SNP Links for Protein (Select 308199482) - SNP

Links from Protein

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Select item 14908093651.

rs1490809365 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:45409937 (GRCh38)
20:44038577 (GRCh37)
Canonical SPDI:: NC_000020.11:45409936:G:A
Gene:: DBNDD2 (Varview), SYS1-DBNDD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,3_prime_UTR_variant
HGVS:: NC_000020.11:g.45409937G>A, NC_000020.10:g.44038577G>A, NM_001048226.4:c.*42G>A, NM_001048226.3:c.*42G>A, NM_001048226.2:c.*42G>A, NM_001048225.4:c.283G>A, NM_001048225.3:c.283G>A, NM_001048225.2:c.589G>A, NM_018478.3:c.577G>A, NM_001048222.3:c.*42G>A, NM_001048222.2:c.*42G>A, NM_001048224.3:c.*42G>A, NM_001048224.2:c.*42G>A, NM_001048221.3:c.283G>A, NM_001048221.2:c.283G>A, NM_001048223.3:c.283G>A, NM_001048223.2:c.283G>A, NR_003189.2:n.671G>A, NM_001197140.2:c.283G>A, NM_001197140.1:c.283G>A, NM_001197139.2:c.283G>A, NM_001197139.1:c.283G>A, NP_001041690.3:p.Asp95Asn, NP_060948.3:p.Asp193Asn, NP_001041686.1:p.Asp95Asn, NP_001041688.1:p.Asp95Asn, NP_001184069.1:p.Asp95Asn, NP_001184068.1:p.Asp95Asn

Select item 14832199582.

rs1483219958 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:45410121 (GRCh38)
20:44038761 (GRCh37)
Canonical SPDI:: NC_000020.11:45410120:A:G
Gene:: DBNDD2 (Varview), SYS1-DBNDD2 (Varview), LOC107985405 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.45410121A>G, NC_000020.10:g.44038761A>G, NM_001048226.4:c.*226A>G, NM_001048226.3:c.*226A>G, NM_001048226.2:c.*226A>G, NM_001048225.4:c.467A>G, NM_001048225.3:c.467A>G, NM_001048225.2:c.773A>G, NM_018478.3:c.761A>G, NM_001048222.3:c.*226A>G, NM_001048222.2:c.*226A>G, NM_001048224.3:c.*226A>G, NM_001048224.2:c.*226A>G, NM_001048221.3:c.467A>G, NM_001048221.2:c.467A>G, NM_001048223.3:c.467A>G, NM_001048223.2:c.467A>G, NR_003189.2:n.855A>G, NM_001197140.2:c.467A>G, NM_001197140.1:c.467A>G, NM_001197139.2:c.467A>G, NM_001197139.1:c.467A>G, NP_001041690.3:p.Glu156Gly, NP_060948.3:p.Glu254Gly, NP_001041686.1:p.Glu156Gly, NP_001041688.1:p.Glu156Gly, NP_001184069.1:p.Glu156Gly, NP_001184068.1:p.Glu156Gly

Select item 14804624153.

rs1480462415 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:45409949 (GRCh38)
20:44038589 (GRCh37)
Canonical SPDI:: NC_000020.11:45409948:G:A
Gene:: DBNDD2 (Varview), SYS1-DBNDD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.45409949G>A, NC_000020.10:g.44038589G>A, NM_001048226.4:c.*54G>A, NM_001048226.3:c.*54G>A, NM_001048226.2:c.*54G>A, NM_001048225.4:c.295G>A, NM_001048225.3:c.295G>A, NM_001048225.2:c.601G>A, NM_018478.3:c.589G>A, NM_001048222.3:c.*54G>A, NM_001048222.2:c.*54G>A, NM_001048224.3:c.*54G>A, NM_001048224.2:c.*54G>A, NM_001048221.3:c.295G>A, NM_001048221.2:c.295G>A, NM_001048223.3:c.295G>A, NM_001048223.2:c.295G>A, NR_003189.2:n.683G>A, NM_001197140.2:c.295G>A, NM_001197140.1:c.295G>A, NM_001197139.2:c.295G>A, NM_001197139.1:c.295G>A, NP_001041690.3:p.Glu99Lys, NP_060948.3:p.Glu197Lys, NP_001041686.1:p.Glu99Lys, NP_001041688.1:p.Glu99Lys, NP_001184069.1:p.Glu99Lys, NP_001184068.1:p.Glu99Lys

