SNP Links for Protein (Select 27735067) - SNP

Links from Protein

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Select item 14887673921.

rs1488767392 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:757118 (GRCh38)
19:757118 (GRCh37)
Canonical SPDI:: NC_000019.10:757117:C:T
Gene:: MISP (Varview)
Functional Consequence:: stop_gained,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.757118C>T, NC_000019.9:g.757118C>T, NM_173481.4:c.172C>T, NM_173481.3:c.172C>T, NM_173481.2:c.172C>T, XM_011527686.3:c.172C>T, XM_011527686.2:c.172C>T, XM_011527686.1:c.172C>T, XM_011527685.3:c.172C>T, XM_011527685.2:c.172C>T, XM_011527685.1:c.172C>T, NP_775752.1:p.Gln58Ter, XP_011525988.1:p.Gln58Ter, XP_011525987.1:p.Gln58Ter

Select item 14872994132.

rs1487299413 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:757361 (GRCh38)
19:757361 (GRCh37)
Canonical SPDI:: NC_000019.10:757360:C:A
Gene:: MISP (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.757361C>A, NC_000019.9:g.757361C>A, NM_173481.4:c.415C>A, NM_173481.3:c.415C>A, NM_173481.2:c.415C>A, XM_011527686.3:c.415C>A, XM_011527686.2:c.415C>A, XM_011527686.1:c.415C>A, XM_011527685.3:c.415C>A, XM_011527685.2:c.415C>A, XM_011527685.1:c.415C>A, NP_775752.1:p.Leu139Met, XP_011525988.1:p.Leu139Met, XP_011525987.1:p.Leu139Met

Select item 14868168473.

rs1486816847 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:763515 (GRCh38)
19:763515 (GRCh37)
Canonical SPDI:: NC_000019.10:763514:A:G
Gene:: MISP (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.763515A>G, NC_000019.9:g.763515A>G, NM_173481.4:c.1965A>G, NM_173481.3:c.1965A>G, NM_173481.2:c.1965A>G, XM_011527686.3:c.1965A>G, XM_011527686.2:c.1965A>G, XM_011527686.1:c.1965A>G, XM_011527685.3:c.1965A>G, XM_011527685.2:c.1965A>G, XM_011527685.1:c.1965A>G, NR_135168.2:n.245A>G, NR_135168.1:n.244A>G, NP_775752.1:p.Ile655Met, XP_011525988.1:p.Ile655Met, XP_011525987.1:p.Ile655Met

Select item 14858311694.

rs1485831169 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:760027 (GRCh38)
19:760027 (GRCh37)
Canonical SPDI:: NC_000019.10:760026:G:A
Gene:: MISP (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.760027G>A, NC_000019.9:g.760027G>A, NM_173481.4:c.1899G>A, NM_173481.3:c.1899G>A, NM_173481.2:c.1899G>A, XM_011527686.3:c.1899G>A, XM_011527686.2:c.1899G>A, XM_011527686.1:c.1899G>A, XM_011527685.3:c.1899G>A, XM_011527685.2:c.1899G>A, XM_011527685.1:c.1899G>A, NR_135168.2:n.179G>A, NR_135168.1:n.178G>A

Select item 14831676495.

rs1483167649 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:758516 (GRCh38)
19:758516 (GRCh37)
Canonical SPDI:: NC_000019.10:758515:C:T
Gene:: MISP (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.758516C>T, NC_000019.9:g.758516C>T, NM_173481.4:c.1570C>T, NM_173481.3:c.1570C>T, NM_173481.2:c.1570C>T, XM_011527686.3:c.1570C>T, XM_011527686.2:c.1570C>T, XM_011527686.1:c.1570C>T, XM_011527685.3:c.1570C>T, XM_011527685.2:c.1570C>T, XM_011527685.1:c.1570C>T, NP_775752.1:p.His524Tyr, XP_011525988.1:p.His524Tyr, XP_011525987.1:p.His524Tyr

Select item 14827624866.

