SNP Links for Protein (Select 1034565896) - SNP

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Links from Protein

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Select item 14897706461.

rs1489770646 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:47922804 (GRCh38)
10:47087600 (GRCh37)
Canonical SPDI:: NC_000010.11:47922803:G:T
Gene:: ANXA8 (Varview), NPY4R2 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.47922804G>T, NW_003871068.1:g.2112700G>T, NW_021160001.1:g.141086G>T, NC_000010.10:g.47087600G>T, XM_006717545.4:c.817G>T, XM_006717545.3:c.817G>T, XM_006717545.2:c.817G>T, XM_006717545.1:c.817G>T, XM_011539115.3:c.817G>T, XM_011539115.2:c.817G>T, XM_011539115.1:c.817G>T, XM_017015464.2:c.817G>T, XM_017015464.1:c.817G>T, NM_001278795.2:c.817G>T, NM_001278795.1:c.817G>T, NM_001395253.1:c.817G>T, XP_006717608.1:p.Ala273Ser, XP_011537417.1:p.Ala273Ser, XP_016870953.1:p.Ala273Ser, NP_001265724.1:p.Ala273Ser, NP_001382182.1:p.Ala273Ser

Select item 14862571042.

rs1486257104 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:47922003 (GRCh38)
10:47086799 (GRCh37)
Canonical SPDI:: NC_000010.11:47922002:C:G,NC_000010.11:47922002:C:T
Gene:: ANXA8 (Varview), NPY4R2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000027/3 (GnomAD)
HGVS:: NC_000010.11:g.47922003C>G, NC_000010.11:g.47922003C>T, NW_003871068.1:g.2111899C>G, NW_003871068.1:g.2111899C>T, NW_021160001.1:g.140285C>G, NW_021160001.1:g.140285C>T, NC_000010.10:g.47086799C>G, NC_000010.10:g.47086799C>T, XM_006717545.4:c.16C>G, XM_006717545.4:c.16C>T, XM_006717545.3:c.16C>G, XM_006717545.3:c.16C>T, XM_006717545.2:c.16C>G, XM_006717545.2:c.16C>T, XM_006717545.1:c.16C>G, XM_006717545.1:c.16C>T, XM_011539115.3:c.16C>G, XM_011539115.3:c.16C>T, XM_011539115.2:c.16C>G, XM_011539115.2:c.16C>T, XM_011539115.1:c.16C>G, XM_011539115.1:c.16C>T, XM_017015464.2:c.16C>G, XM_017015464.2:c.16C>T, XM_017015464.1:c.16C>G, XM_017015464.1:c.16C>T, NM_001278795.2:c.16C>G, NM_001278795.2:c.16C>T, NM_001278795.1:c.16C>G, NM_001278795.1:c.16C>T, NM_001395253.1:c.16C>G, NM_001395253.1:c.16C>T, XP_006717608.1:p.Leu6Val, XP_006717608.1:p.Leu6Phe, XP_011537417.1:p.Leu6Val, XP_011537417.1:p.Leu6Phe, XP_016870953.1:p.Leu6Val, XP_016870953.1:p.Leu6Phe, NP_001265724.1:p.Leu6Val, NP_001265724.1:p.Leu6Phe, NP_001382182.1:p.Leu6Val, NP_001382182.1:p.Leu6Phe

Select item 14774109343.

rs1477410934 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:47922118 (GRCh38)
10:47086914 (GRCh37)
Canonical SPDI:: NC_000010.11:47922117:T:C
Gene:: ANXA8 (Varview), NPY4R2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000010.11:g.47922118T>C, NW_003871068.1:g.2112014T>C, NW_021160001.1:g.140400T>C, NC_000010.10:g.47086914T>C, XM_006717545.4:c.131T>C, XM_006717545.3:c.131T>C, XM_006717545.2:c.131T>C, XM_006717545.1:c.131T>C, XM_011539115.3:c.131T>C, XM_011539115.2:c.131T>C, XM_011539115.1:c.131T>C, XM_017015464.2:c.131T>C, XM_017015464.1:c.131T>C, NM_001278795.2:c.131T>C, NM_001278795.1:c.131T>C, NM_001395253.1:c.131T>C, XP_006717608.1:p.Ile44Thr, XP_011537417.1:p.Ile44Thr, XP_016870953.1:p.Ile44Thr, NP_001265724.1:p.Ile44Thr, NP_001382182.1:p.Ile44Thr