Select item 14698873394.

rs1469887339 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:45410119 (GRCh38)
20:44038759 (GRCh37)
Canonical SPDI:: NC_000020.11:45410118:A:G
Gene:: DBNDD2 (Varview), SYS1-DBNDD2 (Varview), LOC107985405 (Varview)
Functional Consequence:: coding_sequence_variant,500B_downstream_variant,3_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000546/1 (Korea1K)
HGVS:: NC_000020.11:g.45410119A>G, NC_000020.10:g.44038759A>G, NM_001048226.4:c.*224A>G, NM_001048226.3:c.*224A>G, NM_001048226.2:c.*224A>G, NM_001048225.4:c.465A>G, NM_001048225.3:c.465A>G, NM_001048225.2:c.771A>G, NM_018478.3:c.759A>G, NM_001048222.3:c.*224A>G, NM_001048222.2:c.*224A>G, NM_001048224.3:c.*224A>G, NM_001048224.2:c.*224A>G, NM_001048221.3:c.465A>G, NM_001048221.2:c.465A>G, NM_001048223.3:c.465A>G, NM_001048223.2:c.465A>G, NR_003189.2:n.853A>G, NM_001197140.2:c.465A>G, NM_001197140.1:c.465A>G, NM_001197139.2:c.465A>G, NM_001197139.1:c.465A>G

Select item 14690267185.

rs1469026718 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:45410106 (GRCh38)
20:44038746 (GRCh37)
Canonical SPDI:: NC_000020.11:45410105:G:A
Gene:: DBNDD2 (Varview), SYS1-DBNDD2 (Varview), LOC107985405 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,500B_downstream_variant,3_prime_UTR_variant,non_coding_transcript_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.45410106G>A, NC_000020.10:g.44038746G>A, NM_001048226.4:c.*211G>A, NM_001048226.3:c.*211G>A, NM_001048226.2:c.*211G>A, NM_001048225.4:c.452G>A, NM_001048225.3:c.452G>A, NM_001048225.2:c.758G>A, NM_018478.3:c.746G>A, NM_001048222.3:c.*211G>A, NM_001048222.2:c.*211G>A, NM_001048224.3:c.*211G>A, NM_001048224.2:c.*211G>A, NM_001048221.3:c.452G>A, NM_001048221.2:c.452G>A, NM_001048223.3:c.452G>A, NM_001048223.2:c.452G>A, NR_003189.2:n.840G>A, NM_001197140.2:c.452G>A, NM_001197140.1:c.452G>A, NM_001197139.2:c.452G>A, NM_001197139.1:c.452G>A, NP_001041690.3:p.Gly151Asp, NP_060948.3:p.Gly249Asp, NP_001041686.1:p.Gly151Asp, NP_001041688.1:p.Gly151Asp, NP_001184069.1:p.Gly151Asp, NP_001184068.1:p.Gly151Asp

Select item 14648633946.

rs1464863394 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:45409970 (GRCh38)
20:44038610 (GRCh37)
Canonical SPDI:: NC_000020.11:45409969:C:T
Gene:: DBNDD2 (Varview), SYS1-DBNDD2 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.45409970C>T, NC_000020.10:g.44038610C>T, NM_001048226.4:c.*75C>T, NM_001048226.3:c.*75C>T, NM_001048226.2:c.*75C>T, NM_001048225.4:c.316C>T, NM_001048225.3:c.316C>T, NM_001048225.2:c.622C>T, NM_018478.3:c.610C>T, NM_001048222.3:c.*75C>T, NM_001048222.2:c.*75C>T, NM_001048224.3:c.*75C>T, NM_001048224.2:c.*75C>T, NM_001048221.3:c.316C>T, NM_001048221.2:c.316C>T, NM_001048223.3:c.316C>T, NM_001048223.2:c.316C>T, NR_003189.2:n.704C>T, NM_001197140.2:c.316C>T, NM_001197140.1:c.316C>T, NM_001197139.2:c.316C>T, NM_001197139.1:c.316C>T, NP_001041690.3:p.Pro106Ser, NP_060948.3:p.Pro204Ser, NP_001041686.1:p.Pro106Ser, NP_001041688.1:p.Pro106Ser, NP_001184069.1:p.Pro106Ser, NP_001184068.1:p.Pro106Ser

