SNP Links for Protein (Select 21686999) - SNP

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Links from Protein

Items: 1 to 20 of 507

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Select item 14897766631.

rs1489776663 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:58506187 (GRCh38)
1:58971859 (GRCh37)
Canonical SPDI:: NC_000001.11:58506186:C:T
Gene:: DAB1 (Varview), OMA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_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_000001.11:g.58506187C>T, NC_000001.10:g.58971859C>T, NM_145243.5:c.1238G>A, NM_145243.4:c.1238G>A, NM_145243.3:c.1238G>A, NM_001379461.1:c.-632G>A, NP_660286.1:p.Ser413Asn

Select item 14894476092.

rs1489447609 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:58481077 (GRCh38)
1:58946749 (GRCh37)
Canonical SPDI:: NC_000001.11:58481076:G:T
Gene:: DAB1 (Varview), OMA1 (Varview)
Functional Consequence:: intron_variant,stop_gained,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.58481077G>T, NC_000001.10:g.58946749G>T, NM_145243.5:c.1463C>A, NM_145243.4:c.1463C>A, NM_145243.3:c.1463C>A, NP_660286.1:p.Ser488Ter

Select item 14894105663.

rs1489410566 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:58506115 (GRCh38)
1:58971787 (GRCh37)
Canonical SPDI:: NC_000001.11:58506114:G:A
Gene:: DAB1 (Varview), OMA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.58506115G>A, NC_000001.10:g.58971787G>A, NM_145243.5:c.1310C>T, NM_145243.4:c.1310C>T, NM_145243.3:c.1310C>T, NM_001379461.1:c.-560C>T, NP_660286.1:p.Ser437Phe

Select item 14869376834.

rs1486937683 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:58536727 (GRCh38)
1:59002399 (GRCh37)
Canonical SPDI:: NC_000001.11:58536726:C:A
Gene:: DAB1 (Varview), OMA1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.58536727C>A, NC_000001.10:g.59002399C>A, NM_145243.5:c.515G>T, NM_145243.4:c.515G>T, NM_145243.3:c.515G>T, NP_660286.1:p.Trp172Leu

Select item 14852900055.

rs1485290005 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:58539101 (GRCh38)
1:59004773 (GRCh37)
Canonical SPDI:: NC_000001.11:58539100:G:C
Gene:: DAB1 (Varview), OMA1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000019/5 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.58539101G>C, NC_000001.10:g.59004773G>C, NM_145243.5:c.194C>G, NM_145243.4:c.194C>G, NM_145243.3:c.194C>G, NP_660286.1:p.Pro65Arg

Select item 14830604526.

rs1483060452 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:58538923 (GRCh38)
1:59004595 (GRCh37)
Canonical SPDI:: NC_000001.11:58538922:A:G
Gene:: DAB1 (Varview), OMA1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.58538923A>G, NC_000001.10:g.59004595A>G, NM_145243.5:c.372T>C, NM_145243.4:c.372T>C, NM_145243.3:c.372T>C

Select item 14817846947.

rs1481784694 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:58527271 (GRCh38)
1:58992943 (GRCh37)
Canonical SPDI:: NC_000001.11:58527270:A:G
Gene:: DAB1 (Varview), OMA1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.58527271A>G, NC_000001.10:g.58992943A>G, NM_145243.5:c.1205T>C, NM_145243.4:c.1205T>C, NM_145243.3:c.1205T>C, NM_001379461.1:c.-665T>C, NP_660286.1:p.Leu402Pro

Select item 14790111918.

rs1479011191 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:58481024 (GRCh38)
1:58946696 (GRCh37)
Canonical SPDI:: NC_000001.11:58481023:T:G
Gene:: DAB1 (Varview), OMA1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.58481024T>G, NC_000001.10:g.58946696T>G, NM_145243.5:c.1516A>C, NM_145243.4:c.1516A>C, NM_145243.3:c.1516A>C, NP_660286.1:p.Ile506Leu

Select item 14789183409.

rs1478918340 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:58530631 (GRCh38)
1:58996303 (GRCh37)
Canonical SPDI:: NC_000001.11:58530630:C:T
Gene:: DAB1 (Varview), OMA1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.58530631C>T, NC_000001.10:g.58996303C>T, NM_145243.5:c.1110G>A, NM_145243.4:c.1110G>A, NM_145243.3:c.1110G>A

Select item 147646051210.

rs1476460512 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:58536563 (GRCh38)
1:59002235 (GRCh37)
Canonical SPDI:: NC_000001.11:58536562:A:G
Gene:: DAB1 (Varview), OMA1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000001.11:g.58536563A>G, NC_000001.10:g.59002235A>G, NM_145243.5:c.679T>C, NM_145243.4:c.679T>C, NM_145243.3:c.679T>C

