SNP Links for Protein (Select 4580422) - SNP

Links from Protein

Items: 1 to 20 of 858

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Select item 14901179421.

rs1490117942 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:35807055 (GRCh38)
9:35807052 (GRCh37)
Canonical SPDI:: NC_000009.12:35807054:C:G
Gene:: NPR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000009.12:g.35807055C>G, NC_000009.11:g.35807052C>G, NG_009249.1:g.19647C>G, NM_003995.4:c.2552C>G, NM_003995.3:c.2552C>G, NM_001378923.1:c.2561C>G, NG_047141.1:g.10218G>C, NM_000907.2:c.2552C>G, XM_024447561.2:c.1148C>G, XM_024447561.1:c.1148C>G, NM_000907.1:c.2552C>G, XM_047423431.1:c.1157C>G, NP_003986.2:p.Thr851Ser, NP_001365852.1:p.Thr854Ser, XP_024303329.1:p.Thr383Ser, XP_047279387.1:p.Thr386Ser

Select item 14873355132.

rs1487335513 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:35809440 (GRCh38)
9:35809437 (GRCh37)
Canonical SPDI:: NC_000009.12:35809439:C:T
Gene:: NPR2 (Varview), SPAG8 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,downstream_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_000009.12:g.35809440C>T, NC_000009.11:g.35809437C>T, NG_009249.1:g.22032C>T, NM_003995.4:c.3139C>T, NM_003995.3:c.3139C>T, NM_001378923.1:c.3148C>T, NG_047141.1:g.7833G>A, NM_172312.2:c.1336G>A, NM_172312.1:c.1336G>A, NM_000907.2:c.*222C>T, NM_012436.2:c.*789G>A, XM_024447561.2:c.1735C>T, XM_024447561.1:c.1735C>T, NM_000907.1:c.*222C>T, NM_012436.1:c.*790G>A, XM_047423431.1:c.1744C>T, NP_758516.1:p.Gly446Arg

Select item 14850815913.

rs1485081591 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:35809210 (GRCh38)
9:35809207 (GRCh37)
Canonical SPDI:: NC_000009.12:35809209:G:C
Gene:: NPR2 (Varview), SPAG8 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.35809210G>C, NC_000009.11:g.35809207G>C, NG_009249.1:g.21802G>C, NM_003995.4:c.3041G>C, NM_003995.3:c.3041G>C, NM_001378923.1:c.3050G>C, NG_047141.1:g.8063C>G, NM_000907.2:c.*124G>C, XM_024447561.2:c.1637G>C, XM_024447561.1:c.1637G>C, NM_000907.1:c.*124G>C, XM_047423431.1:c.1646G>C, NP_003986.2:p.Cys1014Ser, NP_001365852.1:p.Cys1017Ser, XP_024303329.1:p.Cys546Ser, XP_047279387.1:p.Cys549Ser

Select item 14838497494.

rs1483849749 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:35792430 (GRCh38)
9:35792427 (GRCh37)
Canonical SPDI:: NC_000009.12:35792429:C:T
Gene:: NPR2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.35792430C>T, NC_000009.11:g.35792427C>T, NG_009249.1:g.5022C>T, NM_003995.4:c.22C>T, NM_003995.3:c.22C>T, NM_001378923.1:c.22C>T, NM_000907.2:c.22C>T, NM_000907.1:c.22C>T

Select item 14818623765.

rs1481862376 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:35806142 (GRCh38)
9:35806139 (GRCh37)
Canonical SPDI:: NC_000009.12:35806141:C:T
Gene:: NPR2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000198/7 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.00003/8 (TOPMED)
HGVS:: NC_000009.12:g.35806142C>T, NC_000009.11:g.35806139C>T, NG_009249.1:g.18734C>T, NM_003995.4:c.2281C>T, NM_003995.3:c.2281C>T, NM_001378923.1:c.2290C>T, NG_047141.1:g.11131G>A, NM_000907.2:c.2281C>T, XM_024447561.2:c.877C>T, XM_024447561.1:c.877C>T, NM_000907.1:c.2281C>T, XM_047423431.1:c.886C>T

