SNP Links for Protein (Select 222352161) - SNP

Links from Protein

Items: 1 to 20 of 1352

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Select item 14909912141.

rs1490991214 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:47569012 (GRCh38)
4:47571029 (GRCh37)
Canonical SPDI:: NC_000004.12:47569011:A:G,NC_000004.12:47569011:A:T
Gene:: ATP10D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.47569012A>G, NC_000004.12:g.47569012A>T, NC_000004.11:g.47571029A>G, NC_000004.11:g.47571029A>T, NM_020453.4:c.3029A>G, NM_020453.4:c.3029A>T, NM_020453.3:c.3029A>G, NM_020453.3:c.3029A>T, NP_065186.3:p.Glu1010Gly, NP_065186.3:p.Glu1010Val

Select item 14901715602.

rs1490171560 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:47563683 (GRCh38)
4:47565700 (GRCh37)
Canonical SPDI:: NC_000004.12:47563682:A:G
Gene:: ATP10D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.47563683A>G, NC_000004.11:g.47565700A>G, NM_020453.4:c.2771A>G, NM_020453.3:c.2771A>G, NP_065186.3:p.Gln924Arg

Select item 14883272193.

rs1488327219 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:47536691 (GRCh38)
4:47538708 (GRCh37)
Canonical SPDI:: NC_000004.12:47536690:G:A
Gene:: ATP10D (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000004.12:g.47536691G>A, NC_000004.11:g.47538708G>A, NM_020453.4:c.1149G>A, NM_020453.3:c.1149G>A

Select item 14867831034.

rs1486783103 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 4:47591233 (GRCh38)
4:47593251 (GRCh37)
Canonical SPDI:: NC_000004.12:47591233:CCC:CCCC
Gene:: ATP10D (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: CCCC=0.000071/1 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.47591236dup, NC_000004.11:g.47593253dup, NM_020453.4:c.4136dup, NM_020453.3:c.4136dup, NP_065186.3:p.Ser1380fs

Select item 14862118735.

rs1486211873 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:47536764 (GRCh38)
4:47538781 (GRCh37)
Canonical SPDI:: NC_000004.12:47536763:G:C
Gene:: ATP10D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.47536764G>C, NC_000004.11:g.47538781G>C, NM_020453.4:c.1222G>C, NM_020453.3:c.1222G>C, NP_065186.3:p.Asp408His

Select item 14860323556.

rs1486032355 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:47523169 (GRCh38)
4:47525186 (GRCh37)
Canonical SPDI:: NC_000004.12:47523168:G:A
Gene:: ATP10D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.47523169G>A, NC_000004.11:g.47525186G>A, NM_020453.4:c.643G>A, NM_020453.3:c.643G>A, NP_065186.3:p.Glu215Lys

Select item 14857835087.

rs1485783508 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:47560970 (GRCh38)
4:47562987 (GRCh37)
Canonical SPDI:: NC_000004.12:47560969:G:A,NC_000004.12:47560969:G:C
Gene:: ATP10D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.47560970G>A, NC_000004.12:g.47560970G>C, NC_000004.11:g.47562987G>A, NC_000004.11:g.47562987G>C, NM_020453.4:c.2563G>A, NM_020453.4:c.2563G>C, NM_020453.3:c.2563G>A, NM_020453.3:c.2563G>C, NP_065186.3:p.Ala855Thr, NP_065186.3:p.Ala855Pro

Select item 14843979118.

rs1484397911 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 4:47515567 (GRCh38)
4:47517584 (GRCh37)
Canonical SPDI:: NC_000004.12:47515566:G:A,NC_000004.12:47515566:G:C,NC_000004.12:47515566:G:T
Gene:: ATP10D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.00005/1 (ALFA)
HGVS:: NC_000004.12:g.47515567G>A, NC_000004.12:g.47515567G>C, NC_000004.12:g.47515567G>T, NC_000004.11:g.47517584G>A, NC_000004.11:g.47517584G>C, NC_000004.11:g.47517584G>T, NM_020453.4:c.382G>A, NM_020453.4:c.382G>C, NM_020453.4:c.382G>T, NM_020453.3:c.382G>A, NM_020453.3:c.382G>C, NM_020453.3:c.382G>T, NP_065186.3:p.Val128Met, NP_065186.3:p.Val128Leu, NP_065186.3:p.Val128Leu

Select item 14839558299.

rs1483955829 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:47536757 (GRCh38)
4:47538774 (GRCh37)
Canonical SPDI:: NC_000004.12:47536756:T:C
Gene:: ATP10D (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.47536757T>C, NC_000004.11:g.47538774T>C, NM_020453.4:c.1215T>C, NM_020453.3:c.1215T>C