Select item 14623285007.

rs1462328500 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:45408884 (GRCh38)
20:44037524 (GRCh37)
Canonical SPDI:: NC_000020.11:45408883:G:A
Gene:: DBNDD2 (Varview), SYS1-DBNDD2 (Varview), LOC107985404 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.45408884G>A, NC_000020.10:g.44037524G>A, NM_001048226.4:c.223G>A, NM_001048226.3:c.223G>A, NM_001048226.2:c.529G>A, NM_001048225.4:c.223G>A, NM_001048225.3:c.223G>A, NM_001048225.2:c.529G>A, NM_018478.3:c.517G>A, NM_001048222.3:c.223G>A, NM_001048222.2:c.223G>A, NM_001048224.3:c.223G>A, NM_001048224.2:c.223G>A, NM_001048221.3:c.223G>A, NM_001048221.2:c.223G>A, NM_001048223.3:c.223G>A, NM_001048223.2:c.223G>A, NR_003189.2:n.611G>A, NM_001197140.2:c.223G>A, NM_001197140.1:c.223G>A, NM_001197139.2:c.223G>A, NM_001197139.1:c.223G>A, NP_001041691.3:p.Ala75Thr, NP_001041690.3:p.Ala75Thr, NP_060948.3:p.Ala173Thr, NP_001041687.1:p.Ala75Thr, NP_001041689.1:p.Ala75Thr, NP_001041686.1:p.Ala75Thr, NP_001041688.1:p.Ala75Thr, NP_001184069.1:p.Ala75Thr, NP_001184068.1:p.Ala75Thr

Select item 14549651578.

rs1454965157 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:45408598 (GRCh38)
20:44037238 (GRCh37)
Canonical SPDI:: NC_000020.11:45408597:C:G,NC_000020.11:45408597:C:T
Gene:: DBNDD2 (Varview), SYS1-DBNDD2 (Varview), LOC107985404 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000023/1 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000020.11:g.45408598C>G, NC_000020.11:g.45408598C>T, NC_000020.10:g.44037238C>G, NC_000020.10:g.44037238C>T, NM_001048226.4:c.131C>G, NM_001048226.4:c.131C>T, NM_001048226.3:c.131C>G, NM_001048226.3:c.131C>T, NM_001048226.2:c.437C>G, NM_001048226.2:c.437C>T, NM_001048225.4:c.131C>G, NM_001048225.4:c.131C>T, NM_001048225.3:c.131C>G, NM_001048225.3:c.131C>T, NM_001048225.2:c.437C>G, NM_001048225.2:c.437C>T, NM_018478.3:c.425C>G, NM_018478.3:c.425C>T, NM_001048222.3:c.131C>G, NM_001048222.3:c.131C>T, NM_001048222.2:c.131C>G, NM_001048222.2:c.131C>T, NM_001048224.3:c.131C>G, NM_001048224.3:c.131C>T, NM_001048224.2:c.131C>G, NM_001048224.2:c.131C>T, NM_001048221.3:c.131C>G, NM_001048221.3:c.131C>T, NM_001048221.2:c.131C>G, NM_001048221.2:c.131C>T, NM_001048223.3:c.131C>G, NM_001048223.3:c.131C>T, NM_001048223.2:c.131C>G, NM_001048223.2:c.131C>T, NR_003189.2:n.519C>G, NR_003189.2:n.519C>T, NM_001197140.2:c.131C>G, NM_001197140.2:c.131C>T, NM_001197140.1:c.131C>G, NM_001197140.1:c.131C>T, NM_001197139.2:c.131C>G, NM_001197139.2:c.131C>T, NM_001197139.1:c.131C>G, NM_001197139.1:c.131C>T, NP_001041691.3:p.Ser44Trp, NP_001041691.3:p.Ser44Leu, NP_001041690.3:p.Ser44Trp, NP_001041690.3:p.Ser44Leu, NP_060948.3:p.Ser142Trp, NP_060948.3:p.Ser142Leu, NP_001041687.1:p.Ser44Trp, NP_001041687.1:p.Ser44Leu, NP_001041689.1:p.Ser44Trp, NP_001041689.1:p.Ser44Leu, NP_001041686.1:p.Ser44Trp, NP_001041686.1:p.Ser44Leu, NP_001041688.1:p.Ser44Trp, NP_001041688.1:p.Ser44Leu, NP_001184069.1:p.Ser44Trp, NP_001184069.1:p.Ser44Leu, NP_001184068.1:p.Ser44Trp, NP_001184068.1:p.Ser44Leu