Select item 14704146654.

rs1470414665 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:47922645 (GRCh38)
10:47087441 (GRCh37)
Canonical SPDI:: NC_000010.11:47922644:C:T
Gene:: ANXA8 (Varview), NPY4R2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.47922645C>T, NW_003871068.1:g.2112541C>T, NW_021160001.1:g.140927C>T, NC_000010.10:g.47087441C>T, XM_006717545.4:c.658C>T, XM_006717545.3:c.658C>T, XM_006717545.2:c.658C>T, XM_006717545.1:c.658C>T, XM_011539115.3:c.658C>T, XM_011539115.2:c.658C>T, XM_011539115.1:c.658C>T, XM_017015464.2:c.658C>T, XM_017015464.1:c.658C>T, NM_001278795.2:c.658C>T, NM_001278795.1:c.658C>T, NM_001395253.1:c.658C>T, XP_006717608.1:p.Leu220Phe, XP_011537417.1:p.Leu220Phe, XP_016870953.1:p.Leu220Phe, NP_001265724.1:p.Leu220Phe, NP_001382182.1:p.Leu220Phe

Select item 14679230935.

rs1467923093 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:47922944 (GRCh38)
10:47087740 (GRCh37)
Canonical SPDI:: NC_000010.11:47922943:A:C
Gene:: ANXA8 (Varview), NPY4R2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000010.11:g.47922944A>C, NW_003871068.1:g.2112840A>C, NW_021160001.1:g.141226A>C, NC_000010.10:g.47087740A>C, XM_006717545.4:c.957A>C, XM_006717545.3:c.957A>C, XM_006717545.2:c.957A>C, XM_006717545.1:c.957A>C, XM_011539115.3:c.957A>C, XM_011539115.2:c.957A>C, XM_011539115.1:c.957A>C, XM_017015464.2:c.957A>C, XM_017015464.1:c.957A>C, NM_001278795.2:c.957A>C, NM_001278795.1:c.957A>C, NM_001395253.1:c.957A>C

Select item 14628500896.

rs1462850089 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:47922997 (GRCh38)
10:47087793 (GRCh37)
Canonical SPDI:: NC_000010.11:47922996:T:C
Gene:: ANXA8 (Varview), NPY4R2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000010.11:g.47922997T>C, NW_003871068.1:g.2112893T>C, NW_021160001.1:g.141279T>C, NC_000010.10:g.47087793T>C, XM_006717545.4:c.1010T>C, XM_006717545.3:c.1010T>C, XM_006717545.2:c.1010T>C, XM_006717545.1:c.1010T>C, XM_011539115.3:c.1010T>C, XM_011539115.2:c.1010T>C, XM_011539115.1:c.1010T>C, XM_017015464.2:c.1010T>C, XM_017015464.1:c.1010T>C, NM_001278795.2:c.1010T>C, NM_001278795.1:c.1010T>C, NM_001395253.1:c.1010T>C, XP_006717608.1:p.Val337Ala, XP_011537417.1:p.Val337Ala, XP_016870953.1:p.Val337Ala, NP_001265724.1:p.Val337Ala, NP_001382182.1:p.Val337Ala

Select item 14615136957.

