SNP Links for Protein (Select 45827708) - SNP

Links from Protein

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Select item 14895656091.

rs1489565609 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:163563548 (GRCh38)
6:163984580 (GRCh37)
Canonical SPDI:: NC_000006.12:163563547:A:C
Gene:: QKI (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.163563548A>C, NC_000006.11:g.163984580A>C, NG_029604.2:g.153906A>C, NM_206855.3:c.763A>C, NM_206855.2:c.763A>C, NM_206854.3:c.763A>C, NM_206854.2:c.763A>C, NM_206853.3:c.763A>C, NM_206853.2:c.763A>C, NM_006775.3:c.763A>C, NM_006775.2:c.763A>C, NM_001301085.2:c.739A>C, NM_001301085.1:c.739A>C, XM_011536260.3:c.619A>C, XM_011536260.2:c.619A>C, XM_011536260.1:c.619A>C, XM_017011504.2:c.739A>C, XM_017011504.1:c.739A>C, XM_047419566.1:c.619A>C, NP_996737.1:p.Ile255Leu, NP_996736.1:p.Ile255Leu, NP_996735.1:p.Ile255Leu, NP_006766.1:p.Ile255Leu, NP_001288014.1:p.Ile247Leu, XP_011534562.1:p.Ile207Leu, XP_016866993.1:p.Ile247Leu, XP_047275522.1:p.Ile207Leu

Select item 14892599952.

rs1489259995 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:163535008 (GRCh38)
6:163956040 (GRCh37)
Canonical SPDI:: NC_000006.12:163535007:T:C
Gene:: QKI (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.163535008T>C, NC_000006.11:g.163956040T>C, NG_029604.2:g.125366T>C, NM_206855.3:c.429T>C, NM_206855.2:c.429T>C, NM_206854.3:c.429T>C, NM_206854.2:c.429T>C, NM_206853.3:c.429T>C, NM_206853.2:c.429T>C, NM_006775.3:c.429T>C, NM_006775.2:c.429T>C, NM_001301085.2:c.429T>C, NM_001301085.1:c.429T>C, XM_017011504.2:c.429T>C, XM_017011504.1:c.429T>C, XM_011536261.2:c.429T>C, XM_011536261.1:c.429T>C

Select item 14875305123.

rs1487530512 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:163563455 (GRCh38)
6:163984487 (GRCh37)
Canonical SPDI:: NC_000006.12:163563454:G:A
Gene:: QKI (Varview)
Functional Consequence:: 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 (GnomAD_exomes)
A=0.000029/4 (GnomAD)
A=0.000038/10 (TOPMED)
HGVS:: NC_000006.12:g.163563455G>A, NC_000006.11:g.163984487G>A, NG_029604.2:g.153813G>A, NM_206855.3:c.670G>A, NM_206855.2:c.670G>A, NM_206854.3:c.670G>A, NM_206854.2:c.670G>A, NM_206853.3:c.670G>A, NM_206853.2:c.670G>A, NM_006775.3:c.670G>A, NM_006775.2:c.670G>A, NM_001301085.2:c.646G>A, NM_001301085.1:c.646G>A, XM_011536260.3:c.526G>A, XM_011536260.2:c.526G>A, XM_011536260.1:c.526G>A, XM_017011504.2:c.646G>A, XM_017011504.1:c.646G>A, XM_047419566.1:c.526G>A, NP_996737.1:p.Ala224Thr, NP_996736.1:p.Ala224Thr, NP_996735.1:p.Ala224Thr, NP_006766.1:p.Ala224Thr, NP_001288014.1:p.Ala216Thr, XP_011534562.1:p.Ala176Thr, XP_016866993.1:p.Ala216Thr, XP_047275522.1:p.Ala176Thr

Select item 14843490124.

