SNP Links for Protein (Select 1034593637) - SNP

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Links from Protein

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Select item 14894904351.

rs1489490435 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 16:75451733 (GRCh38)
16:75485631 (GRCh37)
Canonical SPDI:: NC_000016.10:75451732:C:A,NC_000016.10:75451732:C:G,NC_000016.10:75451732:C:T
Gene:: TMEM170A (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.75451733C>A, NC_000016.10:g.75451733C>G, NC_000016.10:g.75451733C>T, NC_000016.9:g.75485631C>A, NC_000016.9:g.75485631C>G, NC_000016.9:g.75485631C>T, XM_011522869.3:c.213G>T, XM_011522869.3:c.213G>C, XM_011522869.3:c.213G>A, XM_011522869.2:c.213G>T, XM_011522869.2:c.213G>C, XM_011522869.2:c.213G>A, XM_011522869.1:c.213G>T, XM_011522869.1:c.213G>C, XM_011522869.1:c.213G>A, NM_145254.3:c.240G>T, NM_145254.3:c.240G>C, NM_145254.3:c.240G>A, NM_145254.2:c.240G>T, NM_145254.2:c.240G>C, NM_145254.2:c.240G>A, NM_145254.1:c.240G>T, NM_145254.1:c.240G>C, NM_145254.1:c.240G>A, XM_017022939.2:c.156G>T, XM_017022939.2:c.156G>C, XM_017022939.2:c.156G>A, XM_017022939.1:c.156G>T, XM_017022939.1:c.156G>C, XM_017022939.1:c.156G>A, NM_001304997.2:c.126G>T, NM_001304997.2:c.126G>C, NM_001304997.2:c.126G>A, NM_001304997.1:c.126G>T, NM_001304997.1:c.126G>C, NM_001304997.1:c.126G>A, XM_017022941.2:c.105G>T, XM_017022941.2:c.105G>C, XM_017022941.2:c.105G>A, XM_017022941.1:c.105G>T, XM_017022941.1:c.105G>C, XM_017022941.1:c.105G>A, XP_011521171.1:p.Arg71Ser, XP_011521171.1:p.Arg71Ser, NP_660297.1:p.Arg80Ser, NP_660297.1:p.Arg80Ser, XP_016878428.1:p.Arg52Ser, XP_016878428.1:p.Arg52Ser, NP_001291926.1:p.Arg42Ser, NP_001291926.1:p.Arg42Ser, XP_016878430.1:p.Arg35Ser, XP_016878430.1:p.Arg35Ser

Select item 14621255352.

rs1462125535 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:75451686 (GRCh38)
16:75485584 (GRCh37)
Canonical SPDI:: NC_000016.10:75451685:G:C
Gene:: TMEM170A (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_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_000016.10:g.75451686G>C, NC_000016.9:g.75485584G>C, XM_011522869.3:c.260C>G, XM_011522869.2:c.260C>G, XM_011522869.1:c.260C>G, NM_145254.3:c.287C>G, NM_145254.2:c.287C>G, NM_145254.1:c.287C>G, XM_017022939.2:c.203C>G, XM_017022939.1:c.203C>G, NM_001304997.2:c.173C>G, NM_001304997.1:c.173C>G, XM_017022941.2:c.152C>G, XM_017022941.1:c.152C>G, XP_011521171.1:p.Thr87Ser, NP_660297.1:p.Thr96Ser, XP_016878428.1:p.Thr68Ser, NP_001291926.1:p.Thr58Ser, XP_016878430.1:p.Thr51Ser

Select item 14473009383.

