SNP Links for Protein (Select 767961733) - SNP

Links from Protein

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Select item 14842129101.

rs1484212910 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:80342328 (GRCh38)
10:82102084 (GRCh37)
Canonical SPDI:: NC_000010.11:80342327:G:A
Gene:: DYDC1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000061/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000010.11:g.80342328G>A, NC_000010.10:g.82102084G>A, XM_005269550.5:c.283C>T, XM_005269550.4:c.283C>T, XM_005269550.3:c.283C>T, XM_005269550.2:c.283C>T, XM_005269550.1:c.283C>T, XM_005269549.5:c.283C>T, XM_005269549.4:c.283C>T, XM_005269549.3:c.283C>T, XM_005269549.2:c.283C>T, XM_005269549.1:c.283C>T, NM_138812.4:c.283C>T, NM_138812.3:c.283C>T, XM_011539334.3:c.283C>T, XM_011539334.2:c.283C>T, XM_011539334.1:c.283C>T, XM_011539335.2:c.283C>T, XM_011539335.1:c.283C>T, NM_001269053.2:c.283C>T, NM_001269053.1:c.283C>T, XM_017015749.2:c.283C>T, XM_017015749.1:c.283C>T, XM_047424655.1:c.283C>T, NM_001370155.1:c.283C>T, NM_001370157.1:c.283C>T, NM_001370156.1:c.283C>T, XP_005269607.1:p.Gln95Ter, XP_005269606.1:p.Gln95Ter, NP_620167.1:p.Gln95Ter, XP_011537636.1:p.Gln95Ter, XP_011537637.1:p.Gln95Ter, NP_001255982.1:p.Gln95Ter, XP_016871238.1:p.Gln95Ter, XP_047280611.1:p.Gln95Ter, NP_001357084.1:p.Gln95Ter, NP_001357086.1:p.Gln95Ter, NP_001357085.1:p.Gln95Ter

Select item 14813462842.

rs1481346284 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 10:80352524 (GRCh38)
10:82112280 (GRCh37)
Canonical SPDI:: NC_000010.11:80352523:T:
Gene:: DYDC2 (Varview), DYDC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.80352524del, NC_000010.10:g.82112280del, XM_005269550.5:c.78del, XM_005269550.4:c.78del, XM_005269550.3:c.78del, XM_005269550.2:c.78del, XM_005269550.1:c.78del, XM_005269549.5:c.78del, XM_005269549.4:c.78del, XM_005269549.3:c.78del, XM_005269549.2:c.78del, XM_005269549.1:c.78del, NM_138812.4:c.78del, NM_138812.3:c.78del, XM_011539334.3:c.78del, XM_011539334.2:c.78del, XM_011539334.1:c.78del, NR_070308.2:n.159del, NR_070308.1:n.159del, XM_011539335.2:c.78del, XM_011539335.1:c.78del, NM_001269053.2:c.78del, NM_001269053.1:c.78del, XM_017015749.2:c.78del, XM_017015749.1:c.78del, XM_047424655.1:c.78del, NM_001370155.1:c.78del, NM_001370157.1:c.78del, NM_001370156.1:c.78del, XP_005269607.1:p.Val27fs, XP_005269606.1:p.Val27fs, NP_620167.1:p.Val27fs, XP_011537636.1:p.Val27fs, XP_011537637.1:p.Val27fs, NP_001255982.1:p.Val27fs, XP_016871238.1:p.Val27fs, XP_047280611.1:p.Val27fs, NP_001357084.1:p.Val27fs, NP_001357086.1:p.Val27fs, NP_001357085.1:p.Val27fs

Select item 14625787163.

