SNP Links for Protein (Select 4505289) - SNP

Select item 14900018601.

rs1490001860 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:88655259 (GRCh38)
16:88721667 (GRCh37)
Canonical SPDI:: NC_000016.10:88655258:G:A
Gene:: MVD (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.88655259G>A, NC_000016.9:g.88721667G>A, NG_052674.1:g.12895C>T, NM_002461.3:c.837C>T, NM_002461.2:c.837C>T, NM_002461.1:c.837C>T, NG_007291.1:g.791C>T, XM_011523089.3:c.486C>T, XM_011523089.2:c.486C>T, XM_011523089.1:c.486C>T, XM_011523087.3:c.876C>T, XM_011523087.2:c.876C>T, XM_011523087.1:c.876C>T, XM_011523086.3:c.939C>T, XM_011523086.2:c.939C>T, XM_011523086.1:c.939C>T, XM_011523088.3:c.774C>T, XM_011523088.2:c.774C>T, XM_011523088.1:c.774C>T

Select item 14885561612.

rs1488556161 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:88654746 (GRCh38)
16:88721154 (GRCh37)
Canonical SPDI:: NC_000016.10:88654745:G:A
Gene:: MVD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000016.10:g.88654746G>A, NC_000016.9:g.88721154G>A, NG_052674.1:g.13408C>T, NM_002461.3:c.959C>T, NM_002461.2:c.959C>T, NM_002461.1:c.959C>T, NG_007291.1:g.1304C>T, XM_011523089.3:c.608C>T, XM_011523089.2:c.608C>T, XM_011523089.1:c.608C>T, XM_011523087.3:c.998C>T, XM_011523087.2:c.998C>T, XM_011523087.1:c.998C>T, XM_011523086.3:c.1061C>T, XM_011523086.2:c.1061C>T, XM_011523086.1:c.1061C>T, XM_011523088.3:c.896C>T, XM_011523088.2:c.896C>T, XM_011523088.1:c.896C>T, NP_002452.1:p.Ala320Val, XP_011521391.1:p.Ala203Val, XP_011521389.1:p.Ala333Val, XP_011521388.1:p.Ala354Val, XP_011521390.1:p.Ala299Val

Select item 14861670633.

rs1486167063 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:88657509 (GRCh38)
16:88723917 (GRCh37)
Canonical SPDI:: NC_000016.10:88657508:C:A,NC_000016.10:88657508:C:T
Gene:: MVD (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.88657509C>A, NC_000016.10:g.88657509C>T, NC_000016.9:g.88723917C>A, NC_000016.9:g.88723917C>T, NG_052674.1:g.10645G>T, NG_052674.1:g.10645G>A, NM_002461.3:c.330G>T, NM_002461.3:c.330G>A, NM_002461.2:c.330G>T, NM_002461.2:c.330G>A, NM_002461.1:c.330G>T, NM_002461.1:c.330G>A, XM_011523089.3:c.-124G>T, XM_011523089.3:c.-124G>A, XM_011523089.2:c.-124G>T, XM_011523089.2:c.-124G>A, XM_011523089.1:c.-124G>T, XM_011523089.1:c.-124G>A, XM_011523087.3:c.267G>T, XM_011523087.3:c.267G>A, XM_011523087.2:c.267G>T, XM_011523087.2:c.267G>A, XM_011523087.1:c.267G>T, XM_011523087.1:c.267G>A, XM_011523086.3:c.330G>T, XM_011523086.3:c.330G>A, XM_011523086.2:c.330G>T, XM_011523086.2:c.330G>A, XM_011523086.1:c.330G>T, XM_011523086.1:c.330G>A, XM_011523088.3:c.267G>T, XM_011523088.3:c.267G>A, XM_011523088.2:c.267G>T, XM_011523088.2:c.267G>A, XM_011523088.1:c.267G>T, XM_011523088.1:c.267G>A

Select item 14852170024.