rs1484349012 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:163415236 (GRCh38)
6:163836268 (GRCh37)
Canonical SPDI:: NC_000006.12:163415235:C:G
Gene:: QKI (Varview), CAHM (Varview), LOC124901234 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.163415236C>G, NC_000006.11:g.163836268C>G, NG_029604.2:g.5594C>G, NM_206855.3:c.43C>G, NM_206855.2:c.43C>G, NM_206854.3:c.43C>G, NM_206854.2:c.43C>G, NM_206853.3:c.43C>G, NM_206853.2:c.43C>G, NM_006775.3:c.43C>G, NM_006775.2:c.43C>G, NM_001301085.2:c.43C>G, NM_001301085.1:c.43C>G, XM_011536260.3:c.43C>G, XM_011536260.2:c.43C>G, XM_011536260.1:c.43C>G, XM_017011504.2:c.43C>G, XM_017011504.1:c.43C>G, XM_011536261.2:c.43C>G, XM_011536261.1:c.43C>G, XM_047419566.1:c.43C>G, NP_996737.1:p.Pro15Ala, NP_996736.1:p.Pro15Ala, NP_996735.1:p.Pro15Ala, NP_006766.1:p.Pro15Ala, NP_001288014.1:p.Pro15Ala, XP_011534562.1:p.Pro15Ala, XP_016866993.1:p.Pro15Ala, XP_011534563.1:p.Pro15Ala, XP_047275522.1:p.Pro15Ala

Select item 14816207885.

rs1481620788 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:163563433 (GRCh38)
6:163984465 (GRCh37)
Canonical SPDI:: NC_000006.12:163563432:T:C
Gene:: QKI (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.163563433T>C, NC_000006.11:g.163984465T>C, NG_029604.2:g.153791T>C, NM_206855.3:c.648T>C, NM_206855.2:c.648T>C, NM_206854.3:c.648T>C, NM_206854.2:c.648T>C, NM_206853.3:c.648T>C, NM_206853.2:c.648T>C, NM_006775.3:c.648T>C, NM_006775.2:c.648T>C, XM_011536260.3:c.504T>C, XM_011536260.2:c.504T>C, XM_011536260.1:c.504T>C, XM_047419566.1:c.504T>C

Select item 14774040716.

rs1477404071 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:163535075 (GRCh38)
6:163956107 (GRCh37)
Canonical SPDI:: NC_000006.12:163535074:A:G
Gene:: QKI (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000021/3 (GnomAD)
G=0.000028/7 (GnomAD_exomes)
HGVS:: NC_000006.12:g.163535075A>G, NC_000006.11:g.163956107A>G, NG_029604.2:g.125433A>G, NM_206855.3:c.496A>G, NM_206855.2:c.496A>G, NM_206854.3:c.496A>G, NM_206854.2:c.496A>G, NM_206853.3:c.496A>G, NM_206853.2:c.496A>G, NM_006775.3:c.496A>G, NM_006775.2:c.496A>G, NM_001301085.2:c.496A>G, NM_001301085.1:c.496A>G, XM_017011504.2:c.496A>G, XM_017011504.1:c.496A>G, XM_011536261.2:c.496A>G, XM_011536261.1:c.496A>G, NP_996737.1:p.Ile166Val, NP_996736.1:p.Ile166Val, NP_996735.1:p.Ile166Val, NP_006766.1:p.Ile166Val, NP_001288014.1:p.Ile166Val, XP_016866993.1:p.Ile166Val, XP_011534563.1:p.Ile166Val

Select item 14763799047.

rs1476379904 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:163535003 (GRCh38)
6:163956035 (GRCh37)
Canonical SPDI:: NC_000006.12:163535002:C:T
Gene:: QKI (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00009/1 (ALFA)
HGVS:: NC_000006.12:g.163535003C>T, NC_000006.11:g.163956035C>T, NG_029604.2:g.125361C>T, NM_206855.3:c.424C>T, NM_206855.2:c.424C>T, NM_206854.3:c.424C>T, NM_206854.2:c.424C>T, NM_206853.3:c.424C>T, NM_206853.2:c.424C>T, NM_006775.3:c.424C>T, NM_006775.2:c.424C>T, NM_001301085.2:c.424C>T, NM_001301085.1:c.424C>T, XM_017011504.2:c.424C>T, XM_017011504.1:c.424C>T, XM_011536261.2:c.424C>T, XM_011536261.1:c.424C>T, NP_996737.1:p.Pro142Ser, NP_996736.1:p.Pro142Ser, NP_996735.1:p.Pro142Ser, NP_006766.1:p.Pro142Ser, NP_001288014.1:p.Pro142Ser, XP_016866993.1:p.Pro142Ser, XP_011534563.1:p.Pro142Ser

