SNP Links for Protein (Select 5454122) - SNP

Links from Protein

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Select item 14882164571.

rs1488216457 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 10:45972696 (GRCh38)
10:51623143 (GRCh37)
Canonical SPDI:: NC_000010.11:45972695:A:C,NC_000010.11:45972695:A:G
Gene:: PARGP1 (Varview), TIMM23 (Varview), PARGP1-AGAP4 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
G=0.000019/3 (GnomAD_exomes)
C=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.45972696A>C, NC_000010.11:g.45972696A>G, NW_003871068.1:g.243811A>C, NW_003871068.1:g.243811A>G, NG_032850.2:g.5244A>C, NG_032850.2:g.5244A>G, NM_006327.4:c.72A>C, NM_006327.4:c.72A>G, NM_006327.3:c.72A>C, NM_006327.3:c.72A>G, NR_073029.2:n.208A>C, NR_073029.2:n.208A>G, NR_073029.1:n.244A>C, NR_073029.1:n.244A>G, NR_073030.2:n.208A>C, NR_073030.2:n.208A>G, NR_073030.1:n.244A>C, NR_073030.1:n.244A>G, NC_000010.10:g.51623143T>G, NC_000010.10:g.51623143T>C

Select item 14828879932.

rs1482887993 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:45975467 (GRCh38)
10:51620369 (GRCh37)
Canonical SPDI:: NC_000010.11:45975466:C:T
Gene:: TIMM23 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.45975467C>T, NW_003871068.1:g.246582C>T, NG_032850.2:g.8015C>T, NM_006327.4:c.120C>T, NM_006327.3:c.120C>T, NR_073029.2:n.256C>T, NR_073029.1:n.292C>T, NC_000010.10:g.51620369G>A

Select item 14802572113.

rs1480257211 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:45988750 (GRCh38)
10:51607085 (GRCh37)
Canonical SPDI:: NC_000010.11:45988749:T:C
Gene:: TIMM23 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00121/17 (ALFA)
A=0./0 (SGDP_PRJ)
C=0.000991/139 (GnomAD)
C=0.001249/8 (1000Genomes)
C=0.001802/477 (TOPMED)
HGVS:: NC_000010.11:g.45988750T>C, NW_003871068.1:g.259865T>C, NG_032850.2:g.21298T>C, NM_006327.4:c.417T>C, NM_006327.3:c.417T>C, NR_073029.2:n.553T>C, NR_073029.1:n.589T>C, NR_073030.2:n.494T>C, NR_073030.1:n.530T>C, NC_000010.10:g.51607085A>G

Select item 14765091584.

rs1476509158 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:45985436 (GRCh38)
10:51610398 (GRCh37)
Canonical SPDI:: NC_000010.11:45985435:C:A
Gene:: TIMM23 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.45985436C>A, NW_003871068.1:g.256551C>A, NG_032850.2:g.17984C>A, NM_006327.4:c.398C>A, NM_006327.3:c.398C>A, NR_073029.2:n.534C>A, NR_073029.1:n.570C>A, NR_073030.2:n.475C>A, NR_073030.1:n.511C>A, NC_000010.10:g.51610398G>T, NP_006318.1:p.Ser133Tyr

Select item 14763116235.

rs1476311623 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 10:45988821 (GRCh38)
10:51607014 (GRCh37)
Canonical SPDI:: NC_000010.11:45988820:T:A,NC_000010.11:45988820:T:C,NC_000010.11:45988820:T:G
Gene:: TIMM23 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.45988821T>A, NC_000010.11:g.45988821T>C, NC_000010.11:g.45988821T>G, NW_003871068.1:g.259936T>A, NW_003871068.1:g.259936T>C, NW_003871068.1:g.259936T>G, NG_032850.2:g.21369T>A, NG_032850.2:g.21369T>C, NG_032850.2:g.21369T>G, NM_006327.4:c.488T>A, NM_006327.4:c.488T>C, NM_006327.4:c.488T>G, NM_006327.3:c.488T>A, NM_006327.3:c.488T>C, NM_006327.3:c.488T>G, NR_073029.2:n.624T>A, NR_073029.2:n.624T>C, NR_073029.2:n.624T>G, NR_073029.1:n.660T>A, NR_073029.1:n.660T>C, NR_073029.1:n.660T>G, NR_073030.2:n.565T>A, NR_073030.2:n.565T>C, NR_073030.2:n.565T>G, NR_073030.1:n.601T>A, NR_073030.1:n.601T>C, NR_073030.1:n.601T>G, NC_000010.10:g.51607014A>T, NC_000010.10:g.51607014A>G, NC_000010.10:g.51607014A>C, NP_006318.1:p.Met163Lys, NP_006318.1:p.Met163Thr, NP_006318.1:p.Met163Arg

