SNP Links for Protein (Select 1034634189) - SNP

Links from Protein

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Select item 14879641681.

rs1487964168 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:49015817 (GRCh38)
3:49053250 (GRCh37)
Canonical SPDI:: NC_000003.12:49015816:A:T
Gene:: WDR6 (Varview), DALRD3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.49015817A>T, NC_000003.11:g.49053250A>T, NG_029915.1:g.13614A>T, NM_018031.6:c.*529A>T, NM_018031.5:c.*529A>T, NM_018031.4:c.*529A>T, NM_018031.3:c.*529A>T, NM_001320546.3:c.*529A>T, NM_001320546.2:c.*529A>T, NM_001320546.1:c.*529A>T, NM_001320547.2:c.*529A>T, NM_001320547.1:c.*529A>T, NG_033126.1:g.10255T>A, NM_018114.6:c.998T>A, NM_018114.5:c.998T>A, NM_001009996.3:c.1499T>A, NM_001009996.2:c.1499T>A, NM_001276405.2:c.1473T>A, NM_001276405.1:c.1473T>A, NG_016282.1:g.343A>T, XM_006713219.3:c.998T>A, XM_006713219.2:c.998T>A, XM_006713219.1:c.998T>A, XM_011533891.3:c.1599T>A, XM_011533891.2:c.1599T>A, XM_011533891.1:c.1599T>A, XM_017006723.2:c.972T>A, XM_017006723.1:c.972T>A, XM_047448436.1:c.1499T>A, XM_047448437.1:c.1499T>A, XM_047448438.1:c.998T>A, NM_052826.1:c.*529A>T, NM_052825.1:c.640A>T, NP_060584.3:p.Val333Glu, NP_001009996.1:p.Val500Glu, XP_006713282.1:p.Val333Glu, XP_047304392.1:p.Val500Glu, XP_047304393.1:p.Val500Glu, XP_047304394.1:p.Val333Glu

Select item 14850334282.

rs1485033428 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:49016648 (GRCh38)
3:49054081 (GRCh37)
Canonical SPDI:: NC_000003.12:49016647:C:G
Gene:: DALRD3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.49016648C>G, NC_000003.11:g.49054081C>G, NG_029915.1:g.14445C>G, NG_033126.1:g.9424G>C, NM_018114.6:c.526G>C, NM_018114.5:c.526G>C, NM_001009996.3:c.1027G>C, NM_001009996.2:c.1027G>C, NM_001276405.2:c.1027G>C, NM_001276405.1:c.1027G>C, NG_016282.1:g.1174C>G, XM_006713219.3:c.526G>C, XM_006713219.2:c.526G>C, XM_006713219.1:c.526G>C, XM_011533891.3:c.1027G>C, XM_011533891.2:c.1027G>C, XM_011533891.1:c.1027G>C, XM_017006723.2:c.526G>C, XM_017006723.1:c.526G>C, XM_047448436.1:c.1027G>C, XM_047448437.1:c.1027G>C, XM_047448438.1:c.526G>C, NP_060584.3:p.Ala176Pro, NP_001009996.1:p.Ala343Pro, NP_001263334.1:p.Ala343Pro, XP_006713282.1:p.Ala176Pro, XP_011532193.1:p.Ala343Pro, XP_016862212.1:p.Ala176Pro, XP_047304392.1:p.Ala343Pro, XP_047304393.1:p.Ala343Pro, XP_047304394.1:p.Ala176Pro

Select item 14819787523.

rs1481978752 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:49016180 (GRCh38)
3:49053613 (GRCh37)
Canonical SPDI:: NC_000003.12:49016179:T:C
Gene:: WDR6 (Varview), DALRD3 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.49016180T>C, NC_000003.11:g.49053613T>C, NG_029915.1:g.13977T>C, NG_033126.1:g.9892A>G, NM_018114.6:c.806A>G, NM_018114.5:c.806A>G, NM_001009996.3:c.1307A>G, NM_001009996.2:c.1307A>G, NM_001276405.2:c.1307A>G, NM_001276405.1:c.1307A>G, NG_016282.1:g.706T>C, XM_006713219.3:c.806A>G, XM_006713219.2:c.806A>G, XM_006713219.1:c.806A>G, XM_011533891.3:c.1307A>G, XM_011533891.2:c.1307A>G, XM_011533891.1:c.1307A>G, XM_017006723.2:c.806A>G, XM_017006723.1:c.806A>G, XM_047448436.1:c.1307A>G, XM_047448437.1:c.1307A>G, XM_047448438.1:c.806A>G, NP_060584.3:p.Asp269Gly, NP_001009996.1:p.Asp436Gly, NP_001263334.1:p.Asp436Gly, XP_006713282.1:p.Asp269Gly, XP_011532193.1:p.Asp436Gly, XP_016862212.1:p.Asp269Gly, XP_047304392.1:p.Asp436Gly, XP_047304393.1:p.Asp436Gly, XP_047304394.1:p.Asp269Gly

