SNP Links for Protein (Select 71896667) - SNP

Links from Protein

Items: 1 to 20 of 253

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Select item 14898253891.

rs1489825389 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 6:122997996 (GRCh38)
6:123319141 (GRCh37)
Canonical SPDI:: NC_000006.12:122997995:G:A,NC_000006.12:122997995:G:C,NC_000006.12:122997995:G:T
Gene:: CLVS2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.122997996G>A, NC_000006.12:g.122997996G>C, NC_000006.12:g.122997996G>T, NC_000006.11:g.123319141G>A, NC_000006.11:g.123319141G>C, NC_000006.11:g.123319141G>T, NM_001010852.4:c.219G>A, NM_001010852.4:c.219G>C, NM_001010852.4:c.219G>T, NM_001010852.3:c.219G>A, NM_001010852.3:c.219G>C, NM_001010852.3:c.219G>T, NM_001010852.2:c.219G>A, NM_001010852.2:c.219G>C, NM_001010852.2:c.219G>T, XM_047418196.1:c.219G>A, XM_047418196.1:c.219G>C, XM_047418196.1:c.219G>T

Select item 14895436052.

rs1489543605 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:122997881 (GRCh38)
6:123319026 (GRCh37)
Canonical SPDI:: NC_000006.12:122997880:G:A
Gene:: CLVS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.122997881G>A, NC_000006.11:g.123319026G>A, NM_001010852.4:c.104G>A, NM_001010852.3:c.104G>A, NM_001010852.2:c.104G>A, XM_047418196.1:c.104G>A, NP_001010852.2:p.Arg35Lys, XP_047274152.1:p.Arg35Lys

Select item 14854401213.

rs1485440121 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:123055923 (GRCh38)
6:123377068 (GRCh37)
Canonical SPDI:: NC_000006.12:123055922:C:A
Gene:: CLVS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.123055923C>A, NC_000006.11:g.123377068C>A, NM_001010852.4:c.793C>A, NM_001010852.3:c.793C>A, NM_001010852.2:c.793C>A, NP_001010852.2:p.Leu265Met

Select item 14830031014.

rs1483003101 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:123063725 (GRCh38)
6:123384870 (GRCh37)
Canonical SPDI:: NC_000006.12:123063724:G:T
Gene:: CLVS2 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant
HGVS:: NC_000006.12:g.123063725G>T, NC_000006.11:g.123384870G>T, NM_001010852.4:c.948G>T, NM_001010852.3:c.948G>T, NM_001010852.2:c.948G>T, XM_047418196.1:c.*7G>T, NP_001010852.2:p.Glu316Asp

Select item 14813820015.

rs1481382001 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:123011007 (GRCh38)
6:123332152 (GRCh37)
Canonical SPDI:: NC_000006.12:123011006:C:A,NC_000006.12:123011006:C:T
Gene:: CLVS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.123011007C>A, NC_000006.12:g.123011007C>T, NC_000006.11:g.123332152C>A, NC_000006.11:g.123332152C>T, NM_001010852.4:c.412C>A, NM_001010852.4:c.412C>T, NM_001010852.3:c.412C>A, NM_001010852.3:c.412C>T, NM_001010852.2:c.412C>A, NM_001010852.2:c.412C>T, XM_047418196.1:c.412C>A, XM_047418196.1:c.412C>T, NP_001010852.2:p.Arg138Ser, NP_001010852.2:p.Arg138Cys, XP_047274152.1:p.Arg138Ser, XP_047274152.1:p.Arg138Cys

Select item 14810695586.

rs1481069558 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:123011046 (GRCh38)
6:123332191 (GRCh37)
Canonical SPDI:: NC_000006.12:123011045:C:G
Gene:: CLVS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000113/4 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000045/12 (TOPMED)
HGVS:: NC_000006.12:g.123011046C>G, NC_000006.11:g.123332191C>G, NM_001010852.4:c.451C>G, NM_001010852.3:c.451C>G, NM_001010852.2:c.451C>G, XM_047418196.1:c.451C>G, NP_001010852.2:p.Pro151Ala, XP_047274152.1:p.Pro151Ala