rs1447300938 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:75447609 (GRCh38)
16:75481507 (GRCh37)
Canonical SPDI:: NC_000016.10:75447608:C:T
Gene:: TMEM170A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.75447609C>T, NC_000016.9:g.75481507C>T, XM_011522869.3:c.357G>A, XM_011522869.2:c.357G>A, XM_011522869.1:c.357G>A, NM_145254.3:c.384G>A, NM_145254.2:c.384G>A, NM_145254.1:c.384G>A, XM_017022939.2:c.300G>A, XM_017022939.1:c.300G>A, XM_017022942.2:c.231G>A, XM_017022942.1:c.231G>A, XM_017022940.2:c.288G>A, XM_017022940.1:c.288G>A, NM_001304997.2:c.270G>A, NM_001304997.1:c.270G>A, NM_001304996.2:c.315G>A, NM_001304996.1:c.315G>A, XM_017022943.2:c.201G>A, XM_017022943.1:c.201G>A, XM_017022941.2:c.249G>A, XM_017022941.1:c.249G>A, NM_001304998.1:c.180G>A

Select item 14419318734.

rs1441931873 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:75451768 (GRCh38)
16:75485666 (GRCh37)
Canonical SPDI:: NC_000016.10:75451767:C:T
Gene:: TMEM170A (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000016.10:g.75451768C>T, NC_000016.9:g.75485666C>T, XM_011522869.3:c.178G>A, XM_011522869.2:c.178G>A, XM_011522869.1:c.178G>A, NM_145254.3:c.205G>A, NM_145254.2:c.205G>A, NM_145254.1:c.205G>A, XM_017022939.2:c.121G>A, XM_017022939.1:c.121G>A, XM_017022942.2:c.121G>A, XM_017022942.1:c.121G>A, XM_017022940.2:c.178G>A, XM_017022940.1:c.178G>A, NM_001304997.2:c.91G>A, NM_001304997.1:c.91G>A, NM_001304996.2:c.205G>A, NM_001304996.1:c.205G>A, XM_017022943.2:c.91G>A, XM_017022943.1:c.91G>A, XM_017022941.2:c.70G>A, XM_017022941.1:c.70G>A, NM_001304998.1:c.70G>A, XP_011521171.1:p.Ala60Thr, NP_660297.1:p.Ala69Thr, XP_016878428.1:p.Ala41Thr, XP_016878431.1:p.Ala41Thr, XP_016878429.1:p.Ala60Thr, NP_001291926.1:p.Ala31Thr, NP_001291925.1:p.Ala69Thr, XP_016878432.1:p.Ala31Thr, XP_016878430.1:p.Ala24Thr, NP_001291927.1:p.Ala24Thr

Select item 14350793135.

rs1435079313 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:75451688 (GRCh38)
16:75485586 (GRCh37)
Canonical SPDI:: NC_000016.10:75451687:A:C
Gene:: TMEM170A (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.75451688A>C, NC_000016.9:g.75485586A>C, XM_011522869.3:c.258T>G, XM_011522869.2:c.258T>G, XM_011522869.1:c.258T>G, NM_145254.3:c.285T>G, NM_145254.2:c.285T>G, NM_145254.1:c.285T>G, XM_017022939.2:c.201T>G, XM_017022939.1:c.201T>G, NM_001304997.2:c.171T>G, NM_001304997.1:c.171T>G, XM_017022941.2:c.150T>G, XM_017022941.1:c.150T>G, XP_011521171.1:p.Ile86Met, NP_660297.1:p.Ile95Met, XP_016878428.1:p.Ile67Met, NP_001291926.1:p.Ile57Met, XP_016878430.1:p.Ile50Met

Select item 14260008346.

rs1426000834 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:75451681 (GRCh38)
16:75485579 (GRCh37)
Canonical SPDI:: NC_000016.10:75451680:C:T
Gene:: TMEM170A (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.75451681C>T, NC_000016.9:g.75485579C>T, XM_011522869.3:c.265G>A, XM_011522869.2:c.265G>A, XM_011522869.1:c.265G>A, NM_145254.3:c.292G>A, NM_145254.2:c.292G>A, NM_145254.1:c.292G>A, XM_017022939.2:c.208G>A, XM_017022939.1:c.208G>A, NM_001304997.2:c.178G>A, NM_001304997.1:c.178G>A, XM_017022941.2:c.157G>A, XM_017022941.1:c.157G>A, XP_011521171.1:p.Gly89Arg, NP_660297.1:p.Gly98Arg, XP_016878428.1:p.Gly70Arg, NP_001291926.1:p.Gly60Arg, XP_016878430.1:p.Gly53Arg