Select item 14470533579.

rs1447053357 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:45410039 (GRCh38)
20:44038679 (GRCh37)
Canonical SPDI:: NC_000020.11:45410038:A:G
Gene:: DBNDD2 (Varview), SYS1-DBNDD2 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000013/2 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.45410039A>G, NC_000020.10:g.44038679A>G, NM_001048226.4:c.*144A>G, NM_001048226.3:c.*144A>G, NM_001048226.2:c.*144A>G, NM_001048225.4:c.385A>G, NM_001048225.3:c.385A>G, NM_001048225.2:c.691A>G, NM_018478.3:c.679A>G, NM_001048222.3:c.*144A>G, NM_001048222.2:c.*144A>G, NM_001048224.3:c.*144A>G, NM_001048224.2:c.*144A>G, NM_001048221.3:c.385A>G, NM_001048221.2:c.385A>G, NM_001048223.3:c.385A>G, NM_001048223.2:c.385A>G, NR_003189.2:n.773A>G, NM_001197140.2:c.385A>G, NM_001197140.1:c.385A>G, NM_001197139.2:c.385A>G, NM_001197139.1:c.385A>G, NP_001041690.3:p.Ser129Gly, NP_060948.3:p.Ser227Gly, NP_001041686.1:p.Ser129Gly, NP_001041688.1:p.Ser129Gly, NP_001184069.1:p.Ser129Gly, NP_001184068.1:p.Ser129Gly

Select item 143240674810.

rs1432406748 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 20:45408824 (GRCh38)
20:44037464 (GRCh37)
Canonical SPDI:: NC_000020.11:45408823:A:C,NC_000020.11:45408823:A:T
Gene:: DBNDD2 (Varview), SYS1-DBNDD2 (Varview), LOC107985404 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.45408824A>C, NC_000020.11:g.45408824A>T, NC_000020.10:g.44037464A>C, NC_000020.10:g.44037464A>T, NM_001048226.4:c.163A>C, NM_001048226.4:c.163A>T, NM_001048226.3:c.163A>C, NM_001048226.3:c.163A>T, NM_001048226.2:c.469A>C, NM_001048226.2:c.469A>T, NM_001048225.4:c.163A>C, NM_001048225.4:c.163A>T, NM_001048225.3:c.163A>C, NM_001048225.3:c.163A>T, NM_001048225.2:c.469A>C, NM_001048225.2:c.469A>T, NM_018478.3:c.457A>C, NM_018478.3:c.457A>T, NM_001048222.3:c.163A>C, NM_001048222.3:c.163A>T, NM_001048222.2:c.163A>C, NM_001048222.2:c.163A>T, NM_001048224.3:c.163A>C, NM_001048224.3:c.163A>T, NM_001048224.2:c.163A>C, NM_001048224.2:c.163A>T, NM_001048221.3:c.163A>C, NM_001048221.3:c.163A>T, NM_001048221.2:c.163A>C, NM_001048221.2:c.163A>T, NM_001048223.3:c.163A>C, NM_001048223.3:c.163A>T, NM_001048223.2:c.163A>C, NM_001048223.2:c.163A>T, NR_003189.2:n.551A>C, NR_003189.2:n.551A>T, NM_001197140.2:c.163A>C, NM_001197140.2:c.163A>T, NM_001197140.1:c.163A>C, NM_001197140.1:c.163A>T, NM_001197139.2:c.163A>C, NM_001197139.2:c.163A>T, NM_001197139.1:c.163A>C, NM_001197139.1:c.163A>T, NP_001041691.3:p.Met55Leu, NP_001041691.3:p.Met55Leu, NP_001041690.3:p.Met55Leu, NP_001041690.3:p.Met55Leu, NP_060948.3:p.Met153Leu, NP_060948.3:p.Met153Leu, NP_001041687.1:p.Met55Leu, NP_001041687.1:p.Met55Leu, NP_001041689.1:p.Met55Leu, NP_001041689.1:p.Met55Leu, NP_001041686.1:p.Met55Leu, NP_001041686.1:p.Met55Leu, NP_001041688.1:p.Met55Leu, NP_001041688.1:p.Met55Leu, NP_001184069.1:p.Met55Leu, NP_001184069.1:p.Met55Leu, NP_001184068.1:p.Met55Leu, NP_001184068.1:p.Met55Leu