Select item 148154232410.

rs1481542324 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:47572192 (GRCh38)
4:47574209 (GRCh37)
Canonical SPDI:: NC_000004.12:47572191:G:A
Gene:: ATP10D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.47572192G>A, NC_000004.11:g.47574209G>A, NM_020453.4:c.3202G>A, NM_020453.3:c.3202G>A, NP_065186.3:p.Asp1068Asn

Select item 148153209211.

rs1481532092 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 4:47587062 (GRCh38)
4:47589080 (GRCh37)
Canonical SPDI:: NC_000004.12:47587062:TTTTTT:TTTTTTT
Gene:: ATP10D (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTT=0./0 (ALFA)
HGVS:: NC_000004.12:g.47587068dup, NC_000004.11:g.47589085dup, NM_020453.4:c.3803dup, NM_020453.3:c.3803dup, NP_065186.3:p.Leu1268fs

Select item 148106174312.

rs1481061743 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:47554893 (GRCh38)
4:47556910 (GRCh37)
Canonical SPDI:: NC_000004.12:47554892:T:C
Gene:: ATP10D (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.47554893T>C, NC_000004.11:g.47556910T>C, NM_020453.4:c.1803T>C, NM_020453.3:c.1803T>C

Select item 147950462813.

rs1479504628 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 4:47536927 (GRCh38)
4:47538944 (GRCh37)
Canonical SPDI:: NC_000004.12:47536926:A:C,NC_000004.12:47536926:A:G
Gene:: ATP10D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
C=0.001092/2 (Korea1K)
HGVS:: NC_000004.12:g.47536927A>C, NC_000004.12:g.47536927A>G, NC_000004.11:g.47538944A>C, NC_000004.11:g.47538944A>G, NM_020453.4:c.1385A>C, NM_020453.4:c.1385A>G, NM_020453.3:c.1385A>C, NM_020453.3:c.1385A>G, NP_065186.3:p.His462Pro, NP_065186.3:p.His462Arg

Select item 147941064914.

rs1479410649 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:47557906 (GRCh38)
4:47559923 (GRCh37)
Canonical SPDI:: NC_000004.12:47557905:A:G
Gene:: ATP10D (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.47557906A>G, NC_000004.11:g.47559923A>G, NM_020453.4:c.2067A>G, NM_020453.3:c.2067A>G

Select item 147815446915.

rs1478154469 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:47587056 (GRCh38)
4:47589073 (GRCh37)
Canonical SPDI:: NC_000004.12:47587055:T:C
Gene:: ATP10D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.47587056T>C, NC_000004.11:g.47589073T>C, NM_020453.4:c.3791T>C, NM_020453.3:c.3791T>C, NP_065186.3:p.Leu1264Ser

Select item 147801127516.

rs1478011275 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:47546851 (GRCh38)
4:47548868 (GRCh37)
Canonical SPDI:: NC_000004.12:47546850:A:G
Gene:: ATP10D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.47546851A>G, NC_000004.11:g.47548868A>G, NM_020453.4:c.1624A>G, NM_020453.3:c.1624A>G, NP_065186.3:p.Ser542Gly

Select item 147754427817.

rs1477544278 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:47535978 (GRCh38)
4:47537995 (GRCh37)
Canonical SPDI:: NC_000004.12:47535977:A:T
Gene:: ATP10D (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.47535978A>T, NC_000004.11:g.47537995A>T, NM_020453.4:c.960A>T, NM_020453.3:c.960A>T

Select item 147744408218.

rs1477444082 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:47546831 (GRCh38)
4:47548848 (GRCh37)
Canonical SPDI:: NC_000004.12:47546830:A:T
Gene:: ATP10D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.47546831A>T, NC_000004.11:g.47548848A>T, NM_020453.4:c.1604A>T, NM_020453.3:c.1604A>T, NP_065186.3:p.His535Leu

Select item 147678449119.

rs1476784491 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:47576973 (GRCh38)
4:47578990 (GRCh37)
Canonical SPDI:: NC_000004.12:47576972:G:C
Gene:: ATP10D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000546/1 (Korea1K)
HGVS:: NC_000004.12:g.47576973G>C, NC_000004.11:g.47578990G>C, NM_020453.4:c.3567G>C, NM_020453.3:c.3567G>C, NP_065186.3:p.Glu1189Asp

Select item 147570741020.

rs1475707410 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:47512775 (GRCh38)
4:47514792 (GRCh37)
Canonical SPDI:: NC_000004.12:47512774:A:G
Gene:: ATP10D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.47512775A>G, NC_000004.11:g.47514792A>G, NM_020453.4:c.235A>G, NM_020453.3:c.235A>G, NP_065186.3:p.Thr79Ala

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