rs1461513695 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:47922685 (GRCh38)
10:47087481 (GRCh37)
Canonical SPDI:: NC_000010.11:47922684:G:A
Gene:: ANXA8 (Varview), NPY4R2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.47922685G>A, NW_003871068.1:g.2112581G>A, NW_021160001.1:g.140967G>A, NC_000010.10:g.47087481G>A, XM_006717545.4:c.698G>A, XM_006717545.3:c.698G>A, XM_006717545.2:c.698G>A, XM_006717545.1:c.698G>A, XM_011539115.3:c.698G>A, XM_011539115.2:c.698G>A, XM_011539115.1:c.698G>A, XM_017015464.2:c.698G>A, XM_017015464.1:c.698G>A, NM_001278795.2:c.698G>A, NM_001278795.1:c.698G>A, NM_001395253.1:c.698G>A, XP_006717608.1:p.Cys233Tyr, XP_011537417.1:p.Cys233Tyr, XP_016870953.1:p.Cys233Tyr, NP_001265724.1:p.Cys233Tyr, NP_001382182.1:p.Cys233Tyr

Select item 14548353028.

rs1454835302 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:47922879 (GRCh38)
10:47087675 (GRCh37)
Canonical SPDI:: NC_000010.11:47922878:T:C
Gene:: ANXA8 (Varview), NPY4R2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.47922879T>C, NW_003871068.1:g.2112775T>C, NW_021160001.1:g.141161T>C, NC_000010.10:g.47087675T>C, XM_006717545.4:c.892T>C, XM_006717545.3:c.892T>C, XM_006717545.2:c.892T>C, XM_006717545.1:c.892T>C, XM_011539115.3:c.892T>C, XM_011539115.2:c.892T>C, XM_011539115.1:c.892T>C, XM_017015464.2:c.892T>C, XM_017015464.1:c.892T>C, NM_001278795.2:c.892T>C, NM_001278795.1:c.892T>C, NM_001395253.1:c.892T>C, XP_006717608.1:p.Cys298Arg, XP_011537417.1:p.Cys298Arg, XP_016870953.1:p.Cys298Arg, NP_001265724.1:p.Cys298Arg, NP_001382182.1:p.Cys298Arg

Select item 14464623749.

rs1446462374 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:47923059 (GRCh38)
10:47087855 (GRCh37)
Canonical SPDI:: NC_000010.11:47923058:C:T
Gene:: ANXA8 (Varview), NPY4R2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.47923059C>T, NW_003871068.1:g.2112955C>T, NW_021160001.1:g.141341C>T, NC_000010.10:g.47087855C>T, XM_006717545.4:c.1072C>T, XM_006717545.3:c.1072C>T, XM_006717545.2:c.1072C>T, XM_006717545.1:c.1072C>T, XM_011539115.3:c.1072C>T, XM_011539115.2:c.1072C>T, XM_011539115.1:c.1072C>T, XM_017015464.2:c.1072C>T, XM_017015464.1:c.1072C>T, NM_001278795.2:c.1072C>T, NM_001278795.1:c.1072C>T, NM_001395253.1:c.1072C>T, XP_006717608.1:p.His358Tyr, XP_011537417.1:p.His358Tyr, XP_016870953.1:p.His358Tyr, NP_001265724.1:p.His358Tyr, NP_001382182.1:p.His358Tyr

Select item 144465056710.

rs1444650567 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:47922722 (GRCh38)
10:47087518 (GRCh37)
Canonical SPDI:: NC_000010.11:47922721:G:A
Gene:: ANXA8 (Varview), NPY4R2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.47922722G>A, NW_003871068.1:g.2112618G>A, NW_021160001.1:g.141004G>A, NC_000010.10:g.47087518G>A, XM_006717545.4:c.735G>A, XM_006717545.3:c.735G>A, XM_006717545.2:c.735G>A, XM_006717545.1:c.735G>A, XM_011539115.3:c.735G>A, XM_011539115.2:c.735G>A, XM_011539115.1:c.735G>A, XM_017015464.2:c.735G>A, XM_017015464.1:c.735G>A, NM_001278795.2:c.735G>A, NM_001278795.1:c.735G>A, NM_001395253.1:c.735G>A

