SNP Links for Protein (Select 73661174) - SNP

Links from Protein

Items: 1 to 20 of 696

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Select item 14888401031.

rs1488840103 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:42910833 (GRCh38)
19:43414985 (GRCh37)
Canonical SPDI:: NC_000019.10:42910832:G:C
Gene:: PSG6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.42910833G>C, NC_000019.9:g.43414985G>C, NM_002782.5:c.453C>G, NM_002782.4:c.453C>G, NM_001031850.4:c.453C>G, NM_001031850.3:c.453C>G, NM_176809.2:c.453C>G, NM_176809.1:c.453C>G

Select item 14867096712.

rs1486709671 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 19:42917786 (GRCh38)
19:43421938 (GRCh37)
Canonical SPDI:: NC_000019.10:42917785:G:C,NC_000019.10:42917785:G:T
Gene:: PSG6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.42917786G>C, NC_000019.10:g.42917786G>T, NC_000019.9:g.43421938G>C, NC_000019.9:g.43421938G>T, NM_002782.5:c.7C>G, NM_002782.5:c.7C>A, NM_002782.4:c.7C>G, NM_002782.4:c.7C>A, NM_001031850.4:c.7C>G, NM_001031850.4:c.7C>A, NM_001031850.3:c.7C>G, NM_001031850.3:c.7C>A, NM_176809.2:c.7C>G, NM_176809.2:c.7C>A, NM_176809.1:c.7C>G, NM_176809.1:c.7C>A, NP_002773.1:p.Pro3Ala, NP_002773.1:p.Pro3Thr, NP_001027020.1:p.Pro3Ala, NP_001027020.1:p.Pro3Thr

Select item 14848252533.

rs1484825253 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:42917730 (GRCh38)
19:43421882 (GRCh37)
Canonical SPDI:: NC_000019.10:42917729:T:C
Gene:: PSG6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.42917730T>C, NC_000019.9:g.43421882T>C, NM_002782.5:c.63A>G, NM_002782.4:c.63A>G, NM_001031850.4:c.63A>G, NM_001031850.3:c.63A>G, NM_176809.2:c.63A>G, NM_176809.1:c.63A>G

Select item 14774094204.

rs1477409420 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:42916126 (GRCh38)
19:43420278 (GRCh37)
Canonical SPDI:: NC_000019.10:42916125:G:A,NC_000019.10:42916125:G:C
Gene:: PSG6 (Varview)
Functional Consequence:: stop_gained,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000043/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.42916126G>A, NC_000019.10:g.42916126G>C, NC_000019.9:g.43420278G>A, NC_000019.9:g.43420278G>C, NM_002782.5:c.426C>T, NM_002782.5:c.426C>G, NM_002782.4:c.426C>T, NM_002782.4:c.426C>G, NM_001031850.4:c.426C>T, NM_001031850.4:c.426C>G, NM_001031850.3:c.426C>T, NM_001031850.3:c.426C>G, NM_176809.2:c.426C>T, NM_176809.2:c.426C>G, NM_176809.1:c.426C>T, NM_176809.1:c.426C>G, NP_002773.1:p.Tyr142Ter, NP_001027020.1:p.Tyr142Ter

Select item 14706025695.

rs1470602569 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:42907118 (GRCh38)
19:43411270 (GRCh37)
Canonical SPDI:: NC_000019.10:42907117:G:A
Gene:: PSG6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.42907118G>A, NC_000019.9:g.43411270G>A, NM_002782.5:c.1044C>T, NM_002782.4:c.1044C>T, NM_001031850.4:c.1044C>T, NM_001031850.3:c.1044C>T, NM_176809.2:c.1044C>T, NM_176809.1:c.1044C>T

Select item 14702565286.

rs1470256528 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:42916464 (GRCh38)
19:43420616 (GRCh37)
Canonical SPDI:: NC_000019.10:42916463:G:A,NC_000019.10:42916463:G:T
Gene:: PSG6 (Varview)
Functional Consequence:: synonymous_variant,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_000019.10:g.42916464G>A, NC_000019.10:g.42916464G>T, NC_000019.9:g.43420616G>A, NC_000019.9:g.43420616G>T, NM_002782.5:c.88C>T, NM_002782.5:c.88C>A, NM_002782.4:c.88C>T, NM_002782.4:c.88C>A, NM_001031850.4:c.88C>T, NM_001031850.4:c.88C>A, NM_001031850.3:c.88C>T, NM_001031850.3:c.88C>A, NM_176809.2:c.88C>T, NM_176809.2:c.88C>A, NM_176809.1:c.88C>T, NM_176809.1:c.88C>A, NP_002773.1:p.Leu30Met, NP_001027020.1:p.Leu30Met

Select item 14697769197.

