SNP Links for Protein (Select 28144893) - SNP

Links from Protein

Items: 1 to 20 of 118

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Select item 14798290941.

rs1479829094 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:6466606 (GRCh38)
19:6466617 (GRCh37)
Canonical SPDI:: NC_000019.10:6466605:G:A
Gene:: CRB3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.6466606G>A, NC_000019.9:g.6466617G>A, NG_054762.1:g.20203C>T, NG_029879.1:g.7358G>A, NM_139161.5:c.297G>A, NM_139161.4:c.297G>A, NM_139161.3:c.297G>A, NM_174881.4:c.297G>A, NM_174881.3:c.297G>A, NM_174881.2:c.297G>A, NM_174882.3:c.297G>A, NM_174882.2:c.297G>A, NM_174882.1:c.297G>A

Select item 14715981352.

rs1471598135 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:6466591 (GRCh38)
19:6466602 (GRCh37)
Canonical SPDI:: NC_000019.10:6466590:G:A,NC_000019.10:6466590:G:T
Gene:: CRB3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.00004/1 (TOMMO)
HGVS:: NC_000019.10:g.6466591G>A, NC_000019.10:g.6466591G>T, NC_000019.9:g.6466602G>A, NC_000019.9:g.6466602G>T, NG_054762.1:g.20218C>T, NG_054762.1:g.20218C>A, NG_029879.1:g.7343G>A, NG_029879.1:g.7343G>T, NM_139161.5:c.282G>A, NM_139161.5:c.282G>T, NM_139161.4:c.282G>A, NM_139161.4:c.282G>T, NM_139161.3:c.282G>A, NM_139161.3:c.282G>T, NM_174881.4:c.282G>A, NM_174881.4:c.282G>T, NM_174881.3:c.282G>A, NM_174881.3:c.282G>T, NM_174881.2:c.282G>A, NM_174881.2:c.282G>T, NM_174882.3:c.282G>A, NM_174882.3:c.282G>T, NM_174882.2:c.282G>A, NM_174882.2:c.282G>T, NM_174882.1:c.282G>A, NM_174882.1:c.282G>T

Select item 14710368623.

rs1471036862 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:6466527 (GRCh38)
19:6466538 (GRCh37)
Canonical SPDI:: NC_000019.10:6466526:C:T
Gene:: CRB3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.6466527C>T, NC_000019.9:g.6466538C>T, NG_054762.1:g.20282G>A, NG_029879.1:g.7279C>T, NM_139161.5:c.218C>T, NM_139161.4:c.218C>T, NM_139161.3:c.218C>T, NM_174881.4:c.218C>T, NM_174881.3:c.218C>T, NM_174881.2:c.218C>T, NM_174882.3:c.218C>T, NM_174882.2:c.218C>T, NM_174882.1:c.218C>T, NP_631900.1:p.Ala73Val, NP_777377.1:p.Ala73Val, NP_777378.1:p.Ala73Val

Select item 14684769304.

rs1468476930 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 19:6464763 (GRCh38)
19:6464774 (GRCh37)
Canonical SPDI:: NC_000019.10:6464762:GGGG:GGG
Gene:: CRB3 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.6464766del, NC_000019.9:g.6464777del, NG_029879.1:g.5518del, NM_139161.5:c.65del, NM_139161.4:c.65del, NM_139161.3:c.65del, NM_174881.4:c.65del, NM_174881.3:c.65del, NM_174881.2:c.65del, NM_174882.3:c.65del, NM_174882.2:c.65del, NM_174882.1:c.65del, NP_631900.1:p.Gly22fs, NP_777377.1:p.Gly22fs, NP_777378.1:p.Gly22fs

Select item 14514265935.

rs1451426593 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:6466493 (GRCh38)
19:6466504 (GRCh37)
Canonical SPDI:: NC_000019.10:6466492:G:A
Gene:: CRB3 (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=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.6466493G>A, NC_000019.9:g.6466504G>A, NG_054762.1:g.20316C>T, NG_029879.1:g.7245G>A, NM_139161.5:c.184G>A, NM_139161.4:c.184G>A, NM_139161.3:c.184G>A, NM_174881.4:c.184G>A, NM_174881.3:c.184G>A, NM_174881.2:c.184G>A, NM_174882.3:c.184G>A, NM_174882.2:c.184G>A, NM_174882.1:c.184G>A, NP_631900.1:p.Val62Met, NP_777377.1:p.Val62Met, NP_777378.1:p.Val62Met

