SNP Links for Protein (Select 166795297) - SNP

Links from Protein

Items: 1 to 20 of 463

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Select item 14886246941.

rs1488624694 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:32530312 (GRCh38)
3:32571804 (GRCh37)
Canonical SPDI:: NC_000003.12:32530311:T:A
Gene:: DYNC1LI1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.32530312T>A, NC_000003.11:g.32571804T>A, NG_051046.1:g.45613A>T, NM_016141.4:c.1157A>T, NM_016141.3:c.1157A>T, NM_001329135.2:c.809A>T, NM_001329135.1:c.809A>T, XM_047448246.1:c.719A>T, NP_057225.2:p.Gln386Leu, NP_001316064.1:p.Gln270Leu, XP_047304202.1:p.Gln240Leu

Select item 14801769712.

rs1480176971 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:32530484 (GRCh38)
3:32571976 (GRCh37)
Canonical SPDI:: NC_000003.12:32530483:G:A
Gene:: DYNC1LI1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.32530484G>A, NC_000003.11:g.32571976G>A, NG_051046.1:g.45441C>T, NM_016141.4:c.1117C>T, NM_016141.3:c.1117C>T, NM_001329135.2:c.769C>T, NM_001329135.1:c.769C>T, XM_047448246.1:c.679C>T, NP_057225.2:p.Gln373Ter, NP_001316064.1:p.Gln257Ter, XP_047304202.1:p.Gln227Ter

Select item 14795354963.

rs1479535496 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:32544907 (GRCh38)
3:32586399 (GRCh37)
Canonical SPDI:: NC_000003.12:32544906:A:T
Gene:: DYNC1LI1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.32544907A>T, NC_000003.11:g.32586399A>T, NG_051046.1:g.31018T>A, NM_016141.4:c.537T>A, NM_016141.3:c.537T>A, XM_047448246.1:c.99T>A

Select item 14790793324.

rs1479079332 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:32529590 (GRCh38)
3:32571082 (GRCh37)
Canonical SPDI:: NC_000003.12:32529589:C:T
Gene:: DYNC1LI1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.32529590C>T, NC_000003.11:g.32571082C>T, NG_051046.1:g.46335G>A, NM_016141.4:c.1256G>A, NM_016141.3:c.1256G>A, NM_001329135.2:c.908G>A, NM_001329135.1:c.908G>A, XM_047448246.1:c.818G>A, NP_057225.2:p.Ser419Asn, NP_001316064.1:p.Ser303Asn, XP_047304202.1:p.Ser273Asn

Select item 14790424635.

rs1479042463 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:32533037 (GRCh38)
3:32574529 (GRCh37)
Canonical SPDI:: NC_000003.12:32533036:T:C
Gene:: DYNC1LI1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.32533037T>C, NC_000003.11:g.32574529T>C, NG_051046.1:g.42888A>G, NM_016141.4:c.1029A>G, NM_016141.3:c.1029A>G, NM_001329135.2:c.681A>G, NM_001329135.1:c.681A>G, XM_047448246.1:c.591A>G

Select item 14788182036.

rs1478818203 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:32570399 (GRCh38)
3:32611891 (GRCh37)
Canonical SPDI:: NC_000003.12:32570398:A:G
Gene:: DYNC1LI1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.32570399A>G, NC_000003.11:g.32611891A>G, NG_051046.1:g.5526T>C, NM_016141.4:c.167T>C, NM_016141.3:c.167T>C, NM_001329135.2:c.167T>C, NM_001329135.1:c.167T>C, NP_057225.2:p.Val56Ala, NP_001316064.1:p.Val56Ala

Select item 14780503217.

rs1478050321 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:32537012 (GRCh38)
3:32578504 (GRCh37)
Canonical SPDI:: NC_000003.12:32537011:C:G
Gene:: DYNC1LI1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.32537012C>G, NC_000003.11:g.32578504C>G, NG_051046.1:g.38913G>C, NM_016141.4:c.831G>C, NM_016141.3:c.831G>C, NM_001329135.2:c.483G>C, NM_001329135.1:c.483G>C, XM_047448246.1:c.393G>C, NP_057225.2:p.Gln277His, NP_001316064.1:p.Gln161His, XP_047304202.1:p.Gln131His