rs1462578716 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:80352465 (GRCh38)
10:82112221 (GRCh37)
Canonical SPDI:: NC_000010.11:80352464:A:G
Gene:: DYDC2 (Varview), DYDC1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.80352465A>G, NC_000010.10:g.82112221A>G, XM_005269550.5:c.137T>C, XM_005269550.4:c.137T>C, XM_005269550.3:c.137T>C, XM_005269550.2:c.137T>C, XM_005269550.1:c.137T>C, XM_005269549.5:c.137T>C, XM_005269549.4:c.137T>C, XM_005269549.3:c.137T>C, XM_005269549.2:c.137T>C, XM_005269549.1:c.137T>C, NM_138812.4:c.137T>C, NM_138812.3:c.137T>C, XM_011539334.3:c.137T>C, XM_011539334.2:c.137T>C, XM_011539334.1:c.137T>C, NR_070308.2:n.100A>G, NR_070308.1:n.100A>G, XM_011539335.2:c.137T>C, XM_011539335.1:c.137T>C, NM_001269053.2:c.137T>C, NM_001269053.1:c.137T>C, XM_017015749.2:c.137T>C, XM_017015749.1:c.137T>C, XM_047424655.1:c.137T>C, NM_001370155.1:c.137T>C, NM_001370157.1:c.137T>C, NM_001370156.1:c.137T>C, XP_005269607.1:p.Met46Thr, XP_005269606.1:p.Met46Thr, NP_620167.1:p.Met46Thr, XP_011537636.1:p.Met46Thr, XP_011537637.1:p.Met46Thr, NP_001255982.1:p.Met46Thr, XP_016871238.1:p.Met46Thr, XP_047280611.1:p.Met46Thr, NP_001357084.1:p.Met46Thr, NP_001357086.1:p.Met46Thr, NP_001357085.1:p.Met46Thr

Select item 14595650304.

rs1459565030 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:80342300 (GRCh38)
10:82102056 (GRCh37)
Canonical SPDI:: NC_000010.11:80342299:T:C
Gene:: DYDC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.80342300T>C, NC_000010.10:g.82102056T>C, XM_005269550.5:c.311A>G, XM_005269550.4:c.311A>G, XM_005269550.3:c.311A>G, XM_005269550.2:c.311A>G, XM_005269550.1:c.311A>G, XM_005269549.5:c.311A>G, XM_005269549.4:c.311A>G, XM_005269549.3:c.311A>G, XM_005269549.2:c.311A>G, XM_005269549.1:c.311A>G, NM_138812.4:c.311A>G, NM_138812.3:c.311A>G, XM_011539334.3:c.311A>G, XM_011539334.2:c.311A>G, XM_011539334.1:c.311A>G, XM_011539335.2:c.311A>G, XM_011539335.1:c.311A>G, NM_001269053.2:c.311A>G, NM_001269053.1:c.311A>G, XM_017015749.2:c.311A>G, XM_017015749.1:c.311A>G, XM_047424655.1:c.311A>G, NM_001370155.1:c.311A>G, NM_001370157.1:c.311A>G, NM_001370156.1:c.311A>G, XP_005269607.1:p.Glu104Gly, XP_005269606.1:p.Glu104Gly, NP_620167.1:p.Glu104Gly, XP_011537636.1:p.Glu104Gly, XP_011537637.1:p.Glu104Gly, NP_001255982.1:p.Glu104Gly, XP_016871238.1:p.Glu104Gly, XP_047280611.1:p.Glu104Gly, NP_001357084.1:p.Glu104Gly, NP_001357086.1:p.Glu104Gly, NP_001357085.1:p.Glu104Gly

Select item 14585949985.

rs1458594998 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:80338438 (GRCh38)
10:82098194 (GRCh37)
Canonical SPDI:: NC_000010.11:80338437:G:A
Gene:: DYDC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.80338438G>A, NC_000010.10:g.82098194G>A, XM_005269550.5:c.533C>T, XM_005269550.4:c.533C>T, XM_005269550.3:c.533C>T, XM_005269550.2:c.533C>T, XM_005269550.1:c.533C>T, XM_005269549.5:c.533C>T, XM_005269549.4:c.533C>T, XM_005269549.3:c.533C>T, XM_005269549.2:c.533C>T, XM_005269549.1:c.533C>T, XM_011539334.3:c.533C>T, XM_011539334.2:c.533C>T, XM_011539334.1:c.533C>T, XP_005269607.1:p.Thr178Ile, XP_005269606.1:p.Thr178Ile, XP_011537636.1:p.Thr178Ile