Select item 14165142547.

rs1416514254 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:75451823 (GRCh38)
16:75485721 (GRCh37)
Canonical SPDI:: NC_000016.10:75451822:T:C
Gene:: TMEM170A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.75451823T>C, NC_000016.9:g.75485721T>C, XM_011522869.3:c.123A>G, XM_011522869.2:c.123A>G, XM_011522869.1:c.123A>G, NM_145254.3:c.150A>G, NM_145254.2:c.150A>G, NM_145254.1:c.150A>G, XM_017022939.2:c.66A>G, XM_017022939.1:c.66A>G, XM_017022942.2:c.66A>G, XM_017022942.1:c.66A>G, XM_017022940.2:c.123A>G, XM_017022940.1:c.123A>G, NM_001304997.2:c.36A>G, NM_001304997.1:c.36A>G, NM_001304996.2:c.150A>G, NM_001304996.1:c.150A>G, XM_017022943.2:c.36A>G, XM_017022943.1:c.36A>G, XM_017022941.2:c.15A>G, XM_017022941.1:c.15A>G, NM_001304998.1:c.15A>G

Select item 14041001618.

rs1404100161 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:75451824 (GRCh38)
16:75485722 (GRCh37)
Canonical SPDI:: NC_000016.10:75451823:A:G
Gene:: TMEM170A (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000016.10:g.75451824A>G, NC_000016.9:g.75485722A>G, XM_011522869.3:c.122T>C, XM_011522869.2:c.122T>C, XM_011522869.1:c.122T>C, NM_145254.3:c.149T>C, NM_145254.2:c.149T>C, NM_145254.1:c.149T>C, XM_017022939.2:c.65T>C, XM_017022939.1:c.65T>C, XM_017022942.2:c.65T>C, XM_017022942.1:c.65T>C, XM_017022940.2:c.122T>C, XM_017022940.1:c.122T>C, NM_001304997.2:c.35T>C, NM_001304997.1:c.35T>C, NM_001304996.2:c.149T>C, NM_001304996.1:c.149T>C, XM_017022943.2:c.35T>C, XM_017022943.1:c.35T>C, XM_017022941.2:c.14T>C, XM_017022941.1:c.14T>C, NM_001304998.1:c.14T>C, XP_011521171.1:p.Val41Ala, NP_660297.1:p.Val50Ala, XP_016878428.1:p.Val22Ala, XP_016878431.1:p.Val22Ala, XP_016878429.1:p.Val41Ala, NP_001291926.1:p.Val12Ala, NP_001291925.1:p.Val50Ala, XP_016878432.1:p.Val12Ala, XP_016878430.1:p.Val5Ala, NP_001291927.1:p.Val5Ala

Select item 13947535419.

rs1394753541 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:75451692 (GRCh38)
16:75485590 (GRCh37)
Canonical SPDI:: NC_000016.10:75451691:G:A,NC_000016.10:75451691:G:C
Gene:: TMEM170A (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000087/2 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.75451692G>A, NC_000016.10:g.75451692G>C, NC_000016.9:g.75485590G>A, NC_000016.9:g.75485590G>C, XM_011522869.3:c.254C>T, XM_011522869.3:c.254C>G, XM_011522869.2:c.254C>T, XM_011522869.2:c.254C>G, XM_011522869.1:c.254C>T, XM_011522869.1:c.254C>G, NM_145254.3:c.281C>T, NM_145254.3:c.281C>G, NM_145254.2:c.281C>T, NM_145254.2:c.281C>G, NM_145254.1:c.281C>T, NM_145254.1:c.281C>G, XM_017022939.2:c.197C>T, XM_017022939.2:c.197C>G, XM_017022939.1:c.197C>T, XM_017022939.1:c.197C>G, NM_001304997.2:c.167C>T, NM_001304997.2:c.167C>G, NM_001304997.1:c.167C>T, NM_001304997.1:c.167C>G, XM_017022941.2:c.146C>T, XM_017022941.2:c.146C>G, XM_017022941.1:c.146C>T, XM_017022941.1:c.146C>G, XP_011521171.1:p.Pro85Leu, XP_011521171.1:p.Pro85Arg, NP_660297.1:p.Pro94Leu, NP_660297.1:p.Pro94Arg, XP_016878428.1:p.Pro66Leu, XP_016878428.1:p.Pro66Arg, NP_001291926.1:p.Pro56Leu, NP_001291926.1:p.Pro56Arg, XP_016878430.1:p.Pro49Leu, XP_016878430.1:p.Pro49Arg