Select item 141592184411.

rs1415921844 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:45408860 (GRCh38)
20:44037500 (GRCh37)
Canonical SPDI:: NC_000020.11:45408859:C:T
Gene:: DBNDD2 (Varview), SYS1-DBNDD2 (Varview), LOC107985404 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.45408860C>T, NC_000020.10:g.44037500C>T, NM_001048226.4:c.199C>T, NM_001048226.3:c.199C>T, NM_001048226.2:c.505C>T, NM_001048225.4:c.199C>T, NM_001048225.3:c.199C>T, NM_001048225.2:c.505C>T, NM_018478.3:c.493C>T, NM_001048222.3:c.199C>T, NM_001048222.2:c.199C>T, NM_001048224.3:c.199C>T, NM_001048224.2:c.199C>T, NM_001048221.3:c.199C>T, NM_001048221.2:c.199C>T, NM_001048223.3:c.199C>T, NM_001048223.2:c.199C>T, NR_003189.2:n.587C>T, NM_001197140.2:c.199C>T, NM_001197140.1:c.199C>T, NM_001197139.2:c.199C>T, NM_001197139.1:c.199C>T, NP_001041691.3:p.Leu67Phe, NP_001041690.3:p.Leu67Phe, NP_060948.3:p.Leu165Phe, NP_001041687.1:p.Leu67Phe, NP_001041689.1:p.Leu67Phe, NP_001041686.1:p.Leu67Phe, NP_001041688.1:p.Leu67Phe, NP_001184069.1:p.Leu67Phe, NP_001184068.1:p.Leu67Phe

Select item 140924834112.

rs1409248341 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:45410138 (GRCh38)
20:44038778 (GRCh37)
Canonical SPDI:: NC_000020.11:45410137:T:C
Gene:: DBNDD2 (Varview), SYS1-DBNDD2 (Varview), LOC107985405 (Varview)
Functional Consequence:: stop_lost,terminator_codon_variant,500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.45410138T>C, NC_000020.10:g.44038778T>C, NM_001048226.4:c.*243T>C, NM_001048226.3:c.*243T>C, NM_001048226.2:c.*243T>C, NM_001048225.4:c.484T>C, NM_001048225.3:c.484T>C, NM_001048225.2:c.790T>C, NM_018478.3:c.778T>C, NM_001048222.3:c.*243T>C, NM_001048222.2:c.*243T>C, NM_001048224.3:c.*243T>C, NM_001048224.2:c.*243T>C, NM_001048221.3:c.484T>C, NM_001048221.2:c.484T>C, NM_001048223.3:c.484T>C, NM_001048223.2:c.484T>C, NR_003189.2:n.872T>C, NM_001197140.2:c.484T>C, NM_001197140.1:c.484T>C, NM_001197139.2:c.484T>C, NM_001197139.1:c.484T>C, NP_001041690.3:p.Ter162Gln, NP_060948.3:p.Ter260Gln, NP_001041686.1:p.Ter162Gln, NP_001041688.1:p.Ter162Gln, NP_001184069.1:p.Ter162Gln, NP_001184068.1:p.Ter162Gln

Select item 140772290813.

rs1407722908 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:45410110 (GRCh38)
20:44038750 (GRCh37)
Canonical SPDI:: NC_000020.11:45410109:T:C
Gene:: DBNDD2 (Varview), SYS1-DBNDD2 (Varview), LOC107985405 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,500B_downstream_variant,coding_sequence_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.45410110T>C, NC_000020.10:g.44038750T>C, NM_001048226.4:c.*215T>C, NM_001048226.3:c.*215T>C, NM_001048226.2:c.*215T>C, NM_001048225.4:c.456T>C, NM_001048225.3:c.456T>C, NM_001048225.2:c.762T>C, NM_018478.3:c.750T>C, NM_001048222.3:c.*215T>C, NM_001048222.2:c.*215T>C, NM_001048224.3:c.*215T>C, NM_001048224.2:c.*215T>C, NM_001048221.3:c.456T>C, NM_001048221.2:c.456T>C, NM_001048223.3:c.456T>C, NM_001048223.2:c.456T>C, NR_003189.2:n.844T>C, NM_001197140.2:c.456T>C, NM_001197140.1:c.456T>C, NM_001197139.2:c.456T>C, NM_001197139.1:c.456T>C

