SNP Links for Protein (Select 11068137) - SNP

Links from Protein

Items: 1 to 20 of 421

<< First< Prev

Page of 22

Next >Last >>

Select item 14903584941.

rs1490358494 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:7885735 (GRCh38)
20:7866382 (GRCh37)
Canonical SPDI:: NC_000020.11:7885734:T:C
Gene:: HAO1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.7885735T>C, NC_000020.10:g.7866382T>C, NG_046733.1:g.59712A>G, NM_017545.3:c.943A>G, NM_017545.2:c.943A>G, NP_060015.1:p.Arg315Gly

Select item 14886007632.

rs1488600763 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:7940379 (GRCh38)
20:7921026 (GRCh37)
Canonical SPDI:: NC_000020.11:7940378:G:A
Gene:: HAO1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.7940379G>A, NC_000020.10:g.7921026G>A, NG_046733.1:g.5068C>T, NM_017545.3:c.44C>T, NM_017545.2:c.44C>T, NP_060015.1:p.Ala15Val

Select item 14838609523.

rs1483860952 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:7914327 (GRCh38)
20:7894974 (GRCh37)
Canonical SPDI:: NC_000020.11:7914326:A:G
Gene:: HAO1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.7914327A>G, NC_000020.10:g.7894974A>G, NG_046733.1:g.31120T>C, NM_017545.3:c.382T>C, NM_017545.2:c.382T>C, NP_060015.1:p.Trp128Arg

Select item 14745428574.

rs1474542857 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:7914418 (GRCh38)
20:7895065 (GRCh37)
Canonical SPDI:: NC_000020.11:7914417:G:A
Gene:: HAO1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.7914418G>A, NC_000020.10:g.7895065G>A, NG_046733.1:g.31029C>T, NM_017545.3:c.291C>T, NM_017545.2:c.291C>T

Select item 14727235385.

rs1472723538 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:7934525 (GRCh38)
20:7915172 (GRCh37)
Canonical SPDI:: NC_000020.11:7934524:T:C
Gene:: HAO1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.7934525T>C, NC_000020.10:g.7915172T>C, NG_046733.1:g.10922A>G, NM_017545.3:c.248A>G, NM_017545.2:c.248A>G, NP_060015.1:p.Gln83Arg

Select item 14703907946.

rs1470390794 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:7883661 (GRCh38)
20:7864308 (GRCh37)
Canonical SPDI:: NC_000020.11:7883660:A:G
Gene:: HAO1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.7883661A>G, NC_000020.10:g.7864308A>G, NG_046733.1:g.61786T>C, NM_017545.3:c.1045T>C, NM_017545.2:c.1045T>C, NP_060015.1:p.Cys349Arg

Select item 14668547837.

rs1466854783 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:7906241 (GRCh38)
20:7886888 (GRCh37)
Canonical SPDI:: NC_000020.11:7906240:C:T
Gene:: HAO1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.7906241C>T, NC_000020.10:g.7886888C>T, NG_046733.1:g.39206G>A, NM_017545.3:c.634G>A, NM_017545.2:c.634G>A, NP_060015.1:p.Ala212Thr

Select item 14630263458.

rs1463026345 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:7885574 (GRCh38)
20:7866221 (GRCh37)
Canonical SPDI:: NC_000020.11:7885573:T:C
Gene:: HAO1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.7885574T>C, NC_000020.10:g.7866221T>C, NG_046733.1:g.59873A>G, NM_017545.3:c.989A>G, NM_017545.2:c.989A>G, NP_060015.1:p.Gln330Arg

Select item 14595307059.

rs1459530705 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 20:7934543 (GRCh38)
20:7915190 (GRCh37)
Canonical SPDI:: NC_000020.11:7934542:A:T
Gene:: HAO1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.7934543A>T, NC_000020.10:g.7915190A>T, NG_046733.1:g.10904T>A, NM_017545.3:c.230T>A, NM_017545.2:c.230T>A, NP_060015.1:p.Val77Glu

Select item 145858738510.

rs1458587385 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:7940414 (GRCh38)
20:7921061 (GRCh37)
Canonical SPDI:: NC_000020.11:7940413:G:T
Gene:: HAO1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.7940414G>T, NC_000020.10:g.7921061G>T, NG_046733.1:g.5033C>A, NM_017545.3:c.9C>A, NM_017545.2:c.9C>A

Select item 145716104911.

