SNP Links for Protein (Select 1239413845) - SNP

Links from Protein

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Select item 14871355531.

rs1487135553 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:130079897 (GRCh38)
10:131878161 (GRCh37)
Canonical SPDI:: NC_000010.11:130079896:C:A,NC_000010.11:130079896:C:T
Gene:: C10orf143 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000053/14 (TOPMED)
T=0.000546/1 (Korea1K)
HGVS:: NC_000010.11:g.130079897C>A, NC_000010.11:g.130079897C>T, NC_000010.10:g.131878161C>A, NC_000010.10:g.131878161C>T, NR_034125.2:n.398G>T, NR_034125.2:n.398G>A, NR_034125.1:n.385G>T, NR_034125.1:n.385G>A, XM_024448008.2:c.233G>T, XM_024448008.2:c.233G>A, XM_024448008.1:c.233G>T, XM_024448008.1:c.233G>A, NR_149170.2:n.132G>T, NR_149170.2:n.132G>A, NR_149170.1:n.123G>T, NR_149170.1:n.123G>A, NM_001355042.2:c.74G>T, NM_001355042.2:c.74G>A, NM_001355042.1:c.74G>T, NM_001355042.1:c.74G>A, XM_024448007.2:c.233G>T, XM_024448007.2:c.233G>A, XM_024448007.1:c.233G>T, XM_024448007.1:c.233G>A, XM_024448009.2:c.74G>T, XM_024448009.2:c.74G>A, XM_024448009.1:c.74G>T, XM_024448009.1:c.74G>A, XP_024303776.1:p.Arg78Leu, XP_024303776.1:p.Arg78Gln, NP_001341971.1:p.Arg25Leu, NP_001341971.1:p.Arg25Gln, XP_024303775.1:p.Arg78Leu, XP_024303775.1:p.Arg78Gln, XP_024303777.1:p.Arg25Leu, XP_024303777.1:p.Arg25Gln

Select item 14782971842.

rs1478297184 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:130110769 (GRCh38)
10:131909033 (GRCh37)
Canonical SPDI:: NC_000010.11:130110768:C:A,NC_000010.11:130110768:C:T
Gene:: C10orf143 (Varview), LOC102724883 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.00007/1 (TOMMO)
HGVS:: NC_000010.11:g.130110769C>A, NC_000010.11:g.130110769C>T, NC_000010.10:g.131909033C>A, NC_000010.10:g.131909033C>T, NR_034125.2:n.62G>T, NR_034125.2:n.62G>A, NR_034125.1:n.49G>T, NR_034125.1:n.49G>A, XM_024448008.2:c.4G>T, XM_024448008.2:c.4G>A, XM_024448008.1:c.4G>T, XM_024448008.1:c.4G>A, NR_149170.2:n.62G>T, NR_149170.2:n.62G>A, NR_149170.1:n.53G>T, NR_149170.1:n.53G>A, NM_001355042.2:c.4G>T, NM_001355042.2:c.4G>A, NM_001355042.1:c.4G>T, NM_001355042.1:c.4G>A, XM_024448007.2:c.4G>T, XM_024448007.2:c.4G>A, XM_024448007.1:c.4G>T, XM_024448007.1:c.4G>A, XM_024448009.2:c.4G>T, XM_024448009.2:c.4G>A, XM_024448009.1:c.4G>T, XM_024448009.1:c.4G>A, XP_024303776.1:p.Asp2Tyr, XP_024303776.1:p.Asp2Asn, NP_001341971.1:p.Asp2Tyr, NP_001341971.1:p.Asp2Asn, XP_024303775.1:p.Asp2Tyr, XP_024303775.1:p.Asp2Asn, XP_024303777.1:p.Asp2Tyr, XP_024303777.1:p.Asp2Asn

Select item 14744360133.

rs1474436013 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:130110721 (GRCh38)
10:131908985 (GRCh37)
Canonical SPDI:: NC_000010.11:130110720:G:A
Gene:: C10orf143 (Varview), LOC102724883 (Varview)
Functional Consequence:: 2KB_upstream_variant,stop_gained,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.130110721G>A, NC_000010.10:g.131908985G>A, NR_034125.2:n.110C>T, NR_034125.1:n.97C>T, XM_024448008.2:c.52C>T, XM_024448008.1:c.52C>T, NR_149170.2:n.110C>T, NR_149170.1:n.101C>T, NM_001355042.2:c.52C>T, NM_001355042.1:c.52C>T, XM_024448007.2:c.52C>T, XM_024448007.1:c.52C>T, XM_024448009.2:c.52C>T, XM_024448009.1:c.52C>T, XP_024303776.1:p.Gln18Ter, NP_001341971.1:p.Gln18Ter, XP_024303775.1:p.Gln18Ter, XP_024303777.1:p.Gln18Ter

