SNP Links for Protein (Select 289803003) - SNP

Links from Protein

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Select item 14902106821.

rs1490210682 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:117157729 (GRCh38)
8:118169968 (GRCh37)
Canonical SPDI:: NC_000008.11:117157728:G:T
Gene:: SLC30A8 (Varview), LOC105375716 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.117157729G>T, NC_000008.10:g.118169968G>T, NG_016991.1:g.212457G>T, NM_173851.3:c.457G>T, NM_173851.2:c.457G>T, NM_001172815.3:c.310G>T, NM_001172815.2:c.310G>T, NM_001172815.1:c.310G>T, NM_001172813.2:c.310G>T, NM_001172813.1:c.310G>T, NM_001172814.2:c.310G>T, NM_001172814.1:c.310G>T, NM_001172811.2:c.310G>T, NM_001172811.1:c.310G>T, XM_024447083.2:c.310G>T, XM_024447083.1:c.310G>T, NP_776250.2:p.Val153Leu, NP_001166286.1:p.Val104Leu, NP_001166284.1:p.Val104Leu, NP_001166285.1:p.Val104Leu, NP_001166282.1:p.Val104Leu, XP_024302851.1:p.Val104Leu

Select item 14896439762.

rs1489643976 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 8:117161880 (GRCh38)
8:118174119 (GRCh37)
Canonical SPDI:: NC_000008.11:117161879:T:C,NC_000008.11:117161879:T:G
Gene:: SLC30A8 (Varview), LOC105375716 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000051/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.117161880T>C, NC_000008.11:g.117161880T>G, NC_000008.10:g.118174119T>C, NC_000008.10:g.118174119T>G, NG_016991.1:g.216608T>C, NG_016991.1:g.216608T>G, NM_173851.3:c.715T>C, NM_173851.3:c.715T>G, NM_173851.2:c.715T>C, NM_173851.2:c.715T>G, NM_001172815.3:c.568T>C, NM_001172815.3:c.568T>G, NM_001172815.2:c.568T>C, NM_001172815.2:c.568T>G, NM_001172815.1:c.568T>C, NM_001172815.1:c.568T>G, NM_001172813.2:c.568T>C, NM_001172813.2:c.568T>G, NM_001172813.1:c.568T>C, NM_001172813.1:c.568T>G, NM_001172814.2:c.568T>C, NM_001172814.2:c.568T>G, NM_001172814.1:c.568T>C, NM_001172814.1:c.568T>G, NM_001172811.2:c.568T>C, NM_001172811.2:c.568T>G, NM_001172811.1:c.568T>C, NM_001172811.1:c.568T>G, XM_024447083.2:c.568T>C, XM_024447083.2:c.568T>G, XM_024447083.1:c.568T>C, XM_024447083.1:c.568T>G, NP_776250.2:p.Tyr239His, NP_776250.2:p.Tyr239Asp, NP_001166286.1:p.Tyr190His, NP_001166286.1:p.Tyr190Asp, NP_001166284.1:p.Tyr190His, NP_001166284.1:p.Tyr190Asp, NP_001166285.1:p.Tyr190His, NP_001166285.1:p.Tyr190Asp, NP_001166282.1:p.Tyr190His, NP_001166282.1:p.Tyr190Asp, XP_024302851.1:p.Tyr190His, XP_024302851.1:p.Tyr190Asp

Select item 14853621923.

rs1485362192 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:117161788 (GRCh38)
8:118174027 (GRCh37)
Canonical SPDI:: NC_000008.11:117161787:T:A
Gene:: SLC30A8 (Varview), LOC105375716 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000008.11:g.117161788T>A, NC_000008.10:g.118174027T>A, NG_016991.1:g.216516T>A, NM_173851.3:c.623T>A, NM_173851.2:c.623T>A, NM_001172815.3:c.476T>A, NM_001172815.2:c.476T>A, NM_001172815.1:c.476T>A, NM_001172813.2:c.476T>A, NM_001172813.1:c.476T>A, NM_001172814.2:c.476T>A, NM_001172814.1:c.476T>A, NM_001172811.2:c.476T>A, NM_001172811.1:c.476T>A, XM_024447083.2:c.476T>A, XM_024447083.1:c.476T>A, NP_776250.2:p.Val208Glu, NP_001166286.1:p.Val159Glu, NP_001166284.1:p.Val159Glu, NP_001166285.1:p.Val159Glu, NP_001166282.1:p.Val159Glu, XP_024302851.1:p.Val159Glu