rs1485217002 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:88663035 (GRCh38)
16:88729443 (GRCh37)
Canonical SPDI:: NC_000016.10:88663034:C:T
Gene:: MVD (Varview), SNAI3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
HGVS:: NC_000016.10:g.88663035C>T, NC_000016.9:g.88729443C>T, NG_052674.1:g.5119G>A, NM_002461.3:c.46G>A, NM_002461.2:c.46G>A, NM_002461.1:c.46G>A, XM_011523089.3:c.-596G>A, XM_011523089.2:c.-596G>A, XM_011523089.1:c.-596G>A, XM_011523087.3:c.-88G>A, XM_011523087.2:c.-88G>A, XM_011523087.1:c.-88G>A, XM_011523086.3:c.46G>A, XM_011523086.2:c.46G>A, XM_011523086.1:c.46G>A, XM_011523088.3:c.-88G>A, XM_011523088.2:c.-88G>A, XM_011523088.1:c.-88G>A, NP_002452.1:p.Val16Ile, XP_011521388.1:p.Val16Ile

Select item 14820249985.

rs1482024998 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:88656270 (GRCh38)
16:88722678 (GRCh37)
Canonical SPDI:: NC_000016.10:88656269:A:G
Gene:: MVD (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.88656270A>G, NC_000016.9:g.88722678A>G, NG_052674.1:g.11884T>C, NM_002461.3:c.438T>C, NM_002461.2:c.438T>C, NM_002461.1:c.438T>C, XM_011523089.3:c.87T>C, XM_011523089.2:c.87T>C, XM_011523089.1:c.87T>C, XM_011523087.3:c.477T>C, XM_011523087.2:c.477T>C, XM_011523087.1:c.477T>C, XM_011523086.3:c.540T>C, XM_011523086.2:c.540T>C, XM_011523086.1:c.540T>C, XM_011523088.3:c.375T>C, XM_011523088.2:c.375T>C, XM_011523088.1:c.375T>C

Select item 14803360726.

rs1480336072 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:88656133 (GRCh38)
16:88722541 (GRCh37)
Canonical SPDI:: NC_000016.10:88656132:C:T
Gene:: MVD (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.88656133C>T, NC_000016.9:g.88722541C>T, NG_052674.1:g.12021G>A, NM_002461.3:c.575G>A, NM_002461.2:c.575G>A, NM_002461.1:c.575G>A, XM_011523089.3:c.224G>A, XM_011523089.2:c.224G>A, XM_011523089.1:c.224G>A, XM_011523087.3:c.614G>A, XM_011523087.2:c.614G>A, XM_011523087.1:c.614G>A, XM_011523086.3:c.677G>A, XM_011523086.2:c.677G>A, XM_011523086.1:c.677G>A, XM_011523088.3:c.512G>A, XM_011523088.2:c.512G>A, XM_011523088.1:c.512G>A, NP_002452.1:p.Trp192Ter, XP_011521391.1:p.Trp75Ter, XP_011521389.1:p.Trp205Ter, XP_011521388.1:p.Trp226Ter, XP_011521390.1:p.Trp171Ter

Select item 14774858017.

rs1477485801 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCT>- [Show Flanks]
Chromosome:: 16:88655718 (GRCh38)
16:88722126 (GRCh37)
Canonical SPDI:: NC_000016.10:88655712:CTTCTTCT:CTTCT
Gene:: MVD (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: CTTCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.88655715TCT[1], NC_000016.9:g.88722123TCT[1], NG_052674.1:g.12436AAG[1], NM_002461.3:c.616AAG[1], NM_002461.2:c.616AAG[1], NM_002461.1:c.616AAG[1], NG_007291.1:g.332AAG[1], XM_011523089.3:c.265AAG[1], XM_011523089.2:c.265AAG[1], XM_011523089.1:c.265AAG[1], XM_011523087.3:c.655AAG[1], XM_011523087.2:c.655AAG[1], XM_011523087.1:c.655AAG[1], XM_011523086.3:c.718AAG[1], XM_011523086.2:c.718AAG[1], XM_011523086.1:c.718AAG[1], XM_011523088.3:c.553AAG[1], XM_011523088.2:c.553AAG[1], XM_011523088.1:c.553AAG[1], NP_002452.1:p.Lys207del, XP_011521391.1:p.Lys90del, XP_011521389.1:p.Lys220del, XP_011521388.1:p.Lys241del, XP_011521390.1:p.Lys186del

Select item 14773074618.