Select item 14631407486.

rs1463140748 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:45988842 (GRCh38)
10:51606993 (GRCh37)
Canonical SPDI:: NC_000010.11:45988841:G:A
Gene:: TIMM23 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.45988842G>A, NW_003871068.1:g.259957G>A, NG_032850.2:g.21390G>A, NM_006327.4:c.509G>A, NM_006327.3:c.509G>A, NR_073029.2:n.645G>A, NR_073029.1:n.681G>A, NR_073030.2:n.586G>A, NR_073030.1:n.622G>A, NC_000010.10:g.51606993C>T, NP_006318.1:p.Cys170Tyr

Select item 14628383347.

rs1462838334 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:45985413 (GRCh38)
10:51610421 (GRCh37)
Canonical SPDI:: NC_000010.11:45985412:A:G
Gene:: TIMM23 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00015/21 (GnomAD)
G=0.000159/42 (TOPMED)
G=0.000625/4 (1000Genomes)
HGVS:: NC_000010.11:g.45985413A>G, NW_003871068.1:g.256528A>G, NG_032850.2:g.17961A>G, NM_006327.4:c.375A>G, NM_006327.3:c.375A>G, NR_073029.2:n.511A>G, NR_073029.1:n.547A>G, NR_073030.2:n.452A>G, NR_073030.1:n.488A>G, NC_000010.10:g.51610421T>C

Select item 14566632008.

rs1456663200 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:45982594 (GRCh38)
10:51613240 (GRCh37)
Canonical SPDI:: NC_000010.11:45982593:G:A,NC_000010.11:45982593:G:C
Gene:: TIMM23 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.00004/1 (TOMMO)
A=0.00016/1 (1000Genomes)
HGVS:: NC_000010.11:g.45982594G>A, NC_000010.11:g.45982594G>C, NW_003871068.1:g.253709G>A, NW_003871068.1:g.253709G>C, NG_032850.2:g.15142G>A, NG_032850.2:g.15142G>C, NM_006327.4:c.237G>A, NM_006327.4:c.237G>C, NM_006327.3:c.237G>A, NM_006327.3:c.237G>C, NR_073029.2:n.373G>A, NR_073029.2:n.373G>C, NR_073029.1:n.409G>A, NR_073029.1:n.409G>C, NR_073030.2:n.314G>A, NR_073030.2:n.314G>C, NR_073030.1:n.350G>A, NR_073030.1:n.350G>C, NC_000010.10:g.51613240C>T, NC_000010.10:g.51613240C>G

Select item 14557094709.

rs1455709470 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:45988744 (GRCh38)
10:51607091 (GRCh37)
Canonical SPDI:: NC_000010.11:45988743:C:G
Gene:: TIMM23 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.45988744C>G, NW_003871068.1:g.259859C>G, NG_032850.2:g.21292C>G, NM_006327.4:c.411C>G, NM_006327.3:c.411C>G, NR_073029.2:n.547C>G, NR_073029.1:n.583C>G, NR_073030.2:n.488C>G, NR_073030.1:n.524C>G, NC_000010.10:g.51607091G>C

Select item 144927620210.