Select item 144244721111.

rs1442447211 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:47922442 (GRCh38)
10:47087238 (GRCh37)
Canonical SPDI:: NC_000010.11:47922441:G:A,NC_000010.11:47922441:G:C
Gene:: ANXA8 (Varview), NPY4R2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000009/1 (GnomAD)
A=0.00006/1 (TOMMO)
HGVS:: NC_000010.11:g.47922442G>A, NC_000010.11:g.47922442G>C, NW_003871068.1:g.2112338G>A, NW_003871068.1:g.2112338G>C, NW_021160001.1:g.140724G>A, NW_021160001.1:g.140724G>C, NC_000010.10:g.47087238G>A, NC_000010.10:g.47087238G>C, XM_006717545.4:c.455G>A, XM_006717545.4:c.455G>C, XM_006717545.3:c.455G>A, XM_006717545.3:c.455G>C, XM_006717545.2:c.455G>A, XM_006717545.2:c.455G>C, XM_006717545.1:c.455G>A, XM_006717545.1:c.455G>C, XM_011539115.3:c.455G>A, XM_011539115.3:c.455G>C, XM_011539115.2:c.455G>A, XM_011539115.2:c.455G>C, XM_011539115.1:c.455G>A, XM_011539115.1:c.455G>C, XM_017015464.2:c.455G>A, XM_017015464.2:c.455G>C, XM_017015464.1:c.455G>A, XM_017015464.1:c.455G>C, NM_001278795.2:c.455G>A, NM_001278795.2:c.455G>C, NM_001278795.1:c.455G>A, NM_001278795.1:c.455G>C, NM_001395253.1:c.455G>A, NM_001395253.1:c.455G>C, XP_006717608.1:p.Ser152Asn, XP_006717608.1:p.Ser152Thr, XP_011537417.1:p.Ser152Asn, XP_011537417.1:p.Ser152Thr, XP_016870953.1:p.Ser152Asn, XP_016870953.1:p.Ser152Thr, NP_001265724.1:p.Ser152Asn, NP_001265724.1:p.Ser152Thr, NP_001382182.1:p.Ser152Asn, NP_001382182.1:p.Ser152Thr

Select item 143112284912.

rs1431122849 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:47922885 (GRCh38)
10:47087681 (GRCh37)
Canonical SPDI:: NC_000010.11:47922884:G:A,NC_000010.11:47922884:G:C
Gene:: ANXA8 (Varview), NPY4R2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000010.11:g.47922885G>A, NC_000010.11:g.47922885G>C, NW_003871068.1:g.2112781G>A, NW_003871068.1:g.2112781G>C, NW_021160001.1:g.141167G>A, NW_021160001.1:g.141167G>C, NC_000010.10:g.47087681G>A, NC_000010.10:g.47087681G>C, XM_006717545.4:c.898G>A, XM_006717545.4:c.898G>C, XM_006717545.3:c.898G>A, XM_006717545.3:c.898G>C, XM_006717545.2:c.898G>A, XM_006717545.2:c.898G>C, XM_006717545.1:c.898G>A, XM_006717545.1:c.898G>C, XM_011539115.3:c.898G>A, XM_011539115.3:c.898G>C, XM_011539115.2:c.898G>A, XM_011539115.2:c.898G>C, XM_011539115.1:c.898G>A, XM_011539115.1:c.898G>C, XM_017015464.2:c.898G>A, XM_017015464.2:c.898G>C, XM_017015464.1:c.898G>A, XM_017015464.1:c.898G>C, NM_001278795.2:c.898G>A, NM_001278795.2:c.898G>C, NM_001278795.1:c.898G>A, NM_001278795.1:c.898G>C, NM_001395253.1:c.898G>A, NM_001395253.1:c.898G>C, XP_006717608.1:p.Gly300Arg, XP_006717608.1:p.Gly300Arg, XP_011537417.1:p.Gly300Arg, XP_011537417.1:p.Gly300Arg, XP_016870953.1:p.Gly300Arg, XP_016870953.1:p.Gly300Arg, NP_001265724.1:p.Gly300Arg, NP_001265724.1:p.Gly300Arg, NP_001382182.1:p.Gly300Arg, NP_001382182.1:p.Gly300Arg