rs1477307461 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:88652596 (GRCh38)
16:88719004 (GRCh37)
Canonical SPDI:: NC_000016.10:88652595:C:T
Gene:: CYBA (Varview), MVD (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
HGVS:: NC_000016.10:g.88652596C>T, NC_000016.9:g.88719004C>T, NG_052674.1:g.15558G>A, NM_002461.3:c.1132G>A, NM_002461.2:c.1132G>A, NM_002461.1:c.1132G>A, NG_007291.1:g.3454G>A, XM_011523089.3:c.781G>A, XM_011523089.2:c.781G>A, XM_011523089.1:c.781G>A, XM_011523087.3:c.1171G>A, XM_011523087.2:c.1171G>A, XM_011523087.1:c.1171G>A, XM_011523086.3:c.1234G>A, XM_011523086.2:c.1234G>A, XM_011523086.1:c.1234G>A, XM_011523088.3:c.1069G>A, XM_011523088.2:c.1069G>A, XM_011523088.1:c.1069G>A, NP_002452.1:p.Gly378Arg, XP_011521391.1:p.Gly261Arg, XP_011521389.1:p.Gly391Arg, XP_011521388.1:p.Gly412Arg, XP_011521390.1:p.Gly357Arg

Select item 14765058009.

rs1476505800 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:88655218 (GRCh38)
16:88721626 (GRCh37)
Canonical SPDI:: NC_000016.10:88655217:G:A,NC_000016.10:88655217:G:T
Gene:: MVD (Varview)
Functional Consequence:: 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)
A=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.88655218G>A, NC_000016.10:g.88655218G>T, NC_000016.9:g.88721626G>A, NC_000016.9:g.88721626G>T, NG_052674.1:g.12936C>T, NG_052674.1:g.12936C>A, NM_002461.3:c.878C>T, NM_002461.3:c.878C>A, NM_002461.2:c.878C>T, NM_002461.2:c.878C>A, NM_002461.1:c.878C>T, NM_002461.1:c.878C>A, NG_007291.1:g.832C>T, NG_007291.1:g.832C>A, XM_011523089.3:c.527C>T, XM_011523089.3:c.527C>A, XM_011523089.2:c.527C>T, XM_011523089.2:c.527C>A, XM_011523089.1:c.527C>T, XM_011523089.1:c.527C>A, XM_011523087.3:c.917C>T, XM_011523087.3:c.917C>A, XM_011523087.2:c.917C>T, XM_011523087.2:c.917C>A, XM_011523087.1:c.917C>T, XM_011523087.1:c.917C>A, XM_011523086.3:c.980C>T, XM_011523086.3:c.980C>A, XM_011523086.2:c.980C>T, XM_011523086.2:c.980C>A, XM_011523086.1:c.980C>T, XM_011523086.1:c.980C>A, XM_011523088.3:c.815C>T, XM_011523088.3:c.815C>A, XM_011523088.2:c.815C>T, XM_011523088.2:c.815C>A, XM_011523088.1:c.815C>T, XM_011523088.1:c.815C>A, NP_002452.1:p.Ala293Val, NP_002452.1:p.Ala293Asp, XP_011521391.1:p.Ala176Val, XP_011521391.1:p.Ala176Asp, XP_011521389.1:p.Ala306Val, XP_011521389.1:p.Ala306Asp, XP_011521388.1:p.Ala327Val, XP_011521388.1:p.Ala327Asp, XP_011521390.1:p.Ala272Val, XP_011521390.1:p.Ala272Asp

Select item 147307274710.

rs1473072747 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:88663065 (GRCh38)
16:88729473 (GRCh37)
Canonical SPDI:: NC_000016.10:88663064:G:C
Gene:: MVD (Varview), SNAI3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.88663065G>C, NC_000016.9:g.88729473G>C, NG_052674.1:g.5089C>G, NM_002461.3:c.16C>G, NM_002461.2:c.16C>G, NM_002461.1:c.16C>G, XM_011523089.3:c.-626C>G, XM_011523089.2:c.-626C>G, XM_011523089.1:c.-626C>G, XM_011523087.3:c.-118C>G, XM_011523087.2:c.-118C>G, XM_011523087.1:c.-118C>G, XM_011523086.3:c.16C>G, XM_011523086.2:c.16C>G, XM_011523086.1:c.16C>G, XM_011523088.3:c.-118C>G, XM_011523088.2:c.-118C>G, XM_011523088.1:c.-118C>G, NP_002452.1:p.Pro6Ala, XP_011521388.1:p.Pro6Ala

Select item 147079296811.

