SNP Links for Protein (Select 148922949) - SNP

Links from Protein

Items: 1 to 20 of 650

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Select item 14899899981.

rs1489989998 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:207677505 (GRCh38)
1:207850850 (GRCh37)
Canonical SPDI:: NC_000001.11:207677504:A:G
Gene:: CR1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.207677505A>G, NC_000001.10:g.207850850A>G, NM_175710.2:c.214A>G, NM_175710.1:c.214A>G, NP_783641.1:p.Arg72Gly

Select item 14892428832.

rs1489242883 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:207701615 (GRCh38)
1:207874960 (GRCh37)
Canonical SPDI:: NC_000001.11:207701614:C:A
Gene:: CR1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.207701615C>A, NC_000001.10:g.207874960C>A, NM_175710.2:c.1325C>A, NM_175710.1:c.1325C>A, NP_783641.1:p.Thr442Lys

Select item 14880551413.

rs1488055141 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:207694438 (GRCh38)
1:207867783 (GRCh37)
Canonical SPDI:: NC_000001.11:207694437:G:A
Gene:: CR1L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.207694438G>A, NC_000001.10:g.207867783G>A, NM_175710.2:c.549G>A, NM_175710.1:c.549G>A

Select item 14877577644.

rs1487757764 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:207717498 (GRCh38)
1:207890843 (GRCh37)
Canonical SPDI:: NC_000001.11:207717497:T:C
Gene:: CR1L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.207717498T>C, NC_000001.10:g.207890843T>C, NM_175710.2:c.1449T>C, NM_175710.1:c.1449T>C

Select item 14872820895.

rs1487282089 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:207697656 (GRCh38)
1:207871001 (GRCh37)
Canonical SPDI:: NC_000001.11:207697655:G:A,NC_000001.11:207697655:G:T
Gene:: CR1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.207697656G>A, NC_000001.11:g.207697656G>T, NC_000001.10:g.207871001G>A, NC_000001.10:g.207871001G>T, NM_175710.2:c.1016G>A, NM_175710.2:c.1016G>T, NM_175710.1:c.1016G>A, NM_175710.1:c.1016G>T, NP_783641.1:p.Ser339Asn, NP_783641.1:p.Ser339Ile

Select item 14856097936.

rs1485609793 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:207701550 (GRCh38)
1:207874895 (GRCh37)
Canonical SPDI:: NC_000001.11:207701549:G:A,NC_000001.11:207701549:G:T
Gene:: CR1L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.207701550G>A, NC_000001.11:g.207701550G>T, NC_000001.10:g.207874895G>A, NC_000001.10:g.207874895G>T, NM_175710.2:c.1260G>A, NM_175710.2:c.1260G>T, NM_175710.1:c.1260G>A, NM_175710.1:c.1260G>T

Select item 14834191477.

rs1483419147 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:207694616 (GRCh38)
1:207867961 (GRCh37)
Canonical SPDI:: NC_000001.11:207694615:G:A
Gene:: CR1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.207694616G>A, NC_000001.10:g.207867961G>A, NM_175710.2:c.727G>A, NM_175710.1:c.727G>A, NP_783641.1:p.Asp243Asn

Select item 14830323968.

rs1483032396 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:207717582 (GRCh38)
1:207890927 (GRCh37)
Canonical SPDI:: NC_000001.11:207717581:G:C
Gene:: CR1L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.207717582G>C, NC_000001.10:g.207890927G>C, NM_175710.2:c.1533G>C, NM_175710.1:c.1533G>C

Select item 14800842999.

rs1480084299 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:207694483 (GRCh38)
1:207867828 (GRCh37)
Canonical SPDI:: NC_000001.11:207694482:G:A
Gene:: CR1L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.207694483G>A, NC_000001.10:g.207867828G>A, NM_175710.2:c.594G>A, NM_175710.1:c.594G>A

Select item 147849269110.

rs1478492691 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:207697872 (GRCh38)
1:207871217 (GRCh37)
Canonical SPDI:: NC_000001.11:207697871:G:A
Gene:: CR1L (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.207697872G>A, NC_000001.10:g.207871217G>A, NM_175710.2:c.1141G>A, NM_175710.1:c.1141G>A, NP_783641.1:p.Gly381Arg

Select item 147556017411.

rs1475560174 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 1:207694487 (GRCh38)
1:207867832 (GRCh37)
Canonical SPDI:: NC_000001.11:207694486:G:
Gene:: CR1L (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.207694487del, NC_000001.10:g.207867832del, NM_175710.2:c.598del, NM_175710.1:c.598del, NP_783641.1:p.Val200fs

Select item 147516015412.

rs1475160154 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 1:207723681 (GRCh38)
1:207897026 (GRCh37)
Canonical SPDI:: NC_000001.11:207723680:TTT:TT
Gene:: CR1L (Varview)
Functional Consequence:: stop_lost,terminator_codon_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.207723683del, NC_000001.10:g.207897028del, NM_175710.2:c.1708del, NM_175710.1:c.1708del, NP_783641.1:p.Ter570AsnextTer?

