SNP Links for Protein (Select 18543329) - SNP

Links from Protein

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Select item 14706228381.

rs1470622838 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:121888939 (GRCh38)
12:122326845 (GRCh37)
Canonical SPDI:: NC_000012.12:121888938:G:A
Gene:: HPD (Varview), PSMD9 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,non_coding_transcript_variant,coding_sequence_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_000012.12:g.121888939G>A, NC_000012.11:g.122326845G>A, NG_016461.1:g.4673C>T, NM_002813.7:c.83G>A, NM_002813.6:c.83G>A, NM_002813.5:c.83G>A, NR_048555.3:n.150G>A, NR_048555.2:n.209G>A, NR_048555.1:n.209G>A, NM_001261400.3:c.83G>A, NM_001261400.2:c.83G>A, NM_001261400.1:c.83G>A, NP_002804.2:p.Arg28Gln, NP_001248329.1:p.Arg28Gln

Select item 14691020122.

rs1469102012 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:121899787 (GRCh38)
12:122337693 (GRCh37)
Canonical SPDI:: NC_000012.12:121899786:C:T
Gene:: PSMD9 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.121899787C>T, NC_000012.11:g.122337693C>T, NM_002813.7:c.395C>T, NM_002813.6:c.395C>T, NM_002813.5:c.395C>T, NP_002804.2:p.Pro132Leu

Select item 14689398463.

rs1468939846 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:121894741 (GRCh38)
12:122332647 (GRCh37)
Canonical SPDI:: NC_000012.12:121894740:A:G
Gene:: PSMD9 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.121894741A>G, NC_000012.11:g.122332647A>G, NM_002813.7:c.141A>G, NM_002813.6:c.141A>G, NM_002813.5:c.141A>G, NR_048555.3:n.208A>G, NR_048555.2:n.267A>G, NR_048555.1:n.267A>G

Select item 14647024304.

rs1464702430 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:121899726 (GRCh38)
12:122337632 (GRCh37)
Canonical SPDI:: NC_000012.12:121899725:A:G
Gene:: PSMD9 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.121899726A>G, NC_000012.11:g.122337632A>G, NM_002813.7:c.334A>G, NM_002813.6:c.334A>G, NM_002813.5:c.334A>G, NP_002804.2:p.Met112Val

Select item 14608863945.

rs1460886394 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:121903030 (GRCh38)
12:122340936 (GRCh37)
Canonical SPDI:: NC_000012.12:121903029:G:A,NC_000012.12:121903029:G:T
Gene:: PSMD9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.121903030G>A, NC_000012.12:g.121903030G>T, NC_000012.11:g.122340936G>A, NC_000012.11:g.122340936G>T, NM_002813.7:c.478G>A, NM_002813.7:c.478G>T, NM_002813.6:c.478G>A, NM_002813.6:c.478G>T, NM_002813.5:c.478G>A, NM_002813.5:c.478G>T, NR_048555.3:n.333G>A, NR_048555.3:n.333G>T, NR_048555.2:n.392G>A, NR_048555.2:n.392G>T, NR_048555.1:n.392G>A, NR_048555.1:n.392G>T, NM_001261400.3:c.163G>A, NM_001261400.3:c.163G>T, NM_001261400.2:c.163G>A, NM_001261400.2:c.163G>T, NM_001261400.1:c.163G>A, NM_001261400.1:c.163G>T, NP_002804.2:p.Val160Met, NP_002804.2:p.Val160Leu, NP_001248329.1:p.Val55Met, NP_001248329.1:p.Val55Leu

Select item 14545920626.

rs1454592062 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:121899742 (GRCh38)
12:122337648 (GRCh37)
Canonical SPDI:: NC_000012.12:121899741:A:G
Gene:: PSMD9 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_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_000012.12:g.121899742A>G, NC_000012.11:g.122337648A>G, NM_002813.7:c.350A>G, NM_002813.6:c.350A>G, NM_002813.5:c.350A>G, NP_002804.2:p.Lys117Arg

Select item 14544020547.

rs1454402054 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:121899816 (GRCh38)
12:122337722 (GRCh37)
Canonical SPDI:: NC_000012.12:121899815:A:G
Gene:: PSMD9 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.121899816A>G, NC_000012.11:g.122337722A>G, NM_002813.7:c.424A>G, NM_002813.6:c.424A>G, NM_002813.5:c.424A>G, NP_002804.2:p.Ile142Val

Select item 14511963908.

rs1451196390 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:121903097 (GRCh38)
12:122341003 (GRCh37)
Canonical SPDI:: NC_000012.12:121903096:A:G
Gene:: PSMD9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000056/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.121903097A>G, NC_000012.11:g.122341003A>G, NM_002813.7:c.545A>G, NM_002813.6:c.545A>G, NM_002813.5:c.545A>G, NR_048555.3:n.400A>G, NR_048555.2:n.459A>G, NR_048555.1:n.459A>G, NM_001261400.3:c.230A>G, NM_001261400.2:c.230A>G, NM_001261400.1:c.230A>G, NP_002804.2:p.His182Arg, NP_001248329.1:p.His77Arg