rs1449276202 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:45982895 (GRCh38)
10:51612939 (GRCh37)
Canonical SPDI:: NC_000010.11:45982894:C:G,NC_000010.11:45982894:C:T
Gene:: TIMM23 (Varview), SNORA74C-1 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.001002/14 (ALFA)
C=0./0 (SGDP_PRJ)
G=0.004597/644 (GnomAD)
C=0.004677/59 (TOMMO)
G=0.005875/1555 (TOPMED)
G=0.005911/12 (KOREAN)
G=0.009825/18 (Korea1K)
G=0.011087/71 (1000Genomes)
HGVS:: NC_000010.11:g.45982895C>G, NC_000010.11:g.45982895C>T, NW_003871068.1:g.254010C>G, NW_003871068.1:g.254010C>T, NG_032850.2:g.15443C>G, NG_032850.2:g.15443C>T, NM_006327.4:c.309C>G, NM_006327.4:c.309C>T, NM_006327.3:c.309C>G, NM_006327.3:c.309C>T, NR_073029.2:n.445C>G, NR_073029.2:n.445C>T, NR_073029.1:n.481C>G, NR_073029.1:n.481C>T, NR_073030.2:n.386C>G, NR_073030.2:n.386C>T, NR_073030.1:n.422C>G, NR_073030.1:n.422C>T, NC_000010.10:g.51612939G>C, NC_000010.10:g.51612939G>A

Select item 144787722711.

rs1447877227 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:45982925 (GRCh38)
10:51612909 (GRCh37)
Canonical SPDI:: NC_000010.11:45982924:T:C
Gene:: TIMM23 (Varview), SNORA74C-1 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.45982925T>C, NW_003871068.1:g.254040T>C, NG_032850.2:g.15473T>C, NM_006327.4:c.339T>C, NM_006327.3:c.339T>C, NR_073029.2:n.475T>C, NR_073029.1:n.511T>C, NR_073030.2:n.416T>C, NR_073030.1:n.452T>C, NC_000010.10:g.51612909A>G

Select item 144291514512.

rs1442915145 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:45982847 (GRCh38)
10:51612987 (GRCh37)
Canonical SPDI:: NC_000010.11:45982846:G:A
Gene:: TIMM23 (Varview), SNORA74C-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.003132/44 (ALFA)
A=0.003405/477 (GnomAD)
A=0.003861/1022 (TOPMED)
A=0.005934/38 (1000Genomes)
HGVS:: NC_000010.11:g.45982847G>A, NW_003871068.1:g.253962G>A, NG_032850.2:g.15395G>A, NM_006327.4:c.261G>A, NM_006327.3:c.261G>A, NR_073029.2:n.397G>A, NR_073029.1:n.433G>A, NR_073030.2:n.338G>A, NR_073030.1:n.374G>A, NC_000010.10:g.51612987C>T

Select item 143164988113.

rs1431649881 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:45982902 (GRCh38)
10:51612932 (GRCh37)
Canonical SPDI:: NC_000010.11:45982901:A:G
Gene:: TIMM23 (Varview), SNORA74C-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.45982902A>G, NW_003871068.1:g.254017A>G, NG_032850.2:g.15450A>G, NM_006327.4:c.316A>G, NM_006327.3:c.316A>G, NR_073029.2:n.452A>G, NR_073029.1:n.488A>G, NR_073030.2:n.393A>G, NR_073030.1:n.429A>G, NC_000010.10:g.51612932T>C, NP_006318.1:p.Met106Val

Select item 142416303114.

rs1424163031 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:45988767 (GRCh38)
10:51607068 (GRCh37)
Canonical SPDI:: NC_000010.11:45988766:T:C
Gene:: TIMM23 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000078/11 (GnomAD)
C=0.000083/22 (TOPMED)
HGVS:: NC_000010.11:g.45988767T>C, NW_003871068.1:g.259882T>C, NG_032850.2:g.21315T>C, NM_006327.4:c.434T>C, NM_006327.3:c.434T>C, NR_073029.2:n.570T>C, NR_073029.1:n.606T>C, NR_073030.2:n.511T>C, NR_073030.1:n.547T>C, NC_000010.10:g.51607068A>G, NP_006318.1:p.Ile145Thr

Select item 142142237015.