Select item 14822422494.

rs1482242249 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:117157762 (GRCh38)
8:118170001 (GRCh37)
Canonical SPDI:: NC_000008.11:117157761:G:A
Gene:: SLC30A8 (Varview), LOC105375716 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.117157762G>A, NC_000008.10:g.118170001G>A, NG_016991.1:g.212490G>A, NM_173851.3:c.490G>A, NM_173851.2:c.490G>A, NM_001172815.3:c.343G>A, NM_001172815.2:c.343G>A, NM_001172815.1:c.343G>A, NM_001172813.2:c.343G>A, NM_001172813.1:c.343G>A, NM_001172814.2:c.343G>A, NM_001172814.1:c.343G>A, NM_001172811.2:c.343G>A, NM_001172811.1:c.343G>A, XM_024447083.2:c.343G>A, XM_024447083.1:c.343G>A, NP_776250.2:p.Glu164Lys, NP_001166286.1:p.Glu115Lys, NP_001166284.1:p.Glu115Lys, NP_001166285.1:p.Glu115Lys, NP_001166282.1:p.Glu115Lys, XP_024302851.1:p.Glu115Lys

Select item 14812969115.

rs1481296911 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 8:117161744 (GRCh38)
8:118173983 (GRCh37)
Canonical SPDI:: NC_000008.11:117161743:T:
Gene:: SLC30A8 (Varview), LOC105375716 (Varview)
Functional Consequence:: frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.117161744del, NC_000008.10:g.118173983del, NG_016991.1:g.216472del, NM_173851.3:c.579del, NM_173851.2:c.579del, NM_001172815.3:c.432del, NM_001172815.2:c.432del, NM_001172815.1:c.432del, NM_001172813.2:c.432del, NM_001172813.1:c.432del, NM_001172814.2:c.432del, NM_001172814.1:c.432del, NM_001172811.2:c.432del, NM_001172811.1:c.432del, XM_024447083.2:c.432del, XM_024447083.1:c.432del, NP_776250.2:p.Val194fs, NP_001166286.1:p.Val145fs, NP_001166284.1:p.Val145fs, NP_001166285.1:p.Val145fs, NP_001166282.1:p.Val145fs, XP_024302851.1:p.Val145fs

Select item 14811117456.

rs1481111745 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:117163462 (GRCh38)
8:118175701 (GRCh37)
Canonical SPDI:: NC_000008.11:117163461:T:C
Gene:: SLC30A8 (Varview), LOC105375716 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.117163462T>C, NC_000008.10:g.118175701T>C, NG_016991.1:g.218190T>C, NM_173851.3:c.761T>C, NM_173851.2:c.761T>C, NM_001172815.3:c.614T>C, NM_001172815.2:c.614T>C, NM_001172815.1:c.614T>C, NM_001172813.2:c.614T>C, NM_001172813.1:c.614T>C, NM_001172814.2:c.614T>C, NM_001172814.1:c.614T>C, NM_001172811.2:c.614T>C, NM_001172811.1:c.614T>C, XM_024447083.2:c.614T>C, XM_024447083.1:c.614T>C, NP_776250.2:p.Ile254Thr, NP_001166286.1:p.Ile205Thr, NP_001166284.1:p.Ile205Thr, NP_001166285.1:p.Ile205Thr, NP_001166282.1:p.Ile205Thr, XP_024302851.1:p.Ile205Thr

Select item 14762009107.

rs1476200910 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:117163454 (GRCh38)
8:118175693 (GRCh37)
Canonical SPDI:: NC_000008.11:117163453:C:T
Gene:: SLC30A8 (Varview), LOC105375716 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.117163454C>T, NC_000008.10:g.118175693C>T, NG_016991.1:g.218182C>T, NM_173851.3:c.753C>T, NM_173851.2:c.753C>T, NM_001172815.3:c.606C>T, NM_001172815.2:c.606C>T, NM_001172815.1:c.606C>T, NM_001172813.2:c.606C>T, NM_001172813.1:c.606C>T, NM_001172814.2:c.606C>T, NM_001172814.1:c.606C>T, NM_001172811.2:c.606C>T, NM_001172811.1:c.606C>T, XM_024447083.2:c.606C>T, XM_024447083.1:c.606C>T

Select item 14738280638.