Select item 14568737796.

rs1456873779 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:80351927 (GRCh38)
10:82111683 (GRCh37)
Canonical SPDI:: NC_000010.11:80351926:T:G
Gene:: DYDC2 (Varview), DYDC1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.80351927T>G, NC_000010.10:g.82111683T>G, XM_005269550.5:c.223A>C, XM_005269550.4:c.223A>C, XM_005269550.3:c.223A>C, XM_005269550.2:c.223A>C, XM_005269550.1:c.223A>C, XM_005269549.5:c.223A>C, XM_005269549.4:c.223A>C, XM_005269549.3:c.223A>C, XM_005269549.2:c.223A>C, XM_005269549.1:c.223A>C, NM_138812.4:c.223A>C, NM_138812.3:c.223A>C, XM_011539334.3:c.223A>C, XM_011539334.2:c.223A>C, XM_011539334.1:c.223A>C, XM_011539335.2:c.223A>C, XM_011539335.1:c.223A>C, NM_001269053.2:c.223A>C, NM_001269053.1:c.223A>C, XM_017015749.2:c.223A>C, XM_017015749.1:c.223A>C, XM_047424655.1:c.223A>C, NM_001370155.1:c.223A>C, NM_001370157.1:c.223A>C, NM_001370156.1:c.223A>C, XP_005269607.1:p.Lys75Gln, XP_005269606.1:p.Lys75Gln, NP_620167.1:p.Lys75Gln, XP_011537636.1:p.Lys75Gln, XP_011537637.1:p.Lys75Gln, NP_001255982.1:p.Lys75Gln, XP_016871238.1:p.Lys75Gln, XP_047280611.1:p.Lys75Gln, NP_001357084.1:p.Lys75Gln, NP_001357086.1:p.Lys75Gln, NP_001357085.1:p.Lys75Gln

Select item 14531329787.

rs1453132978 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:80352516 (GRCh38)
10:82112272 (GRCh37)
Canonical SPDI:: NC_000010.11:80352515:G:A
Gene:: DYDC2 (Varview), DYDC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
A=0.000024/6 (GnomAD_exomes)
HGVS:: NC_000010.11:g.80352516G>A, NC_000010.10:g.82112272G>A, XM_005269550.5:c.86C>T, XM_005269550.4:c.86C>T, XM_005269550.3:c.86C>T, XM_005269550.2:c.86C>T, XM_005269550.1:c.86C>T, XM_005269549.5:c.86C>T, XM_005269549.4:c.86C>T, XM_005269549.3:c.86C>T, XM_005269549.2:c.86C>T, XM_005269549.1:c.86C>T, NM_138812.4:c.86C>T, NM_138812.3:c.86C>T, XM_011539334.3:c.86C>T, XM_011539334.2:c.86C>T, XM_011539334.1:c.86C>T, NR_070308.2:n.151G>A, NR_070308.1:n.151G>A, XM_011539335.2:c.86C>T, XM_011539335.1:c.86C>T, NM_001269053.2:c.86C>T, NM_001269053.1:c.86C>T, XM_017015749.2:c.86C>T, XM_017015749.1:c.86C>T, XM_047424655.1:c.86C>T, NM_001370155.1:c.86C>T, NM_001370157.1:c.86C>T, NM_001370156.1:c.86C>T, XP_005269607.1:p.Pro29Leu, XP_005269606.1:p.Pro29Leu, NP_620167.1:p.Pro29Leu, XP_011537636.1:p.Pro29Leu, XP_011537637.1:p.Pro29Leu, NP_001255982.1:p.Pro29Leu, XP_016871238.1:p.Pro29Leu, XP_047280611.1:p.Pro29Leu, NP_001357084.1:p.Pro29Leu, NP_001357086.1:p.Pro29Leu, NP_001357085.1:p.Pro29Leu

Select item 14425560598.

