SNP Links for Protein (Select 148236531) - SNP

Links from Protein

Items: 1 to 20 of 451

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Select item 14857309931.

rs1485730993 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:27137341 (GRCh38)
2:27360209 (GRCh37)
Canonical SPDI:: NC_000002.12:27137340:G:T
Gene:: PRR30 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.27137341G>T, NC_000002.11:g.27360209G>T, NM_178553.4:c.989C>A, NM_178553.3:c.989C>A, NP_848648.2:p.Ala330Asp

Select item 14854454042.

rs1485445404 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:27137298 (GRCh38)
2:27360166 (GRCh37)
Canonical SPDI:: NC_000002.12:27137297:C:G
Gene:: PRR30 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.27137298C>G, NC_000002.11:g.27360166C>G, NM_178553.4:c.1032G>C, NM_178553.3:c.1032G>C, NP_848648.2:p.Gln344His

Select item 14807985573.

rs1480798557 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:27137550 (GRCh38)
2:27360418 (GRCh37)
Canonical SPDI:: NC_000002.12:27137549:G:A,NC_000002.12:27137549:G:C
Gene:: PRR30 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.27137550G>A, NC_000002.12:g.27137550G>C, NC_000002.11:g.27360418G>A, NC_000002.11:g.27360418G>C, NM_178553.4:c.780C>T, NM_178553.4:c.780C>G, NM_178553.3:c.780C>T, NM_178553.3:c.780C>G, NP_848648.2:p.Ser260Arg

Select item 14744992934.

rs1474499293 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27137825 (GRCh38)
2:27360693 (GRCh37)
Canonical SPDI:: NC_000002.12:27137824:G:A
Gene:: PRR30 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000002.12:g.27137825G>A, NC_000002.11:g.27360693G>A, NM_178553.4:c.505C>T, NM_178553.3:c.505C>T, NP_848648.2:p.Leu169Phe

Select item 14741003895.

rs1474100389 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:27137615 (GRCh38)
2:27360483 (GRCh37)
Canonical SPDI:: NC_000002.12:27137614:C:A,NC_000002.12:27137614:C:T
Gene:: PRR30 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000002.12:g.27137615C>A, NC_000002.12:g.27137615C>T, NC_000002.11:g.27360483C>A, NC_000002.11:g.27360483C>T, NM_178553.4:c.715G>T, NM_178553.4:c.715G>A, NM_178553.3:c.715G>T, NM_178553.3:c.715G>A, NP_848648.2:p.Gly239Cys, NP_848648.2:p.Gly239Ser

Select item 14720507976.

rs1472050797 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27137208 (GRCh38)
2:27360076 (GRCh37)
Canonical SPDI:: NC_000002.12:27137207:G:A
Gene:: PRR30 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27137208G>A, NC_000002.11:g.27360076G>A, NM_178553.4:c.1122C>T, NM_178553.3:c.1122C>T

Select item 14719642837.

rs1471964283 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:27137425 (GRCh38)
2:27360293 (GRCh37)
Canonical SPDI:: NC_000002.12:27137424:A:G
Gene:: PRR30 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.27137425A>G, NC_000002.11:g.27360293A>G, NM_178553.4:c.905T>C, NM_178553.3:c.905T>C, NP_848648.2:p.Leu302Pro

Select item 14698350808.

rs1469835080 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:27137473 (GRCh38)
2:27360341 (GRCh37)
Canonical SPDI:: NC_000002.12:27137472:C:A
Gene:: PRR30 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000002.12:g.27137473C>A, NC_000002.11:g.27360341C>A, NM_178553.4:c.857G>T, NM_178553.3:c.857G>T, NP_848648.2:p.Gly286Val

Select item 14686276659.

rs1468627665 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:27137752 (GRCh38)
2:27360620 (GRCh37)
Canonical SPDI:: NC_000002.12:27137751:T:G
Gene:: PRR30 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27137752T>G, NC_000002.11:g.27360620T>G, NM_178553.4:c.578A>C, NM_178553.3:c.578A>C, NP_848648.2:p.Glu193Ala

Select item 146849335910.

rs1468493359 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27137175 (GRCh38)
2:27360043 (GRCh37)
Canonical SPDI:: NC_000002.12:27137174:G:A
Gene:: PRR30 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27137175G>A, NC_000002.11:g.27360043G>A, NM_178553.4:c.1155C>T, NM_178553.3:c.1155C>T

Select item 146581939711.

