258939.1:p.Pro94Leu, XP_047294749.1:p.Pro126Leu

Select item 145158837516.

rs1451588375 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:43769780 (GRCh38)
19:44273932 (GRCh37)
Canonical SPDI:: NC_000019.10:43769779:T:C
Gene:: KCNN4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.43769780T>C, NC_000019.9:g.44273932T>C, NG_052672.1:g.17360A>G, NM_002250.3:c.869A>G, NM_002250.2:c.869A>G, XM_005258883.3:c.680A>G, XM_005258883.2:c.680A>G, XM_005258883.1:c.680A>G, XM_005258882.3:c.773A>G, XM_005258882.2:c.773A>G, XM_005258882.1:c.773A>G, XR_935823.2:n.949A>G, XR_935823.1:n.2115A>G, XM_047438794.1:c.197A>G, NP_002241.1:p.Glu290Gly, XP_005258940.1:p.Glu227Gly, XP_005258939.1:p.Glu258Gly, XP_047294750.1:p.Glu66Gly

Select item 144723763717.

rs1447237637 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:43774419 (GRCh38)
19:44278571 (GRCh37)
Canonical SPDI:: NC_000019.10:43774418:C:T
Gene:: KCNN4 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.43774419C>T, NC_000019.9:g.44278571C>T, NG_052672.1:g.12721G>A, NM_002250.3:c.456G>A, NM_002250.2:c.456G>A, XM_005258883.3:c.271G>A, XM_005258883.2:c.271G>A, XM_005258883.1:c.271G>A, XM_005258882.3:c.360G>A, XM_005258882.2:c.360G>A, XM_005258882.1:c.360G>A, XR_935823.2:n.568G>A, XR_935823.1:n.1734G>A, XM_047438793.1:c.456G>A, XP_005258940.1:p.Val91Ile

Select item 144427112918.

rs1444271129 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:43774387 (GRCh38)
19:44278539 (GRCh37)
Canonical SPDI:: NC_000019.10:43774386:A:C,NC_000019.10:43774386:A:G
Gene:: KCNN4 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000009/2 (GnomAD_exomes)
C=0.000549/1 (Korea1K)
HGVS:: NC_000019.10:g.43774387A>C, NC_000019.10:g.43774387A>G, NC_000019.9:g.44278539A>C, NC_000019.9:g.44278539A>G, NG_052672.1:g.12753T>G, NG_052672.1:g.12753T>C, NM_002250.3:c.488T>G, NM_002250.3:c.488T>C, NM_002250.2:c.488T>G, NM_002250.2:c.488T>C, XM_005258883.3:c.303T>G, XM_005258883.3:c.303T>C, XM_005258883.2:c.303T>G, XM_005258883.2:c.303T>C, XM_005258883.1:c.303T>G, XM_005258883.1:c.303T>C, XM_005258882.3:c.392T>G, XM_005258882.3:c.392T>C, XM_005258882.2:c.392T>G, XM_005258882.2:c.392T>C, XM_005258882.1:c.392T>G, XM_005258882.1:c.392T>C, XR_935823.2:n.600T>G, XR_935823.2:n.600T>C, XR_935823.1:n.1766T>G, XR_935823.1:n.1766T>C, XM_047438793.1:c.488T>G, XM_047438793.1:c.488T>C, NP_002241.1:p.Val163Gly, NP_002241.1:p.Val163Ala, XP_005258939.1:p.Val131Gly, XP_005258939.1:p.Val131Ala, XP_047294749.1:p.Val163Gly, XP_047294749.1:p.Val163Ala

Select item 144187866519.

rs1441878665 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:43774526 (GRCh38)
19:44278679 (GRCh37)
Canonical SPDI:: NC_000019.10:43774526:CCC:CCCC
Gene:: KCNN4 (Varview)
Functional Consequence:: upstream_transcript_variant,frameshift_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CCCC=0./0 (ALFA)
HGVS:: NC_000019.10:g.43774529dup, NC_000019.9:g.44278681dup, NG_052672.1:g.12613dup, NM_002250.3:c.348dup, NM_002250.2:c.348dup, XM_005258883.3:c.163dup, XM_005258883.2:c.163dup, XM_005258883.1:c.163dup, XM_005258882.3:c.252dup, XM_005258882.2:c.252dup, XM_005258882.1:c.252dup, XR_935823.2:n.460dup, XR_935823.1:n.1626dup, XM_047438793.1:c.348dup, NP_002241.1:p.Leu117fs, XP_005258940.1:p.Ala55fs, XP_005258939.1:p.Leu85fs, XP_047294749.1:p.Leu117fs

Select item 144137321120.

rs1441373211 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:43774431 (GRCh38)
19:44278583 (GRCh37)
Canonical SPDI:: NC_000019.10:43774430:C:T
Gene:: KCNN4 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000133/5 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000029/4 (GnomAD)
T=0.00067/3 (Estonian)
HGVS:: NC_000019.10:g.43774431C>T, NC_000019.9:g.44278583C>T, NG_052672.1:g.12709G>A, NM_002250.3:c.444G>A, NM_002250.2:c.444G>A, XM_005258883.3:c.259G>A, XM_005258883.2:c.259G>A, XM_005258883.1:c.259G>A, XM_005258882.3:c.348G>A, XM_005258882.2:c.348G>A, XM_005258882.1:c.348G>A, XR_935823.2:n.556G>A, XR_935823.1:n.1722G>A, XM_047438793.1:c.444G>A, XP_005258940.1:p.Gly87Arg

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