rs1482762486 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:757685 (GRCh38)
19:757685 (GRCh37)
Canonical SPDI:: NC_000019.10:757684:A:G
Gene:: MISP (Varview)
Functional Consequence:: missense_variant,intron_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 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.757685A>G, NC_000019.9:g.757685A>G, NM_173481.4:c.739A>G, NM_173481.3:c.739A>G, NM_173481.2:c.739A>G, XM_011527686.3:c.739A>G, XM_011527686.2:c.739A>G, XM_011527686.1:c.739A>G, XM_011527685.3:c.739A>G, XM_011527685.2:c.739A>G, XM_011527685.1:c.739A>G, NP_775752.1:p.Ile247Val, XP_011525988.1:p.Ile247Val, XP_011525987.1:p.Ile247Val

Select item 14817826037.

rs1481782603 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:757495 (GRCh38)
19:757495 (GRCh37)
Canonical SPDI:: NC_000019.10:757494:G:A
Gene:: MISP (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.757495G>A, NC_000019.9:g.757495G>A, NM_173481.4:c.549G>A, NM_173481.3:c.549G>A, NM_173481.2:c.549G>A, XM_011527686.3:c.549G>A, XM_011527686.2:c.549G>A, XM_011527686.1:c.549G>A, XM_011527685.3:c.549G>A, XM_011527685.2:c.549G>A, XM_011527685.1:c.549G>A

Select item 14814432058.

rs1481443205 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:757817 (GRCh38)
19:757817 (GRCh37)
Canonical SPDI:: NC_000019.10:757816:A:G
Gene:: MISP (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.757817A>G, NC_000019.9:g.757817A>G, NM_173481.4:c.871A>G, NM_173481.3:c.871A>G, NM_173481.2:c.871A>G, XM_011527686.3:c.871A>G, XM_011527686.2:c.871A>G, XM_011527686.1:c.871A>G, XM_011527685.3:c.871A>G, XM_011527685.2:c.871A>G, XM_011527685.1:c.871A>G, NP_775752.1:p.Thr291Ala, XP_011525988.1:p.Thr291Ala, XP_011525987.1:p.Thr291Ala

Select item 14813184969.

rs1481318496 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:757962 (GRCh38)
19:757962 (GRCh37)
Canonical SPDI:: NC_000019.10:757961:C:A,NC_000019.10:757961:C:T
Gene:: MISP (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.757962C>A, NC_000019.10:g.757962C>T, NC_000019.9:g.757962C>A, NC_000019.9:g.757962C>T, NM_173481.4:c.1016C>A, NM_173481.4:c.1016C>T, NM_173481.3:c.1016C>A, NM_173481.3:c.1016C>T, NM_173481.2:c.1016C>A, NM_173481.2:c.1016C>T, XM_011527686.3:c.1016C>A, XM_011527686.3:c.1016C>T, XM_011527686.2:c.1016C>A, XM_011527686.2:c.1016C>T, XM_011527686.1:c.1016C>A, XM_011527686.1:c.1016C>T, XM_011527685.3:c.1016C>A, XM_011527685.3:c.1016C>T, XM_011527685.2:c.1016C>A, XM_011527685.2:c.1016C>T, XM_011527685.1:c.1016C>A, XM_011527685.1:c.1016C>T, NP_775752.1:p.Ala339Asp, NP_775752.1:p.Ala339Val, XP_011525988.1:p.Ala339Asp, XP_011525988.1:p.Ala339Val, XP_011525987.1:p.Ala339Asp, XP_011525987.1:p.Ala339Val

Select item 148091432910.

rs1480914329 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 19:757236 (GRCh38)
19:757236 (GRCh37)
Canonical SPDI:: NC_000019.10:757235:T:A,NC_000019.10:757235:T:C
Gene:: MISP (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.757236T>A, NC_000019.10:g.757236T>C, NC_000019.9:g.757236T>A, NC_000019.9:g.757236T>C, NM_173481.4:c.290T>A, NM_173481.4:c.290T>C, NM_173481.3:c.290T>A, NM_173481.3:c.290T>C, NM_173481.2:c.290T>A, NM_173481.2:c.290T>C, XM_011527686.3:c.290T>A, XM_011527686.3:c.290T>C, XM_011527686.2:c.290T>A, XM_011527686.2:c.290T>C, XM_011527686.1:c.290T>A, XM_011527686.1:c.290T>C, XM_011527685.3:c.290T>A, XM_011527685.3:c.290T>C, XM_011527685.2:c.290T>A, XM_011527685.2:c.290T>C, XM_011527685.1:c.290T>A, XM_011527685.1:c.290T>C, NP_775752.1:p.Leu97Gln, NP_775752.1:p.Leu97Pro, XP_011525988.1:p.Leu97Gln, XP_011525988.1:p.Leu97Pro, XP_011525987.1:p.Leu97Gln, XP_011525987.1:p.Leu97Pro

