SNP Links for Protein (Select 5453838) - SNP

Links from Protein

Items: 1 to 20 of 189

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Select item 14876640931.

rs1487664093 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65571533 (GRCh38)
11:65339004 (GRCh37)
Canonical SPDI:: NC_000011.10:65571532:G:A
Gene:: ZNRD2 (Varview), FAM89B (Varview), ZNRD2-DT (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.65571533G>A, NC_000011.9:g.65339004G>A, NM_006396.3:c.399G>A, NM_006396.2:c.399G>A, NM_006396.1:c.399G>A, NM_001303024.2:c.288G>A, NM_001303024.1:c.288G>A

Select item 14854585442.

rs1485458544 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:65571472 (GRCh38)
11:65338943 (GRCh37)
Canonical SPDI:: NC_000011.10:65571471:C:G,NC_000011.10:65571471:C:T
Gene:: ZNRD2 (Varview), FAM89B (Varview), ZNRD2-DT (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
T=0.000342/1 (KOREAN)
HGVS:: NC_000011.10:g.65571472C>G, NC_000011.10:g.65571472C>T, NC_000011.9:g.65338943C>G, NC_000011.9:g.65338943C>T, NM_006396.3:c.338C>G, NM_006396.3:c.338C>T, NM_006396.2:c.338C>G, NM_006396.2:c.338C>T, NM_006396.1:c.338C>G, NM_006396.1:c.338C>T, NM_001303024.2:c.227C>G, NM_001303024.2:c.227C>T, NM_001303024.1:c.227C>G, NM_001303024.1:c.227C>T, NP_006387.1:p.Pro113Arg, NP_006387.1:p.Pro113Leu, NP_001289953.1:p.Pro76Arg, NP_001289953.1:p.Pro76Leu

Select item 14739861633.

rs1473986163 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65570628 (GRCh38)
11:65338099 (GRCh37)
Canonical SPDI:: NC_000011.10:65570627:C:T
Gene:: ZNRD2 (Varview), FAM89B (Varview), ZNRD2-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.65570628C>T, NC_000011.9:g.65338099C>T, NM_006396.3:c.44C>T, NM_006396.2:c.44C>T, NM_006396.1:c.44C>T, NM_001303024.2:c.-68C>T, NM_001303024.1:c.-68C>T, NP_006387.1:p.Pro15Leu

Select item 14739655364.

rs1473965536 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:65570746 (GRCh38)
11:65338217 (GRCh37)
Canonical SPDI:: NC_000011.10:65570745:G:C
Gene:: ZNRD2 (Varview), FAM89B (Varview), ZNRD2-DT (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65570746G>C, NC_000011.9:g.65338217G>C, NM_006396.3:c.162G>C, NM_006396.2:c.162G>C, NM_006396.1:c.162G>C, NM_001303024.2:c.51G>C, NM_001303024.1:c.51G>C

Select item 14734487495.

rs1473448749 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:65570682 (GRCh38)
11:65338153 (GRCh37)
Canonical SPDI:: NC_000011.10:65570681:G:T
Gene:: ZNRD2 (Varview), FAM89B (Varview), ZNRD2-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.65570682G>T, NC_000011.9:g.65338153G>T, NM_006396.3:c.98G>T, NM_006396.2:c.98G>T, NM_006396.1:c.98G>T, NM_001303024.2:c.-14G>T, NM_001303024.1:c.-14G>T, NP_006387.1:p.Arg33Leu

Select item 14661780296.

rs1466178029 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65571496 (GRCh38)
11:65338967 (GRCh37)
Canonical SPDI:: NC_000011.10:65571495:G:A
Gene:: ZNRD2 (Varview), FAM89B (Varview), ZNRD2-DT (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.65571496G>A, NC_000011.9:g.65338967G>A, NM_006396.3:c.362G>A, NM_006396.2:c.362G>A, NM_006396.1:c.362G>A, NM_001303024.2:c.251G>A, NM_001303024.1:c.251G>A, NP_006387.1:p.Arg121His, NP_001289953.1:p.Arg84His

Select item 14632888787.