rs1442556059 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:80338416 (GRCh38)
10:82098172 (GRCh37)
Canonical SPDI:: NC_000010.11:80338415:T:C
Gene:: DYDC1 (Varview)
Functional Consequence:: intron_variant,terminator_codon_variant,stop_lost
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.80338416T>C, NC_000010.10:g.82098172T>C, XM_005269550.5:c.555A>G, XM_005269550.4:c.555A>G, XM_005269550.3:c.555A>G, XM_005269550.2:c.555A>G, XM_005269550.1:c.555A>G, XM_005269549.5:c.555A>G, XM_005269549.4:c.555A>G, XM_005269549.3:c.555A>G, XM_005269549.2:c.555A>G, XM_005269549.1:c.555A>G, XM_011539334.3:c.555A>G, XM_011539334.2:c.555A>G, XM_011539334.1:c.555A>G, XP_005269607.1:p.Ter185Trp, XP_005269606.1:p.Ter185Trp, XP_011537636.1:p.Ter185Trp

Select item 14385069359.

rs1438506935 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:80339101 (GRCh38)
10:82098857 (GRCh37)
Canonical SPDI:: NC_000010.11:80339100:G:A,NC_000010.11:80339100:G:T
Gene:: DYDC1 (Varview)
Functional Consequence:: missense_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.80339101G>A, NC_000010.11:g.80339101G>T, NC_000010.10:g.82098857G>A, NC_000010.10:g.82098857G>T, XM_005269550.5:c.395C>T, XM_005269550.5:c.395C>A, XM_005269550.4:c.395C>T, XM_005269550.4:c.395C>A, XM_005269550.3:c.395C>T, XM_005269550.3:c.395C>A, XM_005269550.2:c.395C>T, XM_005269550.2:c.395C>A, XM_005269550.1:c.395C>T, XM_005269550.1:c.395C>A, XM_005269549.5:c.395C>T, XM_005269549.5:c.395C>A, XM_005269549.4:c.395C>T, XM_005269549.4:c.395C>A, XM_005269549.3:c.395C>T, XM_005269549.3:c.395C>A, XM_005269549.2:c.395C>T, XM_005269549.2:c.395C>A, XM_005269549.1:c.395C>T, XM_005269549.1:c.395C>A, NM_138812.4:c.395C>T, NM_138812.4:c.395C>A, NM_138812.3:c.395C>T, NM_138812.3:c.395C>A, XM_011539334.3:c.395C>T, XM_011539334.3:c.395C>A, XM_011539334.2:c.395C>T, XM_011539334.2:c.395C>A, XM_011539334.1:c.395C>T, XM_011539334.1:c.395C>A, XM_011539335.2:c.395C>T, XM_011539335.2:c.395C>A, XM_011539335.1:c.395C>T, XM_011539335.1:c.395C>A, NM_001269053.2:c.395C>T, NM_001269053.2:c.395C>A, NM_001269053.1:c.395C>T, NM_001269053.1:c.395C>A, XM_017015749.2:c.395C>T, XM_017015749.2:c.395C>A, XM_017015749.1:c.395C>T, XM_017015749.1:c.395C>A, XM_047424655.1:c.395C>T, XM_047424655.1:c.395C>A, NM_001370155.1:c.395C>T, NM_001370155.1:c.395C>A, NM_001370157.1:c.395C>T, NM_001370157.1:c.395C>A, NM_001370156.1:c.395C>T, NM_001370156.1:c.395C>A, XP_005269607.1:p.Ser132Leu, XP_005269607.1:p.Ser132Ter, XP_005269606.1:p.Ser132Leu, XP_005269606.1:p.Ser132Ter, NP_620167.1:p.Ser132Leu, NP_620167.1:p.Ser132Ter, XP_011537636.1:p.Ser132Leu, XP_011537636.1:p.Ser132Ter, XP_011537637.1:p.Ser132Leu, XP_011537637.1:p.Ser132Ter, NP_001255982.1:p.Ser132Leu, NP_001255982.1:p.Ser132Ter, XP_016871238.1:p.Ser132Leu, XP_016871238.1:p.Ser132Ter, XP_047280611.1:p.Ser132Leu, XP_047280611.1:p.Ser132Ter, NP_001357084.1:p.Ser132Leu, NP_001357084.1:p.Ser132Ter, NP_001357086.1:p.Ser132Leu, NP_001357086.1:p.Ser132Ter, NP_001357085.1:p.Ser132Leu, NP_001357085.1:p.Ser132Ter

