SNP Links for Protein (Select 1034646508) - SNP

Links from Protein

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Select item 14909332691.

rs1490933269 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:139809736 (GRCh38)
5:139189321 (GRCh37)
Canonical SPDI:: NC_000005.10:139809735:G:T
Gene:: PSD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.139809736G>T, NC_000005.9:g.139189321G>T, NM_032289.4:c.296G>T, NM_032289.3:c.296G>T, NM_032289.2:c.296G>T, XM_017009976.2:c.296G>T, XM_017009976.1:c.296G>T, XM_017009977.2:c.296G>T, XM_017009977.1:c.296G>T, XM_047417829.1:c.296G>T, NP_115665.1:p.Trp99Leu, XP_016865465.1:p.Trp99Leu, XP_016865466.1:p.Trp99Leu, XP_047273785.1:p.Trp99Leu

Select item 14904217562.

rs1490421756 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:139840143 (GRCh38)
5:139219728 (GRCh37)
Canonical SPDI:: NC_000005.10:139840142:G:A
Gene:: PSD2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000005.10:g.139840143G>A, NC_000005.9:g.139219728G>A, NM_032289.4:c.2085G>A, NM_032289.3:c.2085G>A, NM_032289.2:c.2085G>A, XM_017009976.2:c.2085G>A, XM_017009976.1:c.2085G>A, XM_017009977.2:c.2085G>A, XM_017009977.1:c.2085G>A, XM_047417829.1:c.2085G>A

Select item 14881527493.

rs1488152749 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:139813577 (GRCh38)
5:139193162 (GRCh37)
Canonical SPDI:: NC_000005.10:139813576:G:A
Gene:: PSD2 (Varview)
Functional Consequence:: missense_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_000005.10:g.139813577G>A, NC_000005.9:g.139193162G>A, NM_032289.4:c.640G>A, NM_032289.3:c.640G>A, NM_032289.2:c.640G>A, XM_017009976.2:c.640G>A, XM_017009976.1:c.640G>A, XM_017009977.2:c.640G>A, XM_017009977.1:c.640G>A, XM_047417829.1:c.640G>A, NP_115665.1:p.Gly214Ser, XP_016865465.1:p.Gly214Ser, XP_016865466.1:p.Gly214Ser, XP_047273785.1:p.Gly214Ser

Select item 14868875134.

rs1486887513 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:139840155 (GRCh38)
5:139219740 (GRCh37)
Canonical SPDI:: NC_000005.10:139840154:C:G
Gene:: PSD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.139840155C>G, NC_000005.9:g.139219740C>G, NM_032289.4:c.2097C>G, NM_032289.3:c.2097C>G, NM_032289.2:c.2097C>G, XM_017009976.2:c.2097C>G, XM_017009976.1:c.2097C>G, XM_017009977.2:c.2097C>G, XM_017009977.1:c.2097C>G, XM_047417829.1:c.2097C>G, NP_115665.1:p.His699Gln, XP_016865465.1:p.His699Gln, XP_016865466.1:p.His699Gln, XP_047273785.1:p.His699Gln

Select item 14856282425.

rs1485628242 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:139809659 (GRCh38)
5:139189244 (GRCh37)
Canonical SPDI:: NC_000005.10:139809658:T:C
Gene:: PSD2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.139809659T>C, NC_000005.9:g.139189244T>C, NM_032289.4:c.219T>C, NM_032289.3:c.219T>C, NM_032289.2:c.219T>C, XM_017009976.2:c.219T>C, XM_017009976.1:c.219T>C, XM_017009977.2:c.219T>C, XM_017009977.1:c.219T>C, XM_047417829.1:c.219T>C

Select item 14823600316.