rs1469776919 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:42906970 (GRCh38)
19:43411122 (GRCh37)
Canonical SPDI:: NC_000019.10:42906969:A:G
Gene:: PSG6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.42906970A>G, NC_000019.9:g.43411122A>G, NM_002782.5:c.1192T>C, NM_002782.4:c.1192T>C, NM_001031850.4:c.1192T>C, NM_001031850.3:c.1192T>C, NM_176809.2:c.1192T>C, NM_176809.1:c.1192T>C, NP_002773.1:p.Ser398Pro, NP_001027020.1:p.Ser398Pro

Select item 14669717068.

rs1466971706 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:42910621 (GRCh38)
19:43414773 (GRCh37)
Canonical SPDI:: NC_000019.10:42910620:A:C
Gene:: PSG6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.42910621A>C, NC_000019.9:g.43414773A>C, NM_002782.5:c.665T>G, NM_002782.4:c.665T>G, NM_001031850.4:c.665T>G, NM_001031850.3:c.665T>G, NM_176809.2:c.665T>G, NM_176809.1:c.665T>G, NP_002773.1:p.Val222Gly, NP_001027020.1:p.Val222Gly

Select item 14668452819.

rs1466845281 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 19:42907052 (GRCh38)
19:43411204 (GRCh37)
Canonical SPDI:: NC_000019.10:42907051:C:
Gene:: PSG6 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.42907052del, NC_000019.9:g.43411204del, NM_002782.5:c.1110del, NM_002782.4:c.1110del, NM_001031850.4:c.1110del, NM_001031850.3:c.1110del, NM_176809.2:c.1110del, NM_176809.1:c.1110del, NP_002773.1:p.Lys370fs, NP_001027020.1:p.Lys370fs

Select item 146524667110.

rs1465246671 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:42907748 (GRCh38)
19:43411900 (GRCh37)
Canonical SPDI:: NC_000019.10:42907747:A:C
Gene:: PSG6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.42907748A>C, NC_000019.9:g.43411900A>C, NM_002782.5:c.813T>G, NM_002782.4:c.813T>G, NM_001031850.4:c.813T>G, NM_001031850.3:c.813T>G, NM_176809.2:c.813T>G, NM_176809.1:c.813T>G, NP_002773.1:p.Ile271Met, NP_001027020.1:p.Ile271Met

Select item 146159259411.

rs1461592594 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:42916279 (GRCh38)
19:43420431 (GRCh37)
Canonical SPDI:: NC_000019.10:42916278:C:T
Gene:: PSG6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000019.10:g.42916279C>T, NC_000019.9:g.43420431C>T, NM_002782.5:c.273G>A, NM_002782.4:c.273G>A, NM_001031850.4:c.273G>A, NM_001031850.3:c.273G>A, NM_176809.2:c.273G>A, NM_176809.1:c.273G>A

Select item 145848947012.

rs1458489470 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:42910603 (GRCh38)
19:43414755 (GRCh37)
Canonical SPDI:: NC_000019.10:42910602:T:C
Gene:: PSG6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.42910603T>C, NC_000019.9:g.43414755T>C, NM_002782.5:c.683A>G, NM_002782.4:c.683A>G, NM_001031850.4:c.683A>G, NM_001031850.3:c.683A>G, NM_176809.2:c.683A>G, NM_176809.1:c.683A>G, NP_002773.1:p.Asp228Gly, NP_001027020.1:p.Asp228Gly

Select item 145822468213.

rs1458224682 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:42910672 (GRCh38)
19:43414824 (GRCh37)
Canonical SPDI:: NC_000019.10:42910671:C:G,NC_000019.10:42910671:C:T
Gene:: PSG6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00006/16 (TOPMED)
G=0.000079/11 (GnomAD)
T=0.000684/2 (KOREAN)
HGVS:: NC_000019.10:g.42910672C>G, NC_000019.10:g.42910672C>T, NC_000019.9:g.43414824C>G, NC_000019.9:g.43414824C>T, NM_002782.5:c.614G>C, NM_002782.5:c.614G>A, NM_002782.4:c.614G>C, NM_002782.4:c.614G>A, NM_001031850.4:c.614G>C, NM_001031850.4:c.614G>A, NM_001031850.3:c.614G>C, NM_001031850.3:c.614G>A, NM_176809.2:c.614G>C, NM_176809.2:c.614G>A, NM_176809.1:c.614G>C, NM_176809.1:c.614G>A, NP_002773.1:p.Gly205Ala, NP_002773.1:p.Gly205Asp, NP_001027020.1:p.Gly205Ala, NP_001027020.1:p.Gly205Asp

Select item 145754863414.

rs1457548634 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:42916201 (GRCh38)
19:43420353 (GRCh37)
Canonical SPDI:: NC_000019.10:42916200:T:A
Gene:: PSG6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.42916201T>A, NC_000019.9:g.43420353T>A, NM_002782.5:c.351A>T, NM_002782.4:c.351A>T, NM_001031850.4:c.351A>T, NM_001031850.3:c.351A>T, NM_176809.2:c.351A>T, NM_176809.1:c.351A>T

Select item 145715909815.

rs1457159098 [Homo sapiens]