Select item 142999765210.

rs1429997652 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:80342304 (GRCh38)
10:82102060 (GRCh37)
Canonical SPDI:: NC_000010.11:80342303:G:T
Gene:: DYDC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.80342304G>T, NC_000010.10:g.82102060G>T, XM_005269550.5:c.307C>A, XM_005269550.4:c.307C>A, XM_005269550.3:c.307C>A, XM_005269550.2:c.307C>A, XM_005269550.1:c.307C>A, XM_005269549.5:c.307C>A, XM_005269549.4:c.307C>A, XM_005269549.3:c.307C>A, XM_005269549.2:c.307C>A, XM_005269549.1:c.307C>A, NM_138812.4:c.307C>A, NM_138812.3:c.307C>A, XM_011539334.3:c.307C>A, XM_011539334.2:c.307C>A, XM_011539334.1:c.307C>A, XM_011539335.2:c.307C>A, XM_011539335.1:c.307C>A, NM_001269053.2:c.307C>A, NM_001269053.1:c.307C>A, XM_017015749.2:c.307C>A, XM_017015749.1:c.307C>A, XM_047424655.1:c.307C>A, NM_001370155.1:c.307C>A, NM_001370157.1:c.307C>A, NM_001370156.1:c.307C>A, XP_005269607.1:p.Gln103Lys, XP_005269606.1:p.Gln103Lys, NP_620167.1:p.Gln103Lys, XP_011537636.1:p.Gln103Lys, XP_011537637.1:p.Gln103Lys, NP_001255982.1:p.Gln103Lys, XP_016871238.1:p.Gln103Lys, XP_047280611.1:p.Gln103Lys, NP_001357084.1:p.Gln103Lys, NP_001357086.1:p.Gln103Lys, NP_001357085.1:p.Gln103Lys

Select item 142940978911.

rs1429409789 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:80352483 (GRCh38)
10:82112239 (GRCh37)
Canonical SPDI:: NC_000010.11:80352482:T:C
Gene:: DYDC2 (Varview), DYDC1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.80352483T>C, NC_000010.10:g.82112239T>C, XM_005269550.5:c.119A>G, XM_005269550.4:c.119A>G, XM_005269550.3:c.119A>G, XM_005269550.2:c.119A>G, XM_005269550.1:c.119A>G, XM_005269549.5:c.119A>G, XM_005269549.4:c.119A>G, XM_005269549.3:c.119A>G, XM_005269549.2:c.119A>G, XM_005269549.1:c.119A>G, NM_138812.4:c.119A>G, NM_138812.3:c.119A>G, XM_011539334.3:c.119A>G, XM_011539334.2:c.119A>G, XM_011539334.1:c.119A>G, NR_070308.2:n.118T>C, NR_070308.1:n.118T>C, XM_011539335.2:c.119A>G, XM_011539335.1:c.119A>G, NM_001269053.2:c.119A>G, NM_001269053.1:c.119A>G, XM_017015749.2:c.119A>G, XM_017015749.1:c.119A>G, XM_047424655.1:c.119A>G, NM_001370155.1:c.119A>G, NM_001370157.1:c.119A>G, NM_001370156.1:c.119A>G, XP_005269607.1:p.Tyr40Cys, XP_005269606.1:p.Tyr40Cys, NP_620167.1:p.Tyr40Cys, XP_011537636.1:p.Tyr40Cys, XP_011537637.1:p.Tyr40Cys, NP_001255982.1:p.Tyr40Cys, XP_016871238.1:p.Tyr40Cys, XP_047280611.1:p.Tyr40Cys, NP_001357084.1:p.Tyr40Cys, NP_001357086.1:p.Tyr40Cys, NP_001357085.1:p.Tyr40Cys

Select item 141864880312.