Select item 14770789248.

rs1477078924 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:32530320 (GRCh38)
3:32571812 (GRCh37)
Canonical SPDI:: NC_000003.12:32530319:T:A
Gene:: DYNC1LI1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.32530320T>A, NC_000003.11:g.32571812T>A, NG_051046.1:g.45605A>T, NM_016141.4:c.1149A>T, NM_016141.3:c.1149A>T, NM_001329135.2:c.801A>T, NM_001329135.1:c.801A>T, XM_047448246.1:c.711A>T, NP_057225.2:p.Leu383Phe, NP_001316064.1:p.Leu267Phe, XP_047304202.1:p.Leu237Phe

Select item 14731605189.

rs1473160518 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:32570678 (GRCh38)
3:32612170 (GRCh37)
Canonical SPDI:: NC_000003.12:32570677:C:T
Gene:: DYNC1LI1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.32570678C>T, NC_000003.11:g.32612170C>T, NG_051046.1:g.5247G>A, NM_016141.4:c.93G>A, NM_016141.3:c.93G>A, NM_001329135.2:c.93G>A, NM_001329135.1:c.93G>A

Select item 147282735610.

rs1472827356 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:32529632 (GRCh38)
3:32571124 (GRCh37)
Canonical SPDI:: NC_000003.12:32529631:G:A
Gene:: DYNC1LI1 (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_000003.12:g.32529632G>A, NC_000003.11:g.32571124G>A, NG_051046.1:g.46293C>T, NM_016141.4:c.1214C>T, NM_016141.3:c.1214C>T, NM_001329135.2:c.866C>T, NM_001329135.1:c.866C>T, XM_047448246.1:c.776C>T, NP_057225.2:p.Ser405Phe, NP_001316064.1:p.Ser289Phe, XP_047304202.1:p.Ser259Phe

Select item 147202576111.

rs1472025761 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:32528552 (GRCh38)
3:32570044 (GRCh37)
Canonical SPDI:: NC_000003.12:32528551:C:T
Gene:: DYNC1LI1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.32528552C>T, NC_000003.11:g.32570044C>T, NG_051046.1:g.47373G>A, NM_016141.4:c.1356G>A, NM_016141.3:c.1356G>A, NM_001329135.2:c.1008G>A, NM_001329135.1:c.1008G>A, XM_047448246.1:c.918G>A

Select item 147130031712.

rs1471300317 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:32530304 (GRCh38)
3:32571796 (GRCh37)
Canonical SPDI:: NC_000003.12:32530303:T:C
Gene:: DYNC1LI1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.32530304T>C, NC_000003.11:g.32571796T>C, NG_051046.1:g.45621A>G, NM_016141.4:c.1165A>G, NM_016141.3:c.1165A>G, NM_001329135.2:c.817A>G, NM_001329135.1:c.817A>G, XM_047448246.1:c.727A>G, NP_057225.2:p.Thr389Ala, NP_001316064.1:p.Thr273Ala, XP_047304202.1:p.Thr243Ala

Select item 147076336113.

rs1470763361 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:32545083 (GRCh38)
3:32586575 (GRCh37)
Canonical SPDI:: NC_000003.12:32545082:T:A
Gene:: DYNC1LI1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.32545083T>A, NC_000003.11:g.32586575T>A, NG_051046.1:g.30842A>T, NM_016141.4:c.361A>T, NM_016141.3:c.361A>T, XM_047448246.1:c.-78A>T, NP_057225.2:p.Ile121Phe

Select item 146966034414.

rs1469660344 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:32570668 (GRCh38)
3:32612160 (GRCh37)
Canonical SPDI:: NC_000003.12:32570667:C:T
Gene:: DYNC1LI1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_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_000003.12:g.32570668C>T, NC_000003.11:g.32612160C>T, NG_051046.1:g.5257G>A, NM_016141.4:c.103G>A, NM_016141.3:c.103G>A, NM_001329135.2:c.103G>A, NM_001329135.1:c.103G>A, NP_057225.2:p.Gly35Ser, NP_001316064.1:p.Gly35Ser