rs1463288878 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:65570734 (GRCh38)
11:65338205 (GRCh37)
Canonical SPDI:: NC_000011.10:65570733:C:G
Gene:: ZNRD2 (Varview), FAM89B (Varview), ZNRD2-DT (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.65570734C>G, NC_000011.9:g.65338205C>G, NM_006396.3:c.150C>G, NM_006396.2:c.150C>G, NM_006396.1:c.150C>G, NM_001303024.2:c.39C>G, NM_001303024.1:c.39C>G

Select item 14543610438.

rs1454361043 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 11:65570696 (GRCh38)
11:65338167 (GRCh37)
Canonical SPDI:: NC_000011.10:65570695:A:G,NC_000011.10:65570695:A:T
Gene:: ZNRD2 (Varview), FAM89B (Varview), ZNRD2-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,initiator_codon_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.000342/1 (KOREAN)
HGVS:: NC_000011.10:g.65570696A>G, NC_000011.10:g.65570696A>T, NC_000011.9:g.65338167A>G, NC_000011.9:g.65338167A>T, NM_006396.3:c.112A>G, NM_006396.3:c.112A>T, NM_006396.2:c.112A>G, NM_006396.2:c.112A>T, NM_006396.1:c.112A>G, NM_006396.1:c.112A>T, NM_001303024.2:c.1A>G, NM_001303024.2:c.1A>T, NM_001303024.1:c.1A>G, NM_001303024.1:c.1A>T, NP_006387.1:p.Met38Val, NP_006387.1:p.Met38Leu, NP_001289953.1:p.Met1Val, NP_001289953.1:p.Met1Leu

Select item 14499180309.

rs1449918030 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65570969 (GRCh38)
11:65338440 (GRCh37)
Canonical SPDI:: NC_000011.10:65570968:C:T
Gene:: ZNRD2 (Varview), FAM89B (Varview), ZNRD2-DT (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.65570969C>T, NC_000011.9:g.65338440C>T, NM_006396.3:c.255C>T, NM_006396.2:c.255C>T, NM_006396.1:c.255C>T, NM_001303024.2:c.144C>T, NM_001303024.1:c.144C>T

Select item 144803681210.

rs1448036812 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:65571733 (GRCh38)
11:65339204 (GRCh37)
Canonical SPDI:: NC_000011.10:65571732:A:G
Gene:: ZNRD2 (Varview), FAM89B (Varview), ZNRD2-DT (Varview)
Functional Consequence:: synonymous_variant,terminator_codon_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000011.10:g.65571733A>G, NC_000011.9:g.65339204A>G, NM_006396.3:c.599A>G, NM_006396.2:c.599A>G, NM_006396.1:c.599A>G, NM_001303024.2:c.488A>G, NM_001303024.1:c.488A>G

Select item 144066580411.

rs1440665804 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:65571477 (GRCh38)
11:65338948 (GRCh37)
Canonical SPDI:: NC_000011.10:65571476:C:G
Gene:: ZNRD2 (Varview), FAM89B (Varview), ZNRD2-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65571477C>G, NC_000011.9:g.65338948C>G, NM_006396.3:c.343C>G, NM_006396.2:c.343C>G, NM_006396.1:c.343C>G, NM_001303024.2:c.232C>G, NM_001303024.1:c.232C>G, NP_006387.1:p.Pro115Ala, NP_001289953.1:p.Pro78Ala

Select item 143737847512.

rs1437378475 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65571455 (GRCh38)
11:65338926 (GRCh37)
Canonical SPDI:: NC_000011.10:65571454:C:T
Gene:: ZNRD2 (Varview), FAM89B (Varview), ZNRD2-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.65571455C>T, NC_000011.9:g.65338926C>T, NM_006396.3:c.321C>T, NM_006396.2:c.321C>T, NM_006396.1:c.321C>T, NM_001303024.2:c.210C>T, NM_001303024.1:c.210C>T

Select item 143602422713.

rs1436024227 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:65571705 (GRCh38)
11:65339176 (GRCh37)
Canonical SPDI:: NC_000011.10:65571704:C:G
Gene:: ZNRD2 (Varview), FAM89B (Varview), ZNRD2-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_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_000011.10:g.65571705C>G, NC_000011.9:g.65339176C>G, NM_006396.3:c.571C>G, NM_006396.2:c.571C>G, NM_006396.1:c.571C>G, NM_001303024.2:c.460C>G, NM_001303024.1:c.460C>G, NP_006387.1:p.Leu191Val, NP_001289953.1:p.Leu154Val