rs1482360031 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:139840150 (GRCh38)
5:139219735 (GRCh37)
Canonical SPDI:: NC_000005.10:139840149:G:A
Gene:: PSD2 (Varview)
Functional Consequence:: missense_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_000005.10:g.139840150G>A, NC_000005.9:g.139219735G>A, NM_032289.4:c.2092G>A, NM_032289.3:c.2092G>A, NM_032289.2:c.2092G>A, XM_017009976.2:c.2092G>A, XM_017009976.1:c.2092G>A, XM_017009977.2:c.2092G>A, XM_017009977.1:c.2092G>A, XM_047417829.1:c.2092G>A, NP_115665.1:p.Glu698Lys, XP_016865465.1:p.Glu698Lys, XP_016865466.1:p.Glu698Lys, XP_047273785.1:p.Glu698Lys

Select item 14807858367.

rs1480785836 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:139842272 (GRCh38)
5:139221857 (GRCh37)
Canonical SPDI:: NC_000005.10:139842271:A:G
Gene:: PSD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.139842272A>G, NC_000005.9:g.139221857A>G, NM_032289.4:c.2114A>G, NM_032289.3:c.2114A>G, NM_032289.2:c.2114A>G, XM_017009976.2:c.2114A>G, XM_017009976.1:c.2114A>G, XM_017009977.2:c.2114A>G, XM_017009977.1:c.2114A>G, XM_047417829.1:c.2114A>G, NP_115665.1:p.Lys705Arg, XP_016865465.1:p.Lys705Arg, XP_016865466.1:p.Lys705Arg, XP_047273785.1:p.Lys705Arg

Select item 14805290198.

rs1480529019 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:139840098 (GRCh38)
5:139219683 (GRCh37)
Canonical SPDI:: NC_000005.10:139840097:C:A,NC_000005.10:139840097:C:T
Gene:: PSD2 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.139840098C>A, NC_000005.10:g.139840098C>T, NC_000005.9:g.139219683C>A, NC_000005.9:g.139219683C>T, NM_032289.4:c.2040C>A, NM_032289.4:c.2040C>T, NM_032289.3:c.2040C>A, NM_032289.3:c.2040C>T, NM_032289.2:c.2040C>A, NM_032289.2:c.2040C>T, XM_017009976.2:c.2040C>A, XM_017009976.2:c.2040C>T, XM_017009976.1:c.2040C>A, XM_017009976.1:c.2040C>T, XM_017009977.2:c.2040C>A, XM_017009977.2:c.2040C>T, XM_017009977.1:c.2040C>A, XM_017009977.1:c.2040C>T, XM_047417829.1:c.2040C>A, XM_047417829.1:c.2040C>T, NP_115665.1:p.His680Gln, XP_016865465.1:p.His680Gln, XP_016865466.1:p.His680Gln, XP_047273785.1:p.His680Gln

Select item 14793843959.

rs1479384395 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:139813644 (GRCh38)
5:139193229 (GRCh37)
Canonical SPDI:: NC_000005.10:139813643:G:A,NC_000005.10:139813643:G:C
Gene:: PSD2 (Varview)
Functional Consequence:: missense_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)
C=0.000602/17 (TOMMO)
HGVS:: NC_000005.10:g.139813644G>A, NC_000005.10:g.139813644G>C, NC_000005.9:g.139193229G>A, NC_000005.9:g.139193229G>C, NM_032289.4:c.707G>A, NM_032289.4:c.707G>C, NM_032289.3:c.707G>A, NM_032289.3:c.707G>C, NM_032289.2:c.707G>A, NM_032289.2:c.707G>C, XM_017009976.2:c.707G>A, XM_017009976.2:c.707G>C, XM_017009976.1:c.707G>A, XM_017009976.1:c.707G>C, XM_017009977.2:c.707G>A, XM_017009977.2:c.707G>C, XM_017009977.1:c.707G>A, XM_017009977.1:c.707G>C, XM_047417829.1:c.707G>A, XM_047417829.1:c.707G>C, NP_115665.1:p.Ser236Asn, NP_115665.1:p.Ser236Thr, XP_016865465.1:p.Ser236Asn, XP_016865465.1:p.Ser236Thr, XP_016865466.1:p.Ser236Asn, XP_016865466.1:p.Ser236Thr, XP_047273785.1:p.Ser236Asn, XP_047273785.1:p.Ser236Thr