Select item 146944813015.

rs1469448130 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:32570686 (GRCh38)
3:32612178 (GRCh37)
Canonical SPDI:: NC_000003.12:32570685:C:T
Gene:: DYNC1LI1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.32570686C>T, NC_000003.11:g.32612178C>T, NG_051046.1:g.5239G>A, NM_016141.4:c.85G>A, NM_016141.3:c.85G>A, NM_001329135.2:c.85G>A, NM_001329135.1:c.85G>A, NP_057225.2:p.Glu29Lys, NP_001316064.1:p.Glu29Lys

Select item 146866227416.

rs1468662274 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:32526884 (GRCh38)
3:32568376 (GRCh37)
Canonical SPDI:: NC_000003.12:32526883:T:C
Gene:: DYNC1LI1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.32526884T>C, NC_000003.11:g.32568376T>C, NG_051046.1:g.49041A>G, NM_016141.4:c.1487A>G, NM_016141.3:c.1487A>G, NM_001329135.2:c.1139A>G, NM_001329135.1:c.1139A>G, XM_047448246.1:c.1049A>G, NP_057225.2:p.His496Arg, NP_001316064.1:p.His380Arg, XP_047304202.1:p.His350Arg

Select item 146764259817.

rs1467642598 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:32528504 (GRCh38)
3:32569996 (GRCh37)
Canonical SPDI:: NC_000003.12:32528503:G:A
Gene:: DYNC1LI1 (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)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.32528504G>A, NC_000003.11:g.32569996G>A, NG_051046.1:g.47421C>T, NM_016141.4:c.1404C>T, NM_016141.3:c.1404C>T, NM_001329135.2:c.1056C>T, NM_001329135.1:c.1056C>T, XM_047448246.1:c.966C>T

Select item 146281321718.

rs1462813217 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:32570684 (GRCh38)
3:32612176 (GRCh37)
Canonical SPDI:: NC_000003.12:32570683:C:G,NC_000003.12:32570683:C:T
Gene:: DYNC1LI1 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
G=0.000562/1 (Korea1K)
HGVS:: NC_000003.12:g.32570684C>G, NC_000003.12:g.32570684C>T, NC_000003.11:g.32612176C>G, NC_000003.11:g.32612176C>T, NG_051046.1:g.5241G>C, NG_051046.1:g.5241G>A, NM_016141.4:c.87G>C, NM_016141.4:c.87G>A, NM_016141.3:c.87G>C, NM_016141.3:c.87G>A, NM_001329135.2:c.87G>C, NM_001329135.2:c.87G>A, NM_001329135.1:c.87G>C, NM_001329135.1:c.87G>A, NP_057225.2:p.Glu29Asp, NP_001316064.1:p.Glu29Asp

Select item 146264866319.

rs1462648663 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:32545880 (GRCh38)
3:32587372 (GRCh37)
Canonical SPDI:: NC_000003.12:32545879:C:G
Gene:: DYNC1LI1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.32545880C>G, NC_000003.11:g.32587372C>G, NG_051046.1:g.30045G>C, NM_016141.4:c.306G>C, NM_016141.3:c.306G>C, XM_047448246.1:c.-133G>C, NP_057225.2:p.Leu102Phe

Select item 145748745120.

rs1457487451 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:32534645 (GRCh38)
3:32576137 (GRCh37)
Canonical SPDI:: NC_000003.12:32534644:A:G
Gene:: DYNC1LI1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (KOREAN)
G=0.000004/1 (TOPMED)
G=0.000005/1 (GnomAD_exomes)
G=0.000177/3 (TOMMO)
HGVS:: NC_000003.12:g.32534645A>G, NC_000003.11:g.32576137A>G, NG_051046.1:g.41280T>C, NM_016141.4:c.834T>C, NM_016141.3:c.834T>C, NM_001329135.2:c.486T>C, NM_001329135.1:c.486T>C, XM_047448246.1:c.396T>C

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