Select item 140557631814.

rs1405576318 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:45410089 (GRCh38)
20:44038729 (GRCh37)
Canonical SPDI:: NC_000020.11:45410088:T:C
Gene:: DBNDD2 (Varview), SYS1-DBNDD2 (Varview), LOC107985405 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,500B_downstream_variant,coding_sequence_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0.000028/1 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.45410089T>C, NC_000020.10:g.44038729T>C, NM_001048226.4:c.*194T>C, NM_001048226.3:c.*194T>C, NM_001048226.2:c.*194T>C, NM_001048225.4:c.435T>C, NM_001048225.3:c.435T>C, NM_001048225.2:c.741T>C, NM_018478.3:c.729T>C, NM_001048222.3:c.*194T>C, NM_001048222.2:c.*194T>C, NM_001048224.3:c.*194T>C, NM_001048224.2:c.*194T>C, NM_001048221.3:c.435T>C, NM_001048221.2:c.435T>C, NM_001048223.3:c.435T>C, NM_001048223.2:c.435T>C, NR_003189.2:n.823T>C, NM_001197140.2:c.435T>C, NM_001197140.1:c.435T>C, NM_001197139.2:c.435T>C, NM_001197139.1:c.435T>C

Select item 138840550515.

rs1388405505 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:45408867 (GRCh38)
20:44037507 (GRCh37)
Canonical SPDI:: NC_000020.11:45408866:A:G
Gene:: DBNDD2 (Varview), SYS1-DBNDD2 (Varview), LOC107985404 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_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_000020.11:g.45408867A>G, NC_000020.10:g.44037507A>G, NM_001048226.4:c.206A>G, NM_001048226.3:c.206A>G, NM_001048226.2:c.512A>G, NM_001048225.4:c.206A>G, NM_001048225.3:c.206A>G, NM_001048225.2:c.512A>G, NM_018478.3:c.500A>G, NM_001048222.3:c.206A>G, NM_001048222.2:c.206A>G, NM_001048224.3:c.206A>G, NM_001048224.2:c.206A>G, NM_001048221.3:c.206A>G, NM_001048221.2:c.206A>G, NM_001048223.3:c.206A>G, NM_001048223.2:c.206A>G, NR_003189.2:n.594A>G, NM_001197140.2:c.206A>G, NM_001197140.1:c.206A>G, NM_001197139.2:c.206A>G, NM_001197139.1:c.206A>G, NP_001041691.3:p.Asp69Gly, NP_001041690.3:p.Asp69Gly, NP_060948.3:p.Asp167Gly, NP_001041687.1:p.Asp69Gly, NP_001041689.1:p.Asp69Gly, NP_001041686.1:p.Asp69Gly, NP_001041688.1:p.Asp69Gly, NP_001184069.1:p.Asp69Gly, NP_001184068.1:p.Asp69Gly

Select item 138435333116.

rs1384353331 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:45410067 (GRCh38)
20:44038707 (GRCh37)
Canonical SPDI:: NC_000020.11:45410066:A:G
Gene:: DBNDD2 (Varview), SYS1-DBNDD2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.45410067A>G, NC_000020.10:g.44038707A>G, NM_001048226.4:c.*172A>G, NM_001048226.3:c.*172A>G, NM_001048226.2:c.*172A>G, NM_001048225.4:c.413A>G, NM_001048225.3:c.413A>G, NM_001048225.2:c.719A>G, NM_018478.3:c.707A>G, NM_001048222.3:c.*172A>G, NM_001048222.2:c.*172A>G, NM_001048224.3:c.*172A>G, NM_001048224.2:c.*172A>G, NM_001048221.3:c.413A>G, NM_001048221.2:c.413A>G, NM_001048223.3:c.413A>G, NM_001048223.2:c.413A>G, NR_003189.2:n.801A>G, NM_001197140.2:c.413A>G, NM_001197140.1:c.413A>G, NM_001197139.2:c.413A>G, NM_001197139.1:c.413A>G, NP_001041690.3:p.Asp138Gly, NP_060948.3:p.Asp236Gly, NP_001041686.1:p.Asp138Gly, NP_001041688.1:p.Asp138Gly, NP_001184069.1:p.Asp138Gly, NP_001184068.1:p.Asp138Gly