Select item 147804060410.

rs1478040604 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:139813558 (GRCh38)
5:139193143 (GRCh37)
Canonical SPDI:: NC_000005.10:139813557:G:T
Gene:: PSD2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.139813558G>T, NC_000005.9:g.139193143G>T, NM_032289.4:c.621G>T, NM_032289.3:c.621G>T, NM_032289.2:c.621G>T, XM_017009976.2:c.621G>T, XM_017009976.1:c.621G>T, XM_017009977.2:c.621G>T, XM_017009977.1:c.621G>T, XM_047417829.1:c.621G>T

Select item 147707609211.

rs1477076092 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:139842391 (GRCh38)
5:139221976 (GRCh37)
Canonical SPDI:: NC_000005.10:139842390:A:C
Gene:: PSD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000023/6 (TOPMED)
HGVS:: NC_000005.10:g.139842391A>C, NC_000005.9:g.139221976A>C, NM_032289.4:c.2233A>C, NM_032289.3:c.2233A>C, NM_032289.2:c.2233A>C, XM_017009976.2:c.2233A>C, XM_017009976.1:c.2233A>C, XM_017009977.2:c.2233A>C, XM_017009977.1:c.2233A>C, XM_047417829.1:c.2233A>C, NP_115665.1:p.Lys745Gln, XP_016865465.1:p.Lys745Gln, XP_016865466.1:p.Lys745Gln, XP_047273785.1:p.Lys745Gln

Select item 147700962012.

rs1477009620 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:139813753 (GRCh38)
5:139193338 (GRCh37)
Canonical SPDI:: NC_000005.10:139813752:A:G
Gene:: PSD2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.139813753A>G, NC_000005.9:g.139193338A>G, NM_032289.4:c.816A>G, NM_032289.3:c.816A>G, NM_032289.2:c.816A>G, XM_017009976.2:c.816A>G, XM_017009976.1:c.816A>G, XM_017009977.2:c.816A>G, XM_017009977.1:c.816A>G, XM_047417829.1:c.816A>G

Select item 147338682713.

rs1473386827 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:139833707 (GRCh38)
5:139213292 (GRCh37)
Canonical SPDI:: NC_000005.10:139833706:T:A
Gene:: PSD2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.139833707T>A, NC_000005.9:g.139213292T>A, NM_032289.4:c.1275T>A, NM_032289.3:c.1275T>A, NM_032289.2:c.1275T>A, XM_017009976.2:c.1275T>A, XM_017009976.1:c.1275T>A, XM_017009977.2:c.1275T>A, XM_017009977.1:c.1275T>A, XM_047417829.1:c.1275T>A

Select item 147305470414.

rs1473054704 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:139821962 (GRCh38)
5:139201547 (GRCh37)
Canonical SPDI:: NC_000005.10:139821961:C:T
Gene:: PSD2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.139821962C>T, NC_000005.9:g.139201547C>T, NM_032289.4:c.1167C>T, NM_032289.3:c.1167C>T, NM_032289.2:c.1167C>T, XM_017009976.2:c.1167C>T, XM_017009976.1:c.1167C>T, XM_017009977.2:c.1167C>T, XM_017009977.1:c.1167C>T, XM_047417829.1:c.1167C>T

Select item 147054757215.

rs1470547572 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:139838680 (GRCh38)
5:139218265 (GRCh37)
Canonical SPDI:: NC_000005.10:139838679:A:G
Gene:: PSD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.139838680A>G, NC_000005.9:g.139218265A>G, NM_032289.4:c.1876A>G, NM_032289.3:c.1876A>G, NM_032289.2:c.1876A>G, XM_017009976.2:c.1876A>G, XM_017009976.1:c.1876A>G, XM_017009977.2:c.1876A>G, XM_017009977.1:c.1876A>G, XM_047417829.1:c.1876A>G, NP_115665.1:p.Ile626Val, XP_016865465.1:p.Ile626Val, XP_016865466.1:p.Ile626Val, XP_047273785.1:p.Ile626Val