Select item 14647506524.

rs1464750652 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:130079759 (GRCh38)
10:131878023 (GRCh37)
Canonical SPDI:: NC_000010.11:130079758:C:A
Gene:: C10orf143 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_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_000010.11:g.130079759C>A, NC_000010.10:g.131878023C>A, NR_034125.2:n.536G>T, NR_034125.1:n.523G>T, XM_024448008.2:c.371G>T, XM_024448008.1:c.371G>T, NR_149170.2:n.270G>T, NR_149170.1:n.261G>T, NM_001355042.2:c.212G>T, NM_001355042.1:c.212G>T, XM_024448007.2:c.371G>T, XM_024448007.1:c.371G>T, XM_024448009.2:c.212G>T, XM_024448009.1:c.212G>T, XP_024303776.1:p.Gly124Val, NP_001341971.1:p.Gly71Val, XP_024303775.1:p.Gly124Val, XP_024303777.1:p.Gly71Val

Select item 14612133505.

rs1461213350 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:130079790 (GRCh38)
10:131878054 (GRCh37)
Canonical SPDI:: NC_000010.11:130079789:C:G
Gene:: C10orf143 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_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_000010.11:g.130079790C>G, NC_000010.10:g.131878054C>G, NR_034125.2:n.505G>C, NR_034125.1:n.492G>C, XM_024448008.2:c.340G>C, XM_024448008.1:c.340G>C, NR_149170.2:n.239G>C, NR_149170.1:n.230G>C, NM_001355042.2:c.181G>C, NM_001355042.1:c.181G>C, XM_024448007.2:c.340G>C, XM_024448007.1:c.340G>C, XM_024448009.2:c.181G>C, XM_024448009.1:c.181G>C, XP_024303776.1:p.Gly114Arg, NP_001341971.1:p.Gly61Arg, XP_024303775.1:p.Gly114Arg, XP_024303777.1:p.Gly61Arg

Select item 14406025326.

rs1440602532 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:130079784 (GRCh38)
10:131878048 (GRCh37)
Canonical SPDI:: NC_000010.11:130079783:G:A
Gene:: C10orf143 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.130079784G>A, NC_000010.10:g.131878048G>A, NR_034125.2:n.511C>T, NR_034125.1:n.498C>T, XM_024448008.2:c.346C>T, XM_024448008.1:c.346C>T, NR_149170.2:n.245C>T, NR_149170.1:n.236C>T, NM_001355042.2:c.187C>T, NM_001355042.1:c.187C>T, XM_024448007.2:c.346C>T, XM_024448007.1:c.346C>T, XM_024448009.2:c.187C>T, XM_024448009.1:c.187C>T, XP_024303776.1:p.Leu116Phe, NP_001341971.1:p.Leu63Phe, XP_024303775.1:p.Leu116Phe, XP_024303777.1:p.Leu63Phe

Select item 14364899627.

rs1436489962 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:130079807 (GRCh38)
10:131878071 (GRCh37)
Canonical SPDI:: NC_000010.11:130079806:C:A,NC_000010.11:130079806:C:T
Gene:: C10orf143 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000071/1 (TOMMO)
HGVS:: NC_000010.11:g.130079807C>A, NC_000010.11:g.130079807C>T, NC_000010.10:g.131878071C>A, NC_000010.10:g.131878071C>T, NR_034125.2:n.488G>T, NR_034125.2:n.488G>A, NR_034125.1:n.475G>T, NR_034125.1:n.475G>A, XM_024448008.2:c.323G>T, XM_024448008.2:c.323G>A, XM_024448008.1:c.323G>T, XM_024448008.1:c.323G>A, NR_149170.2:n.222G>T, NR_149170.2:n.222G>A, NR_149170.1:n.213G>T, NR_149170.1:n.213G>A, NM_001355042.2:c.164G>T, NM_001355042.2:c.164G>A, NM_001355042.1:c.164G>T, NM_001355042.1:c.164G>A, XM_024448007.2:c.323G>T, XM_024448007.2:c.323G>A, XM_024448007.1:c.323G>T, XM_024448007.1:c.323G>A, XM_024448009.2:c.164G>T, XM_024448009.2:c.164G>A, XM_024448009.1:c.164G>T, XM_024448009.1:c.164G>A, XP_024303776.1:p.Arg108Leu, XP_024303776.1:p.Arg108Gln, NP_001341971.1:p.Arg55Leu, NP_001341971.1:p.Arg55Gln, XP_024303775.1:p.Arg108Leu, XP_024303775.1:p.Arg108Gln, XP_024303777.1:p.Arg55Leu, XP_024303777.1:p.Arg55Gln