Select item 142482123213.

rs1424821232 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATGGTGGTG>- [Show Flanks]
Chromosome:: 10:47922795 (GRCh38)
10:47087591 (GRCh37)
Canonical SPDI:: NC_000010.11:47922786:TGGTGGTGATGGTGGTG:TGGTGGTG
Gene:: ANXA8 (Varview), NPY4R2 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGGTGGTG=0.000084/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000008/1 (ExAC)
HGVS:: NC_000010.11:g.47922795_47922803del, NW_003871068.1:g.2112691_2112699del, NW_021160001.1:g.141077_141085del, NC_000010.10:g.47087591_47087599del, XM_006717545.4:c.808_816del, XM_006717545.3:c.808_816del, XM_006717545.2:c.808_816del, XM_006717545.1:c.808_816del, XM_011539115.3:c.808_816del, XM_011539115.2:c.808_816del, XM_011539115.1:c.808_816del, XM_017015464.2:c.808_816del, XM_017015464.1:c.808_816del, NM_001278795.2:c.808_816del, NM_001278795.1:c.808_816del, NM_001395253.1:c.808_816del, XP_006717608.1:p.Met270_Val272del, XP_011537417.1:p.Met270_Val272del, XP_016870953.1:p.Met270_Val272del, NP_001265724.1:p.Met270_Val272del, NP_001382182.1:p.Met270_Val272del

Select item 142091747614.

rs1420917476 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:47922662 (GRCh38)
10:47087458 (GRCh37)
Canonical SPDI:: NC_000010.11:47922661:C:G
Gene:: ANXA8 (Varview), NPY4R2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000010.11:g.47922662C>G, NW_003871068.1:g.2112558C>G, NW_021160001.1:g.140944C>G, NC_000010.10:g.47087458C>G, XM_006717545.4:c.675C>G, XM_006717545.3:c.675C>G, XM_006717545.2:c.675C>G, XM_006717545.1:c.675C>G, XM_011539115.3:c.675C>G, XM_011539115.2:c.675C>G, XM_011539115.1:c.675C>G, XM_017015464.2:c.675C>G, XM_017015464.1:c.675C>G, NM_001278795.2:c.675C>G, NM_001278795.1:c.675C>G, NM_001395253.1:c.675C>G

Select item 142052771815.

rs1420527718 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 10:47922791 (GRCh38)
10:47087587 (GRCh37)
Canonical SPDI:: NC_000010.11:47922790:G:C,NC_000010.11:47922790:G:T
Gene:: ANXA8 (Varview), NPY4R2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.47922791G>C, NC_000010.11:g.47922791G>T, NW_003871068.1:g.2112687G>C, NW_003871068.1:g.2112687G>T, NW_021160001.1:g.141073G>C, NW_021160001.1:g.141073G>T, NC_000010.10:g.47087587G>C, NC_000010.10:g.47087587G>T, XM_006717545.4:c.804G>C, XM_006717545.4:c.804G>T, XM_006717545.3:c.804G>C, XM_006717545.3:c.804G>T, XM_006717545.2:c.804G>C, XM_006717545.2:c.804G>T, XM_006717545.1:c.804G>C, XM_006717545.1:c.804G>T, XM_011539115.3:c.804G>C, XM_011539115.3:c.804G>T, XM_011539115.2:c.804G>C, XM_011539115.2:c.804G>T, XM_011539115.1:c.804G>C, XM_011539115.1:c.804G>T, XM_017015464.2:c.804G>C, XM_017015464.2:c.804G>T, XM_017015464.1:c.804G>C, XM_017015464.1:c.804G>T, NM_001278795.2:c.804G>C, NM_001278795.2:c.804G>T, NM_001278795.1:c.804G>C, NM_001278795.1:c.804G>T, NM_001395253.1:c.804G>C, NM_001395253.1:c.804G>T