Select item 14746931778.

rs1474693177 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:163415316 (GRCh38)
6:163836348 (GRCh37)
Canonical SPDI:: NC_000006.12:163415315:C:G,NC_000006.12:163415315:C:T
Gene:: QKI (Varview), CAHM (Varview), LOC124901234 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,500B_downstream_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000022/3 (GnomAD)
HGVS:: NC_000006.12:g.163415316C>G, NC_000006.12:g.163415316C>T, NC_000006.11:g.163836348C>G, NC_000006.11:g.163836348C>T, NG_029604.2:g.5674C>G, NG_029604.2:g.5674C>T, NM_206855.3:c.123C>G, NM_206855.3:c.123C>T, NM_206855.2:c.123C>G, NM_206855.2:c.123C>T, NM_206854.3:c.123C>G, NM_206854.3:c.123C>T, NM_206854.2:c.123C>G, NM_206854.2:c.123C>T, NM_206853.3:c.123C>G, NM_206853.3:c.123C>T, NM_206853.2:c.123C>G, NM_206853.2:c.123C>T, NM_006775.3:c.123C>G, NM_006775.3:c.123C>T, NM_006775.2:c.123C>G, NM_006775.2:c.123C>T, NM_001301085.2:c.123C>G, NM_001301085.2:c.123C>T, NM_001301085.1:c.123C>G, NM_001301085.1:c.123C>T, XM_011536260.3:c.123C>G, XM_011536260.3:c.123C>T, XM_011536260.2:c.123C>G, XM_011536260.2:c.123C>T, XM_011536260.1:c.123C>G, XM_011536260.1:c.123C>T, XM_017011504.2:c.123C>G, XM_017011504.2:c.123C>T, XM_017011504.1:c.123C>G, XM_017011504.1:c.123C>T, XM_011536261.2:c.123C>G, XM_011536261.2:c.123C>T, XM_011536261.1:c.123C>G, XM_011536261.1:c.123C>T, XM_047419566.1:c.123C>G, XM_047419566.1:c.123C>T

Select item 14688771279.

rs1468877127 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:163415200 (GRCh38)
6:163836232 (GRCh37)
Canonical SPDI:: NC_000006.12:163415199:G:A
Gene:: QKI (Varview), CAHM (Varview), LOC124901234 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.163415200G>A, NC_000006.11:g.163836232G>A, NG_029604.2:g.5558G>A, NM_206855.3:c.7G>A, NM_206855.2:c.7G>A, NM_206854.3:c.7G>A, NM_206854.2:c.7G>A, NM_206853.3:c.7G>A, NM_206853.2:c.7G>A, NM_006775.3:c.7G>A, NM_006775.2:c.7G>A, NM_001301085.2:c.7G>A, NM_001301085.1:c.7G>A, XM_011536260.3:c.7G>A, XM_011536260.2:c.7G>A, XM_011536260.1:c.7G>A, XM_017011504.2:c.7G>A, XM_017011504.1:c.7G>A, XM_011536261.2:c.7G>A, XM_011536261.1:c.7G>A, XM_047419566.1:c.7G>A, NP_996737.1:p.Gly3Arg, NP_996736.1:p.Gly3Arg, NP_996735.1:p.Gly3Arg, NP_006766.1:p.Gly3Arg, NP_001288014.1:p.Gly3Arg, XP_011534562.1:p.Gly3Arg, XP_016866993.1:p.Gly3Arg, XP_011534563.1:p.Gly3Arg, XP_047275522.1:p.Gly3Arg

Select item 146871118710.

rs1468711187 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:163455331 (GRCh38)
6:163876363 (GRCh37)
Canonical SPDI:: NC_000006.12:163455330:A:G
Gene:: QKI (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.163455331A>G, NC_000006.11:g.163876363A>G, NG_029604.2:g.45689A>G, NM_206855.3:c.195A>G, NM_206855.2:c.195A>G, NM_206854.3:c.195A>G, NM_206854.2:c.195A>G, NM_206853.3:c.195A>G, NM_206853.2:c.195A>G, NM_006775.3:c.195A>G, NM_006775.2:c.195A>G, NM_001301085.2:c.195A>G, NM_001301085.1:c.195A>G, XM_011536260.3:c.195A>G, XM_011536260.2:c.195A>G, XM_011536260.1:c.195A>G, XM_017011504.2:c.195A>G, XM_017011504.1:c.195A>G, XM_011536261.2:c.195A>G, XM_011536261.1:c.195A>G, XM_047419566.1:c.195A>G