Variant type:: INS
Alleles:: ->ATGTAATGTACTACATATGACGTGTACTACATATGAT [Show Flanks]
Chromosome:: 19:42916323 (GRCh38)
19:43420476 (GRCh37)
Canonical SPDI:: NC_000019.10:42916323::ATGTAATGTACTACATATGACGTGTACTACATATGAT
Gene:: PSG6 (Varview)
Functional Consequence:: inframe_indel,stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: ATGTAATGTACTACATATGACGTGTACTACATATGAT=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.42916323_42916324insATGTAATGTACTACATATGACGTGTACTACATATGAT, NC_000019.9:g.43420475_43420476insATGTAATGTACTACATATGACGTGTACTACATATGAT, NM_002782.5:c.228_229insATCATATGTAGTACACGTCATATGTAGTACATTACAT, NM_002782.4:c.228_229insATCATATGTAGTACACGTCATATGTAGTACATTACAT, NM_001031850.4:c.228_229insATCATATGTAGTACACGTCATATGTAGTACATTACAT, NM_001031850.3:c.228_229insATCATATGTAGTACACGTCATATGTAGTACATTACAT, NM_176809.2:c.228_229insATCATATGTAGTACACGTCATATGTAGTACATTACAT, NM_176809.1:c.228_229insATCATATGTAGTACACGTCATATGTAGTACATTACAT, NP_002773.1:p.His77delinsIleIleCysSerThrArgHisMetTer, NP_001027020.1:p.His77delinsIleIleCysSerThrArgHisMetTer

Select item 145541826416.

rs1455418264 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:42906926 (GRCh38)
19:43411078 (GRCh37)
Canonical SPDI:: NC_000019.10:42906925:G:C
Gene:: PSG6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.42906926G>C, NC_000019.9:g.43411078G>C, NM_002782.5:c.1236C>G, NM_002782.4:c.1236C>G, NM_001031850.4:c.1236C>G, NM_001031850.3:c.1236C>G, NM_176809.2:c.1236C>G, NM_176809.1:c.1236C>G

Select item 145472676717.

rs1454726767 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 19:42916485 (GRCh38)
19:43420637 (GRCh37)
Canonical SPDI:: NC_000019.10:42916484:A:G,NC_000019.10:42916484:A:T
Gene:: PSG6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000019.10:g.42916485A>G, NC_000019.10:g.42916485A>T, NC_000019.9:g.43420637A>G, NC_000019.9:g.43420637A>T, NM_002782.5:c.67T>C, NM_002782.5:c.67T>A, NM_002782.4:c.67T>C, NM_002782.4:c.67T>A, NM_001031850.4:c.67T>C, NM_001031850.4:c.67T>A, NM_001031850.3:c.67T>C, NM_001031850.3:c.67T>A, NM_176809.2:c.67T>C, NM_176809.2:c.67T>A, NM_176809.1:c.67T>C, NM_176809.1:c.67T>A, NP_002773.1:p.Ser23Pro, NP_002773.1:p.Ser23Thr, NP_001027020.1:p.Ser23Pro, NP_001027020.1:p.Ser23Thr

Select item 144986989218.

rs1449869892 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:42907681 (GRCh38)
19:43411833 (GRCh37)
Canonical SPDI:: NC_000019.10:42907680:G:A
Gene:: PSG6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.42907681G>A, NC_000019.9:g.43411833G>A, NM_002782.5:c.880C>T, NM_002782.4:c.880C>T, NM_001031850.4:c.880C>T, NM_001031850.3:c.880C>T, NM_176809.2:c.880C>T, NM_176809.1:c.880C>T, NP_002773.1:p.Leu294Phe, NP_001027020.1:p.Leu294Phe

Select item 144812725419.

rs1448127254 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>- [Show Flanks]
Chromosome:: 19:42906998 (GRCh38)
19:43411150 (GRCh37)
Canonical SPDI:: NC_000019.10:42906996:CGC:C
Gene:: PSG6 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.42906998_42906999del, NC_000019.9:g.43411150_43411151del, NM_002782.5:c.1164_1165del, NM_002782.4:c.1164_1165del, NM_001031850.4:c.1164_1165del, NM_001031850.3:c.1164_1165del, NM_176809.2:c.1164_1165del, NM_176809.1:c.1164_1165del, NP_002773.1:p.Ser388fs, NP_001027020.1:p.Ser388fs

Select item 144589256120.

rs1445892561 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:42916425 (GRCh38)
19:43420577 (GRCh37)
Canonical SPDI:: NC_000019.10:42916424:G:T
Gene:: PSG6 (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=0.000008/2 (TOPMED)
T=0.000177/3 (TOMMO)
HGVS:: NC_000019.10:g.42916425G>T, NC_000019.9:g.43420577G>T, NM_002782.5:c.127C>A, NM_002782.4:c.127C>A, NM_001031850.4:c.127C>A, NM_001031850.3:c.127C>A, NM_176809.2:c.127C>A, NM_176809.1:c.127C>A, NP_002773.1:p.Pro43Thr, NP_001027020.1:p.Pro43Thr

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