Select item 147588103311.

rs1475881033 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:58539162 (GRCh38)
1:59004834 (GRCh37)
Canonical SPDI:: NC_000001.11:58539161:G:A
Gene:: DAB1 (Varview), OMA1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.58539162G>A, NC_000001.10:g.59004834G>A, NM_145243.5:c.133C>T, NM_145243.4:c.133C>T, NM_145243.3:c.133C>T, NP_660286.1:p.His45Tyr

Select item 147254578112.

rs1472545781 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACTT>- [Show Flanks]
Chromosome:: 1:58539034 (GRCh38)
1:59004706 (GRCh37)
Canonical SPDI:: NC_000001.11:58539030:CTTACTT:CTT
Gene:: DAB1 (Varview), OMA1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,frameshift_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CTT=0.000071/1 (ALFA)
-=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.58539034_58539037del, NC_000001.10:g.59004706_59004709del, NM_145243.5:c.261_264del, NM_145243.4:c.261_264del, NM_145243.3:c.261_264del, NP_660286.1:p.Ser87fs

Select item 147160169513.

rs1471601695 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:58539182 (GRCh38)
1:59004854 (GRCh37)
Canonical SPDI:: NC_000001.11:58539181:C:T
Gene:: DAB1 (Varview), OMA1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_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_000001.11:g.58539182C>T, NC_000001.10:g.59004854C>T, NM_145243.5:c.113G>A, NM_145243.4:c.113G>A, NM_145243.3:c.113G>A, NP_660286.1:p.Cys38Tyr

Select item 146991526814.

rs1469915268 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 1:58527282 (GRCh38)
1:58992954 (GRCh37)
Canonical SPDI:: NC_000001.11:58527281:AA:A
Gene:: DAB1 (Varview), OMA1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.58527283del, NC_000001.10:g.58992955del, NM_145243.5:c.1194del, NM_145243.4:c.1194del, NM_145243.3:c.1194del, NM_001379461.1:c.-676del, NP_660286.1:p.Ile398fs

Select item 146963394115.

rs1469633941 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:58534313 (GRCh38)
1:58999985 (GRCh37)
Canonical SPDI:: NC_000001.11:58534312:T:C
Gene:: DAB1 (Varview), OMA1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.58534313T>C, NC_000001.10:g.58999985T>C, NM_145243.5:c.748A>G, NM_145243.4:c.748A>G, NM_145243.3:c.748A>G, NP_660286.1:p.Asn250Asp

Select item 146794671216.

rs1467946712 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:58534033 (GRCh38)
1:58999705 (GRCh37)
Canonical SPDI:: NC_000001.11:58534032:A:C
Gene:: DAB1 (Varview), OMA1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.58534033A>C, NC_000001.10:g.58999705A>C, NM_145243.5:c.931T>G, NM_145243.4:c.931T>G, NM_145243.3:c.931T>G, NP_660286.1:p.Phe311Val

Select item 146299590617.

rs1462995906 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:58539191 (GRCh38)
1:59004863 (GRCh37)
Canonical SPDI:: NC_000001.11:58539190:G:A
Gene:: DAB1 (Varview), OMA1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.58539191G>A, NC_000001.10:g.59004863G>A, NM_145243.5:c.104C>T, NM_145243.4:c.104C>T, NM_145243.3:c.104C>T, NP_660286.1:p.Ser35Leu

Select item 146202247718.

rs1462022477 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:58481030 (GRCh38)
1:58946702 (GRCh37)
Canonical SPDI:: NC_000001.11:58481029:G:A
Gene:: DAB1 (Varview), OMA1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.58481030G>A, NC_000001.10:g.58946702G>A, NM_145243.5:c.1510C>T, NM_145243.4:c.1510C>T, NM_145243.3:c.1510C>T, NP_660286.1:p.Leu504Phe

Select item 146076794419.

rs1460767944 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:58538815 (GRCh38)
1:59004487 (GRCh37)
Canonical SPDI:: NC_000001.11:58538814:T:C
Gene:: DAB1 (Varview), OMA1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000005/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.58538815T>C, NC_000001.10:g.59004487T>C, NM_145243.5:c.480A>G, NM_145243.4:c.480A>G, NM_145243.3:c.480A>G

Select item 145721754220.

rs1457217542 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:58539131 (GRCh38)
1:59004803 (GRCh37)
Canonical SPDI:: NC_000001.11:58539130:A:G
Gene:: DAB1 (Varview), OMA1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,missense_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.58539131A>G, NC_000001.10:g.59004803A>G, NM_145243.5:c.164T>C, NM_145243.4:c.164T>C, NM_145243.3:c.164T>C, NP_660286.1:p.Val55Ala

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