Select item 14509979346.

rs1450997934 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:6466489 (GRCh38)
19:6466500 (GRCh37)
Canonical SPDI:: NC_000019.10:6466488:C:A
Gene:: CRB3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000019.10:g.6466489C>A, NC_000019.9:g.6466500C>A, NG_054762.1:g.20320G>T, NG_029879.1:g.7241C>A, NM_139161.5:c.180C>A, NM_139161.4:c.180C>A, NM_139161.3:c.180C>A, NM_174881.4:c.180C>A, NM_174881.3:c.180C>A, NM_174881.2:c.180C>A, NM_174882.3:c.180C>A, NM_174882.2:c.180C>A, NM_174882.1:c.180C>A

Select item 14460932387.

rs1446093238 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:6465587 (GRCh38)
19:6465598 (GRCh37)
Canonical SPDI:: NC_000019.10:6465586:C:T
Gene:: CRB3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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.6465587C>T, NC_000019.9:g.6465598C>T, NG_054762.1:g.21222G>A, NG_029879.1:g.6339C>T, NM_139161.5:c.125C>T, NM_139161.4:c.125C>T, NM_139161.3:c.125C>T, NM_174881.4:c.125C>T, NM_174881.3:c.125C>T, NM_174881.2:c.125C>T, NM_174882.3:c.125C>T, NM_174882.2:c.125C>T, NM_174882.1:c.125C>T, NP_631900.1:p.Ser42Leu, NP_777377.1:p.Ser42Leu, NP_777378.1:p.Ser42Leu

Select item 14421962318.

rs1442196231 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:6466483 (GRCh38)
19:6466494 (GRCh37)
Canonical SPDI:: NC_000019.10:6466482:T:A
Gene:: CRB3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.6466483T>A, NC_000019.9:g.6466494T>A, NG_054762.1:g.20326A>T, NG_029879.1:g.7235T>A, NM_139161.5:c.174T>A, NM_139161.4:c.174T>A, NM_139161.3:c.174T>A, NM_174881.4:c.174T>A, NM_174881.3:c.174T>A, NM_174881.2:c.174T>A, NM_174882.3:c.174T>A, NM_174882.2:c.174T>A, NM_174882.1:c.174T>A

Select item 14200463219.

rs1420046321 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:6464734 (GRCh38)
19:6464745 (GRCh37)
Canonical SPDI:: NC_000019.10:6464733:G:A
Gene:: CRB3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.6464734G>A, NC_000019.9:g.6464745G>A, NG_029879.1:g.5486G>A, NM_139161.5:c.33G>A, NM_139161.4:c.33G>A, NM_139161.3:c.33G>A, NM_174881.4:c.33G>A, NM_174881.3:c.33G>A, NM_174881.2:c.33G>A, NM_174882.3:c.33G>A, NM_174882.2:c.33G>A, NM_174882.1:c.33G>A

Select item 141821806810.

rs1418218068 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:6464769 (GRCh38)
19:6464780 (GRCh37)
Canonical SPDI:: NC_000019.10:6464768:G:A
Gene:: CRB3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
HGVS:: NC_000019.10:g.6464769G>A, NC_000019.9:g.6464780G>A, NG_029879.1:g.5521G>A, NM_139161.5:c.68G>A, NM_139161.4:c.68G>A, NM_139161.3:c.68G>A, NM_174881.4:c.68G>A, NM_174881.3:c.68G>A, NM_174881.2:c.68G>A, NM_174882.3:c.68G>A, NM_174882.2:c.68G>A, NM_174882.1:c.68G>A, NP_631900.1:p.Arg23Gln, NP_777377.1:p.Arg23Gln, NP_777378.1:p.Arg23Gln

Select item 140554501111.

rs1405545011 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:6465567 (GRCh38)
19:6465578 (GRCh37)
Canonical SPDI:: NC_000019.10:6465566:G:A
Gene:: CRB3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.6465567G>A, NC_000019.9:g.6465578G>A, NG_054762.1:g.21242C>T, NG_029879.1:g.6319G>A, NM_139161.5:c.105G>A, NM_139161.4:c.105G>A, NM_139161.3:c.105G>A, NM_174881.4:c.105G>A, NM_174881.3:c.105G>A, NM_174881.2:c.105G>A, NM_174882.3:c.105G>A, NM_174882.2:c.105G>A, NM_174882.1:c.105G>A