Select item 14808868124.

rs1480886812 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:49017797 (GRCh38)
3:49055230 (GRCh37)
Canonical SPDI:: NC_000003.12:49017796:G:A
Gene:: DALRD3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.49017797G>A, NC_000003.11:g.49055230G>A, NG_029915.1:g.15594G>A, NG_033126.1:g.8275C>T, NM_018114.6:c.33C>T, NM_018114.5:c.33C>T, NM_001009996.3:c.534C>T, NM_001009996.2:c.534C>T, NM_001276405.2:c.534C>T, NM_001276405.1:c.534C>T, NG_016282.1:g.2323G>A, XM_006713219.3:c.33C>T, XM_006713219.2:c.33C>T, XM_006713219.1:c.33C>T, XM_011533891.3:c.534C>T, XM_011533891.2:c.534C>T, XM_011533891.1:c.534C>T, XM_011533893.3:c.534C>T, XM_011533893.2:c.534C>T, XM_011533893.1:c.534C>T, XM_017006723.2:c.33C>T, XM_017006723.1:c.33C>T, XM_047448436.1:c.534C>T, XM_047448437.1:c.534C>T, XM_047448438.1:c.33C>T

Select item 14800671755.

rs1480067175 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>- [Show Flanks]
Chromosome:: 3:49016053 (GRCh38)
3:49053486 (GRCh37)
Canonical SPDI:: NC_000003.12:49016050:GGGG:GG
Gene:: WDR6 (Varview), DALRD3 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: GGGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.49016053_49016054del, NC_000003.11:g.49053486_49053487del, NG_029915.1:g.13850_13851del, NG_033126.1:g.10020_10021del, NM_018114.6:c.863_864del, NM_018114.5:c.863_864del, NM_001009996.3:c.1364_1365del, NM_001009996.2:c.1364_1365del, NM_001276405.2:c.1338_1339del, NM_001276405.1:c.1338_1339del, NG_016282.1:g.579_580del, XM_006713219.3:c.863_864del, XM_006713219.2:c.863_864del, XM_006713219.1:c.863_864del, XM_011533891.3:c.1364_1365del, XM_011533891.2:c.1364_1365del, XM_011533891.1:c.1364_1365del, XM_017006723.2:c.837_838del, XM_017006723.1:c.837_838del, XM_047448436.1:c.1364_1365del, XM_047448437.1:c.1364_1365del, XM_047448438.1:c.863_864del, NP_060584.3:p.Pro288fs, NP_001009996.1:p.Pro455fs, NP_001263334.1:p.Leu447fs, XP_006713282.1:p.Pro288fs, XP_011532193.1:p.Pro455fs, XP_016862212.1:p.Leu280fs, XP_047304392.1:p.Pro455fs, XP_047304393.1:p.Pro455fs, XP_047304394.1:p.Pro288fs

Select item 14800494296.

rs1480049429 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:49016639 (GRCh38)
3:49054072 (GRCh37)
Canonical SPDI:: NC_000003.12:49016638:G:A
Gene:: DALRD3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.00463/1 (Vietnamese)
HGVS:: NC_000003.12:g.49016639G>A, NC_000003.11:g.49054072G>A, NG_029915.1:g.14436G>A, NG_033126.1:g.9433C>T, NM_018114.6:c.535C>T, NM_018114.5:c.535C>T, NM_001009996.3:c.1036C>T, NM_001009996.2:c.1036C>T, NM_001276405.2:c.1036C>T, NM_001276405.1:c.1036C>T, NG_016282.1:g.1165G>A, XM_006713219.3:c.535C>T, XM_006713219.2:c.535C>T, XM_006713219.1:c.535C>T, XM_011533891.3:c.1036C>T, XM_011533891.2:c.1036C>T, XM_011533891.1:c.1036C>T, XM_017006723.2:c.535C>T, XM_017006723.1:c.535C>T, XM_047448436.1:c.1036C>T, XM_047448437.1:c.1036C>T, XM_047448438.1:c.535C>T