rs1473828063 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:117163512 (GRCh38)
8:118175751 (GRCh37)
Canonical SPDI:: NC_000008.11:117163511:T:A
Gene:: SLC30A8 (Varview), LOC105375716 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000026/7 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000008.11:g.117163512T>A, NC_000008.10:g.118175751T>A, NG_016991.1:g.218240T>A, NM_173851.3:c.811T>A, NM_173851.2:c.811T>A, NM_001172815.3:c.664T>A, NM_001172815.2:c.664T>A, NM_001172815.1:c.664T>A, NM_001172813.2:c.664T>A, NM_001172813.1:c.664T>A, NM_001172814.2:c.664T>A, NM_001172814.1:c.664T>A, NM_001172811.2:c.664T>A, NM_001172811.1:c.664T>A, XM_024447083.2:c.664T>A, XM_024447083.1:c.664T>A, NP_776250.2:p.Ser271Thr, NP_001166286.1:p.Ser222Thr, NP_001166284.1:p.Ser222Thr, NP_001166285.1:p.Ser222Thr, NP_001166282.1:p.Ser222Thr, XP_024302851.1:p.Ser222Thr

Select item 14677357009.

rs1467735700 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:117172632 (GRCh38)
8:118184871 (GRCh37)
Canonical SPDI:: NC_000008.11:117172631:C:T
Gene:: SLC30A8 (Varview), LOC105375716 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.117172632C>T, NC_000008.10:g.118184871C>T, NG_016991.1:g.227360C>T, NM_173851.3:c.1061C>T, NM_173851.2:c.1061C>T, NM_001172815.3:c.914C>T, NM_001172815.2:c.914C>T, NM_001172815.1:c.914C>T, NM_001172813.2:c.914C>T, NM_001172813.1:c.914C>T, NM_001172814.2:c.914C>T, NM_001172814.1:c.914C>T, NM_001172811.2:c.914C>T, NM_001172811.1:c.914C>T, XR_928568.4:n.957G>A, XR_928569.3:n.1040G>A, XR_928569.2:n.956G>A, XR_928569.1:n.1003G>A, XR_928570.3:n.1040G>A, XR_928570.2:n.956G>A, XR_928570.1:n.1003G>A, XM_024447083.2:c.914C>T, XM_024447083.1:c.914C>T, XR_007061068.1:n.1189G>A, XR_007061067.1:n.802G>A, NP_776250.2:p.Pro354Leu, NP_001166286.1:p.Pro305Leu, NP_001166284.1:p.Pro305Leu, NP_001166285.1:p.Pro305Leu, NP_001166282.1:p.Pro305Leu, XP_024302851.1:p.Pro305Leu

Select item 146679597210.

rs1466795972 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:117172562 (GRCh38)
8:118184801 (GRCh37)
Canonical SPDI:: NC_000008.11:117172561:C:A,NC_000008.11:117172561:C:T
Gene:: SLC30A8 (Varview), LOC105375716 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
A=0.000071/2 (TOMMO)
HGVS:: NC_000008.11:g.117172562C>A, NC_000008.11:g.117172562C>T, NC_000008.10:g.118184801C>A, NC_000008.10:g.118184801C>T, NG_016991.1:g.227290C>A, NG_016991.1:g.227290C>T, NM_173851.3:c.991C>A, NM_173851.3:c.991C>T, NM_173851.2:c.991C>A, NM_173851.2:c.991C>T, NM_001172815.3:c.844C>A, NM_001172815.3:c.844C>T, NM_001172815.2:c.844C>A, NM_001172815.2:c.844C>T, NM_001172815.1:c.844C>A, NM_001172815.1:c.844C>T, NM_001172813.2:c.844C>A, NM_001172813.2:c.844C>T, NM_001172813.1:c.844C>A, NM_001172813.1:c.844C>T, NM_001172814.2:c.844C>A, NM_001172814.2:c.844C>T, NM_001172814.1:c.844C>A, NM_001172814.1:c.844C>T, NM_001172811.2:c.844C>A, NM_001172811.2:c.844C>T, NM_001172811.1:c.844C>A, NM_001172811.1:c.844C>T, XM_024447083.2:c.844C>A, XM_024447083.2:c.844C>T, XM_024447083.1:c.844C>A, XM_024447083.1:c.844C>T, NP_776250.2:p.Arg331Trp, NP_001166286.1:p.Arg282Trp, NP_001166284.1:p.Arg282Trp, NP_001166285.1:p.Arg282Trp, NP_001166282.1:p.Arg282Trp, XP_024302851.1:p.Arg282Trp