Select item 139273327710.

rs1392733277 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:75451803 (GRCh38)
16:75485701 (GRCh37)
Canonical SPDI:: NC_000016.10:75451802:G:C
Gene:: TMEM170A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000034/9 (TOPMED)
HGVS:: NC_000016.10:g.75451803G>C, NC_000016.9:g.75485701G>C, XM_011522869.3:c.143C>G, XM_011522869.2:c.143C>G, XM_011522869.1:c.143C>G, NM_145254.3:c.170C>G, NM_145254.2:c.170C>G, NM_145254.1:c.170C>G, XM_017022939.2:c.86C>G, XM_017022939.1:c.86C>G, XM_017022942.2:c.86C>G, XM_017022942.1:c.86C>G, XM_017022940.2:c.143C>G, XM_017022940.1:c.143C>G, NM_001304997.2:c.56C>G, NM_001304997.1:c.56C>G, NM_001304996.2:c.170C>G, NM_001304996.1:c.170C>G, XM_017022943.2:c.56C>G, XM_017022943.1:c.56C>G, XM_017022941.2:c.35C>G, XM_017022941.1:c.35C>G, NM_001304998.1:c.35C>G, XP_011521171.1:p.Ser48Cys, NP_660297.1:p.Ser57Cys, XP_016878428.1:p.Ser29Cys, XP_016878431.1:p.Ser29Cys, XP_016878429.1:p.Ser48Cys, NP_001291926.1:p.Ser19Cys, NP_001291925.1:p.Ser57Cys, XP_016878432.1:p.Ser19Cys, XP_016878430.1:p.Ser12Cys, NP_001291927.1:p.Ser12Cys

Select item 138997830111.

rs1389978301 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:75447623 (GRCh38)
16:75481521 (GRCh37)
Canonical SPDI:: NC_000016.10:75447622:G:A
Gene:: TMEM170A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.75447623G>A, NC_000016.9:g.75481521G>A, XM_011522869.3:c.343C>T, XM_011522869.2:c.343C>T, XM_011522869.1:c.343C>T, NM_145254.3:c.370C>T, NM_145254.2:c.370C>T, NM_145254.1:c.370C>T, XM_017022939.2:c.286C>T, XM_017022939.1:c.286C>T, XM_017022942.2:c.217C>T, XM_017022942.1:c.217C>T, XM_017022940.2:c.274C>T, XM_017022940.1:c.274C>T, NM_001304997.2:c.256C>T, NM_001304997.1:c.256C>T, NM_001304996.2:c.301C>T, NM_001304996.1:c.301C>T, XM_017022943.2:c.187C>T, XM_017022943.1:c.187C>T, XM_017022941.2:c.235C>T, XM_017022941.1:c.235C>T, NM_001304998.1:c.166C>T

Select item 138626866212.