Select item 14793420057.

rs1479342005 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAG>- [Show Flanks]
Chromosome:: 3:49017500 (GRCh38)
3:49054933 (GRCh37)
Canonical SPDI:: NC_000003.12:49017496:GAGGAG:GAG
Gene:: DALRD3 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.49017497GAG[1], NC_000003.11:g.49054930GAG[1], NG_029915.1:g.15294GAG[1], NG_033126.1:g.8570CTC[1], NM_018114.6:c.229CTC[1], NM_018114.5:c.229CTC[1], NM_001009996.3:c.730CTC[1], NM_001009996.2:c.730CTC[1], NM_001276405.2:c.730CTC[1], NM_001276405.1:c.730CTC[1], NG_016282.1:g.2023GAG[1], XM_006713219.3:c.229CTC[1], XM_006713219.2:c.229CTC[1], XM_006713219.1:c.229CTC[1], XM_011533891.3:c.730CTC[1], XM_011533891.2:c.730CTC[1], XM_011533891.1:c.730CTC[1], XM_011533893.3:c.730CTC[1], XM_011533893.2:c.730CTC[1], XM_011533893.1:c.730CTC[1], XM_017006723.2:c.229CTC[1], XM_017006723.1:c.229CTC[1], XM_047448436.1:c.730CTC[1], XM_047448437.1:c.730CTC[1], XM_047448438.1:c.229CTC[1], NP_060584.3:p.Leu78del, NP_001009996.1:p.Leu245del, NP_001263334.1:p.Leu245del, XP_006713282.1:p.Leu78del, XP_011532193.1:p.Leu245del, XP_011532195.1:p.Leu245del, XP_016862212.1:p.Leu78del, XP_047304392.1:p.Leu245del, XP_047304393.1:p.Leu245del, XP_047304394.1:p.Leu78del

Select item 14773426208.

rs1477342620 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTAC>- [Show Flanks]
Chromosome:: 3:49015853 (GRCh38)
3:49053286 (GRCh37)
Canonical SPDI:: NC_000003.12:49015851:CTGTAC:C
Gene:: WDR6 (Varview), DALRD3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.49015853_49015857del, NC_000003.11:g.49053286_49053290del, NG_029915.1:g.13650_13654del, NM_018031.6:c.*565_*569del, NM_018031.5:c.*565_*569del, NM_018031.4:c.*565_*569del, NM_018031.3:c.*565_*569del, NM_001320546.3:c.*565_*569del, NM_001320546.2:c.*565_*569del, NM_001320546.1:c.*565_*569del, NM_001320547.2:c.*565_*569del, NM_001320547.1:c.*565_*569del, NG_033126.1:g.10216_10220del, NM_018114.6:c.959_963del, NM_018114.5:c.959_963del, NM_001009996.3:c.1460_1464del, NM_001009996.2:c.1460_1464del, NM_001276405.2:c.1434_1438del, NM_001276405.1:c.1434_1438del, NG_016282.1:g.379_383del, XM_006713219.3:c.959_963del, XM_006713219.2:c.959_963del, XM_006713219.1:c.959_963del, XM_011533891.3:c.1560_1564del, XM_011533891.2:c.1560_1564del, XM_011533891.1:c.1560_1564del, XM_017006723.2:c.933_937del, XM_017006723.1:c.933_937del, XM_047448436.1:c.1460_1464del, XM_047448437.1:c.1460_1464del, XM_047448438.1:c.959_963del, NM_052826.1:c.*565_*569del, NM_052825.1:c.*25_*29del, NP_060584.3:p.Val320fs, NP_001009996.1:p.Val487fs, NP_001263334.1:p.Thr479fs, XP_006713282.1:p.Val320fs, XP_011532193.1:p.Thr521fs, XP_016862212.1:p.Thr312fs, XP_047304392.1:p.Val487fs, XP_047304393.1:p.Val487fs, XP_047304394.1:p.Val320fs

