SNP Links for Protein (Select 42794622) - SNP

Links from Protein

Items: 1 to 20 of 459

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Select item 14884624911.

rs1488462491 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:55621887 (GRCh38)
19:56133253 (GRCh37)
Canonical SPDI:: NC_000019.10:55621886:C:T
Gene:: ZNF784 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.55621887C>T, NC_000019.9:g.56133253C>T, NM_203374.2:c.836G>A, NM_203374.1:c.836G>A, NP_976308.1:p.Gly279Glu

Select item 14884042282.

rs1488404228 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:55622327 (GRCh38)
19:56133693 (GRCh37)
Canonical SPDI:: NC_000019.10:55622326:C:A,NC_000019.10:55622326:C:T
Gene:: ZNF784 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.55622327C>A, NC_000019.10:g.55622327C>T, NC_000019.9:g.56133693C>A, NC_000019.9:g.56133693C>T, NM_203374.2:c.396G>T, NM_203374.2:c.396G>A, NM_203374.1:c.396G>T, NM_203374.1:c.396G>A

Select item 14867631473.

rs1486763147 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:55624520 (GRCh38)
19:56135886 (GRCh37)
Canonical SPDI:: NC_000019.10:55624519:C:G
Gene:: ZNF784 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.55624520C>G, NC_000019.9:g.56135886C>G, NM_203374.2:c.42G>C, NM_203374.1:c.42G>C

Select item 14863067504.

rs1486306750 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:55622313 (GRCh38)
19:56133679 (GRCh37)
Canonical SPDI:: NC_000019.10:55622312:G:A
Gene:: ZNF784 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.55622313G>A, NC_000019.9:g.56133679G>A, NM_203374.2:c.410C>T, NM_203374.1:c.410C>T, NP_976308.1:p.Ala137Val

Select item 14862740945.

rs1486274094 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:55624558 (GRCh38)
19:56135924 (GRCh37)
Canonical SPDI:: NC_000019.10:55624557:C:T
Gene:: ZNF784 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000019.10:g.55624558C>T, NC_000019.9:g.56135924C>T, NM_203374.2:c.4G>A, NM_203374.1:c.4G>A, NP_976308.1:p.Ala2Thr

Select item 14851713956.

rs1485171395 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACCGCTGCGCCC [Show Flanks]
Chromosome:: 19:55622144 (GRCh38)
19:56133511 (GRCh37)
Canonical SPDI:: NC_000019.10:55622144:CCCACCGCTGCGCCC:CCCACCGCTGCGCCCACCGCTGCGCCC
Gene:: ZNF784 (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCACCGCTGCGCCCACCGCTGCGCCC=0./0 (ALFA)
CCCACCGCTGCG=0.000004/1 (TOPMED)
CCCACCGCTGCG=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.55622148_55622159dup, NC_000019.9:g.56133514_56133525dup, NM_203374.2:c.567_578dup, NM_203374.1:c.567_578dup, NP_976308.1:p.Ala190_Gly193dup

Select item 14830855937.

rs1483085593 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:55622419 (GRCh38)
19:56133785 (GRCh37)
Canonical SPDI:: NC_000019.10:55622418:G:A
Gene:: ZNF784 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.55622419G>A, NC_000019.9:g.56133785G>A, NM_203374.2:c.304C>T, NM_203374.1:c.304C>T, NP_976308.1:p.Arg102Trp

Select item 14796285068.

rs1479628506 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:55621779 (GRCh38)
19:56133145 (GRCh37)
Canonical SPDI:: NC_000019.10:55621778:G:A
Gene:: ZNF784 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000019.10:g.55621779G>A, NC_000019.9:g.56133145G>A, NM_203374.2:c.944C>T, NM_203374.1:c.944C>T, NP_976308.1:p.Ala315Val

Select item 14763262059.

rs1476326205 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:55622256 (GRCh38)
19:56133622 (GRCh37)
Canonical SPDI:: NC_000019.10:55622255:C:G
Gene:: ZNF784 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.00003/4 (GnomAD_exomes)
HGVS:: NC_000019.10:g.55622256C>G, NC_000019.9:g.56133622C>G, NM_203374.2:c.467G>C, NM_203374.1:c.467G>C, NP_976308.1:p.Gly156Ala

Select item 147613932910.

rs1476139329 [Homo sapiens]