rs1386268662 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:75447626 (GRCh38)
16:75481524 (GRCh37)
Canonical SPDI:: NC_000016.10:75447625:T:A
Gene:: TMEM170A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.75447626T>A, NC_000016.9:g.75481524T>A, XM_011522869.3:c.340A>T, XM_011522869.2:c.340A>T, XM_011522869.1:c.340A>T, NM_145254.3:c.367A>T, NM_145254.2:c.367A>T, NM_145254.1:c.367A>T, XM_017022939.2:c.283A>T, XM_017022939.1:c.283A>T, XM_017022942.2:c.214A>T, XM_017022942.1:c.214A>T, XM_017022940.2:c.271A>T, XM_017022940.1:c.271A>T, NM_001304997.2:c.253A>T, NM_001304997.1:c.253A>T, NM_001304996.2:c.298A>T, NM_001304996.1:c.298A>T, XM_017022943.2:c.184A>T, XM_017022943.1:c.184A>T, XM_017022941.2:c.232A>T, XM_017022941.1:c.232A>T, NM_001304998.1:c.163A>T, XP_011521171.1:p.Thr114Ser, NP_660297.1:p.Thr123Ser, XP_016878428.1:p.Thr95Ser, XP_016878431.1:p.Thr72Ser, XP_016878429.1:p.Thr91Ser, NP_001291926.1:p.Thr85Ser, NP_001291925.1:p.Thr100Ser, XP_016878432.1:p.Thr62Ser, XP_016878430.1:p.Thr78Ser, NP_001291927.1:p.Thr55Ser

Select item 136917265413.

rs1369172654 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:75451700 (GRCh38)
16:75485598 (GRCh37)
Canonical SPDI:: NC_000016.10:75451699:G:A,NC_000016.10:75451699:G:C
Gene:: TMEM170A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.75451700G>A, NC_000016.10:g.75451700G>C, NC_000016.9:g.75485598G>A, NC_000016.9:g.75485598G>C, XM_011522869.3:c.246C>T, XM_011522869.3:c.246C>G, XM_011522869.2:c.246C>T, XM_011522869.2:c.246C>G, XM_011522869.1:c.246C>T, XM_011522869.1:c.246C>G, NM_145254.3:c.273C>T, NM_145254.3:c.273C>G, NM_145254.2:c.273C>T, NM_145254.2:c.273C>G, NM_145254.1:c.273C>T, NM_145254.1:c.273C>G, XM_017022939.2:c.189C>T, XM_017022939.2:c.189C>G, XM_017022939.1:c.189C>T, XM_017022939.1:c.189C>G, NM_001304997.2:c.159C>T, NM_001304997.2:c.159C>G, NM_001304997.1:c.159C>T, NM_001304997.1:c.159C>G, XM_017022941.2:c.138C>T, XM_017022941.2:c.138C>G, XM_017022941.1:c.138C>T, XM_017022941.1:c.138C>G, XP_011521171.1:p.Ile82Met, NP_660297.1:p.Ile91Met, XP_016878428.1:p.Ile63Met, NP_001291926.1:p.Ile53Met, XP_016878430.1:p.Ile46Met

Select item 136753396214.

rs1367533962 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:75447633 (GRCh38)
16:75481531 (GRCh37)
Canonical SPDI:: NC_000016.10:75447632:T:C
Gene:: TMEM170A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.75447633T>C, NC_000016.9:g.75481531T>C, XM_011522869.3:c.333A>G, XM_011522869.2:c.333A>G, XM_011522869.1:c.333A>G, NM_145254.3:c.360A>G, NM_145254.2:c.360A>G, NM_145254.1:c.360A>G, XM_017022939.2:c.276A>G, XM_017022939.1:c.276A>G, XM_017022942.2:c.207A>G, XM_017022942.1:c.207A>G, XM_017022940.2:c.264A>G, XM_017022940.1:c.264A>G, NM_001304997.2:c.246A>G, NM_001304997.1:c.246A>G, NM_001304996.2:c.291A>G, NM_001304996.1:c.291A>G, XM_017022943.2:c.177A>G, XM_017022943.1:c.177A>G, XM_017022941.2:c.225A>G, XM_017022941.1:c.225A>G, NM_001304998.1:c.156A>G

Select item 135633700115.