Select item 14763736549.

rs1476373654 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:49017756 (GRCh38)
3:49055189 (GRCh37)
Canonical SPDI:: NC_000003.12:49017755:C:A
Gene:: DALRD3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.49017756C>A, NC_000003.11:g.49055189C>A, NG_029915.1:g.15553C>A, NG_033126.1:g.8316G>T, NM_018114.6:c.74G>T, NM_018114.5:c.74G>T, NM_001009996.3:c.575G>T, NM_001009996.2:c.575G>T, NM_001276405.2:c.575G>T, NM_001276405.1:c.575G>T, NG_016282.1:g.2282C>A, XM_006713219.3:c.74G>T, XM_006713219.2:c.74G>T, XM_006713219.1:c.74G>T, XM_011533891.3:c.575G>T, XM_011533891.2:c.575G>T, XM_011533891.1:c.575G>T, XM_011533893.3:c.575G>T, XM_011533893.2:c.575G>T, XM_011533893.1:c.575G>T, XM_017006723.2:c.74G>T, XM_017006723.1:c.74G>T, XM_047448436.1:c.575G>T, XM_047448437.1:c.575G>T, XM_047448438.1:c.74G>T, NP_060584.3:p.Arg25Met, NP_001009996.1:p.Arg192Met, NP_001263334.1:p.Arg192Met, XP_006713282.1:p.Arg25Met, XP_011532193.1:p.Arg192Met, XP_011532195.1:p.Arg192Met, XP_016862212.1:p.Arg25Met, XP_047304392.1:p.Arg192Met, XP_047304393.1:p.Arg192Met, XP_047304394.1:p.Arg25Met

Select item 147473289510.

rs1474732895 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:49017440 (GRCh38)
3:49054873 (GRCh37)
Canonical SPDI:: NC_000003.12:49017439:T:C
Gene:: DALRD3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.49017440T>C, NC_000003.11:g.49054873T>C, NG_029915.1:g.15237T>C, NG_033126.1:g.8632A>G, NM_018114.6:c.291A>G, NM_018114.5:c.291A>G, NM_001009996.3:c.792A>G, NM_001009996.2:c.792A>G, NM_001276405.2:c.792A>G, NM_001276405.1:c.792A>G, NG_016282.1:g.1966T>C, XM_006713219.3:c.291A>G, XM_006713219.2:c.291A>G, XM_006713219.1:c.291A>G, XM_011533891.3:c.792A>G, XM_011533891.2:c.792A>G, XM_011533891.1:c.792A>G, XM_011533893.3:c.792A>G, XM_011533893.2:c.792A>G, XM_011533893.1:c.792A>G, XM_017006723.2:c.291A>G, XM_017006723.1:c.291A>G, XM_047448436.1:c.792A>G, XM_047448437.1:c.792A>G, XM_047448438.1:c.291A>G

Select item 147379416911.

rs1473794169 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:49016235 (GRCh38)
3:49053668 (GRCh37)
Canonical SPDI:: NC_000003.12:49016234:T:G
Gene:: WDR6 (Varview), DALRD3 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.49016235T>G, NC_000003.11:g.49053668T>G, NG_029915.1:g.14032T>G, NG_033126.1:g.9837A>C, NM_018114.6:c.751A>C, NM_018114.5:c.751A>C, NM_001009996.3:c.1252A>C, NM_001009996.2:c.1252A>C, NM_001276405.2:c.1252A>C, NM_001276405.1:c.1252A>C, NG_016282.1:g.761T>G, XM_006713219.3:c.751A>C, XM_006713219.2:c.751A>C, XM_006713219.1:c.751A>C, XM_011533891.3:c.1252A>C, XM_011533891.2:c.1252A>C, XM_011533891.1:c.1252A>C, XM_017006723.2:c.751A>C, XM_017006723.1:c.751A>C, XM_047448436.1:c.1252A>C, XM_047448437.1:c.1252A>C, XM_047448438.1:c.751A>C, NP_060584.3:p.Lys251Gln, NP_001009996.1:p.Lys418Gln, NP_001263334.1:p.Lys418Gln, XP_006713282.1:p.Lys251Gln, XP_011532193.1:p.Lys418Gln, XP_016862212.1:p.Lys251Gln, XP_047304392.1:p.Lys418Gln, XP_047304393.1:p.Lys418Gln, XP_047304394.1:p.Lys251Gln