Select item 14250043658.

rs1425004365 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 10:130110714 (GRCh38)
10:131908978 (GRCh37)
Canonical SPDI:: NC_000010.11:130110713:GG:G
Gene:: C10orf143 (Varview), LOC102724883 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GG=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.130110715del, NC_000010.10:g.131908979del, NR_034125.2:n.117del, NR_034125.1:n.104del, XM_024448008.2:c.59del, XM_024448008.1:c.59del, NR_149170.2:n.117del, NR_149170.1:n.108del, NM_001355042.2:c.59del, NM_001355042.1:c.59del, XM_024448007.2:c.59del, XM_024448007.1:c.59del, XM_024448009.2:c.59del, XM_024448009.1:c.59del, XP_024303776.1:p.Pro20fs, NP_001341971.1:p.Pro20fs, XP_024303775.1:p.Pro20fs, XP_024303777.1:p.Pro20fs

Select item 14069137919.

rs1406913791 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:130064381 (GRCh38)
10:131862645 (GRCh37)
Canonical SPDI:: NC_000010.11:130064380:T:C
Gene:: C10orf143 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.130064381T>C, NC_000010.10:g.131862645T>C, NR_034125.2:n.2201A>G, NR_034125.1:n.2188A>G, XM_024448008.2:c.459A>G, XM_024448008.1:c.459A>G, NR_149170.2:n.481A>G, NR_149170.1:n.472A>G, NM_001355042.2:c.300A>G, NM_001355042.1:c.300A>G

Select item 140660344610.

rs1406603446 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGGGTCCT [Show Flanks]
Chromosome:: 10:130079807 (GRCh38)
10:131878072 (GRCh37)
Canonical SPDI:: NC_000010.11:130079807:GGTCCT:GGTCCTGGGGTCCT
Gene:: C10orf143 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: GGTCCTGGGGTCCT=0./0 (ALFA)
GGTCCTGG=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.130079813_130079814insGGGGTCCT, NC_000010.10:g.131878077_131878078insGGGGTCCT, NR_034125.2:n.487_488insCCAGGACC, NR_034125.1:n.474_475insCCAGGACC, XM_024448008.2:c.322_323insCCAGGACC, XM_024448008.1:c.322_323insCCAGGACC, NR_149170.2:n.221_222insCCAGGACC, NR_149170.1:n.212_213insCCAGGACC, NM_001355042.2:c.163_164insCCAGGACC, NM_001355042.1:c.163_164insCCAGGACC, XM_024448007.2:c.322_323insCCAGGACC, XM_024448007.1:c.322_323insCCAGGACC, XM_024448009.2:c.163_164insCCAGGACC, XM_024448009.1:c.163_164insCCAGGACC, XP_024303776.1:p.Arg108fs, NP_001341971.1:p.Arg55fs, XP_024303775.1:p.Arg108fs, XP_024303777.1:p.Arg55fs

Select item 139122284511.

rs1391222845 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:130064383 (GRCh38)
10:131862647 (GRCh37)
Canonical SPDI:: NC_000010.11:130064382:C:T
Gene:: C10orf143 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.130064383C>T, NC_000010.10:g.131862647C>T, NR_034125.2:n.2199G>A, NR_034125.1:n.2186G>A, XM_024448008.2:c.457G>A, XM_024448008.1:c.457G>A, NR_149170.2:n.479G>A, NR_149170.1:n.470G>A, NM_001355042.2:c.298G>A, NM_001355042.1:c.298G>A, XP_024303776.1:p.Gly153Arg, NP_001341971.1:p.Gly100Arg

Select item 138162357112.

rs1381623571 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:130064378 (GRCh38)
10:131862642 (GRCh37)
Canonical SPDI:: NC_000010.11:130064377:A:G
Gene:: C10orf143 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.130064378A>G, NC_000010.10:g.131862642A>G, NR_034125.2:n.2204T>C, NR_034125.1:n.2191T>C, XM_024448008.2:c.462T>C, XM_024448008.1:c.462T>C, NR_149170.2:n.484T>C, NR_149170.1:n.475T>C, NM_001355042.2:c.303T>C, NM_001355042.1:c.303T>C