rs1418648803 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:80352536 (GRCh38)
10:82112292 (GRCh37)
Canonical SPDI:: NC_000010.11:80352535:T:C
Gene:: DYDC2 (Varview), DYDC1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.80352536T>C, NC_000010.10:g.82112292T>C, XM_005269550.5:c.66A>G, XM_005269550.4:c.66A>G, XM_005269550.3:c.66A>G, XM_005269550.2:c.66A>G, XM_005269550.1:c.66A>G, XM_005269549.5:c.66A>G, XM_005269549.4:c.66A>G, XM_005269549.3:c.66A>G, XM_005269549.2:c.66A>G, XM_005269549.1:c.66A>G, NM_138812.4:c.66A>G, NM_138812.3:c.66A>G, XM_011539334.3:c.66A>G, XM_011539334.2:c.66A>G, XM_011539334.1:c.66A>G, NR_070308.2:n.171T>C, NR_070308.1:n.171T>C, XM_011539335.2:c.66A>G, XM_011539335.1:c.66A>G, NM_001269053.2:c.66A>G, NM_001269053.1:c.66A>G, XM_017015749.2:c.66A>G, XM_017015749.1:c.66A>G, XM_047424655.1:c.66A>G, NM_001370155.1:c.66A>G, NM_001370157.1:c.66A>G, NM_001370156.1:c.66A>G

Select item 140797181813.

rs1407971818 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:80338443 (GRCh38)
10:82098199 (GRCh37)
Canonical SPDI:: NC_000010.11:80338442:T:C
Gene:: DYDC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.80338443T>C, NC_000010.10:g.82098199T>C, XM_005269550.5:c.528A>G, XM_005269550.4:c.528A>G, XM_005269550.3:c.528A>G, XM_005269550.2:c.528A>G, XM_005269550.1:c.528A>G, XM_005269549.5:c.528A>G, XM_005269549.4:c.528A>G, XM_005269549.3:c.528A>G, XM_005269549.2:c.528A>G, XM_005269549.1:c.528A>G, XM_011539334.3:c.528A>G, XM_011539334.2:c.528A>G, XM_011539334.1:c.528A>G

Select item 140672764614.

rs1406727646 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:80338453 (GRCh38)
10:82098209 (GRCh37)
Canonical SPDI:: NC_000010.11:80338452:A:G
Gene:: DYDC1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.80338453A>G, NC_000010.10:g.82098209A>G, XM_005269550.5:c.518T>C, XM_005269550.4:c.518T>C, XM_005269550.3:c.518T>C, XM_005269550.2:c.518T>C, XM_005269550.1:c.518T>C, XM_005269549.5:c.518T>C, XM_005269549.4:c.518T>C, XM_005269549.3:c.518T>C, XM_005269549.2:c.518T>C, XM_005269549.1:c.518T>C, XM_011539334.3:c.518T>C, XM_011539334.2:c.518T>C, XM_011539334.1:c.518T>C, XP_005269607.1:p.Val173Ala, XP_005269606.1:p.Val173Ala, XP_011537636.1:p.Val173Ala

Select item 140146297015.

rs1401462970 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:80338540 (GRCh38)
10:82098296 (GRCh37)
Canonical SPDI:: NC_000010.11:80338539:G:A
Gene:: DYDC1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.80338540G>A, NC_000010.10:g.82098296G>A, XM_005269550.5:c.431C>T, XM_005269550.4:c.431C>T, XM_005269550.3:c.431C>T, XM_005269550.2:c.431C>T, XM_005269550.1:c.431C>T, XM_005269549.5:c.431C>T, XM_005269549.4:c.431C>T, XM_005269549.3:c.431C>T, XM_005269549.2:c.431C>T, XM_005269549.1:c.431C>T, NM_138812.4:c.431C>T, NM_138812.3:c.431C>T, XM_011539334.3:c.431C>T, XM_011539334.2:c.431C>T, XM_011539334.1:c.431C>T, XM_011539335.2:c.431C>T, XM_011539335.1:c.431C>T, NM_001269053.2:c.431C>T, NM_001269053.1:c.431C>T, XM_017015749.2:c.431C>T, XM_017015749.1:c.431C>T, XM_047424655.1:c.431C>T, NM_001370155.1:c.431C>T, NM_001370156.1:c.431C>T, XP_005269607.1:p.Ala144Val, XP_005269606.1:p.Ala144Val, NP_620167.1:p.Ala144Val, XP_011537636.1:p.Ala144Val, XP_011537637.1:p.Ala144Val, NP_001255982.1:p.Ala144Val, XP_016871238.1:p.Ala144Val, XP_047280611.1:p.Ala144Val, NP_001357084.1:p.Ala144Val, NP_001357085.1:p.Ala144Val