Select item 147181351412.

rs1471813514 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGA [Show Flanks]
Chromosome:: 3:49015687 (GRCh38)
3:49053121 (GRCh37)
Canonical SPDI:: NC_000003.12:49015687:AAGA:AAGAAGA
Gene:: WDR6 (Varview), DALRD3 (Varview)
Functional Consequence:: inframe_insertion,3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: AAG=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.49015689_49015691dup, NC_000003.11:g.49053122_49053124dup, NG_029915.1:g.13486_13488dup, NM_018031.6:c.*401_*403dup, NM_018031.5:c.*401_*403dup, NM_018031.4:c.*401_*403dup, NM_018031.3:c.*401_*403dup, NM_001320546.3:c.*401_*403dup, NM_001320546.2:c.*401_*403dup, NM_001320546.1:c.*401_*403dup, NM_001320547.2:c.*401_*403dup, NM_001320547.1:c.*401_*403dup, NG_033126.1:g.10382_10384dup, NM_018114.6:c.1029_1031dup, NM_018114.5:c.1029_1031dup, NM_001009996.3:c.1530_1532dup, NM_001009996.2:c.1530_1532dup, NM_001276405.2:c.1504_1506dup, NM_001276405.1:c.1504_1506dup, NG_016282.1:g.215_217dup, XM_006713219.3:c.1125_1127dup, XM_006713219.2:c.1125_1127dup, XM_006713219.1:c.1125_1127dup, XM_011533891.3:c.1630_1632dup, XM_011533891.2:c.1630_1632dup, XM_011533891.1:c.1630_1632dup, XM_017006723.2:c.1003_1005dup, XM_017006723.1:c.1003_1005dup, XM_047448436.1:c.1626_1628dup, XM_047448437.1:c.1530_1532dup, XM_047448438.1:c.1029_1031dup, NM_052826.1:c.*401_*403dup, NP_060584.3:p.Phe344dup, NP_001009996.1:p.Phe511dup, NP_001263334.1:p.Leu502dup, XP_006713282.1:p.Phe376dup, XP_011532193.1:p.Leu544dup, XP_016862212.1:p.Leu335dup, XP_047304392.1:p.Phe543dup, XP_047304393.1:p.Phe511dup, XP_047304394.1:p.Phe344dup

Select item 147056309613.

rs1470563096 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:49017746 (GRCh38)
3:49055179 (GRCh37)
Canonical SPDI:: NC_000003.12:49017745:G:A
Gene:: DALRD3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.49017746G>A, NC_000003.11:g.49055179G>A, NG_029915.1:g.15543G>A, NG_033126.1:g.8326C>T, NM_018114.6:c.84C>T, NM_018114.5:c.84C>T, NM_001009996.3:c.585C>T, NM_001009996.2:c.585C>T, NM_001276405.2:c.585C>T, NM_001276405.1:c.585C>T, NG_016282.1:g.2272G>A, XM_006713219.3:c.84C>T, XM_006713219.2:c.84C>T, XM_006713219.1:c.84C>T, XM_011533891.3:c.585C>T, XM_011533891.2:c.585C>T, XM_011533891.1:c.585C>T, XM_011533893.3:c.585C>T, XM_011533893.2:c.585C>T, XM_011533893.1:c.585C>T, XM_017006723.2:c.84C>T, XM_017006723.1:c.84C>T, XM_047448436.1:c.585C>T, XM_047448437.1:c.585C>T, XM_047448438.1:c.84C>T

Select item 147052330014.

