SNP Links for Protein (Select 4757804) - SNP

Links from Protein

Items: 1 to 20 of 66

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Select item 14647777561.

rs1464777756 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:151751708 (GRCh38)
5:151131269 (GRCh37)
Canonical SPDI:: NC_000005.10:151751707:A:G
Gene:: ATOX1 (Varview), ATOX1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.151751708A>G, NC_000005.9:g.151131269A>G, NM_004045.4:c.78T>C, NM_004045.3:c.78T>C

Select item 14501274822.

rs1450127482 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:151746443 (GRCh38)
5:151126004 (GRCh37)
Canonical SPDI:: NC_000005.10:151746442:T:G
Gene:: ATOX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.151746443T>G, NC_000005.9:g.151126004T>G, NM_004045.4:c.89A>C, NM_004045.3:c.89A>C, NP_004036.1:p.Lys30Thr

Select item 14336318273.

rs1433631827 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:151751737 (GRCh38)
5:151131298 (GRCh37)
Canonical SPDI:: NC_000005.10:151751736:C:T
Gene:: ATOX1 (Varview), ATOX1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.151751737C>T, NC_000005.9:g.151131298C>T, NM_004045.4:c.49G>A, NM_004045.3:c.49G>A, NP_004036.1:p.Glu17Lys

Select item 14291487874.

rs1429148787 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:151746374 (GRCh38)
5:151125935 (GRCh37)
Canonical SPDI:: NC_000005.10:151746373:G:A
Gene:: ATOX1 (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)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.151746374G>A, NC_000005.9:g.151125935G>A, NM_004045.4:c.158C>T, NM_004045.3:c.158C>T, NP_004036.1:p.Ala53Val

Select item 13861794065.

rs1386179406 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:151751720 (GRCh38)
5:151131281 (GRCh37)
Canonical SPDI:: NC_000005.10:151751719:G:C
Gene:: ATOX1 (Varview), ATOX1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.151751720G>C, NC_000005.9:g.151131281G>C, NM_004045.4:c.66C>G, NM_004045.3:c.66C>G

Select item 13596090336.

rs1359609033 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:151746442 (GRCh38)
5:151126003 (GRCh37)
Canonical SPDI:: NC_000005.10:151746441:C:G
Gene:: ATOX1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.151746442C>G, NC_000005.9:g.151126003C>G, NM_004045.4:c.90G>C, NM_004045.3:c.90G>C, NP_004036.1:p.Lys30Asn

Select item 13515650657.

rs1351565065 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:151751742 (GRCh38)
5:151131303 (GRCh37)
Canonical SPDI:: NC_000005.10:151751741:C:T
Gene:: ATOX1 (Varview), ATOX1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.151751742C>T, NC_000005.9:g.151131303C>T, NM_004045.4:c.44G>A, NM_004045.3:c.44G>A, NP_004036.1:p.Cys15Tyr

Select item 13513008628.

rs1351300862 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:151751727 (GRCh38)
5:151131288 (GRCh37)
Canonical SPDI:: NC_000005.10:151751726:G:A,NC_000005.10:151751726:G:C
Gene:: ATOX1 (Varview), ATOX1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.151751727G>A, NC_000005.10:g.151751727G>C, NC_000005.9:g.151131288G>A, NC_000005.9:g.151131288G>C, NM_004045.4:c.59C>T, NM_004045.4:c.59C>G, NM_004045.3:c.59C>T, NM_004045.3:c.59C>G, NP_004036.1:p.Ser20Phe, NP_004036.1:p.Ser20Cys

Select item 13206673219.

rs1320667321 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:151746353 (GRCh38)
5:151125914 (GRCh37)
Canonical SPDI:: NC_000005.10:151746352:T:C
Gene:: ATOX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.151746353T>C, NC_000005.9:g.151125914T>C, NM_004045.4:c.179A>G, NM_004045.3:c.179A>G, NP_004036.1:p.Lys60Arg

Select item 131032441310.

rs1310324413 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:151746352 (GRCh38)
5:151125913 (GRCh37)
Canonical SPDI:: NC_000005.10:151746351:C:T
Gene:: ATOX1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.151746352C>T, NC_000005.9:g.151125913C>T, NM_004045.4:c.180G>A, NM_004045.3:c.180G>A

Select item 130985859111.