rs1356337001 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:75447664 (GRCh38)
16:75481562 (GRCh37)
Canonical SPDI:: NC_000016.10:75447663:C:G,NC_000016.10:75447663:C:T
Gene:: TMEM170A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.75447664C>G, NC_000016.10:g.75447664C>T, NC_000016.9:g.75481562C>G, NC_000016.9:g.75481562C>T, XM_011522869.3:c.302G>C, XM_011522869.3:c.302G>A, XM_011522869.2:c.302G>C, XM_011522869.2:c.302G>A, XM_011522869.1:c.302G>C, XM_011522869.1:c.302G>A, NM_145254.3:c.329G>C, NM_145254.3:c.329G>A, NM_145254.2:c.329G>C, NM_145254.2:c.329G>A, NM_145254.1:c.329G>C, NM_145254.1:c.329G>A, XM_017022939.2:c.245G>C, XM_017022939.2:c.245G>A, XM_017022939.1:c.245G>C, XM_017022939.1:c.245G>A, XM_017022942.2:c.176G>C, XM_017022942.2:c.176G>A, XM_017022942.1:c.176G>C, XM_017022942.1:c.176G>A, XM_017022940.2:c.233G>C, XM_017022940.2:c.233G>A, XM_017022940.1:c.233G>C, XM_017022940.1:c.233G>A, NM_001304997.2:c.215G>C, NM_001304997.2:c.215G>A, NM_001304997.1:c.215G>C, NM_001304997.1:c.215G>A, NM_001304996.2:c.260G>C, NM_001304996.2:c.260G>A, NM_001304996.1:c.260G>C, NM_001304996.1:c.260G>A, XM_017022943.2:c.146G>C, XM_017022943.2:c.146G>A, XM_017022943.1:c.146G>C, XM_017022943.1:c.146G>A, XM_017022941.2:c.194G>C, XM_017022941.2:c.194G>A, XM_017022941.1:c.194G>C, XM_017022941.1:c.194G>A, NM_001304998.1:c.125G>C, NM_001304998.1:c.125G>A, XP_011521171.1:p.Arg101Pro, XP_011521171.1:p.Arg101Gln, NP_660297.1:p.Arg110Pro, NP_660297.1:p.Arg110Gln, XP_016878428.1:p.Arg82Pro, XP_016878428.1:p.Arg82Gln, XP_016878431.1:p.Arg59Pro, XP_016878431.1:p.Arg59Gln, XP_016878429.1:p.Arg78Pro, XP_016878429.1:p.Arg78Gln, NP_001291926.1:p.Arg72Pro, NP_001291926.1:p.Arg72Gln, NP_001291925.1:p.Arg87Pro, NP_001291925.1:p.Arg87Gln, XP_016878432.1:p.Arg49Pro, XP_016878432.1:p.Arg49Gln, XP_016878430.1:p.Arg65Pro, XP_016878430.1:p.Arg65Gln, NP_001291927.1:p.Arg42Pro, NP_001291927.1:p.Arg42Gln

Select item 135218613416.

rs1352186134 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:75451752 (GRCh38)
16:75485650 (GRCh37)
Canonical SPDI:: NC_000016.10:75451751:C:A
Gene:: TMEM170A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.75451752C>A, NC_000016.9:g.75485650C>A, XM_011522869.3:c.194G>T, XM_011522869.2:c.194G>T, XM_011522869.1:c.194G>T, NM_145254.3:c.221G>T, NM_145254.2:c.221G>T, NM_145254.1:c.221G>T, XM_017022939.2:c.137G>T, XM_017022939.1:c.137G>T, XM_017022942.2:c.137G>T, XM_017022942.1:c.137G>T, XM_017022940.2:c.194G>T, XM_017022940.1:c.194G>T, NM_001304997.2:c.107G>T, NM_001304997.1:c.107G>T, NM_001304996.2:c.221G>T, NM_001304996.1:c.221G>T, XM_017022943.2:c.107G>T, XM_017022943.1:c.107G>T, XM_017022941.2:c.86G>T, XM_017022941.1:c.86G>T, NM_001304998.1:c.86G>T, XP_011521171.1:p.Arg65Ile, NP_660297.1:p.Arg74Ile, XP_016878428.1:p.Arg46Ile, XP_016878431.1:p.Arg46Ile, XP_016878429.1:p.Arg65Ile, NP_001291926.1:p.Arg36Ile, NP_001291925.1:p.Arg74Ile, XP_016878432.1:p.Arg36Ile, XP_016878430.1:p.Arg29Ile, NP_001291927.1:p.Arg29Ile