Select item 147436520213.

rs1474365202 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:207678198 (GRCh38)
1:207851543 (GRCh37)
Canonical SPDI:: NC_000001.11:207678197:G:A,NC_000001.11:207678197:G:C
Gene:: CR1L (Varview)
Functional Consequence:: 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_000001.11:g.207678198G>A, NC_000001.11:g.207678198G>C, NC_000001.10:g.207851543G>A, NC_000001.10:g.207851543G>C, NM_175710.2:c.278G>A, NM_175710.2:c.278G>C, NM_175710.1:c.278G>A, NM_175710.1:c.278G>C, NP_783641.1:p.Arg93His, NP_783641.1:p.Arg93Pro

Select item 147239953314.

rs1472399533 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:207694604 (GRCh38)
1:207867949 (GRCh37)
Canonical SPDI:: NC_000001.11:207694603:A:G
Gene:: CR1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.207694604A>G, NC_000001.10:g.207867949A>G, NM_175710.2:c.715A>G, NM_175710.1:c.715A>G, NP_783641.1:p.Ile239Val

Select item 147126192015.

rs1471261920 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:207678271 (GRCh38)
1:207851616 (GRCh37)
Canonical SPDI:: NC_000001.11:207678270:C:G,NC_000001.11:207678270:C:T
Gene:: CR1L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.207678271C>G, NC_000001.11:g.207678271C>T, NC_000001.10:g.207851616C>G, NC_000001.10:g.207851616C>T, NM_175710.2:c.351C>G, NM_175710.2:c.351C>T, NM_175710.1:c.351C>G, NM_175710.1:c.351C>T

Select item 146709562716.

rs1467095627 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:207717648 (GRCh38)
1:207890993 (GRCh37)
Canonical SPDI:: NC_000001.11:207717647:T:C
Gene:: CR1L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.207717648T>C, NC_000001.10:g.207890993T>C, NM_175710.2:c.1599T>C, NM_175710.1:c.1599T>C

Select item 146474613817.

rs1464746138 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:207645330 (GRCh38)
1:207818675 (GRCh37)
Canonical SPDI:: NC_000001.11:207645329:G:A,NC_000001.11:207645329:G:T
Gene:: CR1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000059/1 (ALFA)
A=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.207645330G>A, NC_000001.11:g.207645330G>T, NC_000001.10:g.207818675G>A, NC_000001.10:g.207818675G>T, NG_008252.3:g.352G>A, NG_008252.3:g.352G>T, NM_175710.2:c.97G>A, NM_175710.2:c.97G>T, NM_175710.1:c.97G>A, NM_175710.1:c.97G>T, NP_783641.1:p.Asp33Asn, NP_783641.1:p.Asp33Tyr

Select item 146447047818.

rs1464470478 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:207701568 (GRCh38)
1:207874913 (GRCh37)
Canonical SPDI:: NC_000001.11:207701567:G:A
Gene:: CR1L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.207701568G>A, NC_000001.10:g.207874913G>A, NM_175710.2:c.1278G>A, NM_175710.1:c.1278G>A

Select item 146328456819.

rs1463284568 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:207678264 (GRCh38)
1:207851609 (GRCh37)
Canonical SPDI:: NC_000001.11:207678263:T:G
Gene:: CR1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000001.11:g.207678264T>G, NC_000001.10:g.207851609T>G, NM_175710.2:c.344T>G, NM_175710.1:c.344T>G, NP_783641.1:p.Phe115Cys

Select item 146240284320.

rs1462402843 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:207717684 (GRCh38)
1:207891029 (GRCh37)
Canonical SPDI:: NC_000001.11:207717683:T:G
Gene:: CR1L (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000001.11:g.207717684T>G, NC_000001.10:g.207891029T>G, NM_175710.2:c.1635T>G, NM_175710.1:c.1635T>G

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