Select item 146282605111.

rs1462826051 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:163535060 (GRCh38)
6:163956092 (GRCh37)
Canonical SPDI:: NC_000006.12:163535059:C:G
Gene:: QKI (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.163535060C>G, NC_000006.11:g.163956092C>G, NG_029604.2:g.125418C>G, NM_206855.3:c.481C>G, NM_206855.2:c.481C>G, NM_206854.3:c.481C>G, NM_206854.2:c.481C>G, NM_206853.3:c.481C>G, NM_206853.2:c.481C>G, NM_006775.3:c.481C>G, NM_006775.2:c.481C>G, NM_001301085.2:c.481C>G, NM_001301085.1:c.481C>G, XM_017011504.2:c.481C>G, XM_017011504.1:c.481C>G, XM_011536261.2:c.481C>G, XM_011536261.1:c.481C>G, NP_996737.1:p.Gln161Glu, NP_996736.1:p.Gln161Glu, NP_996735.1:p.Gln161Glu, NP_006766.1:p.Gln161Glu, NP_001288014.1:p.Gln161Glu, XP_016866993.1:p.Gln161Glu, XP_011534563.1:p.Gln161Glu

Select item 146200935812.

rs1462009358 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:163415279 (GRCh38)
6:163836311 (GRCh37)
Canonical SPDI:: NC_000006.12:163415278:G:A
Gene:: QKI (Varview), CAHM (Varview), LOC124901234 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.163415279G>A, NC_000006.11:g.163836311G>A, NG_029604.2:g.5637G>A, NM_206855.3:c.86G>A, NM_206855.2:c.86G>A, NM_206854.3:c.86G>A, NM_206854.2:c.86G>A, NM_206853.3:c.86G>A, NM_206853.2:c.86G>A, NM_006775.3:c.86G>A, NM_006775.2:c.86G>A, NM_001301085.2:c.86G>A, NM_001301085.1:c.86G>A, XM_011536260.3:c.86G>A, XM_011536260.2:c.86G>A, XM_011536260.1:c.86G>A, XM_017011504.2:c.86G>A, XM_017011504.1:c.86G>A, XM_011536261.2:c.86G>A, XM_011536261.1:c.86G>A, XM_047419566.1:c.86G>A, NP_996737.1:p.Ser29Asn, NP_996736.1:p.Ser29Asn, NP_996735.1:p.Ser29Asn, NP_006766.1:p.Ser29Asn, NP_001288014.1:p.Ser29Asn, XP_011534562.1:p.Ser29Asn, XP_016866993.1:p.Ser29Asn, XP_011534563.1:p.Ser29Asn, XP_047275522.1:p.Ser29Asn

Select item 145872699513.

rs1458726995 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:163563703 (GRCh38)
6:163984735 (GRCh37)
Canonical SPDI:: NC_000006.12:163563702:A:G
Gene:: QKI (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.163563703A>G, NC_000006.11:g.163984735A>G, NG_029604.2:g.154061A>G, NM_206855.3:c.918A>G, NM_206855.2:c.918A>G, NM_206854.3:c.918A>G, NM_206854.2:c.918A>G, NM_206853.3:c.918A>G, NM_206853.2:c.918A>G, NM_006775.3:c.918A>G, NM_006775.2:c.918A>G, NM_001301085.2:c.894A>G, NM_001301085.1:c.894A>G, XM_011536260.3:c.774A>G, XM_011536260.2:c.774A>G, XM_011536260.1:c.774A>G, XM_017011504.2:c.894A>G, XM_017011504.1:c.894A>G, XM_047419566.1:c.774A>G

Select item 145840848014.