Select item 140116184616.

rs1401161846 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:80338544 (GRCh38)
10:82098300 (GRCh37)
Canonical SPDI:: NC_000010.11:80338543:G:A
Gene:: DYDC1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
HGVS:: NC_000010.11:g.80338544G>A, NC_000010.10:g.82098300G>A, XM_005269550.5:c.427C>T, XM_005269550.4:c.427C>T, XM_005269550.3:c.427C>T, XM_005269550.2:c.427C>T, XM_005269550.1:c.427C>T, XM_005269549.5:c.427C>T, XM_005269549.4:c.427C>T, XM_005269549.3:c.427C>T, XM_005269549.2:c.427C>T, XM_005269549.1:c.427C>T, NM_138812.4:c.427C>T, NM_138812.3:c.427C>T, XM_011539334.3:c.427C>T, XM_011539334.2:c.427C>T, XM_011539334.1:c.427C>T, XM_011539335.2:c.427C>T, XM_011539335.1:c.427C>T, NM_001269053.2:c.427C>T, NM_001269053.1:c.427C>T, XM_017015749.2:c.427C>T, XM_017015749.1:c.427C>T, XM_047424655.1:c.427C>T, NM_001370155.1:c.427C>T, NM_001370156.1:c.427C>T

Select item 139977163317.

rs1399771633 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:80352466 (GRCh38)
10:82112222 (GRCh37)
Canonical SPDI:: NC_000010.11:80352465:T:C
Gene:: DYDC2 (Varview), DYDC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.80352466T>C, NC_000010.10:g.82112222T>C, XM_005269550.5:c.136A>G, XM_005269550.4:c.136A>G, XM_005269550.3:c.136A>G, XM_005269550.2:c.136A>G, XM_005269550.1:c.136A>G, XM_005269549.5:c.136A>G, XM_005269549.4:c.136A>G, XM_005269549.3:c.136A>G, XM_005269549.2:c.136A>G, XM_005269549.1:c.136A>G, NM_138812.4:c.136A>G, NM_138812.3:c.136A>G, XM_011539334.3:c.136A>G, XM_011539334.2:c.136A>G, XM_011539334.1:c.136A>G, NR_070308.2:n.101T>C, NR_070308.1:n.101T>C, XM_011539335.2:c.136A>G, XM_011539335.1:c.136A>G, NM_001269053.2:c.136A>G, NM_001269053.1:c.136A>G, XM_017015749.2:c.136A>G, XM_017015749.1:c.136A>G, XM_047424655.1:c.136A>G, NM_001370155.1:c.136A>G, NM_001370157.1:c.136A>G, NM_001370156.1:c.136A>G, XP_005269607.1:p.Met46Val, XP_005269606.1:p.Met46Val, NP_620167.1:p.Met46Val, XP_011537636.1:p.Met46Val, XP_011537637.1:p.Met46Val, NP_001255982.1:p.Met46Val, XP_016871238.1:p.Met46Val, XP_047280611.1:p.Met46Val, NP_001357084.1:p.Met46Val, NP_001357086.1:p.Met46Val, NP_001357085.1:p.Met46Val

Select item 139892931618.