Select item 138038454013.

rs1380384540 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:130079894 (GRCh38)
10:131878158 (GRCh37)
Canonical SPDI:: NC_000010.11:130079893:A:G
Gene:: C10orf143 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.130079894A>G, NC_000010.10:g.131878158A>G, NR_034125.2:n.401T>C, NR_034125.1:n.388T>C, XM_024448008.2:c.236T>C, XM_024448008.1:c.236T>C, NR_149170.2:n.135T>C, NR_149170.1:n.126T>C, NM_001355042.2:c.77T>C, NM_001355042.1:c.77T>C, XM_024448007.2:c.236T>C, XM_024448007.1:c.236T>C, XM_024448009.2:c.77T>C, XM_024448009.1:c.77T>C, XP_024303776.1:p.Val79Ala, NP_001341971.1:p.Val26Ala, XP_024303775.1:p.Val79Ala, XP_024303777.1:p.Val26Ala

Select item 137259043614.

rs1372590436 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:130079579 (GRCh38)
10:131877843 (GRCh37)
Canonical SPDI:: NC_000010.11:130079578:A:G
Gene:: C10orf143 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.130079579A>G, NC_000010.10:g.131877843A>G, NR_034125.2:n.608T>C, NR_034125.1:n.595T>C, XM_024448008.2:c.443T>C, XM_024448008.1:c.443T>C, NR_149170.2:n.342T>C, NR_149170.1:n.333T>C, NM_001355042.2:c.284T>C, NM_001355042.1:c.284T>C, XM_024448007.2:c.443T>C, XM_024448007.1:c.443T>C, XM_024448009.2:c.284T>C, XM_024448009.1:c.284T>C, XP_024303776.1:p.Ile148Thr, NP_001341971.1:p.Ile95Thr, XP_024303775.1:p.Ile148Thr, XP_024303777.1:p.Ile95Thr

Select item 135592059715.

rs1355920597 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 10:130110709 (GRCh38)
10:131908973 (GRCh37)
Canonical SPDI:: NC_000010.11:130110708:C:A,NC_000010.11:130110708:C:G,NC_000010.11:130110708:C:T
Gene:: C10orf143 (Varview), LOC102724883 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.130110709C>A, NC_000010.11:g.130110709C>G, NC_000010.11:g.130110709C>T, NC_000010.10:g.131908973C>A, NC_000010.10:g.131908973C>G, NC_000010.10:g.131908973C>T, NR_034125.2:n.122G>T, NR_034125.2:n.122G>C, NR_034125.2:n.122G>A, NR_034125.1:n.109G>T, NR_034125.1:n.109G>C, NR_034125.1:n.109G>A, XM_024448008.2:c.64G>T, XM_024448008.2:c.64G>C, XM_024448008.2:c.64G>A, XM_024448008.1:c.64G>T, XM_024448008.1:c.64G>C, XM_024448008.1:c.64G>A, NR_149170.2:n.122G>T, NR_149170.2:n.122G>C, NR_149170.2:n.122G>A, NR_149170.1:n.113G>T, NR_149170.1:n.113G>C, NR_149170.1:n.113G>A, NM_001355042.2:c.64G>T, NM_001355042.2:c.64G>C, NM_001355042.2:c.64G>A, NM_001355042.1:c.64G>T, NM_001355042.1:c.64G>C, NM_001355042.1:c.64G>A, XM_024448007.2:c.64G>T, XM_024448007.2:c.64G>C, XM_024448007.2:c.64G>A, XM_024448007.1:c.64G>T, XM_024448007.1:c.64G>C, XM_024448007.1:c.64G>A, XM_024448009.2:c.64G>T, XM_024448009.2:c.64G>C, XM_024448009.2:c.64G>A, XM_024448009.1:c.64G>T, XM_024448009.1:c.64G>C, XM_024448009.1:c.64G>A, XP_024303776.1:p.Asp22Tyr, XP_024303776.1:p.Asp22His, XP_024303776.1:p.Asp22Asn, NP_001341971.1:p.Asp22Tyr, NP_001341971.1:p.Asp22His, NP_001341971.1:p.Asp22Asn, XP_024303775.1:p.Asp22Tyr, XP_024303775.1:p.Asp22His, XP_024303775.1:p.Asp22Asn, XP_024303777.1:p.Asp22Tyr, XP_024303777.1:p.Asp22His, XP_024303777.1:p.Asp22Asn

Select item 135259951116.