rs1309858591 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:151746339 (GRCh38)
5:151125900 (GRCh37)
Canonical SPDI:: NC_000005.10:151746338:G:T
Gene:: ATOX1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.151746339G>T, NC_000005.9:g.151125900G>T, NM_004045.4:c.193C>A, NM_004045.3:c.193C>A, NP_004036.1:p.Leu65Ile

Select item 130731573312.

rs1307315733 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:151746348 (GRCh38)
5:151125909 (GRCh37)
Canonical SPDI:: NC_000005.10:151746347:C:T
Gene:: ATOX1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.151746348C>T, NC_000005.9:g.151125909C>T, NM_004045.4:c.184G>A, NM_004045.3:c.184G>A, NP_004036.1:p.Val62Ile

Select item 127640587713.

rs1276405877 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:151746377 (GRCh38)
5:151125938 (GRCh37)
Canonical SPDI:: NC_000005.10:151746376:A:G
Gene:: ATOX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.151746377A>G, NC_000005.9:g.151125938A>G, NM_004045.4:c.155T>C, NM_004045.3:c.155T>C, NP_004036.1:p.Leu52Pro

Select item 127375940114.

rs1273759401 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:151751740 (GRCh38)
5:151131301 (GRCh37)
Canonical SPDI:: NC_000005.10:151751739:C:T
Gene:: ATOX1 (Varview), ATOX1-AS1 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.151751740C>T, NC_000005.9:g.151131301C>T, NM_004045.4:c.46G>A, NM_004045.3:c.46G>A, NP_004036.1:p.Ala16Thr

Select item 125877949815.

rs1258779498 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:151746396 (GRCh38)
5:151125957 (GRCh37)
Canonical SPDI:: NC_000005.10:151746395:G:A
Gene:: ATOX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.151746396G>A, NC_000005.9:g.151125957G>A, NM_004045.4:c.136C>T, NM_004045.3:c.136C>T, NP_004036.1:p.His46Tyr

Select item 125855412416.

rs1258554124 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:151746425 (GRCh38)
5:151125986 (GRCh37)
Canonical SPDI:: NC_000005.10:151746424:G:A,NC_000005.10:151746424:G:C
Gene:: ATOX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.151746425G>A, NC_000005.10:g.151746425G>C, NC_000005.9:g.151125986G>A, NC_000005.9:g.151125986G>C, NM_004045.4:c.107C>T, NM_004045.4:c.107C>G, NM_004045.3:c.107C>T, NM_004045.3:c.107C>G, NP_004036.1:p.Pro36Leu, NP_004036.1:p.Pro36Arg

Select item 123682011817.

rs1236820118 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:151751750 (GRCh38)
5:151131311 (GRCh37)
Canonical SPDI:: NC_000005.10:151751749:A:G
Gene:: ATOX1 (Varview), ATOX1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.151751750A>G, NC_000005.9:g.151131311A>G, NM_004045.4:c.36T>C, NM_004045.3:c.36T>C

Select item 123076530918.

rs1230765309 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:151751751 (GRCh38)
5:151131312 (GRCh37)
Canonical SPDI:: NC_000005.10:151751750:C:G,NC_000005.10:151751750:C:T
Gene:: ATOX1 (Varview), ATOX1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.151751751C>G, NC_000005.10:g.151751751C>T, NC_000005.9:g.151131312C>G, NC_000005.9:g.151131312C>T, NM_004045.4:c.35G>C, NM_004045.4:c.35G>A, NM_004045.3:c.35G>C, NM_004045.3:c.35G>A, NP_004036.1:p.Cys12Ser, NP_004036.1:p.Cys12Tyr

Select item 122697150719.

rs1226971507 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:151751723 (GRCh38)
5:151131284 (GRCh37)
Canonical SPDI:: NC_000005.10:151751722:C:T
Gene:: ATOX1 (Varview), ATOX1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,synonymous_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_000005.10:g.151751723C>T, NC_000005.9:g.151131284C>T, NM_004045.4:c.63G>A, NM_004045.3:c.63G>A

Select item 121453758020.

rs1214537580 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:151751709 (GRCh38)
5:151131270 (GRCh37)
Canonical SPDI:: NC_000005.10:151751708:A:G
Gene:: ATOX1 (Varview), ATOX1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.151751709A>G, NC_000005.9:g.151131270A>G, NM_004045.4:c.77T>C, NM_004045.3:c.77T>C, NP_004036.1:p.Leu26Pro

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