rs1421422370 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:45972673 (GRCh38)
10:51623166 (GRCh37)
Canonical SPDI:: NC_000010.11:45972672:G:T
Gene:: PARGP1 (Varview), TIMM23 (Varview), PARGP1-AGAP4 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.45972673G>T, NW_003871068.1:g.243788G>T, NG_032850.2:g.5221G>T, NM_006327.4:c.49G>T, NM_006327.3:c.49G>T, NR_073029.2:n.185G>T, NR_073029.1:n.221G>T, NR_073030.2:n.185G>T, NR_073030.1:n.221G>T, NC_000010.10:g.51623166C>A, NP_006318.1:p.Gly17Cys

Select item 141762133516.

rs1417621335 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:45972683 (GRCh38)
10:51623156 (GRCh37)
Canonical SPDI:: NC_000010.11:45972682:G:T
Gene:: PARGP1 (Varview), TIMM23 (Varview), PARGP1-AGAP4 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.45972683G>T, NW_003871068.1:g.243798G>T, NG_032850.2:g.5231G>T, NM_006327.4:c.59G>T, NM_006327.3:c.59G>T, NR_073029.2:n.195G>T, NR_073029.1:n.231G>T, NR_073030.2:n.195G>T, NR_073030.1:n.231G>T, NC_000010.10:g.51623156C>A, NP_006318.1:p.Gly20Val

Select item 141036320517.

rs1410363205 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:45982550 (GRCh38)
10:51613284 (GRCh37)
Canonical SPDI:: NC_000010.11:45982549:G:A
Gene:: TIMM23 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.45982550G>A, NW_003871068.1:g.253665G>A, NG_032850.2:g.15098G>A, NM_006327.4:c.193G>A, NM_006327.3:c.193G>A, NR_073029.2:n.329G>A, NR_073029.1:n.365G>A, NR_073030.2:n.270G>A, NR_073030.1:n.306G>A, NC_000010.10:g.51613284C>T, NP_006318.1:p.Gly65Arg

Select item 140846531518.

rs1408465315 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:45988746 (GRCh38)
10:51607089 (GRCh37)
Canonical SPDI:: NC_000010.11:45988745:A:G
Gene:: TIMM23 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000049/13 (TOPMED)
C=0.000085/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.45988746A>G, NW_003871068.1:g.259861A>G, NG_032850.2:g.21294A>G, NM_006327.4:c.413A>G, NM_006327.3:c.413A>G, NR_073029.2:n.549A>G, NR_073029.1:n.585A>G, NR_073030.2:n.490A>G, NR_073030.1:n.526A>G, NC_000010.10:g.51607089T>C, NP_006318.1:p.Tyr138Cys

Select item 140664759819.

rs1406647598 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:45982566 (GRCh38)
10:51613268 (GRCh37)
Canonical SPDI:: NC_000010.11:45982565:G:A
Gene:: TIMM23 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.45982566G>A, NW_003871068.1:g.253681G>A, NG_032850.2:g.15114G>A, NM_006327.4:c.209G>A, NM_006327.3:c.209G>A, NR_073029.2:n.345G>A, NR_073029.1:n.381G>A, NR_073030.2:n.286G>A, NR_073030.1:n.322G>A, NC_000010.10:g.51613268C>T, NP_006318.1:p.Arg70Gln

Select item 140013869420.

rs1400138694 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:45985429 (GRCh38)
10:51610405 (GRCh37)
Canonical SPDI:: NC_000010.11:45985428:C:G,NC_000010.11:45985428:C:T
Gene:: TIMM23 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.45985429C>G, NC_000010.11:g.45985429C>T, NW_003871068.1:g.256544C>G, NW_003871068.1:g.256544C>T, NG_032850.2:g.17977C>G, NG_032850.2:g.17977C>T, NM_006327.4:c.391C>G, NM_006327.4:c.391C>T, NM_006327.3:c.391C>G, NM_006327.3:c.391C>T, NR_073029.2:n.527C>G, NR_073029.2:n.527C>T, NR_073029.1:n.563C>G, NR_073029.1:n.563C>T, NR_073030.2:n.468C>G, NR_073030.2:n.468C>T, NR_073030.1:n.504C>G, NR_073030.1:n.504C>T, NC_000010.10:g.51610405G>C, NC_000010.10:g.51610405G>A, NP_006318.1:p.Leu131Val

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