Select item 143456878214.

rs1434568782 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:65570702 (GRCh38)
11:65338173 (GRCh37)
Canonical SPDI:: NC_000011.10:65570701:G:C
Gene:: ZNRD2 (Varview), FAM89B (Varview), ZNRD2-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.00005/1 (ALFA)
HGVS:: NC_000011.10:g.65570702G>C, NC_000011.9:g.65338173G>C, NM_006396.3:c.118G>C, NM_006396.2:c.118G>C, NM_006396.1:c.118G>C, NM_001303024.2:c.7G>C, NM_001303024.1:c.7G>C, NP_006387.1:p.Asp40His, NP_001289953.1:p.Asp3His

Select item 142843279815.

rs1428432798 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:65571687 (GRCh38)
11:65339158 (GRCh37)
Canonical SPDI:: NC_000011.10:65571686:C:G
Gene:: ZNRD2 (Varview), FAM89B (Varview), ZNRD2-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.65571687C>G, NC_000011.9:g.65339158C>G, NM_006396.3:c.553C>G, NM_006396.2:c.553C>G, NM_006396.1:c.553C>G, NM_001303024.2:c.442C>G, NM_001303024.1:c.442C>G, NP_006387.1:p.Arg185Gly, NP_001289953.1:p.Arg148Gly

Select item 142137905616.

rs1421379056 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:65571626 (GRCh38)
11:65339097 (GRCh37)
Canonical SPDI:: NC_000011.10:65571625:C:G
Gene:: ZNRD2 (Varview), FAM89B (Varview), ZNRD2-DT (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.65571626C>G, NC_000011.9:g.65339097C>G, NM_006396.3:c.492C>G, NM_006396.2:c.492C>G, NM_006396.1:c.492C>G, NM_001303024.2:c.381C>G, NM_001303024.1:c.381C>G

Select item 140907690117.

rs1409076901 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:65570921 (GRCh38)
11:65338392 (GRCh37)
Canonical SPDI:: NC_000011.10:65570920:C:A
Gene:: ZNRD2 (Varview), FAM89B (Varview), ZNRD2-DT (Varview)
Functional Consequence:: stop_gained,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65570921C>A, NC_000011.9:g.65338392C>A, NM_006396.3:c.207C>A, NM_006396.2:c.207C>A, NM_006396.1:c.207C>A, NM_001303024.2:c.96C>A, NM_001303024.1:c.96C>A, NP_006387.1:p.Tyr69Ter, NP_001289953.1:p.Tyr32Ter

Select item 140807220018.

rs1408072200 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:65571524 (GRCh38)
11:65338995 (GRCh37)
Canonical SPDI:: NC_000011.10:65571523:A:C
Gene:: ZNRD2 (Varview), FAM89B (Varview), ZNRD2-DT (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65571524A>C, NC_000011.9:g.65338995A>C, NM_006396.3:c.390A>C, NM_006396.2:c.390A>C, NM_006396.1:c.390A>C, NM_001303024.2:c.279A>C, NM_001303024.1:c.279A>C

Select item 140760637219.

rs1407606372 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65570689 (GRCh38)
11:65338160 (GRCh37)
Canonical SPDI:: NC_000011.10:65570688:C:T
Gene:: ZNRD2 (Varview), FAM89B (Varview), ZNRD2-DT (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.65570689C>T, NC_000011.9:g.65338160C>T, NM_006396.3:c.105C>T, NM_006396.2:c.105C>T, NM_006396.1:c.105C>T, NM_001303024.2:c.-7C>T, NM_001303024.1:c.-7C>T

Select item 139697076520.

rs1396970765 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65571420 (GRCh38)
11:65338891 (GRCh37)
Canonical SPDI:: NC_000011.10:65571419:G:A
Gene:: ZNRD2 (Varview), FAM89B (Varview), ZNRD2-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000011.10:g.65571420G>A, NC_000011.9:g.65338891G>A, NM_006396.3:c.286G>A, NM_006396.2:c.286G>A, NM_006396.1:c.286G>A, NM_001303024.2:c.175G>A, NM_001303024.1:c.175G>A, NP_006387.1:p.Ala96Thr, NP_001289953.1:p.Ala59Thr

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