Select item 134730802917.

rs1347308029 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 16:75451801 (GRCh38)
16:75485699 (GRCh37)
Canonical SPDI:: NC_000016.10:75451800:AA:
Gene:: TMEM170A (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000016.10:g.75451801_75451802del, NC_000016.9:g.75485699_75485700del, XM_011522869.3:c.144_145del, XM_011522869.2:c.144_145del, XM_011522869.1:c.144_145del, NM_145254.3:c.171_172del, NM_145254.2:c.171_172del, NM_145254.1:c.171_172del, XM_017022939.2:c.87_88del, XM_017022939.1:c.87_88del, XM_017022942.2:c.87_88del, XM_017022942.1:c.87_88del, XM_017022940.2:c.144_145del, XM_017022940.1:c.144_145del, NM_001304997.2:c.57_58del, NM_001304997.1:c.57_58del, NM_001304996.2:c.171_172del, NM_001304996.1:c.171_172del, XM_017022943.2:c.57_58del, XM_017022943.1:c.57_58del, XM_017022941.2:c.36_37del, XM_017022941.1:c.36_37del, NM_001304998.1:c.36_37del, XP_011521171.1:p.Phe51fs, NP_660297.1:p.Phe60fs, XP_016878428.1:p.Phe32fs, XP_016878431.1:p.Phe32fs, XP_016878429.1:p.Phe51fs, NP_001291926.1:p.Phe22fs, NP_001291925.1:p.Phe60fs, XP_016878432.1:p.Phe22fs, XP_016878430.1:p.Phe15fs, NP_001291927.1:p.Phe15fs

Select item 134694459918.

rs1346944599 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:75451789 (GRCh38)
16:75485687 (GRCh37)
Canonical SPDI:: NC_000016.10:75451788:G:A,NC_000016.10:75451788:G:T
Gene:: TMEM170A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.75451789G>A, NC_000016.10:g.75451789G>T, NC_000016.9:g.75485687G>A, NC_000016.9:g.75485687G>T, XM_011522869.3:c.157C>T, XM_011522869.3:c.157C>A, XM_011522869.2:c.157C>T, XM_011522869.2:c.157C>A, XM_011522869.1:c.157C>T, XM_011522869.1:c.157C>A, NM_145254.3:c.184C>T, NM_145254.3:c.184C>A, NM_145254.2:c.184C>T, NM_145254.2:c.184C>A, NM_145254.1:c.184C>T, NM_145254.1:c.184C>A, XM_017022939.2:c.100C>T, XM_017022939.2:c.100C>A, XM_017022939.1:c.100C>T, XM_017022939.1:c.100C>A, XM_017022942.2:c.100C>T, XM_017022942.2:c.100C>A, XM_017022942.1:c.100C>T, XM_017022942.1:c.100C>A, XM_017022940.2:c.157C>T, XM_017022940.2:c.157C>A, XM_017022940.1:c.157C>T, XM_017022940.1:c.157C>A, NM_001304997.2:c.70C>T, NM_001304997.2:c.70C>A, NM_001304997.1:c.70C>T, NM_001304997.1:c.70C>A, NM_001304996.2:c.184C>T, NM_001304996.2:c.184C>A, NM_001304996.1:c.184C>T, NM_001304996.1:c.184C>A, XM_017022943.2:c.70C>T, XM_017022943.2:c.70C>A, XM_017022943.1:c.70C>T, XM_017022943.1:c.70C>A, XM_017022941.2:c.49C>T, XM_017022941.2:c.49C>A, XM_017022941.1:c.49C>T, XM_017022941.1:c.49C>A, NM_001304998.1:c.49C>T, NM_001304998.1:c.49C>A, XP_011521171.1:p.His53Tyr, XP_011521171.1:p.His53Asn, NP_660297.1:p.His62Tyr, NP_660297.1:p.His62Asn, XP_016878428.1:p.His34Tyr, XP_016878428.1:p.His34Asn, XP_016878431.1:p.His34Tyr, XP_016878431.1:p.His34Asn, XP_016878429.1:p.His53Tyr, XP_016878429.1:p.His53Asn, NP_001291926.1:p.His24Tyr, NP_001291926.1:p.His24Asn, NP_001291925.1:p.His62Tyr, NP_001291925.1:p.His62Asn, XP_016878432.1:p.His24Tyr, XP_016878432.1:p.His24Asn, XP_016878430.1:p.His17Tyr, XP_016878430.1:p.His17Asn, NP_001291927.1:p.His17Tyr, NP_001291927.1:p.His17Asn