Select item 148052543311.

rs1480525433 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:758710 (GRCh38)
19:758710 (GRCh37)
Canonical SPDI:: NC_000019.10:758709:C:T
Gene:: MISP (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.758710C>T, NC_000019.9:g.758710C>T, NM_173481.4:c.1764C>T, NM_173481.3:c.1764C>T, NM_173481.2:c.1764C>T, XM_011527686.3:c.1764C>T, XM_011527686.2:c.1764C>T, XM_011527686.1:c.1764C>T, XM_011527685.3:c.1764C>T, XM_011527685.2:c.1764C>T, XM_011527685.1:c.1764C>T

Select item 147982276012.

rs1479822760 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:757022 (GRCh38)
19:757022 (GRCh37)
Canonical SPDI:: NC_000019.10:757021:G:C
Gene:: MISP (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.757022G>C, NC_000019.9:g.757022G>C, NM_173481.4:c.76G>C, NM_173481.3:c.76G>C, NM_173481.2:c.76G>C, XM_011527686.3:c.76G>C, XM_011527686.2:c.76G>C, XM_011527686.1:c.76G>C, XM_011527685.3:c.76G>C, XM_011527685.2:c.76G>C, XM_011527685.1:c.76G>C, NP_775752.1:p.Asp26His, XP_011525988.1:p.Asp26His, XP_011525987.1:p.Asp26His

Select item 147754141813.

rs1477541418 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:758000 (GRCh38)
19:758000 (GRCh37)
Canonical SPDI:: NC_000019.10:757999:C:A
Gene:: MISP (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000009/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.758000C>A, NC_000019.9:g.758000C>A, NM_173481.4:c.1054C>A, NM_173481.3:c.1054C>A, NM_173481.2:c.1054C>A, XM_011527686.3:c.1054C>A, XM_011527686.2:c.1054C>A, XM_011527686.1:c.1054C>A, XM_011527685.3:c.1054C>A, XM_011527685.2:c.1054C>A, XM_011527685.1:c.1054C>A, NP_775752.1:p.Gln352Lys, XP_011525988.1:p.Gln352Lys, XP_011525987.1:p.Gln352Lys

Select item 147734494214.

rs1477344942 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:758101 (GRCh38)
19:758101 (GRCh37)
Canonical SPDI:: NC_000019.10:758100:C:T
Gene:: MISP (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.758101C>T, NC_000019.9:g.758101C>T, NM_173481.4:c.1155C>T, NM_173481.3:c.1155C>T, NM_173481.2:c.1155C>T, XM_011527686.3:c.1155C>T, XM_011527686.2:c.1155C>T, XM_011527686.1:c.1155C>T, XM_011527685.3:c.1155C>T, XM_011527685.2:c.1155C>T, XM_011527685.1:c.1155C>T

Select item 147562173415.

rs1475621734 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:757029 (GRCh38)
19:757029 (GRCh37)
Canonical SPDI:: NC_000019.10:757028:G:A
Gene:: MISP (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.757029G>A, NC_000019.9:g.757029G>A, NM_173481.4:c.83G>A, NM_173481.3:c.83G>A, NM_173481.2:c.83G>A, XM_011527686.3:c.83G>A, XM_011527686.2:c.83G>A, XM_011527686.1:c.83G>A, XM_011527685.3:c.83G>A, XM_011527685.2:c.83G>A, XM_011527685.1:c.83G>A, NP_775752.1:p.Ser28Asn, XP_011525988.1:p.Ser28Asn, XP_011525987.1:p.Ser28Asn

Select item 147561209516.