Select item 136894664717.

rs1368946647 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 20:45408487 (GRCh38)
20:44037127 (GRCh37)
Canonical SPDI:: NC_000020.11:45408486:C:A,NC_000020.11:45408486:C:G,NC_000020.11:45408486:C:T
Gene:: DBNDD2 (Varview), SYS1-DBNDD2 (Varview), LOC107985404 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.45408487C>A, NC_000020.11:g.45408487C>G, NC_000020.11:g.45408487C>T, NC_000020.10:g.44037127C>A, NC_000020.10:g.44037127C>G, NC_000020.10:g.44037127C>T, NM_001048226.4:c.20C>A, NM_001048226.4:c.20C>G, NM_001048226.4:c.20C>T, NM_001048226.3:c.20C>A, NM_001048226.3:c.20C>G, NM_001048226.3:c.20C>T, NM_001048226.2:c.326C>A, NM_001048226.2:c.326C>G, NM_001048226.2:c.326C>T, NM_001048225.4:c.20C>A, NM_001048225.4:c.20C>G, NM_001048225.4:c.20C>T, NM_001048225.3:c.20C>A, NM_001048225.3:c.20C>G, NM_001048225.3:c.20C>T, NM_001048225.2:c.326C>A, NM_001048225.2:c.326C>G, NM_001048225.2:c.326C>T, NM_018478.3:c.314C>A, NM_018478.3:c.314C>G, NM_018478.3:c.314C>T, NM_001048222.3:c.20C>A, NM_001048222.3:c.20C>G, NM_001048222.3:c.20C>T, NM_001048222.2:c.20C>A, NM_001048222.2:c.20C>G, NM_001048222.2:c.20C>T, NM_001048224.3:c.20C>A, NM_001048224.3:c.20C>G, NM_001048224.3:c.20C>T, NM_001048224.2:c.20C>A, NM_001048224.2:c.20C>G, NM_001048224.2:c.20C>T, NM_001048221.3:c.20C>A, NM_001048221.3:c.20C>G, NM_001048221.3:c.20C>T, NM_001048221.2:c.20C>A, NM_001048221.2:c.20C>G, NM_001048221.2:c.20C>T, NM_001048223.3:c.20C>A, NM_001048223.3:c.20C>G, NM_001048223.3:c.20C>T, NM_001048223.2:c.20C>A, NM_001048223.2:c.20C>G, NM_001048223.2:c.20C>T, NR_003189.2:n.408C>A, NR_003189.2:n.408C>G, NR_003189.2:n.408C>T, NM_001197140.2:c.20C>A, NM_001197140.2:c.20C>G, NM_001197140.2:c.20C>T, NM_001197140.1:c.20C>A, NM_001197140.1:c.20C>G, NM_001197140.1:c.20C>T, NM_001197139.2:c.20C>A, NM_001197139.2:c.20C>G, NM_001197139.2:c.20C>T, NM_001197139.1:c.20C>A, NM_001197139.1:c.20C>G, NM_001197139.1:c.20C>T, NP_001041691.3:p.Ala7Asp, NP_001041691.3:p.Ala7Gly, NP_001041691.3:p.Ala7Val, NP_001041690.3:p.Ala7Asp, NP_001041690.3:p.Ala7Gly, NP_001041690.3:p.Ala7Val, NP_060948.3:p.Ala105Asp, NP_060948.3:p.Ala105Gly, NP_060948.3:p.Ala105Val, NP_001041687.1:p.Ala7Asp, NP_001041687.1:p.Ala7Gly, NP_001041687.1:p.Ala7Val, NP_001041689.1:p.Ala7Asp, NP_001041689.1:p.Ala7Gly, NP_001041689.1:p.Ala7Val, NP_001041686.1:p.Ala7Asp, NP_001041686.1:p.Ala7Gly, NP_001041686.1:p.Ala7Val, NP_001041688.1:p.Ala7Asp, NP_001041688.1:p.Ala7Gly, NP_001041688.1:p.Ala7Val, NP_001184069.1:p.Ala7Asp, NP_001184069.1:p.Ala7Gly, NP_001184069.1:p.Ala7Val, NP_001184068.1:p.Ala7Asp, NP_001184068.1:p.Ala7Gly, NP_001184068.1:p.Ala7Val

