SNP Links for Protein (Select 308199490) - 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 14815865523.

rs1481586552 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:45406580 (GRCh38)
20:44035220 (GRCh37)
Canonical SPDI:: NC_000020.11:45406579:G:A
Gene:: DBNDD2 (Varview), SYS1-DBNDD2 (Varview), LOC107985404 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.45406580G>A, NC_000020.10:g.44035220G>A, NM_018478.3:c.129G>A, NM_001048224.3:c.-161G>A, NM_001048223.3:c.-161G>A

Select item 14804624154.

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 14763347465.

rs1476334746 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:45406459 (GRCh38)
20:44035099 (GRCh37)
Canonical SPDI:: NC_000020.11:45406458:C:T
Gene:: DBNDD2 (Varview), SYS1-DBNDD2 (Varview), LOC107985404 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,intron_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_000020.11:g.45406459C>T, NC_000020.10:g.44035099C>T, NM_018478.3:c.8C>T, NP_060948.3:p.Ala3Val

Select item 14717271116.

rs1471727111 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:45406507 (GRCh38)
20:44035147 (GRCh37)
Canonical SPDI:: NC_000020.11:45406506:G:T
Gene:: DBNDD2 (Varview), SYS1-DBNDD2 (Varview), LOC107985404 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.45406507G>T, NC_000020.10:g.44035147G>T, NM_018478.3:c.56G>T, NP_060948.3:p.Gly19Val

Select item 14698873397.

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 14690267188.

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 14677933259.

rs1467793325 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:45406474 (GRCh38)
20:44035114 (GRCh37)
Canonical SPDI:: NC_000020.11:45406473:C:A
Gene:: DBNDD2 (Varview), SYS1-DBNDD2 (Varview), LOC107985404 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_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_000020.11:g.45406474C>A, NC_000020.10:g.44035114C>A, NM_018478.3:c.23C>A, NP_060948.3:p.Thr8Asn

Select item 146737166510.

rs1467371665 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCGCCTC>- [Show Flanks]
Chromosome:: 20:45406578 (GRCh38)
20:44035218 (GRCh37)
Canonical SPDI:: NC_000020.11:45406570:CCGCCTCCCGCCTC:CCGCCTC
Gene:: DBNDD2 (Varview), SYS1-DBNDD2 (Varview), LOC107985404 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant,frameshift_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCGCCTCCCGCCTC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000013/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.45406571CCGCCTC[1], NC_000020.10:g.44035211CCGCCTC[1], NM_018478.3:c.127_133del, NP_060948.3:p.Pro43fs

Select item 146486339411.

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 146412109312.

rs1464121093 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:45406538 (GRCh38)
20:44035178 (GRCh37)
Canonical SPDI:: NC_000020.11:45406537:G:C
Gene:: DBNDD2 (Varview), SYS1-DBNDD2 (Varview), LOC107985404 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.45406538G>C, NC_000020.10:g.44035178G>C, NM_018478.3:c.87G>C, NP_060948.3:p.Glu29Asp

Select item 146401514913.

rs1464015149 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:45406535 (GRCh38)
20:44035175 (GRCh37)
Canonical SPDI:: NC_000020.11:45406534:C:T
Gene:: DBNDD2 (Varview), SYS1-DBNDD2 (Varview), LOC107985404 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.45406535C>T, NC_000020.10:g.44035175C>T, NM_018478.3:c.84C>T

Select item 146304178214.

rs1463041782 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:45406522 (GRCh38)
20:44035162 (GRCh37)
Canonical SPDI:: NC_000020.11:45406521:G:A,NC_000020.11:45406521:G:T
Gene:: DBNDD2 (Varview), SYS1-DBNDD2 (Varview), LOC107985404 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.45406522G>A, NC_000020.11:g.45406522G>T, NC_000020.10:g.44035162G>A, NC_000020.10:g.44035162G>T, NM_018478.3:c.71G>A, NM_018478.3:c.71G>T, NP_060948.3:p.Arg24His, NP_060948.3:p.Arg24Leu

Select item 146232850015.

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 145623068816.

rs1456230688 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:45406477 (GRCh38)
20:44035117 (GRCh37)
Canonical SPDI:: NC_000020.11:45406476:C:T
Gene:: DBNDD2 (Varview), SYS1-DBNDD2 (Varview), LOC107985404 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_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_000020.11:g.45406477C>T, NC_000020.10:g.44035117C>T, NM_018478.3:c.26C>T, NP_060948.3:p.Ala9Val

Select item 145496515717.

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 145282235618.

rs1452822356 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:45408426 (GRCh38)
20:44037066 (GRCh37)
Canonical SPDI:: NC_000020.11:45408425:T:C
Gene:: DBNDD2 (Varview), SYS1-DBNDD2 (Varview), LOC107985404 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.45408426T>C, NC_000020.10:g.44037066T>C, NM_001048226.4:c.-42T>C, NM_001048226.3:c.-42T>C, NM_001048226.2:c.265T>C, NM_001048225.4:c.-42T>C, NM_001048225.3:c.-42T>C, NM_001048225.2:c.265T>C, NM_018478.3:c.253T>C, NP_060948.3:p.Cys85Arg

Select item 145007448119.

rs1450074481 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:45406556 (GRCh38)
20:44035196 (GRCh37)
Canonical SPDI:: NC_000020.11:45406555:G:A
Gene:: DBNDD2 (Varview), SYS1-DBNDD2 (Varview), LOC107985404 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant,genic_upstream_transcript_variant
HGVS:: NC_000020.11:g.45406556G>A, NC_000020.10:g.44035196G>A, NM_018478.3:c.105G>A

Select item 144831535120.

rs1448315351 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 20:45406464 (GRCh38)
20:44035104 (GRCh37)
Canonical SPDI:: NC_000020.11:45406463:AA:A
Gene:: DBNDD2 (Varview), SYS1-DBNDD2 (Varview), LOC107985404 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,intron_variant,frameshift_variant,genic_upstream_transcript_variant
HGVS:: NC_000020.11:g.45406465del, NC_000020.10:g.44035105del, NM_018478.3:c.14del, NP_060948.3:p.Asn5fs

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