rs1470523300 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 3:49016781 (GRCh38)
3:49054214 (GRCh37)
Canonical SPDI:: NC_000003.12:49016780:A:C,NC_000003.12:49016780:A:G
Gene:: DALRD3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.49016781A>C, NC_000003.12:g.49016781A>G, NC_000003.11:g.49054214A>C, NC_000003.11:g.49054214A>G, NG_029915.1:g.14578A>C, NG_029915.1:g.14578A>G, NG_033126.1:g.9291T>G, NG_033126.1:g.9291T>C, NM_018114.6:c.493T>G, NM_018114.6:c.493T>C, NM_018114.5:c.493T>G, NM_018114.5:c.493T>C, NM_001009996.3:c.994T>G, NM_001009996.3:c.994T>C, NM_001009996.2:c.994T>G, NM_001009996.2:c.994T>C, NM_001276405.2:c.994T>G, NM_001276405.2:c.994T>C, NM_001276405.1:c.994T>G, NM_001276405.1:c.994T>C, NG_016282.1:g.1307A>C, NG_016282.1:g.1307A>G, XM_006713219.3:c.493T>G, XM_006713219.3:c.493T>C, XM_006713219.2:c.493T>G, XM_006713219.2:c.493T>C, XM_006713219.1:c.493T>G, XM_006713219.1:c.493T>C, XM_011533891.3:c.994T>G, XM_011533891.3:c.994T>C, XM_011533891.2:c.994T>G, XM_011533891.2:c.994T>C, XM_011533891.1:c.994T>G, XM_011533891.1:c.994T>C, XM_011533893.3:c.994T>G, XM_011533893.3:c.994T>C, XM_011533893.2:c.994T>G, XM_011533893.2:c.994T>C, XM_011533893.1:c.994T>G, XM_011533893.1:c.994T>C, XM_017006723.2:c.493T>G, XM_017006723.2:c.493T>C, XM_017006723.1:c.493T>G, XM_017006723.1:c.493T>C, XM_047448436.1:c.994T>G, XM_047448436.1:c.994T>C, XM_047448437.1:c.994T>G, XM_047448437.1:c.994T>C, XM_047448438.1:c.493T>G, XM_047448438.1:c.493T>C, NP_060584.3:p.Tyr165Asp, NP_060584.3:p.Tyr165His, NP_001009996.1:p.Tyr332Asp, NP_001009996.1:p.Tyr332His, NP_001263334.1:p.Tyr332Asp, NP_001263334.1:p.Tyr332His, XP_006713282.1:p.Tyr165Asp, XP_006713282.1:p.Tyr165His, XP_011532193.1:p.Tyr332Asp, XP_011532193.1:p.Tyr332His, XP_011532195.1:p.Tyr332Asp, XP_011532195.1:p.Tyr332His, XP_016862212.1:p.Tyr165Asp, XP_016862212.1:p.Tyr165His, XP_047304392.1:p.Tyr332Asp, XP_047304392.1:p.Tyr332His, XP_047304393.1:p.Tyr332Asp, XP_047304393.1:p.Tyr332His, XP_047304394.1:p.Tyr165Asp, XP_047304394.1:p.Tyr165His

Select item 146710364215.

rs1467103642 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:49016207 (GRCh38)
3:49053640 (GRCh37)
Canonical SPDI:: NC_000003.12:49016206:G:A
Gene:: WDR6 (Varview), DALRD3 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,500B_downstream_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.49016207G>A, NC_000003.11:g.49053640G>A, NG_029915.1:g.14004G>A, NG_033126.1:g.9865C>T, NM_018114.6:c.779C>T, NM_018114.5:c.779C>T, NM_001009996.3:c.1280C>T, NM_001009996.2:c.1280C>T, NM_001276405.2:c.1280C>T, NM_001276405.1:c.1280C>T, NG_016282.1:g.733G>A, XM_006713219.3:c.779C>T, XM_006713219.2:c.779C>T, XM_006713219.1:c.779C>T, XM_011533891.3:c.1280C>T, XM_011533891.2:c.1280C>T, XM_011533891.1:c.1280C>T, XM_017006723.2:c.779C>T, XM_017006723.1:c.779C>T, XM_047448436.1:c.1280C>T, XM_047448437.1:c.1280C>T, XM_047448438.1:c.779C>T, NP_060584.3:p.Pro260Leu, NP_001009996.1:p.Pro427Leu, NP_001263334.1:p.Pro427Leu, XP_006713282.1:p.Pro260Leu, XP_011532193.1:p.Pro427Leu, XP_016862212.1:p.Pro260Leu, XP_047304392.1:p.Pro427Leu, XP_047304393.1:p.Pro427Leu, XP_047304394.1:p.Pro260Leu