rs1352599511 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:130110719 (GRCh38)
10:131908983 (GRCh37)
Canonical SPDI:: NC_000010.11:130110718:C:T
Gene:: C10orf143 (Varview), LOC102724883 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.130110719C>T, NC_000010.10:g.131908983C>T, NR_034125.2:n.112G>A, NR_034125.1:n.99G>A, XM_024448008.2:c.54G>A, XM_024448008.1:c.54G>A, NR_149170.2:n.112G>A, NR_149170.1:n.103G>A, NM_001355042.2:c.54G>A, NM_001355042.1:c.54G>A, XM_024448007.2:c.54G>A, XM_024448007.1:c.54G>A, XM_024448009.2:c.54G>A, XM_024448009.1:c.54G>A

Select item 132130913617.

rs1321309136 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:130064363 (GRCh38)
10:131862627 (GRCh37)
Canonical SPDI:: NC_000010.11:130064362:C:T
Gene:: C10orf143 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_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_000010.11:g.130064363C>T, NC_000010.10:g.131862627C>T, NR_034125.2:n.2219G>A, NR_034125.1:n.2206G>A, XM_024448008.2:c.477G>A, XM_024448008.1:c.477G>A, NR_149170.2:n.499G>A, NR_149170.1:n.490G>A, NM_001355042.2:c.318G>A, NM_001355042.1:c.318G>A

Select item 131324108418.

rs1313241084 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTA [Show Flanks]
Chromosome:: 10:130110759 (GRCh38)
10:131909024 (GRCh37)
Canonical SPDI:: NC_000010.11:130110759:CTA:CTACTA
Gene:: C10orf143 (Varview), LOC102724883 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,inframe_insertion,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTACTA=0./0 (ALFA)
CTA=0.000004/1 (TOPMED)
CTA=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.130110760_130110762dup, NC_000010.10:g.131909024_131909026dup, NR_034125.2:n.69_71dup, NR_034125.1:n.56_58dup, XM_024448008.2:c.11_13dup, XM_024448008.1:c.11_13dup, NR_149170.2:n.69_71dup, NR_149170.1:n.60_62dup, NM_001355042.2:c.11_13dup, NM_001355042.1:c.11_13dup, XM_024448007.2:c.11_13dup, XM_024448007.1:c.11_13dup, XM_024448009.2:c.11_13dup, XM_024448009.1:c.11_13dup, XP_024303776.1:p.Ala5_Leu6insVal, NP_001341971.1:p.Ala5_Leu6insVal, XP_024303775.1:p.Ala5_Leu6insVal, XP_024303777.1:p.Ala5_Leu6insVal

Select item 129244550319.

rs1292445503 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:130079816 (GRCh38)
10:131878080 (GRCh37)
Canonical SPDI:: NC_000010.11:130079815:G:A
Gene:: C10orf143 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.130079816G>A, NC_000010.10:g.131878080G>A, NR_034125.2:n.479C>T, NR_034125.1:n.466C>T, XM_024448008.2:c.314C>T, XM_024448008.1:c.314C>T, NR_149170.2:n.213C>T, NR_149170.1:n.204C>T, NM_001355042.2:c.155C>T, NM_001355042.1:c.155C>T, XM_024448007.2:c.314C>T, XM_024448007.1:c.314C>T, XM_024448009.2:c.155C>T, XM_024448009.1:c.155C>T, XP_024303776.1:p.Pro105Leu, NP_001341971.1:p.Pro52Leu, XP_024303775.1:p.Pro105Leu, XP_024303777.1:p.Pro52Leu

Select item 129160322620.

rs1291603226 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:130110714 (GRCh38)
10:131908978 (GRCh37)
Canonical SPDI:: NC_000010.11:130110713:G:A
Gene:: C10orf143 (Varview), LOC102724883 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.130110714G>A, NC_000010.10:g.131908978G>A, NR_034125.2:n.117C>T, NR_034125.1:n.104C>T, XM_024448008.2:c.59C>T, XM_024448008.1:c.59C>T, NR_149170.2:n.117C>T, NR_149170.1:n.108C>T, NM_001355042.2:c.59C>T, NM_001355042.1:c.59C>T, XM_024448007.2:c.59C>T, XM_024448007.1:c.59C>T, XM_024448009.2:c.59C>T, XM_024448009.1:c.59C>T, XP_024303776.1:p.Pro20Leu, NP_001341971.1:p.Pro20Leu, XP_024303775.1:p.Pro20Leu, XP_024303777.1:p.Pro20Leu

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