Select item 146649582611.

rs1466495826 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTTTT [Show Flanks]
Chromosome:: 8:117163427 (GRCh38)
8:118175667 (GRCh37)
Canonical SPDI:: NC_000008.11:117163427::TTTTT
Gene:: SLC30A8 (Varview), LOC105375716 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000008.11:g.117163427_117163428insTTTTT, NC_000008.10:g.118175666_118175667insTTTTT, NG_016991.1:g.218155_218156insTTTTT, NM_173851.3:c.726_727insTTTTT, NM_173851.2:c.726_727insTTTTT, NM_001172815.3:c.579_580insTTTTT, NM_001172815.2:c.579_580insTTTTT, NM_001172815.1:c.579_580insTTTTT, NM_001172813.2:c.579_580insTTTTT, NM_001172813.1:c.579_580insTTTTT, NM_001172814.2:c.579_580insTTTTT, NM_001172814.1:c.579_580insTTTTT, NM_001172811.2:c.579_580insTTTTT, NM_001172811.1:c.579_580insTTTTT, XM_024447083.2:c.579_580insTTTTT, XM_024447083.1:c.579_580insTTTTT, NP_776250.2:p.Glu243fs, NP_001166286.1:p.Glu194fs, NP_001166284.1:p.Glu194fs, NP_001166285.1:p.Glu194fs, NP_001166282.1:p.Glu194fs, XP_024302851.1:p.Glu194fs

Select item 146104288112.

rs1461042881 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:117157837 (GRCh38)
8:118170076 (GRCh37)
Canonical SPDI:: NC_000008.11:117157836:A:G
Gene:: SLC30A8 (Varview), LOC105375716 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.117157837A>G, NC_000008.10:g.118170076A>G, NG_016991.1:g.212565A>G, NM_173851.3:c.565A>G, NM_173851.2:c.565A>G, NM_001172815.3:c.418A>G, NM_001172815.2:c.418A>G, NM_001172815.1:c.418A>G, NM_001172813.2:c.418A>G, NM_001172813.1:c.418A>G, NM_001172814.2:c.418A>G, NM_001172814.1:c.418A>G, NM_001172811.2:c.418A>G, NM_001172811.1:c.418A>G, XM_024447083.2:c.418A>G, XM_024447083.1:c.418A>G, NP_776250.2:p.Asn189Asp, NP_001166286.1:p.Asn140Asp, NP_001166284.1:p.Asn140Asp, NP_001166285.1:p.Asn140Asp, NP_001166282.1:p.Asn140Asp, XP_024302851.1:p.Asn140Asp

Select item 145942031113.

rs1459420311 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:117172602 (GRCh38)
8:118184841 (GRCh37)
Canonical SPDI:: NC_000008.11:117172601:T:C
Gene:: SLC30A8 (Varview), LOC105375716 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.117172602T>C, NC_000008.10:g.118184841T>C, NG_016991.1:g.227330T>C, NM_173851.3:c.1031T>C, NM_173851.2:c.1031T>C, NM_001172815.3:c.884T>C, NM_001172815.2:c.884T>C, NM_001172815.1:c.884T>C, NM_001172813.2:c.884T>C, NM_001172813.1:c.884T>C, NM_001172814.2:c.884T>C, NM_001172814.1:c.884T>C, NM_001172811.2:c.884T>C, NM_001172811.1:c.884T>C, XM_024447083.2:c.884T>C, XM_024447083.1:c.884T>C, NP_776250.2:p.Met344Thr, NP_001166286.1:p.Met295Thr, NP_001166284.1:p.Met295Thr, NP_001166285.1:p.Met295Thr, NP_001166282.1:p.Met295Thr, XP_024302851.1:p.Met295Thr

Select item 145338401514.

rs1453384015 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:117161838 (GRCh38)
8:118174077 (GRCh37)
Canonical SPDI:: NC_000008.11:117161837:C:A
Gene:: SLC30A8 (Varview), LOC105375716 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.117161838C>A, NC_000008.10:g.118174077C>A, NG_016991.1:g.216566C>A, NM_173851.3:c.673C>A, NM_173851.2:c.673C>A, NM_001172815.3:c.526C>A, NM_001172815.2:c.526C>A, NM_001172815.1:c.526C>A, NM_001172813.2:c.526C>A, NM_001172813.1:c.526C>A, NM_001172814.2:c.526C>A, NM_001172814.1:c.526C>A, NM_001172811.2:c.526C>A, NM_001172811.1:c.526C>A, XM_024447083.2:c.526C>A, XM_024447083.1:c.526C>A, NP_776250.2:p.Leu225Ile, NP_001166286.1:p.Leu176Ile, NP_001166284.1:p.Leu176Ile, NP_001166285.1:p.Leu176Ile, NP_001166282.1:p.Leu176Ile, XP_024302851.1:p.Leu176Ile