Select item 146625128616.

rs1466251286 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:49016262 (GRCh38)
3:49053695 (GRCh37)
Canonical SPDI:: NC_000003.12:49016261:G:A
Gene:: WDR6 (Varview), DALRD3 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,500B_downstream_variant,genic_downstream_transcript_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.49016262G>A, NC_000003.11:g.49053695G>A, NG_029915.1:g.14059G>A, NG_033126.1:g.9810C>T, NM_018114.6:c.724C>T, NM_018114.5:c.724C>T, NM_001009996.3:c.1225C>T, NM_001009996.2:c.1225C>T, NM_001276405.2:c.1225C>T, NM_001276405.1:c.1225C>T, NG_016282.1:g.788G>A, XM_006713219.3:c.724C>T, XM_006713219.2:c.724C>T, XM_006713219.1:c.724C>T, XM_011533891.3:c.1225C>T, XM_011533891.2:c.1225C>T, XM_011533891.1:c.1225C>T, XM_017006723.2:c.724C>T, XM_017006723.1:c.724C>T, XM_047448436.1:c.1225C>T, XM_047448437.1:c.1225C>T, XM_047448438.1:c.724C>T, NP_060584.3:p.Arg242Cys, NP_001009996.1:p.Arg409Cys, NP_001263334.1:p.Arg409Cys, XP_006713282.1:p.Arg242Cys, XP_011532193.1:p.Arg409Cys, XP_016862212.1:p.Arg242Cys, XP_047304392.1:p.Arg409Cys, XP_047304393.1:p.Arg409Cys, XP_047304394.1:p.Arg242Cys

Select item 146336791717.

rs1463367917 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:49017687 (GRCh38)
3:49055120 (GRCh37)
Canonical SPDI:: NC_000003.12:49017686:C:G
Gene:: DALRD3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.49017687C>G, NC_000003.11:g.49055120C>G, NG_029915.1:g.15484C>G, NG_033126.1:g.8385G>C, NM_018114.6:c.143G>C, NM_018114.5:c.143G>C, NM_001009996.3:c.644G>C, NM_001009996.2:c.644G>C, NM_001276405.2:c.644G>C, NM_001276405.1:c.644G>C, NG_016282.1:g.2213C>G, XM_006713219.3:c.143G>C, XM_006713219.2:c.143G>C, XM_006713219.1:c.143G>C, XM_011533891.3:c.644G>C, XM_011533891.2:c.644G>C, XM_011533891.1:c.644G>C, XM_011533893.3:c.644G>C, XM_011533893.2:c.644G>C, XM_011533893.1:c.644G>C, XM_017006723.2:c.143G>C, XM_017006723.1:c.143G>C, XM_047448436.1:c.644G>C, XM_047448437.1:c.644G>C, XM_047448438.1:c.143G>C, NP_060584.3:p.Arg48Thr, NP_001009996.1:p.Arg215Thr, NP_001263334.1:p.Arg215Thr, XP_006713282.1:p.Arg48Thr, XP_011532193.1:p.Arg215Thr, XP_011532195.1:p.Arg215Thr, XP_016862212.1:p.Arg48Thr, XP_047304392.1:p.Arg215Thr, XP_047304393.1:p.Arg215Thr, XP_047304394.1:p.Arg48Thr

Select item 145449043818.

rs1454490438 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:49017279 (GRCh38)
3:49054712 (GRCh37)
Canonical SPDI:: NC_000003.12:49017278:C:T
Gene:: DALRD3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.49017279C>T, NC_000003.11:g.49054712C>T, NG_029915.1:g.15076C>T, NG_033126.1:g.8793G>A, NM_018114.6:c.375G>A, NM_018114.5:c.375G>A, NM_001009996.3:c.876G>A, NM_001009996.2:c.876G>A, NM_001276405.2:c.876G>A, NM_001276405.1:c.876G>A, NG_016282.1:g.1805C>T, XM_006713219.3:c.375G>A, XM_006713219.2:c.375G>A, XM_006713219.1:c.375G>A, XM_011533891.3:c.876G>A, XM_011533891.2:c.876G>A, XM_011533891.1:c.876G>A, XM_011533893.3:c.876G>A, XM_011533893.2:c.876G>A, XM_011533893.1:c.876G>A, XM_017006723.2:c.375G>A, XM_017006723.1:c.375G>A, XM_047448436.1:c.876G>A, XM_047448437.1:c.876G>A, XM_047448438.1:c.375G>A