rs1470792968 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:88655693 (GRCh38)
16:88722101 (GRCh37)
Canonical SPDI:: NC_000016.10:88655692:C:G
Gene:: MVD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000016.10:g.88655693C>G, NC_000016.9:g.88722101C>G, NG_052674.1:g.12461G>C, NM_002461.3:c.641G>C, NM_002461.2:c.641G>C, NM_002461.1:c.641G>C, NG_007291.1:g.357G>C, XM_011523089.3:c.290G>C, XM_011523089.2:c.290G>C, XM_011523089.1:c.290G>C, XM_011523087.3:c.680G>C, XM_011523087.2:c.680G>C, XM_011523087.1:c.680G>C, XM_011523086.3:c.743G>C, XM_011523086.2:c.743G>C, XM_011523086.1:c.743G>C, XM_011523088.3:c.578G>C, XM_011523088.2:c.578G>C, XM_011523088.1:c.578G>C, NP_002452.1:p.Gly214Ala, XP_011521391.1:p.Gly97Ala, XP_011521389.1:p.Gly227Ala, XP_011521388.1:p.Gly248Ala, XP_011521390.1:p.Gly193Ala

Select item 146847337612.

rs1468473376 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:88655708 (GRCh38)
16:88722116 (GRCh37)
Canonical SPDI:: NC_000016.10:88655707:G:A
Gene:: MVD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.88655708G>A, NC_000016.9:g.88722116G>A, NG_052674.1:g.12446C>T, NM_002461.3:c.626C>T, NM_002461.2:c.626C>T, NM_002461.1:c.626C>T, NG_007291.1:g.342C>T, XM_011523089.3:c.275C>T, XM_011523089.2:c.275C>T, XM_011523089.1:c.275C>T, XM_011523087.3:c.665C>T, XM_011523087.2:c.665C>T, XM_011523087.1:c.665C>T, XM_011523086.3:c.728C>T, XM_011523086.2:c.728C>T, XM_011523086.1:c.728C>T, XM_011523088.3:c.563C>T, XM_011523088.2:c.563C>T, XM_011523088.1:c.563C>T, NP_002452.1:p.Thr209Ile, XP_011521391.1:p.Thr92Ile, XP_011521389.1:p.Thr222Ile, XP_011521388.1:p.Thr243Ile, XP_011521390.1:p.Thr188Ile

Select item 146745041613.

rs1467450416 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:88652600 (GRCh38)
16:88719008 (GRCh37)
Canonical SPDI:: NC_000016.10:88652599:C:T
Gene:: CYBA (Varview), MVD (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.88652600C>T, NC_000016.9:g.88719008C>T, NG_052674.1:g.15554G>A, NM_002461.3:c.1128G>A, NM_002461.2:c.1128G>A, NM_002461.1:c.1128G>A, NG_007291.1:g.3450G>A, XM_011523089.3:c.777G>A, XM_011523089.2:c.777G>A, XM_011523089.1:c.777G>A, XM_011523087.3:c.1167G>A, XM_011523087.2:c.1167G>A, XM_011523087.1:c.1167G>A, XM_011523086.3:c.1230G>A, XM_011523086.2:c.1230G>A, XM_011523086.1:c.1230G>A, XM_011523088.3:c.1065G>A, XM_011523088.2:c.1065G>A, XM_011523088.1:c.1065G>A

Select item 146645308814.

rs1466453088 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:88657506 (GRCh38)
16:88723914 (GRCh37)
Canonical SPDI:: NC_000016.10:88657505:G:A
Gene:: MVD (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.88657506G>A, NC_000016.9:g.88723914G>A, NG_052674.1:g.10648C>T, NM_002461.3:c.333C>T, NM_002461.2:c.333C>T, NM_002461.1:c.333C>T, XM_011523089.3:c.-121C>T, XM_011523089.2:c.-121C>T, XM_011523089.1:c.-121C>T, XM_011523087.3:c.270C>T, XM_011523087.2:c.270C>T, XM_011523087.1:c.270C>T, XM_011523086.3:c.333C>T, XM_011523086.2:c.333C>T, XM_011523086.1:c.333C>T, XM_011523088.3:c.270C>T, XM_011523088.2:c.270C>T, XM_011523088.1:c.270C>T

Select item 146590424915.