rs1398929316 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:80338565 (GRCh38)
10:82098321 (GRCh37)
Canonical SPDI:: NC_000010.11:80338564:T:C
Gene:: DYDC1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000010.11:g.80338565T>C, NC_000010.10:g.82098321T>C, XM_005269550.5:c.406A>G, XM_005269550.4:c.406A>G, XM_005269550.3:c.406A>G, XM_005269550.2:c.406A>G, XM_005269550.1:c.406A>G, XM_005269549.5:c.406A>G, XM_005269549.4:c.406A>G, XM_005269549.3:c.406A>G, XM_005269549.2:c.406A>G, XM_005269549.1:c.406A>G, NM_138812.4:c.406A>G, NM_138812.3:c.406A>G, XM_011539334.3:c.406A>G, XM_011539334.2:c.406A>G, XM_011539334.1:c.406A>G, XM_011539335.2:c.406A>G, XM_011539335.1:c.406A>G, NM_001269053.2:c.406A>G, NM_001269053.1:c.406A>G, XM_017015749.2:c.406A>G, XM_017015749.1:c.406A>G, XM_047424655.1:c.406A>G, NM_001370155.1:c.406A>G, NM_001370156.1:c.406A>G, XP_005269607.1:p.Thr136Ala, XP_005269606.1:p.Thr136Ala, NP_620167.1:p.Thr136Ala, XP_011537636.1:p.Thr136Ala, XP_011537637.1:p.Thr136Ala, NP_001255982.1:p.Thr136Ala, XP_016871238.1:p.Thr136Ala, XP_047280611.1:p.Thr136Ala, NP_001357084.1:p.Thr136Ala, NP_001357085.1:p.Thr136Ala

Select item 139251707519.

rs1392517075 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:80352568 (GRCh38)
10:82112324 (GRCh37)
Canonical SPDI:: NC_000010.11:80352567:C:T
Gene:: DYDC2 (Varview), DYDC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.80352568C>T, NC_000010.10:g.82112324C>T, XM_005269550.5:c.34G>A, XM_005269550.4:c.34G>A, XM_005269550.3:c.34G>A, XM_005269550.2:c.34G>A, XM_005269550.1:c.34G>A, XM_005269549.5:c.34G>A, XM_005269549.4:c.34G>A, XM_005269549.3:c.34G>A, XM_005269549.2:c.34G>A, XM_005269549.1:c.34G>A, NM_138812.4:c.34G>A, NM_138812.3:c.34G>A, XM_011539334.3:c.34G>A, XM_011539334.2:c.34G>A, XM_011539334.1:c.34G>A, NR_070308.2:n.203C>T, NR_070308.1:n.203C>T, XM_011539335.2:c.34G>A, XM_011539335.1:c.34G>A, NM_001269053.2:c.34G>A, NM_001269053.1:c.34G>A, XM_017015749.2:c.34G>A, XM_017015749.1:c.34G>A, XM_047424655.1:c.34G>A, NM_001370155.1:c.34G>A, NM_001370157.1:c.34G>A, NM_001370156.1:c.34G>A, XP_005269607.1:p.Ala12Thr, XP_005269606.1:p.Ala12Thr, NP_620167.1:p.Ala12Thr, XP_011537636.1:p.Ala12Thr, XP_011537637.1:p.Ala12Thr, NP_001255982.1:p.Ala12Thr, XP_016871238.1:p.Ala12Thr, XP_047280611.1:p.Ala12Thr, NP_001357084.1:p.Ala12Thr, NP_001357086.1:p.Ala12Thr, NP_001357085.1:p.Ala12Thr

Select item 138385373120.

rs1383853731 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:80338455 (GRCh38)
10:82098211 (GRCh37)
Canonical SPDI:: NC_000010.11:80338454:A:T
Gene:: DYDC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000010.11:g.80338455A>T, NC_000010.10:g.82098211A>T, XM_005269550.5:c.516T>A, XM_005269550.4:c.516T>A, XM_005269550.3:c.516T>A, XM_005269550.2:c.516T>A, XM_005269550.1:c.516T>A, XM_005269549.5:c.516T>A, XM_005269549.4:c.516T>A, XM_005269549.3:c.516T>A, XM_005269549.2:c.516T>A, XM_005269549.1:c.516T>A, XM_011539334.3:c.516T>A, XM_011539334.2:c.516T>A, XM_011539334.1:c.516T>A, XP_005269607.1:p.Ser172Arg, XP_005269606.1:p.Ser172Arg, XP_011537636.1:p.Ser172Arg

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