Select item 14812114146.

rs1481211414 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:35802578 (GRCh38)
9:35802575 (GRCh37)
Canonical SPDI:: NC_000009.12:35802577:A:G
Gene:: NPR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.35802578A>G, NC_000009.11:g.35802575A>G, NG_009249.1:g.15170A>G, NM_003995.4:c.1786A>G, NM_003995.3:c.1786A>G, NM_001378923.1:c.1795A>G, NM_000907.2:c.1786A>G, XM_024447561.2:c.382A>G, XM_024447561.1:c.382A>G, NM_000907.1:c.1786A>G, XM_047423431.1:c.391A>G, NP_003986.2:p.Thr596Ala, NP_001365852.1:p.Thr599Ala, XP_024303329.1:p.Thr128Ala, XP_047279387.1:p.Thr131Ala

Select item 14810732487.

rs1481073248 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:35799640 (GRCh38)
9:35799637 (GRCh37)
Canonical SPDI:: NC_000009.12:35799639:G:A
Gene:: NPR2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000009.12:g.35799640G>A, NC_000009.11:g.35799637G>A, NG_009249.1:g.12232G>A, NM_003995.4:c.896G>A, NM_003995.3:c.896G>A, NM_001378923.1:c.896G>A, NM_000907.2:c.896G>A, NM_000907.1:c.896G>A, NP_003986.2:p.Arg299Gln, NP_001365852.1:p.Arg299Gln

Select item 14808322808.

rs1480832280 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:35805554 (GRCh38)
9:35805551 (GRCh37)
Canonical SPDI:: NC_000009.12:35805553:G:A
Gene:: NPR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.35805554G>A, NC_000009.11:g.35805551G>A, NG_009249.1:g.18146G>A, NM_003995.4:c.1931G>A, NM_003995.3:c.1931G>A, NM_001378923.1:c.1940G>A, NM_000907.2:c.1931G>A, XM_024447561.2:c.527G>A, XM_024447561.1:c.527G>A, NM_000907.1:c.1931G>A, XM_047423431.1:c.536G>A, NP_003986.2:p.Ser644Asn, NP_001365852.1:p.Ser647Asn, XP_024303329.1:p.Ser176Asn, XP_047279387.1:p.Ser179Asn

Select item 14805878699.

rs1480587869 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:35801086 (GRCh38)
9:35801083 (GRCh37)
Canonical SPDI:: NC_000009.12:35801085:G:A
Gene:: NPR2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.35801086G>A, NC_000009.11:g.35801083G>A, NG_009249.1:g.13678G>A, NM_003995.4:c.1368G>A, NM_003995.3:c.1368G>A, NM_001378923.1:c.1368G>A, NM_000907.2:c.1368G>A, XM_024447561.2:c.-37G>A, XM_024447561.1:c.-37G>A, NM_000907.1:c.1368G>A, XM_047423431.1:c.-37G>A

Select item 148052528810.

rs1480525288 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:35802565 (GRCh38)
9:35802562 (GRCh37)
Canonical SPDI:: NC_000009.12:35802564:C:A
Gene:: NPR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.35802565C>A, NC_000009.11:g.35802562C>A, NG_009249.1:g.15157C>A, NM_003995.4:c.1773C>A, NM_003995.3:c.1773C>A, NM_001378923.1:c.1782C>A, NM_000907.2:c.1773C>A, XM_024447561.2:c.369C>A, XM_024447561.1:c.369C>A, NM_000907.1:c.1773C>A, XM_047423431.1:c.378C>A, NP_003986.2:p.Asn591Lys, NP_001365852.1:p.Asn594Lys, XP_024303329.1:p.Asn123Lys, XP_047279387.1:p.Asn126Lys

Select item 148044427111.