rs1465904249 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:88653355 (GRCh38)
16:88719763 (GRCh37)
Canonical SPDI:: NC_000016.10:88653354:G:A
Gene:: MVD (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.88653355G>A, NC_000016.9:g.88719763G>A, NG_052674.1:g.14799C>T, NM_002461.3:c.1067C>T, NM_002461.2:c.1067C>T, NM_002461.1:c.1067C>T, NG_007291.1:g.2695C>T, XM_011523089.3:c.716C>T, XM_011523089.2:c.716C>T, XM_011523089.1:c.716C>T, XM_011523087.3:c.1106C>T, XM_011523087.2:c.1106C>T, XM_011523087.1:c.1106C>T, XM_011523086.3:c.1169C>T, XM_011523086.2:c.1169C>T, XM_011523086.1:c.1169C>T, XM_011523088.3:c.1004C>T, XM_011523088.2:c.1004C>T, XM_011523088.1:c.1004C>T, NP_002452.1:p.Ala356Val, XP_011521391.1:p.Ala239Val, XP_011521389.1:p.Ala369Val, XP_011521388.1:p.Ala390Val, XP_011521390.1:p.Ala335Val

Select item 146585630116.

rs1465856301 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 16:88655387 (GRCh38)
16:88721795 (GRCh37)
Canonical SPDI:: NC_000016.10:88655386:T:A,NC_000016.10:88655386:T:C
Gene:: MVD (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)
HGVS:: NC_000016.10:g.88655387T>A, NC_000016.10:g.88655387T>C, NC_000016.9:g.88721795T>A, NC_000016.9:g.88721795T>C, NG_052674.1:g.12767A>T, NG_052674.1:g.12767A>G, NM_002461.3:c.709A>T, NM_002461.3:c.709A>G, NM_002461.2:c.709A>T, NM_002461.2:c.709A>G, NM_002461.1:c.709A>T, NM_002461.1:c.709A>G, NG_007291.1:g.663A>T, NG_007291.1:g.663A>G, XM_011523089.3:c.358A>T, XM_011523089.3:c.358A>G, XM_011523089.2:c.358A>T, XM_011523089.2:c.358A>G, XM_011523089.1:c.358A>T, XM_011523089.1:c.358A>G, XM_011523087.3:c.748A>T, XM_011523087.3:c.748A>G, XM_011523087.2:c.748A>T, XM_011523087.2:c.748A>G, XM_011523087.1:c.748A>T, XM_011523087.1:c.748A>G, XM_011523086.3:c.811A>T, XM_011523086.3:c.811A>G, XM_011523086.2:c.811A>T, XM_011523086.2:c.811A>G, XM_011523086.1:c.811A>T, XM_011523086.1:c.811A>G, XM_011523088.3:c.646A>T, XM_011523088.3:c.646A>G, XM_011523088.2:c.646A>T, XM_011523088.2:c.646A>G, XM_011523088.1:c.646A>T, XM_011523088.1:c.646A>G, NP_002452.1:p.Met237Leu, NP_002452.1:p.Met237Val, XP_011521391.1:p.Met120Leu, XP_011521391.1:p.Met120Val, XP_011521389.1:p.Met250Leu, XP_011521389.1:p.Met250Val, XP_011521388.1:p.Met271Leu, XP_011521388.1:p.Met271Val, XP_011521390.1:p.Met216Leu, XP_011521390.1:p.Met216Val

Select item 146510376417.

rs1465103764 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:88657930 (GRCh38)
16:88724338 (GRCh37)
Canonical SPDI:: NC_000016.10:88657929:C:T
Gene:: MVD (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.88657930C>T, NC_000016.9:g.88724338C>T, NG_052674.1:g.10224G>A, NM_002461.3:c.241G>A, NM_002461.2:c.241G>A, NM_002461.1:c.241G>A, XM_011523089.3:c.-213G>A, XM_011523089.2:c.-213G>A, XM_011523089.1:c.-213G>A, XM_011523087.3:c.178G>A, XM_011523087.2:c.178G>A, XM_011523087.1:c.178G>A, XM_011523086.3:c.241G>A, XM_011523086.2:c.241G>A, XM_011523086.1:c.241G>A, XM_011523088.3:c.178G>A, XM_011523088.2:c.178G>A, XM_011523088.1:c.178G>A, NP_002452.1:p.Ala81Thr, XP_011521389.1:p.Ala60Thr, XP_011521388.1:p.Ala81Thr, XP_011521390.1:p.Ala60Thr