Select item 14794176627.

rs1479417662 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:122997897 (GRCh38)
6:123319042 (GRCh37)
Canonical SPDI:: NC_000006.12:122997896:C:A
Gene:: CLVS2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000006.12:g.122997897C>A, NC_000006.11:g.123319042C>A, NM_001010852.4:c.120C>A, NM_001010852.3:c.120C>A, NM_001010852.2:c.120C>A, XM_047418196.1:c.120C>A

Select item 14662883968.

rs1466288396 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:123056003 (GRCh38)
6:123377148 (GRCh37)
Canonical SPDI:: NC_000006.12:123056002:A:G
Gene:: CLVS2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.123056003A>G, NC_000006.11:g.123377148A>G, NM_001010852.4:c.873A>G, NM_001010852.3:c.873A>G, NM_001010852.2:c.873A>G

Select item 14653828489.

rs1465382848 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:122997876 (GRCh38)
6:123319021 (GRCh37)
Canonical SPDI:: NC_000006.12:122997875:G:A
Gene:: CLVS2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.122997876G>A, NC_000006.11:g.123319021G>A, NM_001010852.4:c.99G>A, NM_001010852.3:c.99G>A, NM_001010852.2:c.99G>A, XM_047418196.1:c.99G>A

Select item 146392973510.

rs1463929735 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:122997791 (GRCh38)
6:123318936 (GRCh37)
Canonical SPDI:: NC_000006.12:122997790:A:G
Gene:: CLVS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.122997791A>G, NC_000006.11:g.123318936A>G, NM_001010852.4:c.14A>G, NM_001010852.3:c.14A>G, NM_001010852.2:c.14A>G, XM_047418196.1:c.14A>G, NP_001010852.2:p.Gln5Arg, XP_047274152.1:p.Gln5Arg

Select item 146387573311.

rs1463875733 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:123048680 (GRCh38)
6:123369825 (GRCh37)
Canonical SPDI:: NC_000006.12:123048679:A:G
Gene:: CLVS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000036/9 (GnomAD_exomes)
G=0.000076/20 (TOPMED)
G=0.0001/14 (GnomAD)
HGVS:: NC_000006.12:g.123048680A>G, NC_000006.11:g.123369825A>G, NM_001010852.4:c.623A>G, NM_001010852.3:c.623A>G, NM_001010852.2:c.623A>G, XM_047418196.1:c.623A>G, NP_001010852.2:p.His208Arg, XP_047274152.1:p.His208Arg

Select item 146373753212.

rs1463737532 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:123063743 (GRCh38)
6:123384888 (GRCh37)
Canonical SPDI:: NC_000006.12:123063742:A:T
Gene:: CLVS2 (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.00002/5 (GnomAD_exomes)
T=0.000057/8 (GnomAD)
HGVS:: NC_000006.12:g.123063743A>T, NC_000006.11:g.123384888A>T, NM_001010852.4:c.966A>T, NM_001010852.3:c.966A>T, NM_001010852.2:c.966A>T, XM_047418196.1:c.*25A>T

Select item 146119982613.

rs1461199826 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:122997789 (GRCh38)
6:123318934 (GRCh37)
Canonical SPDI:: NC_000006.12:122997788:G:A,NC_000006.12:122997788:G:T
Gene:: CLVS2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.122997789G>A, NC_000006.12:g.122997789G>T, NC_000006.11:g.123318934G>A, NC_000006.11:g.123318934G>T, NM_001010852.4:c.12G>A, NM_001010852.4:c.12G>T, NM_001010852.3:c.12G>A, NM_001010852.3:c.12G>T, NM_001010852.2:c.12G>A, NM_001010852.2:c.12G>T, XM_047418196.1:c.12G>A, XM_047418196.1:c.12G>T, NP_001010852.2:p.Leu4Phe, XP_047274152.1:p.Leu4Phe