Select item 14477289329.

rs1447728932 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:121916311 (GRCh38)
12:122354217 (GRCh37)
Canonical SPDI:: NC_000012.12:121916310:A:G
Gene:: PSMD9 (Varview)
Functional Consequence:: stop_lost,non_coding_transcript_variant,terminator_codon_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.121916311A>G, NC_000012.11:g.122354217A>G, NG_021364.2:g.2755A>G, NM_002813.7:c.672A>G, NM_002813.6:c.672A>G, NM_002813.5:c.672A>G, NR_048555.3:n.527A>G, NR_048555.2:n.586A>G, NR_048555.1:n.586A>G, NM_001261400.3:c.357A>G, NM_001261400.2:c.357A>G, NM_001261400.1:c.357A>G, NP_002804.2:p.Ter224Trp, NP_001248329.1:p.Ter119Trp

Select item 144244244110.

rs1442442441 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:121888985 (GRCh38)
12:122326891 (GRCh37)
Canonical SPDI:: NC_000012.12:121888984:G:A,NC_000012.12:121888984:G:T
Gene:: HPD (Varview), PSMD9 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0./0 (KOREAN)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.121888985G>A, NC_000012.12:g.121888985G>T, NC_000012.11:g.122326891G>A, NC_000012.11:g.122326891G>T, NG_016461.1:g.4627C>T, NG_016461.1:g.4627C>A, NM_002813.7:c.129G>A, NM_002813.7:c.129G>T, NM_002813.6:c.129G>A, NM_002813.6:c.129G>T, NM_002813.5:c.129G>A, NM_002813.5:c.129G>T, NR_048555.3:n.196G>A, NR_048555.3:n.196G>T, NR_048555.2:n.255G>A, NR_048555.2:n.255G>T, NR_048555.1:n.255G>A, NR_048555.1:n.255G>T, NM_001261400.3:c.129G>A, NM_001261400.3:c.129G>T, NM_001261400.2:c.129G>A, NM_001261400.2:c.129G>T, NM_001261400.1:c.129G>A, NM_001261400.1:c.129G>T

Select item 144228664111.

rs1442286641 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:121888964 (GRCh38)
12:122326870 (GRCh37)
Canonical SPDI:: NC_000012.12:121888963:G:T
Gene:: HPD (Varview), PSMD9 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,non_coding_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_000012.12:g.121888964G>T, NC_000012.11:g.122326870G>T, NG_016461.1:g.4648C>A, NM_002813.7:c.108G>T, NM_002813.6:c.108G>T, NM_002813.5:c.108G>T, NR_048555.3:n.175G>T, NR_048555.2:n.234G>T, NR_048555.1:n.234G>T, NM_001261400.3:c.108G>T, NM_001261400.2:c.108G>T, NM_001261400.1:c.108G>T, NP_002804.2:p.Gln36His, NP_001248329.1:p.Gln36His

Select item 143550091512.

rs1435500915 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:121899823 (GRCh38)
12:122337729 (GRCh37)
Canonical SPDI:: NC_000012.12:121899822:C:T
Gene:: PSMD9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.121899823C>T, NC_000012.11:g.122337729C>T, NM_002813.7:c.431C>T, NM_002813.6:c.431C>T, NM_002813.5:c.431C>T, NP_002804.2:p.Pro144Leu

Select item 143025316713.

rs1430253167 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACA>- [Show Flanks]
Chromosome:: 12:121916289 (GRCh38)
12:122354195 (GRCh37)
Canonical SPDI:: NC_000012.12:121916286:CAACA:CA
Gene:: PSMD9 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CA=0.000087/2 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
-=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000012.12:g.121916289_121916291del, NC_000012.11:g.122354195_122354197del, NG_021364.2:g.2733_2735del, NM_002813.7:c.650_652del, NM_002813.6:c.650_652del, NM_002813.5:c.650_652del, NR_048555.3:n.505_507del, NR_048555.2:n.564_566del, NR_048555.1:n.564_566del, NM_001261400.3:c.335_337del, NM_001261400.2:c.335_337del, NM_001261400.1:c.335_337del, NP_002804.2:p.Asn217del, NP_001248329.1:p.Asn112del

Select item 142845498914.

rs1428454989 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:121888978 (GRCh38)
12:122326884 (GRCh37)
Canonical SPDI:: NC_000012.12:121888977:A:G
Gene:: HPD (Varview), PSMD9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.00004/1 (TOMMO)
HGVS:: NC_000012.12:g.121888978A>G, NC_000012.11:g.122326884A>G, NG_016461.1:g.4634T>C, NM_002813.7:c.122A>G, NM_002813.6:c.122A>G, NM_002813.5:c.122A>G, NR_048555.3:n.189A>G, NR_048555.2:n.248A>G, NR_048555.1:n.248A>G, NM_001261400.3:c.122A>G, NM_001261400.2:c.122A>G, NM_001261400.1:c.122A>G, NP_002804.2:p.Tyr41Cys, NP_001248329.1:p.Tyr41Cys