Select item 141194182816.

rs1411941828 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:47922660 (GRCh38)
10:47087456 (GRCh37)
Canonical SPDI:: NC_000010.11:47922659:C:T
Gene:: ANXA8 (Varview), NPY4R2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.47922660C>T, NW_003871068.1:g.2112556C>T, NW_021160001.1:g.140942C>T, NC_000010.10:g.47087456C>T, XM_006717545.4:c.673C>T, XM_006717545.3:c.673C>T, XM_006717545.2:c.673C>T, XM_006717545.1:c.673C>T, XM_011539115.3:c.673C>T, XM_011539115.2:c.673C>T, XM_011539115.1:c.673C>T, XM_017015464.2:c.673C>T, XM_017015464.1:c.673C>T, NM_001278795.2:c.673C>T, NM_001278795.1:c.673C>T, NM_001395253.1:c.673C>T, XP_006717608.1:p.Leu225Phe, XP_011537417.1:p.Leu225Phe, XP_016870953.1:p.Leu225Phe, NP_001265724.1:p.Leu225Phe, NP_001382182.1:p.Leu225Phe

Select item 141038355017.

rs1410383550 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:47922370 (GRCh38)
10:47087166 (GRCh37)
Canonical SPDI:: NC_000010.11:47922369:C:G,NC_000010.11:47922369:C:T
Gene:: ANXA8 (Varview), NPY4R2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
T=0.00004/1 (TOMMO)
HGVS:: NC_000010.11:g.47922370C>G, NC_000010.11:g.47922370C>T, NW_003871068.1:g.2112266C>G, NW_003871068.1:g.2112266C>T, NW_021160001.1:g.140652C>G, NW_021160001.1:g.140652C>T, NC_000010.10:g.47087166C>G, NC_000010.10:g.47087166C>T, XM_006717545.4:c.383C>G, XM_006717545.4:c.383C>T, XM_006717545.3:c.383C>G, XM_006717545.3:c.383C>T, XM_006717545.2:c.383C>G, XM_006717545.2:c.383C>T, XM_006717545.1:c.383C>G, XM_006717545.1:c.383C>T, XM_011539115.3:c.383C>G, XM_011539115.3:c.383C>T, XM_011539115.2:c.383C>G, XM_011539115.2:c.383C>T, XM_011539115.1:c.383C>G, XM_011539115.1:c.383C>T, XM_017015464.2:c.383C>G, XM_017015464.2:c.383C>T, XM_017015464.1:c.383C>G, XM_017015464.1:c.383C>T, NM_001278795.2:c.383C>G, NM_001278795.2:c.383C>T, NM_001278795.1:c.383C>G, NM_001278795.1:c.383C>T, NM_001395253.1:c.383C>G, NM_001395253.1:c.383C>T, XP_006717608.1:p.Ser128Cys, XP_006717608.1:p.Ser128Phe, XP_011537417.1:p.Ser128Cys, XP_011537417.1:p.Ser128Phe, XP_016870953.1:p.Ser128Cys, XP_016870953.1:p.Ser128Phe, NP_001265724.1:p.Ser128Cys, NP_001265724.1:p.Ser128Phe, NP_001382182.1:p.Ser128Cys, NP_001382182.1:p.Ser128Phe

Select item 141020814118.