Select item 144113851115.

rs1441138511 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 8:117171133 (GRCh38)
8:118183372 (GRCh37)
Canonical SPDI:: NC_000008.11:117171132:T:C,NC_000008.11:117171132:T:G
Gene:: SLC30A8 (Varview), LOC105375716 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.117171133T>C, NC_000008.11:g.117171133T>G, NC_000008.10:g.118183372T>C, NC_000008.10:g.118183372T>G, NG_016991.1:g.225861T>C, NG_016991.1:g.225861T>G, NM_173851.3:c.929T>C, NM_173851.3:c.929T>G, NM_173851.2:c.929T>C, NM_173851.2:c.929T>G, NM_001172815.3:c.782T>C, NM_001172815.3:c.782T>G, NM_001172815.2:c.782T>C, NM_001172815.2:c.782T>G, NM_001172815.1:c.782T>C, NM_001172815.1:c.782T>G, NM_001172813.2:c.782T>C, NM_001172813.2:c.782T>G, NM_001172813.1:c.782T>C, NM_001172813.1:c.782T>G, NM_001172814.2:c.782T>C, NM_001172814.2:c.782T>G, NM_001172814.1:c.782T>C, NM_001172814.1:c.782T>G, NM_001172811.2:c.782T>C, NM_001172811.2:c.782T>G, NM_001172811.1:c.782T>C, NM_001172811.1:c.782T>G, XM_024447083.2:c.782T>C, XM_024447083.2:c.782T>G, XM_024447083.1:c.782T>C, XM_024447083.1:c.782T>G, NP_776250.2:p.Met310Thr, NP_776250.2:p.Met310Arg, NP_001166286.1:p.Met261Thr, NP_001166286.1:p.Met261Arg, NP_001166284.1:p.Met261Thr, NP_001166284.1:p.Met261Arg, NP_001166285.1:p.Met261Thr, NP_001166285.1:p.Met261Arg, NP_001166282.1:p.Met261Thr, NP_001166282.1:p.Met261Arg, XP_024302851.1:p.Met261Thr, XP_024302851.1:p.Met261Arg

Select item 143742468716.

rs1437424687 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:117161812 (GRCh38)
8:118174051 (GRCh37)
Canonical SPDI:: NC_000008.11:117161811:C:T
Gene:: SLC30A8 (Varview), LOC105375716 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.117161812C>T, NC_000008.10:g.118174051C>T, NG_016991.1:g.216540C>T, NM_173851.3:c.647C>T, NM_173851.2:c.647C>T, NM_001172815.3:c.500C>T, NM_001172815.2:c.500C>T, NM_001172815.1:c.500C>T, NM_001172813.2:c.500C>T, NM_001172813.1:c.500C>T, NM_001172814.2:c.500C>T, NM_001172814.1:c.500C>T, NM_001172811.2:c.500C>T, NM_001172811.1:c.500C>T, XM_024447083.2:c.500C>T, XM_024447083.1:c.500C>T, NP_776250.2:p.Ala216Val, NP_001166286.1:p.Ala167Val, NP_001166284.1:p.Ala167Val, NP_001166285.1:p.Ala167Val, NP_001166282.1:p.Ala167Val, XP_024302851.1:p.Ala167Val

Select item 143711506017.

rs1437115060 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:117171153 (GRCh38)
8:118183392 (GRCh37)
Canonical SPDI:: NC_000008.11:117171152:G:A
Gene:: SLC30A8 (Varview), LOC105375716 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.117171153G>A, NC_000008.10:g.118183392G>A, NG_016991.1:g.225881G>A, NM_173851.3:c.949G>A, NM_173851.2:c.949G>A, NM_001172815.3:c.802G>A, NM_001172815.2:c.802G>A, NM_001172815.1:c.802G>A, NM_001172813.2:c.802G>A, NM_001172813.1:c.802G>A, NM_001172814.2:c.802G>A, NM_001172814.1:c.802G>A, NM_001172811.2:c.802G>A, NM_001172811.1:c.802G>A, XM_024447083.2:c.802G>A, XM_024447083.1:c.802G>A, NP_776250.2:p.Ala317Thr, NP_001166286.1:p.Ala268Thr, NP_001166284.1:p.Ala268Thr, NP_001166285.1:p.Ala268Thr, NP_001166282.1:p.Ala268Thr, XP_024302851.1:p.Ala268Thr