Select item 139833618812.

rs1398336188 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:6465596 (GRCh38)
19:6465607 (GRCh37)
Canonical SPDI:: NC_000019.10:6465595:G:A
Gene:: CRB3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.6465596G>A, NC_000019.9:g.6465607G>A, NG_054762.1:g.21213C>T, NG_029879.1:g.6348G>A, NM_139161.5:c.134G>A, NM_139161.4:c.134G>A, NM_139161.3:c.134G>A, NM_174881.4:c.134G>A, NM_174881.3:c.134G>A, NM_174881.2:c.134G>A, NM_174882.3:c.134G>A, NM_174882.2:c.134G>A, NM_174882.1:c.134G>A, NP_631900.1:p.Ser45Asn, NP_777377.1:p.Ser45Asn, NP_777378.1:p.Ser45Asn

Select item 139826491013.

rs1398264910 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:6465593 (GRCh38)
19:6465604 (GRCh37)
Canonical SPDI:: NC_000019.10:6465592:C:A,NC_000019.10:6465592:C:T
Gene:: CRB3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.6465593C>A, NC_000019.10:g.6465593C>T, NC_000019.9:g.6465604C>A, NC_000019.9:g.6465604C>T, NG_054762.1:g.21216G>T, NG_054762.1:g.21216G>A, NG_029879.1:g.6345C>A, NG_029879.1:g.6345C>T, NM_139161.5:c.131C>A, NM_139161.5:c.131C>T, NM_139161.4:c.131C>A, NM_139161.4:c.131C>T, NM_139161.3:c.131C>A, NM_139161.3:c.131C>T, NM_174881.4:c.131C>A, NM_174881.4:c.131C>T, NM_174881.3:c.131C>A, NM_174881.3:c.131C>T, NM_174881.2:c.131C>A, NM_174881.2:c.131C>T, NM_174882.3:c.131C>A, NM_174882.3:c.131C>T, NM_174882.2:c.131C>A, NM_174882.2:c.131C>T, NM_174882.1:c.131C>A, NM_174882.1:c.131C>T, NP_631900.1:p.Thr44Asn, NP_631900.1:p.Thr44Ile, NP_777377.1:p.Thr44Asn, NP_777377.1:p.Thr44Ile, NP_777378.1:p.Thr44Asn, NP_777378.1:p.Thr44Ile

Select item 138311895014.

rs1383118950 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:6466476 (GRCh38)
19:6466487 (GRCh37)
Canonical SPDI:: NC_000019.10:6466475:C:T
Gene:: CRB3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000019.10:g.6466476C>T, NC_000019.9:g.6466487C>T, NG_054762.1:g.20333G>A, NG_029879.1:g.7228C>T, NM_139161.5:c.167C>T, NM_139161.4:c.167C>T, NM_139161.3:c.167C>T, NM_174881.4:c.167C>T, NM_174881.3:c.167C>T, NM_174881.2:c.167C>T, NM_174882.3:c.167C>T, NM_174882.2:c.167C>T, NM_174882.1:c.167C>T, NP_631900.1:p.Ala56Val, NP_777377.1:p.Ala56Val, NP_777378.1:p.Ala56Val

Select item 137741376615.

rs1377413766 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:6466495 (GRCh38)
19:6466506 (GRCh37)
Canonical SPDI:: NC_000019.10:6466494:G:A
Gene:: CRB3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.6466495G>A, NC_000019.9:g.6466506G>A, NG_054762.1:g.20314C>T, NG_029879.1:g.7247G>A, NM_139161.5:c.186G>A, NM_139161.4:c.186G>A, NM_139161.3:c.186G>A, NM_174881.4:c.186G>A, NM_174881.3:c.186G>A, NM_174881.2:c.186G>A, NM_174882.3:c.186G>A, NM_174882.2:c.186G>A, NM_174882.1:c.186G>A

Select item 136718191616.