rs1475612095 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:757555 (GRCh38)
19:757555 (GRCh37)
Canonical SPDI:: NC_000019.10:757554:G:A
Gene:: MISP (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.757555G>A, NC_000019.9:g.757555G>A, NM_173481.4:c.609G>A, NM_173481.3:c.609G>A, NM_173481.2:c.609G>A, XM_011527686.3:c.609G>A, XM_011527686.2:c.609G>A, XM_011527686.1:c.609G>A, XM_011527685.3:c.609G>A, XM_011527685.2:c.609G>A, XM_011527685.1:c.609G>A

Select item 147391695917.

rs1473916959 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:757595 (GRCh38)
19:757595 (GRCh37)
Canonical SPDI:: NC_000019.10:757594:A:T
Gene:: MISP (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.757595A>T, NC_000019.9:g.757595A>T, NM_173481.4:c.649A>T, NM_173481.3:c.649A>T, NM_173481.2:c.649A>T, XM_011527686.3:c.649A>T, XM_011527686.2:c.649A>T, XM_011527686.1:c.649A>T, XM_011527685.3:c.649A>T, XM_011527685.2:c.649A>T, XM_011527685.1:c.649A>T, NP_775752.1:p.Arg217Trp, XP_011525988.1:p.Arg217Trp, XP_011525987.1:p.Arg217Trp

Select item 147292662218.

rs1472926622 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:757627 (GRCh38)
19:757627 (GRCh37)
Canonical SPDI:: NC_000019.10:757626:C:G,NC_000019.10:757626:C:T
Gene:: MISP (Varview)
Functional Consequence:: synonymous_variant,intron_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_000019.10:g.757627C>G, NC_000019.10:g.757627C>T, NC_000019.9:g.757627C>G, NC_000019.9:g.757627C>T, NM_173481.4:c.681C>G, NM_173481.4:c.681C>T, NM_173481.3:c.681C>G, NM_173481.3:c.681C>T, NM_173481.2:c.681C>G, NM_173481.2:c.681C>T, XM_011527686.3:c.681C>G, XM_011527686.3:c.681C>T, XM_011527686.2:c.681C>G, XM_011527686.2:c.681C>T, XM_011527686.1:c.681C>G, XM_011527686.1:c.681C>T, XM_011527685.3:c.681C>G, XM_011527685.3:c.681C>T, XM_011527685.2:c.681C>G, XM_011527685.2:c.681C>T, XM_011527685.1:c.681C>G, XM_011527685.1:c.681C>T

Select item 147286071419.

rs1472860714 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:757899 (GRCh38)
19:757899 (GRCh37)
Canonical SPDI:: NC_000019.10:757898:A:G
Gene:: MISP (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.757899A>G, NC_000019.9:g.757899A>G, NM_173481.4:c.953A>G, NM_173481.3:c.953A>G, NM_173481.2:c.953A>G, XM_011527686.3:c.953A>G, XM_011527686.2:c.953A>G, XM_011527686.1:c.953A>G, XM_011527685.3:c.953A>G, XM_011527685.2:c.953A>G, XM_011527685.1:c.953A>G, NP_775752.1:p.Asp318Gly, XP_011525988.1:p.Asp318Gly, XP_011525987.1:p.Asp318Gly

Select item 147241268020.

rs1472412680 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:757645 (GRCh38)
19:757645 (GRCh37)
Canonical SPDI:: NC_000019.10:757644:C:G,NC_000019.10:757644:C:T
Gene:: MISP (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.002/1 (NorthernSweden)
HGVS:: NC_000019.10:g.757645C>G, NC_000019.10:g.757645C>T, NC_000019.9:g.757645C>G, NC_000019.9:g.757645C>T, NM_173481.4:c.699C>G, NM_173481.4:c.699C>T, NM_173481.3:c.699C>G, NM_173481.3:c.699C>T, NM_173481.2:c.699C>G, NM_173481.2:c.699C>T, XM_011527686.3:c.699C>G, XM_011527686.3:c.699C>T, XM_011527686.2:c.699C>G, XM_011527686.2:c.699C>T, XM_011527686.1:c.699C>G, XM_011527686.1:c.699C>T, XM_011527685.3:c.699C>G, XM_011527685.3:c.699C>T, XM_011527685.2:c.699C>G, XM_011527685.2:c.699C>T, XM_011527685.1:c.699C>G, XM_011527685.1:c.699C>T

dbSNP

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