Select item 134465177019.

rs1344651770 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:75447573 (GRCh38)
16:75481471 (GRCh37)
Canonical SPDI:: NC_000016.10:75447572:A:G
Gene:: TMEM170A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.75447573A>G, NC_000016.9:g.75481471A>G, XM_011522869.3:c.393T>C, XM_011522869.2:c.393T>C, XM_011522869.1:c.393T>C, NM_145254.3:c.420T>C, NM_145254.2:c.420T>C, NM_145254.1:c.420T>C, XM_017022939.2:c.336T>C, XM_017022939.1:c.336T>C, XM_017022942.2:c.267T>C, XM_017022942.1:c.267T>C, XM_017022940.2:c.324T>C, XM_017022940.1:c.324T>C, NM_001304997.2:c.306T>C, NM_001304997.1:c.306T>C, NM_001304996.2:c.351T>C, NM_001304996.1:c.351T>C, XM_017022943.2:c.237T>C, XM_017022943.1:c.237T>C, XM_017022941.2:c.285T>C, XM_017022941.1:c.285T>C, NM_001304998.1:c.216T>C

Select item 132556192020.

rs1325561920 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAC>- [Show Flanks]
Chromosome:: 16:75451833 (GRCh38)
16:75485731 (GRCh37)
Canonical SPDI:: NC_000016.10:75451830:ACCAC:AC
Gene:: TMEM170A (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant,initiator_codon_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.75451833_75451835del, NC_000016.9:g.75485731_75485733del, XM_011522869.3:c.113_115del, XM_011522869.2:c.113_115del, XM_011522869.1:c.113_115del, NM_145254.3:c.140_142del, NM_145254.2:c.140_142del, NM_145254.1:c.140_142del, XM_017022939.2:c.56_58del, XM_017022939.1:c.56_58del, XM_017022942.2:c.56_58del, XM_017022942.1:c.56_58del, XM_017022940.2:c.113_115del, XM_017022940.1:c.113_115del, NM_001304997.2:c.26_28del, NM_001304997.1:c.26_28del, NM_001304996.2:c.140_142del, NM_001304996.1:c.140_142del, XM_017022943.2:c.26_28del, XM_017022943.1:c.26_28del, XM_017022941.2:c.5_7del, XM_017022941.1:c.5_7del, NM_001304998.1:c.5_7del, XP_011521171.1:p.Trp38del, NP_660297.1:p.Trp47del, XP_016878428.1:p.Trp19del, XP_016878431.1:p.Trp19del, XP_016878429.1:p.Trp38del, NP_001291926.1:p.Trp9del, NP_001291925.1:p.Trp47del, XP_016878432.1:p.Trp9del, XP_016878430.1:p.Trp2del, NP_001291927.1:p.Trp2del

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