rs1367181916 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:6465564 (GRCh38)
19:6465575 (GRCh37)
Canonical SPDI:: NC_000019.10:6465563:T:C,NC_000019.10:6465563:T:G
Gene:: CRB3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.6465564T>C, NC_000019.10:g.6465564T>G, NC_000019.9:g.6465575T>C, NC_000019.9:g.6465575T>G, NG_054762.1:g.21245A>G, NG_054762.1:g.21245A>C, NG_029879.1:g.6316T>C, NG_029879.1:g.6316T>G, NM_139161.5:c.102T>C, NM_139161.5:c.102T>G, NM_139161.4:c.102T>C, NM_139161.4:c.102T>G, NM_139161.3:c.102T>C, NM_139161.3:c.102T>G, NM_174881.4:c.102T>C, NM_174881.4:c.102T>G, NM_174881.3:c.102T>C, NM_174881.3:c.102T>G, NM_174881.2:c.102T>C, NM_174881.2:c.102T>G, NM_174882.3:c.102T>C, NM_174882.3:c.102T>G, NM_174882.2:c.102T>C, NM_174882.2:c.102T>G, NM_174882.1:c.102T>C, NM_174882.1:c.102T>G, NP_631900.1:p.Asn34Lys, NP_777377.1:p.Asn34Lys, NP_777378.1:p.Asn34Lys

Select item 136695251917.

rs1366952519 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:6464756 (GRCh38)
19:6464767 (GRCh37)
Canonical SPDI:: NC_000019.10:6464755:G:A
Gene:: CRB3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.6464756G>A, NC_000019.9:g.6464767G>A, NG_029879.1:g.5508G>A, NM_139161.5:c.55G>A, NM_139161.4:c.55G>A, NM_139161.3:c.55G>A, NM_174881.4:c.55G>A, NM_174881.3:c.55G>A, NM_174881.2:c.55G>A, NM_174882.3:c.55G>A, NM_174882.2:c.55G>A, NM_174882.1:c.55G>A, NP_631900.1:p.Ala19Thr, NP_777377.1:p.Ala19Thr, NP_777378.1:p.Ala19Thr

Select item 135585689318.

rs1355856893 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:6466562 (GRCh38)
19:6466573 (GRCh37)
Canonical SPDI:: NC_000019.10:6466561:G:A
Gene:: CRB3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.6466562G>A, NC_000019.9:g.6466573G>A, NG_054762.1:g.20247C>T, NG_029879.1:g.7314G>A, NM_139161.5:c.253G>A, NM_139161.4:c.253G>A, NM_139161.3:c.253G>A, NM_174881.4:c.253G>A, NM_174881.3:c.253G>A, NM_174881.2:c.253G>A, NM_174882.3:c.253G>A, NM_174882.2:c.253G>A, NM_174882.1:c.253G>A, NP_631900.1:p.Glu85Lys, NP_777377.1:p.Glu85Lys, NP_777378.1:p.Glu85Lys

Select item 134938605719.

rs1349386057 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:6465603 (GRCh38)
19:6465614 (GRCh37)
Canonical SPDI:: NC_000019.10:6465602:C:A
Gene:: CRB3 (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.6465603C>A, NC_000019.9:g.6465614C>A, NG_054762.1:g.21206G>T, NG_029879.1:g.6355C>A, NM_139161.5:c.141C>A, NM_139161.4:c.141C>A, NM_139161.3:c.141C>A, NM_174881.4:c.141C>A, NM_174881.3:c.141C>A, NM_174881.2:c.141C>A, NM_174882.3:c.141C>A, NM_174882.2:c.141C>A, NM_174882.1:c.141C>A, NP_631900.1:p.Ser47Arg, NP_777377.1:p.Ser47Arg, NP_777378.1:p.Ser47Arg

Select item 134415664820.

rs1344156648 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:6466480 (GRCh38)
19:6466491 (GRCh37)
Canonical SPDI:: NC_000019.10:6466479:C:T
Gene:: CRB3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.6466480C>T, NC_000019.9:g.6466491C>T, NG_054762.1:g.20329G>A, NG_029879.1:g.7232C>T, NM_139161.5:c.171C>T, NM_139161.4:c.171C>T, NM_139161.3:c.171C>T, NM_174881.4:c.171C>T, NM_174881.3:c.171C>T, NM_174881.2:c.171C>T, NM_174882.3:c.171C>T, NM_174882.2:c.171C>T, NM_174882.1:c.171C>T

dbSNP

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