rs1457161049 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:7885551 (GRCh38)
20:7866198 (GRCh37)
Canonical SPDI:: NC_000020.11:7885550:C:A
Gene:: HAO1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
HGVS:: NC_000020.11:g.7885551C>A, NC_000020.10:g.7866198C>A, NG_046733.1:g.59896G>T, NM_017545.3:c.1012G>T, NM_017545.2:c.1012G>T, NP_060015.1:p.Glu338Ter

Select item 145303070012.

rs1453030700 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:7940410 (GRCh38)
20:7921057 (GRCh37)
Canonical SPDI:: NC_000020.11:7940409:G:A
Gene:: HAO1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.7940410G>A, NC_000020.10:g.7921057G>A, NG_046733.1:g.5037C>T, NM_017545.3:c.13C>T, NM_017545.2:c.13C>T

Select item 145286247113.

rs1452862471 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:7914178 (GRCh38)
20:7894825 (GRCh37)
Canonical SPDI:: NC_000020.11:7914177:C:A
Gene:: HAO1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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.7914178C>A, NC_000020.10:g.7894825C>A, NG_046733.1:g.31269G>T, NM_017545.3:c.531G>T, NM_017545.2:c.531G>T

Select item 144789914514.

rs1447899145 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:7906182 (GRCh38)
20:7886829 (GRCh37)
Canonical SPDI:: NC_000020.11:7906181:C:G
Gene:: HAO1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.7906182C>G, NC_000020.10:g.7886829C>G, NG_046733.1:g.39265G>C, NM_017545.3:c.693G>C, NM_017545.2:c.693G>C, NP_060015.1:p.Leu231Phe

Select item 144422699715.

rs1444226997 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:7885851 (GRCh38)
20:7866498 (GRCh37)
Canonical SPDI:: NC_000020.11:7885850:G:A
Gene:: HAO1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.7885851G>A, NC_000020.10:g.7866498G>A, NG_046733.1:g.59596C>T, NM_017545.3:c.827C>T, NM_017545.2:c.827C>T, NP_060015.1:p.Pro276Leu

Select item 144373851216.

rs1443738512 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:7934578 (GRCh38)
20:7915225 (GRCh37)
Canonical SPDI:: NC_000020.11:7934577:A:G
Gene:: HAO1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000020.11:g.7934578A>G, NC_000020.10:g.7915225A>G, NG_046733.1:g.10869T>C, NM_017545.3:c.195T>C, NM_017545.2:c.195T>C

Select item 144239987417.

rs1442399874 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:7895210 (GRCh38)
20:7875857 (GRCh37)
Canonical SPDI:: NC_000020.11:7895209:C:A
Gene:: HAO1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.7895210C>A, NC_000020.10:g.7875857C>A, NG_046733.1:g.50237G>T, NM_017545.3:c.736G>T, NM_017545.2:c.736G>T, NP_060015.1:p.Glu246Ter

Select item 144005571318.

rs1440055713 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 20:7883653 (GRCh38)
20:7864300 (GRCh37)
Canonical SPDI:: NC_000020.11:7883652:A:G,NC_000020.11:7883652:A:T
Gene:: HAO1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.7883653A>G, NC_000020.11:g.7883653A>T, NC_000020.10:g.7864300A>G, NC_000020.10:g.7864300A>T, NG_046733.1:g.61794T>C, NG_046733.1:g.61794T>A, NM_017545.3:c.1053T>C, NM_017545.3:c.1053T>A, NM_017545.2:c.1053T>C, NM_017545.2:c.1053T>A, NP_060015.1:p.Asn351Lys

Select item 143905444819.

rs1439054448 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 20:7906213 (GRCh38)
20:7886860 (GRCh37)
Canonical SPDI:: NC_000020.11:7906212:T:A,NC_000020.11:7906212:T:C
Gene:: HAO1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.7906213T>A, NC_000020.11:g.7906213T>C, NC_000020.10:g.7886860T>A, NC_000020.10:g.7886860T>C, NG_046733.1:g.39234A>T, NG_046733.1:g.39234A>G, NM_017545.3:c.662A>T, NM_017545.3:c.662A>G, NM_017545.2:c.662A>T, NM_017545.2:c.662A>G, NP_060015.1:p.Asp221Val, NP_060015.1:p.Asp221Gly

Select item 143755943220.

rs1437559432 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 20:7906180 (GRCh38)
20:7886827 (GRCh37)
Canonical SPDI:: NC_000020.11:7906179:GG:G
Gene:: HAO1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.7906181del, NC_000020.10:g.7886828del, NG_046733.1:g.39267del, NM_017545.3:c.695del, NM_017545.2:c.695del, NP_060015.1:p.Pro232fs

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 421

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity