SNP Links for Protein (Select 768010080) - SNP

Links from Protein

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Select item 14905330701.

rs1490533070 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 19:42732881 (GRCh38)
19:43237033 (GRCh37)
Canonical SPDI:: NC_000019.10:42732879:ATA:A
Gene:: PSG3 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.42732881_42732882del, NC_000019.9:g.43237033_43237034del, NM_021016.4:c.612_613del, NM_021016.3:c.612_613del, XM_011527126.3:c.678_679del, XM_011527126.2:c.678_679del, XM_011527126.1:c.678_679del, XM_011527127.3:c.678_679del, XM_011527127.2:c.678_679del, XM_011527127.1:c.678_679del, NP_066296.2:p.Phe205fs, XP_011525428.1:p.Phe227fs, XP_011525429.1:p.Phe227fs

Select item 14883524522.

rs1488352452 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:42740406 (GRCh38)
19:43244558 (GRCh37)
Canonical SPDI:: NC_000019.10:42740405:C:G
Gene:: PSG3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000019.10:g.42740406C>G, NC_000019.9:g.43244558C>G, NM_021016.4:c.-22G>C, NM_021016.3:c.-22G>C, XM_011527126.3:c.45G>C, XM_011527126.2:c.45G>C, XM_011527126.1:c.45G>C, XM_011527127.3:c.45G>C, XM_011527127.2:c.45G>C, XM_011527127.1:c.45G>C, XP_011525428.1:p.Glu15Asp, XP_011525429.1:p.Glu15Asp

Select item 14850952403.

rs1485095240 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:42738958 (GRCh38)
19:43243110 (GRCh37)
Canonical SPDI:: NC_000019.10:42738957:T:C
Gene:: PSG3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.42738958T>C, NC_000019.9:g.43243110T>C, NM_021016.4:c.196A>G, NM_021016.3:c.196A>G, XM_011527126.3:c.262A>G, XM_011527126.2:c.262A>G, XM_011527126.1:c.262A>G, XM_011527127.3:c.262A>G, XM_011527127.2:c.262A>G, XM_011527127.1:c.262A>G, NP_066296.2:p.Ile66Val, XP_011525428.1:p.Ile88Val, XP_011525429.1:p.Ile88Val

Select item 14832880444.

rs1483288044 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:42739015 (GRCh38)
19:43243167 (GRCh37)
Canonical SPDI:: NC_000019.10:42739014:T:C
Gene:: PSG3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00003/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000019.10:g.42739015T>C, NC_000019.9:g.43243167T>C, NM_021016.4:c.139A>G, NM_021016.3:c.139A>G, XM_011527126.3:c.205A>G, XM_011527126.2:c.205A>G, XM_011527126.1:c.205A>G, XM_011527127.3:c.205A>G, XM_011527127.2:c.205A>G, XM_011527127.1:c.205A>G, NP_066296.2:p.Lys47Glu, XP_011525428.1:p.Lys69Glu, XP_011525429.1:p.Lys69Glu

Select item 14800252415.

rs1480025241 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:42738727 (GRCh38)
19:43242879 (GRCh37)
Canonical SPDI:: NC_000019.10:42738726:A:G
Gene:: PSG3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.42738727A>G, NC_000019.9:g.43242879A>G, NM_021016.4:c.427T>C, NM_021016.3:c.427T>C, XM_011527126.3:c.493T>C, XM_011527126.2:c.493T>C, XM_011527126.1:c.493T>C, XM_011527127.3:c.493T>C, XM_011527127.2:c.493T>C, XM_011527127.1:c.493T>C, NP_066296.2:p.Tyr143His, XP_011525428.1:p.Tyr165His, XP_011525429.1:p.Tyr165His

Select item 14785699046.

rs1478569904 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:42733000 (GRCh38)
19:43237152 (GRCh37)
Canonical SPDI:: NC_000019.10:42732999:C:G
Gene:: PSG3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.42733000C>G, NC_000019.9:g.43237152C>G, NM_021016.4:c.493G>C, NM_021016.3:c.493G>C, XM_011527126.3:c.559G>C, XM_011527126.2:c.559G>C, XM_011527126.1:c.559G>C, XM_011527127.3:c.559G>C, XM_011527127.2:c.559G>C, XM_011527127.1:c.559G>C, NP_066296.2:p.Val165Leu, XP_011525428.1:p.Val187Leu, XP_011525429.1:p.Val187Leu

Select item 14775890877.

rs1477589087 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:42738730 (GRCh38)
19:43242882 (GRCh37)
Canonical SPDI:: NC_000019.10:42738729:A:C
Gene:: PSG3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.42738730A>C, NC_000019.9:g.43242882A>C, NM_021016.4:c.424T>G, NM_021016.3:c.424T>G, XM_011527126.3:c.490T>G, XM_011527126.2:c.490T>G, XM_011527126.1:c.490T>G, XM_011527127.3:c.490T>G, XM_011527127.2:c.490T>G, XM_011527127.1:c.490T>G, NP_066296.2:p.Leu142Val, XP_011525428.1:p.Leu164Val, XP_011525429.1:p.Leu164Val

Select item 14743536298.

rs1474353629 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:42738776 (GRCh38)
19:43242928 (GRCh37)
Canonical SPDI:: NC_000019.10:42738775:C:G
Gene:: PSG3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.42738776C>G, NC_000019.9:g.43242928C>G, NM_021016.4:c.378G>C, NM_021016.3:c.378G>C, XM_011527126.3:c.444G>C, XM_011527126.2:c.444G>C, XM_011527126.1:c.444G>C, XM_011527127.3:c.444G>C, XM_011527127.2:c.444G>C, XM_011527127.1:c.444G>C, NP_066296.2:p.Lys126Asn, XP_011525428.1:p.Lys148Asn, XP_011525429.1:p.Lys148Asn

Select item 14658954299.

rs1465895429 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:42738822 (GRCh38)
19:43242974 (GRCh37)
Canonical SPDI:: NC_000019.10:42738821:T:A
Gene:: PSG3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.42738822T>A, NC_000019.9:g.43242974T>A, NM_021016.4:c.332A>T, NM_021016.3:c.332A>T, XM_011527126.3:c.398A>T, XM_011527126.2:c.398A>T, XM_011527126.1:c.398A>T, XM_011527127.3:c.398A>T, XM_011527127.2:c.398A>T, XM_011527127.1:c.398A>T, NP_066296.2:p.Asn111Ile, XP_011525428.1:p.Asn133Ile, XP_011525429.1:p.Asn133Ile

Select item 146388620210.

rs1463886202 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:42738881 (GRCh38)
19:43243033 (GRCh37)
Canonical SPDI:: NC_000019.10:42738880:A:G
Gene:: PSG3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.42738881A>G, NC_000019.9:g.43243033A>G, NM_021016.4:c.273T>C, NM_021016.3:c.273T>C, XM_011527126.3:c.339T>C, XM_011527126.2:c.339T>C, XM_011527126.1:c.339T>C, XM_011527127.3:c.339T>C, XM_011527127.2:c.339T>C, XM_011527127.1:c.339T>C

Select item 146083583411.

rs1460835834 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:42732930 (GRCh38)
19:43237082 (GRCh37)
Canonical SPDI:: NC_000019.10:42732929:G:T
Gene:: PSG3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.42732930G>T, NC_000019.9:g.43237082G>T, NM_021016.4:c.563C>A, NM_021016.3:c.563C>A, XM_011527126.3:c.629C>A, XM_011527126.2:c.629C>A, XM_011527126.1:c.629C>A, XM_011527127.3:c.629C>A, XM_011527127.2:c.629C>A, XM_011527127.1:c.629C>A, NP_066296.2:p.Pro188His, XP_011525428.1:p.Pro210His, XP_011525429.1:p.Pro210His

Select item 145993113812.

rs1459931138 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:42738735 (GRCh38)
19:43242887 (GRCh37)
Canonical SPDI:: NC_000019.10:42738734:A:G
Gene:: PSG3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.42738735A>G, NC_000019.9:g.43242887A>G, NM_021016.4:c.419T>C, NM_021016.3:c.419T>C, XM_011527126.3:c.485T>C, XM_011527126.2:c.485T>C, XM_011527126.1:c.485T>C, XM_011527127.3:c.485T>C, XM_011527127.2:c.485T>C, XM_011527127.1:c.485T>C, NP_066296.2:p.Phe140Ser, XP_011525428.1:p.Phe162Ser, XP_011525429.1:p.Phe162Ser

Select item 145298671113.

rs1452986711 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:42740433 (GRCh38)
19:43244585 (GRCh37)
Canonical SPDI:: NC_000019.10:42740432:C:A
Gene:: PSG3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.42740433C>A, NC_000019.9:g.43244585C>A, NM_021016.4:c.-49G>T, NM_021016.3:c.-49G>T, XM_011527126.3:c.18G>T, XM_011527126.2:c.18G>T, XM_011527126.1:c.18G>T, XM_011527127.3:c.18G>T, XM_011527127.2:c.18G>T, XM_011527127.1:c.18G>T

Select item 145233003714.

rs1452330037 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:42739062 (GRCh38)
19:43243214 (GRCh37)
Canonical SPDI:: NC_000019.10:42739061:G:A
Gene:: PSG3 (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=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.42739062G>A, NC_000019.9:g.43243214G>A, NM_021016.4:c.92C>T, NM_021016.3:c.92C>T, XM_011527126.3:c.158C>T, XM_011527126.2:c.158C>T, XM_011527126.1:c.158C>T, XM_011527127.3:c.158C>T, XM_011527127.2:c.158C>T, XM_011527127.1:c.158C>T, NP_066296.2:p.Pro31Leu, XP_011525428.1:p.Pro53Leu, XP_011525429.1:p.Pro53Leu

Select item 144985999315.

rs1449859993 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTCCTGT>- [Show Flanks]
Chromosome:: 19:42724008 (GRCh38)
19:43228160 (GRCh37)
Canonical SPDI:: NC_000019.10:42724006:TGTCCTGT:T
Gene:: PSG3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.42724008_42724014del, NC_000019.9:g.43228160_43228166del, NM_021016.4:c.1256_1262del, NM_021016.3:c.1256_1262del, XM_011527126.3:c.1043_1049del, XM_011527126.2:c.1043_1049del, XM_011527126.1:c.1043_1049del, XM_011527127.3:c.788_794del, XM_011527127.2:c.788_794del, XM_011527127.1:c.788_794del, NP_066296.2:p.Thr419fs, XP_011525428.1:p.Thr348fs, XP_011525429.1:p.Thr263fs

Select item 144833855816.

rs1448338558 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:42732938 (GRCh38)
19:43237090 (GRCh37)
Canonical SPDI:: NC_000019.10:42732937:C:T
Gene:: PSG3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.42732938C>T, NC_000019.9:g.43237090C>T, NM_021016.4:c.555G>A, NM_021016.3:c.555G>A, XM_011527126.3:c.621G>A, XM_011527126.2:c.621G>A, XM_011527126.1:c.621G>A, XM_011527127.3:c.621G>A, XM_011527127.2:c.621G>A, XM_011527127.1:c.621G>A

Select item 144618074817.

rs1446180748 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:42739077 (GRCh38)
19:43243229 (GRCh37)
Canonical SPDI:: NC_000019.10:42739076:T:C
Gene:: PSG3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.42739077T>C, NC_000019.9:g.43243229T>C, NM_021016.4:c.77A>G, NM_021016.3:c.77A>G, XM_011527126.3:c.143A>G, XM_011527126.2:c.143A>G, XM_011527126.1:c.143A>G, XM_011527127.3:c.143A>G, XM_011527127.2:c.143A>G, XM_011527127.1:c.143A>G, NP_066296.2:p.Asn26Ser, XP_011525428.1:p.Asn48Ser, XP_011525429.1:p.Asn48Ser

Select item 144450089118.

rs1444500891 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:42740325 (GRCh38)
19:43244477 (GRCh37)
Canonical SPDI:: NC_000019.10:42740324:G:A
Gene:: PSG3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.42740325G>A, NC_000019.9:g.43244477G>A, NM_021016.4:c.60C>T, NM_021016.3:c.60C>T, XM_011527126.3:c.126C>T, XM_011527126.2:c.126C>T, XM_011527126.1:c.126C>T, XM_011527127.3:c.126C>T, XM_011527127.2:c.126C>T, XM_011527127.1:c.126C>T

Select item 143447874519.

rs1434478745 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:42732893 (GRCh38)
19:43237045 (GRCh37)
Canonical SPDI:: NC_000019.10:42732892:C:T
Gene:: PSG3 (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_000019.10:g.42732893C>T, NC_000019.9:g.43237045C>T, NM_021016.4:c.600G>A, NM_021016.3:c.600G>A, XM_011527126.3:c.666G>A, XM_011527126.2:c.666G>A, XM_011527126.1:c.666G>A, XM_011527127.3:c.666G>A, XM_011527127.2:c.666G>A, XM_011527127.1:c.666G>A

Select item 143395076720.

rs1433950767 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:42733060 (GRCh38)
19:43237212 (GRCh37)
Canonical SPDI:: NC_000019.10:42733059:C:T
Gene:: PSG3 (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_000019.10:g.42733060C>T, NC_000019.9:g.43237212C>T, NM_021016.4:c.433G>A, NM_021016.3:c.433G>A, XM_011527126.3:c.499G>A, XM_011527126.2:c.499G>A, XM_011527126.1:c.499G>A, XM_011527127.3:c.499G>A, XM_011527127.2:c.499G>A, XM_011527127.1:c.499G>A, NP_066296.2:p.Glu145Lys, XP_011525428.1:p.Glu167Lys, XP_011525429.1:p.Glu167Lys

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