rs1458408480 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:163563524 (GRCh38)
6:163984556 (GRCh37)
Canonical SPDI:: NC_000006.12:163563523:G:C
Gene:: QKI (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.163563524G>C, NC_000006.11:g.163984556G>C, NG_029604.2:g.153882G>C, NM_206855.3:c.739G>C, NM_206855.2:c.739G>C, NM_206854.3:c.739G>C, NM_206854.2:c.739G>C, NM_206853.3:c.739G>C, NM_206853.2:c.739G>C, NM_006775.3:c.739G>C, NM_006775.2:c.739G>C, NM_001301085.2:c.715G>C, NM_001301085.1:c.715G>C, XM_011536260.3:c.595G>C, XM_011536260.2:c.595G>C, XM_011536260.1:c.595G>C, XM_017011504.2:c.715G>C, XM_017011504.1:c.715G>C, XM_047419566.1:c.595G>C, NP_996737.1:p.Ala247Pro, NP_996736.1:p.Ala247Pro, NP_996735.1:p.Ala247Pro, NP_006766.1:p.Ala247Pro, NP_001288014.1:p.Ala239Pro, XP_011534562.1:p.Ala199Pro, XP_016866993.1:p.Ala239Pro, XP_047275522.1:p.Ala199Pro

Select item 145531634615.

rs1455316346 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:163415269 (GRCh38)
6:163836301 (GRCh37)
Canonical SPDI:: NC_000006.12:163415268:A:C
Gene:: QKI (Varview), CAHM (Varview), LOC124901234 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.163415269A>C, NC_000006.11:g.163836301A>C, NG_029604.2:g.5627A>C, NM_206855.3:c.76A>C, NM_206855.2:c.76A>C, NM_206854.3:c.76A>C, NM_206854.2:c.76A>C, NM_206853.3:c.76A>C, NM_206853.2:c.76A>C, NM_006775.3:c.76A>C, NM_006775.2:c.76A>C, NM_001301085.2:c.76A>C, NM_001301085.1:c.76A>C, XM_011536260.3:c.76A>C, XM_011536260.2:c.76A>C, XM_011536260.1:c.76A>C, XM_017011504.2:c.76A>C, XM_017011504.1:c.76A>C, XM_011536261.2:c.76A>C, XM_011536261.1:c.76A>C, XM_047419566.1:c.76A>C, NP_996737.1:p.Lys26Gln, NP_996736.1:p.Lys26Gln, NP_996735.1:p.Lys26Gln, NP_006766.1:p.Lys26Gln, NP_001288014.1:p.Lys26Gln, XP_011534562.1:p.Lys26Gln, XP_016866993.1:p.Lys26Gln, XP_011534563.1:p.Lys26Gln, XP_047275522.1:p.Lys26Gln

Select item 145464527516.

rs1454645275 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:163455340 (GRCh38)
6:163876372 (GRCh37)
Canonical SPDI:: NC_000006.12:163455339:G:A
Gene:: QKI (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.163455340G>A, NC_000006.11:g.163876372G>A, NG_029604.2:g.45698G>A, NM_206855.3:c.204G>A, NM_206855.2:c.204G>A, NM_206854.3:c.204G>A, NM_206854.2:c.204G>A, NM_206853.3:c.204G>A, NM_206853.2:c.204G>A, NM_006775.3:c.204G>A, NM_006775.2:c.204G>A, NM_001301085.2:c.204G>A, NM_001301085.1:c.204G>A, XM_011536260.3:c.204G>A, XM_011536260.2:c.204G>A, XM_011536260.1:c.204G>A, XM_017011504.2:c.204G>A, XM_017011504.1:c.204G>A, XM_011536261.2:c.204G>A, XM_011536261.1:c.204G>A, XM_047419566.1:c.204G>A

Select item 144263518117.

rs1442635181 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:163478800 (GRCh38)
6:163899832 (GRCh37)
Canonical SPDI:: NC_000006.12:163478799:C:T
Gene:: QKI (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.163478800C>T, NC_000006.11:g.163899832C>T, NG_029604.2:g.69158C>T, NM_206855.3:c.306C>T, NM_206855.2:c.306C>T, NM_206854.3:c.306C>T, NM_206854.2:c.306C>T, NM_206853.3:c.306C>T, NM_206853.2:c.306C>T, NM_006775.3:c.306C>T, NM_006775.2:c.306C>T, NM_001301085.2:c.306C>T, NM_001301085.1:c.306C>T, XM_011536260.3:c.306C>T, XM_011536260.2:c.306C>T, XM_011536260.1:c.306C>T, XM_017011504.2:c.306C>T, XM_017011504.1:c.306C>T, XM_011536261.2:c.306C>T, XM_011536261.1:c.306C>T, XM_047419566.1:c.306C>T