rs1480444271 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:35805884 (GRCh38)
9:35805881 (GRCh37)
Canonical SPDI:: NC_000009.12:35805883:G:C
Gene:: NPR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.35805884G>C, NC_000009.11:g.35805881G>C, NG_009249.1:g.18476G>C, NM_003995.4:c.2102G>C, NM_003995.3:c.2102G>C, NM_001378923.1:c.2111G>C, NG_047141.1:g.11389C>G, NM_000907.2:c.2102G>C, XM_024447561.2:c.698G>C, XM_024447561.1:c.698G>C, NM_000907.1:c.2102G>C, XM_047423431.1:c.707G>C, NP_003986.2:p.Gly701Ala, NP_001365852.1:p.Gly704Ala, XP_024303329.1:p.Gly233Ala, XP_047279387.1:p.Gly236Ala

Select item 148011083912.

rs1480110839 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:35805661 (GRCh38)
9:35805658 (GRCh37)
Canonical SPDI:: NC_000009.12:35805660:C:T
Gene:: NPR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.35805661C>T, NC_000009.11:g.35805658C>T, NG_009249.1:g.18253C>T, NM_003995.4:c.2038C>T, NM_003995.3:c.2038C>T, NM_001378923.1:c.2047C>T, NM_000907.2:c.2038C>T, XM_024447561.2:c.634C>T, XM_024447561.1:c.634C>T, NM_000907.1:c.2038C>T, XM_047423431.1:c.643C>T, NP_003986.2:p.Leu680Phe, NP_001365852.1:p.Leu683Phe, XP_024303329.1:p.Leu212Phe, XP_047279387.1:p.Leu215Phe

Select item 147864863213.

rs1478648632 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:35808564 (GRCh38)
9:35808561 (GRCh37)
Canonical SPDI:: NC_000009.12:35808563:G:A
Gene:: NPR2 (Varview), SPAG8 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.35808564G>A, NC_000009.11:g.35808561G>A, NG_009249.1:g.21156G>A, NM_003995.4:c.2768G>A, NM_003995.3:c.2768G>A, NM_001378923.1:c.2777G>A, NG_047141.1:g.8709C>T, NM_000907.2:c.2768G>A, XM_024447561.2:c.1364G>A, XM_024447561.1:c.1364G>A, NM_000907.1:c.2768G>A, XM_047423431.1:c.1373G>A, NP_003986.2:p.Gly923Asp, NP_001365852.1:p.Gly926Asp, XP_024303329.1:p.Gly455Asp, XP_047279387.1:p.Gly458Asp

Select item 147797933414.

rs1477979334 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:35807075 (GRCh38)
9:35807072 (GRCh37)
Canonical SPDI:: NC_000009.12:35807074:G:A
Gene:: NPR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: A=0.000223/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.35807075G>A, NC_000009.11:g.35807072G>A, NG_009249.1:g.19667G>A, NM_003995.4:c.2572G>A, NM_003995.3:c.2572G>A, NM_001378923.1:c.2581G>A, NG_047141.1:g.10198C>T, NM_000907.2:c.2572G>A, XM_024447561.2:c.1168G>A, XM_024447561.1:c.1168G>A, NM_000907.1:c.2572G>A, XM_047423431.1:c.1177G>A, NP_003986.2:p.Asp858Asn, NP_001365852.1:p.Asp861Asn, XP_024303329.1:p.Asp390Asn, XP_047279387.1:p.Asp393Asn

Select item 147754463215.

rs1477544632 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:35800451 (GRCh38)
9:35800448 (GRCh37)
Canonical SPDI:: NC_000009.12:35800450:G:A
Gene:: NPR2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000009.12:g.35800451G>A, NC_000009.11:g.35800448G>A, NG_009249.1:g.13043G>A, NM_003995.4:c.1186G>A, NM_003995.3:c.1186G>A, NM_001378923.1:c.1186G>A, NM_000907.2:c.1186G>A, NM_000907.1:c.1186G>A, NP_003986.2:p.Ala396Thr, NP_001365852.1:p.Ala396Thr