Select item 146986716516.

rs1469867165 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:139840036 (GRCh38)
5:139219621 (GRCh37)
Canonical SPDI:: NC_000005.10:139840035:C:T
Gene:: PSD2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.139840036C>T, NC_000005.9:g.139219621C>T, NM_032289.4:c.1978C>T, NM_032289.3:c.1978C>T, NM_032289.2:c.1978C>T, XM_017009976.2:c.1978C>T, XM_017009976.1:c.1978C>T, XM_017009977.2:c.1978C>T, XM_017009977.1:c.1978C>T, XM_047417829.1:c.1978C>T

Select item 146954179517.

rs1469541795 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:139809745 (GRCh38)
5:139189330 (GRCh37)
Canonical SPDI:: NC_000005.10:139809744:G:C
Gene:: PSD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.139809745G>C, NC_000005.9:g.139189330G>C, NM_032289.4:c.305G>C, NM_032289.3:c.305G>C, NM_032289.2:c.305G>C, XM_017009976.2:c.305G>C, XM_017009976.1:c.305G>C, XM_017009977.2:c.305G>C, XM_017009977.1:c.305G>C, XM_047417829.1:c.305G>C, NP_115665.1:p.Gly102Ala, XP_016865465.1:p.Gly102Ala, XP_016865466.1:p.Gly102Ala, XP_047273785.1:p.Gly102Ala

Select item 146710661718.

rs1467106617 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:139809615 (GRCh38)
5:139189200 (GRCh37)
Canonical SPDI:: NC_000005.10:139809614:G:A
Gene:: PSD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.139809615G>A, NC_000005.9:g.139189200G>A, NM_032289.4:c.175G>A, NM_032289.3:c.175G>A, NM_032289.2:c.175G>A, XM_017009976.2:c.175G>A, XM_017009976.1:c.175G>A, XM_017009977.2:c.175G>A, XM_017009977.1:c.175G>A, XM_047417829.1:c.175G>A, NP_115665.1:p.Glu59Lys, XP_016865465.1:p.Glu59Lys, XP_016865466.1:p.Glu59Lys, XP_047273785.1:p.Glu59Lys

Select item 146588332419.

rs1465883324 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:139813611 (GRCh38)
5:139193196 (GRCh37)
Canonical SPDI:: NC_000005.10:139813610:C:T
Gene:: PSD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.139813611C>T, NC_000005.9:g.139193196C>T, NM_032289.4:c.674C>T, NM_032289.3:c.674C>T, NM_032289.2:c.674C>T, XM_017009976.2:c.674C>T, XM_017009976.1:c.674C>T, XM_017009977.2:c.674C>T, XM_017009977.1:c.674C>T, XM_047417829.1:c.674C>T, NP_115665.1:p.Ser225Phe, XP_016865465.1:p.Ser225Phe, XP_016865466.1:p.Ser225Phe, XP_047273785.1:p.Ser225Phe

Select item 146540005120.

rs1465400051 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:139809450 (GRCh38)
5:139189035 (GRCh37)
Canonical SPDI:: NC_000005.10:139809449:G:T
Gene:: PSD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000005.10:g.139809450G>T, NC_000005.9:g.139189035G>T, NM_032289.4:c.10G>T, NM_032289.3:c.10G>T, NM_032289.2:c.10G>T, XM_017009976.2:c.10G>T, XM_017009976.1:c.10G>T, XM_017009977.2:c.10G>T, XM_017009977.1:c.10G>T, XM_047417829.1:c.10G>T, NP_115665.1:p.Asp4Tyr, XP_016865465.1:p.Asp4Tyr, XP_016865466.1:p.Asp4Tyr, XP_047273785.1:p.Asp4Tyr

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dbSNP

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