Variant type:: INS
Alleles:: ->TGTGGTCT [Show Flanks]
Chromosome:: 19:55622073 (GRCh38)
19:56133440 (GRCh37)
Canonical SPDI:: NC_000019.10:55622073::TGTGGTCT
Gene:: ZNF784 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: TGTGGTCT=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.55622073_55622074insTGTGGTCT, NC_000019.9:g.56133439_56133440insTGTGGTCT, NM_203374.2:c.649_650insAGACCACA, NM_203374.1:c.649_650insAGACCACA, NP_976308.1:p.Val217fs

Select item 147519009611.

rs1475190096 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:55621890 (GRCh38)
19:56133256 (GRCh37)
Canonical SPDI:: NC_000019.10:55621889:G:C
Gene:: ZNF784 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.55621890G>C, NC_000019.9:g.56133256G>C, NM_203374.2:c.833C>G, NM_203374.1:c.833C>G, NP_976308.1:p.Pro278Arg

Select item 147403788612.

rs1474037886 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:55622063 (GRCh38)
19:56133429 (GRCh37)
Canonical SPDI:: NC_000019.10:55622062:G:A
Gene:: ZNF784 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.55622063G>A, NC_000019.9:g.56133429G>A, NM_203374.2:c.660C>T, NM_203374.1:c.660C>T

Select item 147206513413.

rs1472065134 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 19:55622504 (GRCh38)
19:56133870 (GRCh37)
Canonical SPDI:: NC_000019.10:55622503:GG:G
Gene:: ZNF784 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GG=0.000111/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.55622505del, NC_000019.9:g.56133871del, NM_203374.2:c.219del, NM_203374.1:c.219del, NP_976308.1:p.Phe74fs

Select item 147140056114.

rs1471400561 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:55622441 (GRCh38)
19:56133807 (GRCh37)
Canonical SPDI:: NC_000019.10:55622440:G:A
Gene:: ZNF784 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.55622441G>A, NC_000019.9:g.56133807G>A, NM_203374.2:c.282C>T, NM_203374.1:c.282C>T

Select item 146858259115.

rs1468582591 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:55622167 (GRCh38)
19:56133533 (GRCh37)
Canonical SPDI:: NC_000019.10:55622166:C:T
Gene:: ZNF784 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.55622167C>T, NC_000019.9:g.56133533C>T, NM_203374.2:c.556G>A, NM_203374.1:c.556G>A, NP_976308.1:p.Ala186Thr

Select item 146766705416.

rs1467667054 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:55621961 (GRCh38)
19:56133327 (GRCh37)
Canonical SPDI:: NC_000019.10:55621960:G:C
Gene:: ZNF784 (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)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.55621961G>C, NC_000019.9:g.56133327G>C, NM_203374.2:c.762C>G, NM_203374.1:c.762C>G, NP_976308.1:p.Cys254Trp

Select item 146714628717.

rs1467146287 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:55621948 (GRCh38)
19:56133314 (GRCh37)
Canonical SPDI:: NC_000019.10:55621947:G:A
Gene:: ZNF784 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.55621948G>A, NC_000019.9:g.56133314G>A, NM_203374.2:c.775C>T, NM_203374.1:c.775C>T, NP_976308.1:p.Arg259Cys

Select item 146627125218.

rs1466271252 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:55622029 (GRCh38)
19:56133395 (GRCh37)
Canonical SPDI:: NC_000019.10:55622028:C:T
Gene:: ZNF784 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.55622029C>T, NC_000019.9:g.56133395C>T, NM_203374.2:c.694G>A, NM_203374.1:c.694G>A, NP_976308.1:p.Gly232Ser

Select item 146561258519.

rs1465612585 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:55622164 (GRCh38)
19:56133530 (GRCh37)
Canonical SPDI:: NC_000019.10:55622163:C:G
Gene:: ZNF784 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.55622164C>G, NC_000019.9:g.56133530C>G, NM_203374.2:c.559G>C, NM_203374.1:c.559G>C, NP_976308.1:p.Ala187Pro

Select item 146236995020.

rs1462369950 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCGCCG>- [Show Flanks]
Chromosome:: 19:55621843 (GRCh38)
19:56133209 (GRCh37)
Canonical SPDI:: NC_000019.10:55621841:GCCGCCG:G
Gene:: ZNF784 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.55621843_55621848del, NC_000019.9:g.56133209_56133214del, NM_203374.2:c.876_881del, NM_203374.1:c.876_881del, NP_976308.1:p.Ala293_Ala294del

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