Select item 147288042116.

rs1472880421 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:35808793 (GRCh38)
9:35808790 (GRCh37)
Canonical SPDI:: NC_000009.12:35808792:C:T
Gene:: NPR2 (Varview), SPAG8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_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_000009.12:g.35808793C>T, NC_000009.11:g.35808790C>T, NG_009249.1:g.21385C>T, NM_003995.4:c.2926C>T, NM_003995.3:c.2926C>T, NM_001378923.1:c.2935C>T, NG_047141.1:g.8480G>A, NM_000907.2:c.*9C>T, XM_024447561.2:c.1522C>T, XM_024447561.1:c.1522C>T, NM_000907.1:c.*9C>T, XM_047423431.1:c.1531C>T, NP_003986.2:p.Arg976Cys, NP_001365852.1:p.Arg979Cys, XP_024303329.1:p.Arg508Cys, XP_047279387.1:p.Arg511Cys

Select item 147166785517.

rs1471667855 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:35806476 (GRCh38)
9:35806473 (GRCh37)
Canonical SPDI:: NC_000009.12:35806475:C:T
Gene:: NPR2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.35806476C>T, NC_000009.11:g.35806473C>T, NG_009249.1:g.19068C>T, NM_003995.4:c.2457C>T, NM_003995.3:c.2457C>T, NM_001378923.1:c.2466C>T, NG_047141.1:g.10797G>A, NM_000907.2:c.2457C>T, XM_024447561.2:c.1053C>T, XM_024447561.1:c.1053C>T, NM_000907.1:c.2457C>T, XM_047423431.1:c.1062C>T

Select item 147152629918.

rs1471526299 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:35800112 (GRCh38)
9:35800109 (GRCh37)
Canonical SPDI:: NC_000009.12:35800111:G:A
Gene:: NPR2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.35800112G>A, NC_000009.11:g.35800109G>A, NG_009249.1:g.12704G>A, NM_003995.4:c.1078G>A, NM_003995.3:c.1078G>A, NM_001378923.1:c.1078G>A, NM_000907.2:c.1078G>A, NM_000907.1:c.1078G>A, NP_003986.2:p.Asp360Asn, NP_001365852.1:p.Asp360Asn

Select item 147075764419.

rs1470757644 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:35808573 (GRCh38)
9:35808570 (GRCh37)
Canonical SPDI:: NC_000009.12:35808572:A:G
Gene:: NPR2 (Varview), SPAG8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: G=0.00007/1 (ALFA)
HGVS:: NC_000009.12:g.35808573A>G, NC_000009.11:g.35808570A>G, NG_009249.1:g.21165A>G, NM_003995.4:c.2777A>G, NM_003995.3:c.2777A>G, NM_001378923.1:c.2786A>G, NG_047141.1:g.8700T>C, NM_000907.2:c.2777A>G, XM_024447561.2:c.1373A>G, XM_024447561.1:c.1373A>G, NM_000907.1:c.2777A>G, XM_047423431.1:c.1382A>G, NP_003986.2:p.His926Arg, NP_001365852.1:p.His929Arg, XP_024303329.1:p.His458Arg, XP_047279387.1:p.His461Arg

Select item 147069933820.

rs1470699338 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:35802509 (GRCh38)
9:35802506 (GRCh37)
Canonical SPDI:: NC_000009.12:35802508:G:C
Gene:: NPR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.35802509G>C, NC_000009.11:g.35802506G>C, NG_009249.1:g.15101G>C, NM_003995.4:c.1717G>C, NM_003995.3:c.1717G>C, NM_001378923.1:c.1726G>C, NM_000907.2:c.1717G>C, XM_024447561.2:c.313G>C, XM_024447561.1:c.313G>C, NM_000907.1:c.1717G>C, XM_047423431.1:c.322G>C, NP_003986.2:p.Asp573His, NP_001365852.1:p.Asp576His, XP_024303329.1:p.Asp105His, XP_047279387.1:p.Asp108His

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dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

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