Select item 143470631718.

rs1434706317 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 8:117161815 (GRCh38)
8:118174054 (GRCh37)
Canonical SPDI:: NC_000008.11:117161814:C:
Gene:: SLC30A8 (Varview), LOC105375716 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.117161815del, NC_000008.10:g.118174054del, NG_016991.1:g.216543del, NM_173851.3:c.650del, NM_173851.2:c.650del, NM_001172815.3:c.503del, NM_001172815.2:c.503del, NM_001172815.1:c.503del, NM_001172813.2:c.503del, NM_001172813.1:c.503del, NM_001172814.2:c.503del, NM_001172814.1:c.503del, NM_001172811.2:c.503del, NM_001172811.1:c.503del, XM_024447083.2:c.503del, XM_024447083.1:c.503del, NP_776250.2:p.Ala217fs, NP_001166286.1:p.Ala168fs, NP_001166284.1:p.Ala168fs, NP_001166285.1:p.Ala168fs, NP_001166282.1:p.Ala168fs, XP_024302851.1:p.Ala168fs

Select item 143096188519.

rs1430961885 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:117147064 (GRCh38)
8:118159303 (GRCh37)
Canonical SPDI:: NC_000008.11:117147063:A:G
Gene:: SLC30A8 (Varview), LOC105375716 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.117147064A>G, NC_000008.10:g.118159303A>G, NG_016991.1:g.201792A>G, NM_173851.3:c.182A>G, NM_173851.2:c.182A>G, NM_001172815.3:c.35A>G, NM_001172815.2:c.35A>G, NM_001172815.1:c.35A>G, NM_001172813.2:c.35A>G, NM_001172813.1:c.35A>G, NM_001172814.2:c.35A>G, NM_001172814.1:c.35A>G, NM_001172811.2:c.35A>G, NM_001172811.1:c.35A>G, XM_024447083.2:c.35A>G, XM_024447083.1:c.35A>G, NP_776250.2:p.Glu61Gly, NP_001166286.1:p.Glu12Gly, NP_001166284.1:p.Glu12Gly, NP_001166285.1:p.Glu12Gly, NP_001166282.1:p.Glu12Gly, XP_024302851.1:p.Glu12Gly

Select item 142241396920.

rs1422413969 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:117161879 (GRCh38)
8:118174118 (GRCh37)
Canonical SPDI:: NC_000008.11:117161878:C:G,NC_000008.11:117161878:C:T
Gene:: SLC30A8 (Varview), LOC105375716 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.117161879C>G, NC_000008.11:g.117161879C>T, NC_000008.10:g.118174118C>G, NC_000008.10:g.118174118C>T, NG_016991.1:g.216607C>G, NG_016991.1:g.216607C>T, NM_173851.3:c.714C>G, NM_173851.3:c.714C>T, NM_173851.2:c.714C>G, NM_173851.2:c.714C>T, NM_001172815.3:c.567C>G, NM_001172815.3:c.567C>T, NM_001172815.2:c.567C>G, NM_001172815.2:c.567C>T, NM_001172815.1:c.567C>G, NM_001172815.1:c.567C>T, NM_001172813.2:c.567C>G, NM_001172813.2:c.567C>T, NM_001172813.1:c.567C>G, NM_001172813.1:c.567C>T, NM_001172814.2:c.567C>G, NM_001172814.2:c.567C>T, NM_001172814.1:c.567C>G, NM_001172814.1:c.567C>T, NM_001172811.2:c.567C>G, NM_001172811.2:c.567C>T, NM_001172811.1:c.567C>G, NM_001172811.1:c.567C>T, XM_024447083.2:c.567C>G, XM_024447083.2:c.567C>T, XM_024447083.1:c.567C>G, XM_024447083.1:c.567C>T, NP_776250.2:p.Ile238Met, NP_001166286.1:p.Ile189Met, NP_001166284.1:p.Ile189Met, NP_001166285.1:p.Ile189Met, NP_001166282.1:p.Ile189Met, XP_024302851.1:p.Ile189Met

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