Select item 143913000218.

rs1439130002 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:163562058 (GRCh38)
6:163983090 (GRCh37)
Canonical SPDI:: NC_000006.12:163562057:A:G
Gene:: QKI (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.163562058A>G, NC_000006.11:g.163983090A>G, NG_029604.2:g.152416A>G, NM_206855.3:c.623A>G, NM_206855.2:c.623A>G, NM_206854.3:c.623A>G, NM_206854.2:c.623A>G, NM_206853.3:c.623A>G, NM_206853.2:c.623A>G, NM_006775.3:c.623A>G, NM_006775.2:c.623A>G, NM_001301085.2:c.623A>G, NM_001301085.1:c.623A>G, XM_011536260.3:c.479A>G, XM_011536260.2:c.479A>G, XM_011536260.1:c.479A>G, XM_017011504.2:c.623A>G, XM_017011504.1:c.623A>G, XM_047419566.1:c.479A>G, NP_996737.1:p.Asn208Ser, NP_996736.1:p.Asn208Ser, NP_996735.1:p.Asn208Ser, NP_006766.1:p.Asn208Ser, NP_001288014.1:p.Asn208Ser, XP_011534562.1:p.Asn160Ser, XP_016866993.1:p.Asn208Ser, XP_047275522.1:p.Asn160Ser

Select item 143745300819.

rs1437453008 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:163478884 (GRCh38)
6:163899916 (GRCh37)
Canonical SPDI:: NC_000006.12:163478883:G:A
Gene:: QKI (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000006.12:g.163478884G>A, NC_000006.11:g.163899916G>A, NG_029604.2:g.69242G>A, NM_206855.3:c.390G>A, NM_206855.2:c.390G>A, NM_206854.3:c.390G>A, NM_206854.2:c.390G>A, NM_206853.3:c.390G>A, NM_206853.2:c.390G>A, NM_006775.3:c.390G>A, NM_006775.2:c.390G>A, NM_001301085.2:c.390G>A, NM_001301085.1:c.390G>A, XM_011536260.3:c.390G>A, XM_011536260.2:c.390G>A, XM_011536260.1:c.390G>A, XM_017011504.2:c.390G>A, XM_017011504.1:c.390G>A, XM_011536261.2:c.390G>A, XM_011536261.1:c.390G>A, XM_047419566.1:c.390G>A

Select item 143653095520.

rs1436530955 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:163478789 (GRCh38)
6:163899821 (GRCh37)
Canonical SPDI:: NC_000006.12:163478788:G:T
Gene:: QKI (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00744/188 (ALFA)
HGVS:: NC_000006.12:g.163478789G>T, NC_000006.11:g.163899821G>T, NG_029604.2:g.69147G>T, NM_206855.3:c.295G>T, NM_206855.2:c.295G>T, NM_206854.3:c.295G>T, NM_206854.2:c.295G>T, NM_206853.3:c.295G>T, NM_206853.2:c.295G>T, NM_006775.3:c.295G>T, NM_006775.2:c.295G>T, NM_001301085.2:c.295G>T, NM_001301085.1:c.295G>T, XM_011536260.3:c.295G>T, XM_011536260.2:c.295G>T, XM_011536260.1:c.295G>T, XM_017011504.2:c.295G>T, XM_017011504.1:c.295G>T, XM_011536261.2:c.295G>T, XM_011536261.1:c.295G>T, XM_047419566.1:c.295G>T, NP_996737.1:p.Val99Phe, NP_996736.1:p.Val99Phe, NP_996735.1:p.Val99Phe, NP_006766.1:p.Val99Phe, NP_001288014.1:p.Val99Phe, XP_011534562.1:p.Val99Phe, XP_016866993.1:p.Val99Phe, XP_011534563.1:p.Val99Phe, XP_047275522.1:p.Val99Phe

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