Select item 146056249214.

rs1460562492 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:123063741 (GRCh38)
6:123384886 (GRCh37)
Canonical SPDI:: NC_000006.12:123063740:C:T
Gene:: CLVS2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.123063741C>T, NC_000006.11:g.123384886C>T, NM_001010852.4:c.964C>T, NM_001010852.3:c.964C>T, NM_001010852.2:c.964C>T, XM_047418196.1:c.*23C>T, NP_001010852.2:p.Pro322Ser

Select item 146054919715.

rs1460549197 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:122998107 (GRCh38)
6:123319252 (GRCh37)
Canonical SPDI:: NC_000006.12:122998106:T:A
Gene:: CLVS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000057/2 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.122998107T>A, NC_000006.11:g.123319252T>A, NM_001010852.4:c.330T>A, NM_001010852.3:c.330T>A, NM_001010852.2:c.330T>A, XM_047418196.1:c.330T>A, NP_001010852.2:p.Asn110Lys, XP_047274152.1:p.Asn110Lys

Select item 144979796716.

rs1449797967 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:123055952 (GRCh38)
6:123377097 (GRCh37)
Canonical SPDI:: NC_000006.12:123055951:C:A,NC_000006.12:123055951:C:T
Gene:: CLVS2 (Varview)
Functional Consequence:: intron_variant,missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.123055952C>A, NC_000006.12:g.123055952C>T, NC_000006.11:g.123377097C>A, NC_000006.11:g.123377097C>T, NM_001010852.4:c.822C>A, NM_001010852.4:c.822C>T, NM_001010852.3:c.822C>A, NM_001010852.3:c.822C>T, NM_001010852.2:c.822C>A, NM_001010852.2:c.822C>T, NP_001010852.2:p.Ser274Arg

Select item 144484605017.

rs1444846050 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:122998151 (GRCh38)
6:123319296 (GRCh37)
Canonical SPDI:: NC_000006.12:122998150:A:G
Gene:: CLVS2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.122998151A>G, NC_000006.11:g.123319296A>G, NM_001010852.4:c.374A>G, NM_001010852.3:c.374A>G, NM_001010852.2:c.374A>G, XM_047418196.1:c.374A>G, NP_001010852.2:p.Asn125Ser, XP_047274152.1:p.Asn125Ser

Select item 143687790118.

rs1436877901 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:122998086 (GRCh38)
6:123319231 (GRCh37)
Canonical SPDI:: NC_000006.12:122998085:C:T
Gene:: CLVS2 (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=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.122998086C>T, NC_000006.11:g.123319231C>T, NM_001010852.4:c.309C>T, NM_001010852.3:c.309C>T, NM_001010852.2:c.309C>T, XM_047418196.1:c.309C>T

Select item 143563057819.

rs1435630578 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:123011026 (GRCh38)
6:123332171 (GRCh37)
Canonical SPDI:: NC_000006.12:123011025:T:A
Gene:: CLVS2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
HGVS:: NC_000006.12:g.123011026T>A, NC_000006.11:g.123332171T>A, NM_001010852.4:c.431T>A, NM_001010852.3:c.431T>A, NM_001010852.2:c.431T>A, XM_047418196.1:c.431T>A, NP_001010852.2:p.Leu144Ter, XP_047274152.1:p.Leu144Ter

Select item 143038094220.

rs1430380942 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:122998092 (GRCh38)
6:123319237 (GRCh37)
Canonical SPDI:: NC_000006.12:122998091:T:C
Gene:: CLVS2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.122998092T>C, NC_000006.11:g.123319237T>C, NM_001010852.4:c.315T>C, NM_001010852.3:c.315T>C, NM_001010852.2:c.315T>C, XM_047418196.1:c.315T>C

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