rs1465819397 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:27137571 (GRCh38)
2:27360439 (GRCh37)
Canonical SPDI:: NC_000002.12:27137570:C:G
Gene:: PRR30 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000094/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.27137571C>G, NC_000002.11:g.27360439C>G, NM_178553.4:c.759G>C, NM_178553.3:c.759G>C

Select item 146510660712.

rs1465106607 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 2:27137222 (GRCh38)
2:27360090 (GRCh37)
Canonical SPDI:: NC_000002.12:27137220:GAG:G
Gene:: PRR30 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27137222_27137223del, NC_000002.11:g.27360090_27360091del, NM_178553.4:c.1108_1109del, NM_178553.3:c.1108_1109del, NP_848648.2:p.Ser370fs

Select item 146261339213.

rs1462613392 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 2:27137305 (GRCh38)
2:27360173 (GRCh37)
Canonical SPDI:: NC_000002.12:27137304:G:
Gene:: PRR30 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27137305del, NC_000002.11:g.27360173del, NM_178553.4:c.1025del, NM_178553.3:c.1025del, NP_848648.2:p.Ala342fs

Select item 145726601414.

rs1457266014 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27138077 (GRCh38)
2:27360945 (GRCh37)
Canonical SPDI:: NC_000002.12:27138076:G:A
Gene:: PRR30 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27138077G>A, NC_000002.11:g.27360945G>A, NM_178553.4:c.253C>T, NM_178553.3:c.253C>T, NP_848648.2:p.His85Tyr

Select item 145229536315.

rs1452295363 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:27137979 (GRCh38)
2:27360847 (GRCh37)
Canonical SPDI:: NC_000002.12:27137978:C:A
Gene:: PRR30 (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=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.27137979C>A, NC_000002.11:g.27360847C>A, NM_178553.4:c.351G>T, NM_178553.3:c.351G>T, NP_848648.2:p.Trp117Cys

Select item 145174397516.

rs1451743975 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27137949 (GRCh38)
2:27360817 (GRCh37)
Canonical SPDI:: NC_000002.12:27137948:G:A
Gene:: PRR30 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.27137949G>A, NC_000002.11:g.27360817G>A, NM_178553.4:c.381C>T, NM_178553.3:c.381C>T

Select item 144670106617.

rs1446701066 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGGGACTGGGTCGGCC [Show Flanks]
Chromosome:: 2:27137273 (GRCh38)
2:27360142 (GRCh37)
Canonical SPDI:: NC_000002.12:27137273:GCCTGGGACTGGGTCGGCC:GCCTGGGACTGGGTCGGCCTGGGACTGGGTCGGCC
Gene:: PRR30 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCCTGGGACTGGGTCGGCCTGGGACTGGGTCGGCC=0./0 (ALFA)
GCCTGGGACTGGGTCG=0.000004/1 (TOPMED)
GCCTGGGACTGGGTCG=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27137277_27137292dup, NC_000002.11:g.27360145_27360160dup, NM_178553.4:c.1041_1056dup, NM_178553.3:c.1041_1056dup, NP_848648.2:p.Thr353fs

Select item 144620449518.

rs1446204495 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:27137114 (GRCh38)
2:27359982 (GRCh37)
Canonical SPDI:: NC_000002.12:27137113:T:C
Gene:: PRR30 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27137114T>C, NC_000002.11:g.27359982T>C, NM_178553.4:c.1216A>G, NM_178553.3:c.1216A>G, NP_848648.2:p.Ile406Val

Select item 144567344019.

rs1445673440 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:27138155 (GRCh38)
2:27361023 (GRCh37)
Canonical SPDI:: NC_000002.12:27138154:G:A,NC_000002.12:27138154:G:C
Gene:: PRR30 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27138155G>A, NC_000002.12:g.27138155G>C, NC_000002.11:g.27361023G>A, NC_000002.11:g.27361023G>C, NM_178553.4:c.175C>T, NM_178553.4:c.175C>G, NM_178553.3:c.175C>T, NM_178553.3:c.175C>G, NP_848648.2:p.Pro59Ser, NP_848648.2:p.Pro59Ala

Select item 144356174020.

rs1443561740 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27137682 (GRCh38)
2:27360550 (GRCh37)
Canonical SPDI:: NC_000002.12:27137681:C:T
Gene:: PRR30 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.27137682C>T, NC_000002.11:g.27360550C>T, NM_178553.4:c.648G>A, NM_178553.3:c.648G>A

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