Select item 141008611215.

rs1410086112 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:121888876 (GRCh38)
12:122326782 (GRCh37)
Canonical SPDI:: NC_000012.12:121888875:G:A
Gene:: HPD (Varview), PSMD9 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.121888876G>A, NC_000012.11:g.122326782G>A, NG_016461.1:g.4736C>T, NM_002813.7:c.20G>A, NM_002813.6:c.20G>A, NM_002813.5:c.20G>A, NR_048555.3:n.87G>A, NR_048555.2:n.146G>A, NR_048555.1:n.146G>A, NM_001261400.3:c.20G>A, NM_001261400.2:c.20G>A, NM_001261400.1:c.20G>A, NP_002804.2:p.Arg7Lys, NP_001248329.1:p.Arg7Lys

Select item 140523673016.

rs1405236730 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:121916308 (GRCh38)
12:122354214 (GRCh37)
Canonical SPDI:: NC_000012.12:121916307:A:G
Gene:: PSMD9 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00027/5 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000029/4 (GnomAD)
G=0.000893/4 (Estonian)
HGVS:: NC_000012.12:g.121916308A>G, NC_000012.11:g.122354214A>G, NG_021364.2:g.2752A>G, NM_002813.7:c.669A>G, NM_002813.6:c.669A>G, NM_002813.5:c.669A>G, NR_048555.3:n.524A>G, NR_048555.2:n.583A>G, NR_048555.1:n.583A>G, NM_001261400.3:c.354A>G, NM_001261400.2:c.354A>G, NM_001261400.1:c.354A>G

Select item 140479151717.

rs1404791517 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:121888971 (GRCh38)
12:122326877 (GRCh37)
Canonical SPDI:: NC_000012.12:121888970:G:A
Gene:: HPD (Varview), PSMD9 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant
HGVS:: NC_000012.12:g.121888971G>A, NC_000012.11:g.122326877G>A, NG_016461.1:g.4641C>T, NM_002813.7:c.115G>A, NM_002813.6:c.115G>A, NM_002813.5:c.115G>A, NR_048555.3:n.182G>A, NR_048555.2:n.241G>A, NR_048555.1:n.241G>A, NM_001261400.3:c.115G>A, NM_001261400.2:c.115G>A, NM_001261400.1:c.115G>A, NP_002804.2:p.Ala39Thr, NP_001248329.1:p.Ala39Thr

Select item 140461073518.

rs1404610735 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 12:121899724 (GRCh38)
12:122337630 (GRCh37)
Canonical SPDI:: NC_000012.12:121899723:A:
Gene:: PSMD9 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.121899724del, NC_000012.11:g.122337630del, NM_002813.7:c.332del, NM_002813.6:c.332del, NM_002813.5:c.332del, NP_002804.2:p.Asp111fs

Select item 140298952919.

rs1402989529 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:121894760 (GRCh38)
12:122332666 (GRCh37)
Canonical SPDI:: NC_000012.12:121894759:G:A,NC_000012.12:121894759:G:C
Gene:: PSMD9 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.121894760G>A, NC_000012.12:g.121894760G>C, NC_000012.11:g.122332666G>A, NC_000012.11:g.122332666G>C, NM_002813.7:c.160G>A, NM_002813.7:c.160G>C, NM_002813.6:c.160G>A, NM_002813.6:c.160G>C, NM_002813.5:c.160G>A, NM_002813.5:c.160G>C, NR_048555.3:n.227G>A, NR_048555.3:n.227G>C, NR_048555.2:n.286G>A, NR_048555.2:n.286G>C, NR_048555.1:n.286G>A, NR_048555.1:n.286G>C, NP_002804.2:p.Glu54Lys, NP_002804.2:p.Glu54Gln

Select item 140274495320.

rs1402744953 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:121915910 (GRCh38)
12:122353816 (GRCh37)
Canonical SPDI:: NC_000012.12:121915909:G:A
Gene:: PSMD9 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.121915910G>A, NC_000012.11:g.122353816G>A, NG_021364.2:g.2354G>A, NM_002813.7:c.610G>A, NM_002813.6:c.610G>A, NM_002813.5:c.610G>A, NR_048555.3:n.465G>A, NR_048555.2:n.524G>A, NR_048555.1:n.524G>A, NM_001261400.3:c.295G>A, NM_001261400.2:c.295G>A, NM_001261400.1:c.295G>A, NP_002804.2:p.Val204Ile, NP_001248329.1:p.Val99Ile

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