rs1410208141 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:47922461 (GRCh38)
10:47087257 (GRCh37)
Canonical SPDI:: NC_000010.11:47922460:G:A
Gene:: ANXA8 (Varview), NPY4R2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_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_000010.11:g.47922461G>A, NW_003871068.1:g.2112357G>A, NW_021160001.1:g.140743G>A, NC_000010.10:g.47087257G>A, XM_006717545.4:c.474G>A, XM_006717545.3:c.474G>A, XM_006717545.2:c.474G>A, XM_006717545.1:c.474G>A, XM_011539115.3:c.474G>A, XM_011539115.2:c.474G>A, XM_011539115.1:c.474G>A, XM_017015464.2:c.474G>A, XM_017015464.1:c.474G>A, NM_001278795.2:c.474G>A, NM_001278795.1:c.474G>A, NM_001395253.1:c.474G>A

Select item 140399668119.

rs1403996681 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:47922634 (GRCh38)
10:47087430 (GRCh37)
Canonical SPDI:: NC_000010.11:47922633:C:A,NC_000010.11:47922633:C:T
Gene:: ANXA8 (Varview), NPY4R2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000008/2 (TOPMED)
T=0.00005/7 (GnomAD)
HGVS:: NC_000010.11:g.47922634C>A, NC_000010.11:g.47922634C>T, NW_003871068.1:g.2112530C>A, NW_003871068.1:g.2112530C>T, NW_021160001.1:g.140916C>A, NW_021160001.1:g.140916C>T, NC_000010.10:g.47087430C>A, NC_000010.10:g.47087430C>T, XM_006717545.4:c.647C>A, XM_006717545.4:c.647C>T, XM_006717545.3:c.647C>A, XM_006717545.3:c.647C>T, XM_006717545.2:c.647C>A, XM_006717545.2:c.647C>T, XM_006717545.1:c.647C>A, XM_006717545.1:c.647C>T, XM_011539115.3:c.647C>A, XM_011539115.3:c.647C>T, XM_011539115.2:c.647C>A, XM_011539115.2:c.647C>T, XM_011539115.1:c.647C>A, XM_011539115.1:c.647C>T, XM_017015464.2:c.647C>A, XM_017015464.2:c.647C>T, XM_017015464.1:c.647C>A, XM_017015464.1:c.647C>T, NM_001278795.2:c.647C>A, NM_001278795.2:c.647C>T, NM_001278795.1:c.647C>A, NM_001278795.1:c.647C>T, NM_001395253.1:c.647C>A, NM_001395253.1:c.647C>T, XP_006717608.1:p.Thr216Asn, XP_006717608.1:p.Thr216Ile, XP_011537417.1:p.Thr216Asn, XP_011537417.1:p.Thr216Ile, XP_016870953.1:p.Thr216Asn, XP_016870953.1:p.Thr216Ile, NP_001265724.1:p.Thr216Asn, NP_001265724.1:p.Thr216Ile, NP_001382182.1:p.Thr216Asn, NP_001382182.1:p.Thr216Ile

Select item 137609254420.

rs1376092544 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:47922487 (GRCh38)
10:47087283 (GRCh37)
Canonical SPDI:: NC_000010.11:47922486:C:T
Gene:: ANXA8 (Varview), NPY4R2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.47922487C>T, NW_003871068.1:g.2112383C>T, NW_021160001.1:g.140769C>T, NC_000010.10:g.47087283C>T, XM_006717545.4:c.500C>T, XM_006717545.3:c.500C>T, XM_006717545.2:c.500C>T, XM_006717545.1:c.500C>T, XM_011539115.3:c.500C>T, XM_011539115.2:c.500C>T, XM_011539115.1:c.500C>T, XM_017015464.2:c.500C>T, XM_017015464.1:c.500C>T, NM_001278795.2:c.500C>T, NM_001278795.1:c.500C>T, NM_001395253.1:c.500C>T, XP_006717608.1:p.Ala167Val, XP_011537417.1:p.Ala167Val, XP_016870953.1:p.Ala167Val, NP_001265724.1:p.Ala167Val, NP_001382182.1:p.Ala167Val

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