Select item 136750135718.

rs1367501357 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:45410090 (GRCh38)
20:44038730 (GRCh37)
Canonical SPDI:: NC_000020.11:45410089:G:A
Gene:: DBNDD2 (Varview), SYS1-DBNDD2 (Varview), LOC107985405 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,downstream_transcript_variant,missense_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.45410090G>A, NC_000020.10:g.44038730G>A, NM_001048226.4:c.*195G>A, NM_001048226.3:c.*195G>A, NM_001048226.2:c.*195G>A, NM_001048225.4:c.436G>A, NM_001048225.3:c.436G>A, NM_001048225.2:c.742G>A, NM_018478.3:c.730G>A, NM_001048222.3:c.*195G>A, NM_001048222.2:c.*195G>A, NM_001048224.3:c.*195G>A, NM_001048224.2:c.*195G>A, NM_001048221.3:c.436G>A, NM_001048221.2:c.436G>A, NM_001048223.3:c.436G>A, NM_001048223.2:c.436G>A, NR_003189.2:n.824G>A, NM_001197140.2:c.436G>A, NM_001197140.1:c.436G>A, NM_001197139.2:c.436G>A, NM_001197139.1:c.436G>A, NP_001041690.3:p.Glu146Lys, NP_060948.3:p.Glu244Lys, NP_001041686.1:p.Glu146Lys, NP_001041688.1:p.Glu146Lys, NP_001184069.1:p.Glu146Lys, NP_001184068.1:p.Glu146Lys

Select item 136676312119.

rs1366763121 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:45409943 (GRCh38)
20:44038583 (GRCh37)
Canonical SPDI:: NC_000020.11:45409942:C:T
Gene:: DBNDD2 (Varview), SYS1-DBNDD2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.45409943C>T, NC_000020.10:g.44038583C>T, NM_001048226.4:c.*48C>T, NM_001048226.3:c.*48C>T, NM_001048226.2:c.*48C>T, NM_001048225.4:c.289C>T, NM_001048225.3:c.289C>T, NM_001048225.2:c.595C>T, NM_018478.3:c.583C>T, NM_001048222.3:c.*48C>T, NM_001048222.2:c.*48C>T, NM_001048224.3:c.*48C>T, NM_001048224.2:c.*48C>T, NM_001048221.3:c.289C>T, NM_001048221.2:c.289C>T, NM_001048223.3:c.289C>T, NM_001048223.2:c.289C>T, NR_003189.2:n.677C>T, NM_001197140.2:c.289C>T, NM_001197140.1:c.289C>T, NM_001197139.2:c.289C>T, NM_001197139.1:c.289C>T, NP_001041690.3:p.His97Tyr, NP_060948.3:p.His195Tyr, NP_001041686.1:p.His97Tyr, NP_001041688.1:p.His97Tyr, NP_001184069.1:p.His97Tyr, NP_001184068.1:p.His97Tyr

Select item 136151768420.

rs1361517684 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:45410011 (GRCh38)
20:44038651 (GRCh37)
Canonical SPDI:: NC_000020.11:45410010:C:T
Gene:: DBNDD2 (Varview), SYS1-DBNDD2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000013/2 (GnomAD_exomes)
T=0.000019/5 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000020.11:g.45410011C>T, NC_000020.10:g.44038651C>T, NM_001048226.4:c.*116C>T, NM_001048226.3:c.*116C>T, NM_001048226.2:c.*116C>T, NM_001048225.4:c.357C>T, NM_001048225.3:c.357C>T, NM_001048225.2:c.663C>T, NM_018478.3:c.651C>T, NM_001048222.3:c.*116C>T, NM_001048222.2:c.*116C>T, NM_001048224.3:c.*116C>T, NM_001048224.2:c.*116C>T, NM_001048221.3:c.357C>T, NM_001048221.2:c.357C>T, NM_001048223.3:c.357C>T, NM_001048223.2:c.357C>T, NR_003189.2:n.745C>T, NM_001197140.2:c.357C>T, NM_001197140.1:c.357C>T, NM_001197139.2:c.357C>T, NM_001197139.1:c.357C>T

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