Select item 145178241519.

rs1451782415 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:49017652 (GRCh38)
3:49055085 (GRCh37)
Canonical SPDI:: NC_000003.12:49017651:G:C
Gene:: DALRD3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.49017652G>C, NC_000003.11:g.49055085G>C, NG_029915.1:g.15449G>C, NG_033126.1:g.8420C>G, NM_018114.6:c.178C>G, NM_018114.5:c.178C>G, NM_001009996.3:c.679C>G, NM_001009996.2:c.679C>G, NM_001276405.2:c.679C>G, NM_001276405.1:c.679C>G, NG_016282.1:g.2178G>C, XM_006713219.3:c.178C>G, XM_006713219.2:c.178C>G, XM_006713219.1:c.178C>G, XM_011533891.3:c.679C>G, XM_011533891.2:c.679C>G, XM_011533891.1:c.679C>G, XM_011533893.3:c.679C>G, XM_011533893.2:c.679C>G, XM_011533893.1:c.679C>G, XM_017006723.2:c.178C>G, XM_017006723.1:c.178C>G, XM_047448436.1:c.679C>G, XM_047448437.1:c.679C>G, XM_047448438.1:c.178C>G, NP_060584.3:p.Arg60Gly, NP_001009996.1:p.Arg227Gly, NP_001263334.1:p.Arg227Gly, XP_006713282.1:p.Arg60Gly, XP_011532193.1:p.Arg227Gly, XP_011532195.1:p.Arg227Gly, XP_016862212.1:p.Arg60Gly, XP_047304392.1:p.Arg227Gly, XP_047304393.1:p.Arg227Gly, XP_047304394.1:p.Arg60Gly

Select item 145127517120.

rs1451275171 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTCAG [Show Flanks]
Chromosome:: 3:49016782 (GRCh38)
3:49054216 (GRCh37)
Canonical SPDI:: NC_000003.12:49016782:TCAG:TCAGTTCAG
Gene:: DALRD3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCAGTTCAG=0.000071/1 (ALFA)
TCAGT=0.000007/1 (GnomAD)
TCAGT=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.49016786_49016787insTTCAG, NC_000003.11:g.49054219_49054220insTTCAG, NG_029915.1:g.14583_14584insTTCAG, NG_033126.1:g.9289_9290insACTGA, NM_018114.6:c.491_492insACTGA, NM_018114.5:c.491_492insACTGA, NM_001009996.3:c.992_993insACTGA, NM_001009996.2:c.992_993insACTGA, NM_001276405.2:c.992_993insACTGA, NM_001276405.1:c.992_993insACTGA, NG_016282.1:g.1312_1313insTTCAG, XM_006713219.3:c.491_492insACTGA, XM_006713219.2:c.491_492insACTGA, XM_006713219.1:c.491_492insACTGA, XM_011533891.3:c.992_993insACTGA, XM_011533891.2:c.992_993insACTGA, XM_011533891.1:c.992_993insACTGA, XM_011533893.3:c.992_993insACTGA, XM_011533893.2:c.992_993insACTGA, XM_011533893.1:c.992_993insACTGA, XM_017006723.2:c.491_492insACTGA, XM_017006723.1:c.491_492insACTGA, XM_047448436.1:c.992_993insACTGA, XM_047448437.1:c.992_993insACTGA, XM_047448438.1:c.491_492insACTGA, NP_060584.3:p.Tyr165fs, NP_001009996.1:p.Tyr332fs, NP_001263334.1:p.Tyr332fs, XP_006713282.1:p.Tyr165fs, XP_011532193.1:p.Tyr332fs, XP_011532195.1:p.Tyr332fs, XP_016862212.1:p.Tyr165fs, XP_047304392.1:p.Tyr332fs, XP_047304393.1:p.Tyr332fs, XP_047304394.1:p.Tyr165fs

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