Select item 146105375218.

rs1461053752 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:88655366 (GRCh38)
16:88721774 (GRCh37)
Canonical SPDI:: NC_000016.10:88655365:T:C
Gene:: MVD (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.88655366T>C, NC_000016.9:g.88721774T>C, NG_052674.1:g.12788A>G, NM_002461.3:c.730A>G, NM_002461.2:c.730A>G, NM_002461.1:c.730A>G, NG_007291.1:g.684A>G, XM_011523089.3:c.379A>G, XM_011523089.2:c.379A>G, XM_011523089.1:c.379A>G, XM_011523087.3:c.769A>G, XM_011523087.2:c.769A>G, XM_011523087.1:c.769A>G, XM_011523086.3:c.832A>G, XM_011523086.2:c.832A>G, XM_011523086.1:c.832A>G, XM_011523088.3:c.667A>G, XM_011523088.2:c.667A>G, XM_011523088.1:c.667A>G, NP_002452.1:p.Ile244Val, XP_011521391.1:p.Ile127Val, XP_011521389.1:p.Ile257Val, XP_011521388.1:p.Ile278Val, XP_011521390.1:p.Ile223Val

Select item 145780503819.

rs1457805038 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:88663041 (GRCh38)
16:88729449 (GRCh37)
Canonical SPDI:: NC_000016.10:88663040:C:G,NC_000016.10:88663040:C:T
Gene:: MVD (Varview), SNAI3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.88663041C>G, NC_000016.10:g.88663041C>T, NC_000016.9:g.88729449C>G, NC_000016.9:g.88729449C>T, NG_052674.1:g.5113G>C, NG_052674.1:g.5113G>A, NM_002461.3:c.40G>C, NM_002461.3:c.40G>A, NM_002461.2:c.40G>C, NM_002461.2:c.40G>A, NM_002461.1:c.40G>C, NM_002461.1:c.40G>A, XM_011523089.3:c.-602G>C, XM_011523089.3:c.-602G>A, XM_011523089.2:c.-602G>C, XM_011523089.2:c.-602G>A, XM_011523089.1:c.-602G>C, XM_011523089.1:c.-602G>A, XM_011523087.3:c.-94G>C, XM_011523087.3:c.-94G>A, XM_011523087.2:c.-94G>C, XM_011523087.2:c.-94G>A, XM_011523087.1:c.-94G>C, XM_011523087.1:c.-94G>A, XM_011523086.3:c.40G>C, XM_011523086.3:c.40G>A, XM_011523086.2:c.40G>C, XM_011523086.2:c.40G>A, XM_011523086.1:c.40G>C, XM_011523086.1:c.40G>A, XM_011523088.3:c.-94G>C, XM_011523088.3:c.-94G>A, XM_011523088.2:c.-94G>C, XM_011523088.2:c.-94G>A, XM_011523088.1:c.-94G>C, XM_011523088.1:c.-94G>A, NP_002452.1:p.Ala14Pro, NP_002452.1:p.Ala14Thr, XP_011521388.1:p.Ala14Pro, XP_011521388.1:p.Ala14Thr

Select item 145738445320.

rs1457384453 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:88656123 (GRCh38)
16:88722531 (GRCh37)
Canonical SPDI:: NC_000016.10:88656122:G:C
Gene:: MVD (Varview)
Functional Consequence:: synonymous_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)
HGVS:: NC_000016.10:g.88656123G>C, NC_000016.9:g.88722531G>C, NG_052674.1:g.12031C>G, NM_002461.3:c.585C>G, NM_002461.2:c.585C>G, NM_002461.1:c.585C>G, XM_011523089.3:c.234C>G, XM_011523089.2:c.234C>G, XM_011523089.1:c.234C>G, XM_011523087.3:c.624C>G, XM_011523087.2:c.624C>G, XM_011523087.1:c.624C>G, XM_011523086.3:c.687C>G, XM_011523086.2:c.687C>G, XM_011523086.1:c.687C>G, XM_011523088.3:c.522C>G, XM_011523088.2:c.522C>G, XM_011523088.1:c.522C>G

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Result Filters

Clinical Significance

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Items: 1 to 20 of 551

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