SNP Links for Gene (Select 23277) - SNP

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Select item 14915425411.

rs1491542541 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 17:2691939 (GRCh38)
17:2595233 (GRCh37)
Canonical SPDI:: NC_000017.11:2691938:GG:
Gene:: CLUH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0./0 (ExAC)
-=0.0001/7 (GnomAD_exomes)
-=0.00022/3 (TOMMO)
-=0.00065/59 (GnomAD)
-=0.00673/4 (NorthernSweden)
HGVS:: NC_000017.11:g.2691939_2691940del, NC_000017.10:g.2595233_2595234del

Select item 14914295142.

rs1491429514 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TACACATACATACTTATGTGTGCGTGTGTATATA [Show Flanks]
Chromosome:: 17:2713624 (GRCh38)
17:2616919 (GRCh37)
Canonical SPDI:: NC_000017.11:2713624:GTGTGTATATATACACATACATACTTATGTGTGCGTGTGTATATA:GTGTGTATATATACACATACATACTTATGTGTGCGTGTGTATATATACACATACATACTTATGTGTGCGTGTGTATATA
Gene:: CLUH (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: GTGTGTATATATACACATACATACTTATGTGTGC=0.000072/10 (GnomAD)
HGVS:: NC_000017.11:g.2713636_2713669dup, NC_000017.10:g.2616930_2616963dup

Select item 14914102253.

rs1491410225 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 17:2693004 (GRCh38)
17:2596298 (GRCh37)
Canonical SPDI:: NC_000017.11:2693002:GAG:G
Gene:: CLUH (Varview), MIR6776 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0./0 (GnomAD)
HGVS:: NC_000017.11:g.2693004_2693005del, NC_000017.10:g.2596298_2596299del

Select item 14912712874.

rs1491271287 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 17:2708872 (GRCh38)
17:2612166 (GRCh37)
Canonical SPDI:: NC_000017.11:2708870:GAG:G
Gene:: CLUH (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.03069/364 (ALFA)
-=0.02658/410 (TOMMO)
-=0.03717/20 (NorthernSweden)
-=0.04438/3760 (GnomAD)
HGVS:: NC_000017.11:g.2708872_2708873del, NC_000017.10:g.2612166_2612167del

Select item 14912706745.

rs1491270674 has merged into rs752956639 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCCCC,CCCCCCC [Show Flanks]
Chromosome:: 17:2691976 (GRCh38)
17:2595270 (GRCh37)
Canonical SPDI:: NC_000017.11:2691972:CCCCC:CCC,NC_000017.11:2691972:CCCCC:CCCC,NC_000017.11:2691972:CCCCC:CCCCCC,NC_000017.11:2691972:CCCCC:CCCCCCCCC,NC_000017.11:2691972:CCCCC:CCCCCCCCCC
Gene:: CLUH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCC=0./0 (ALFA)
-=0.01631/490 (GnomAD_exomes)
-=0.22727/125 (NorthernSweden)
-=0.24566/311 (Korea1K)
HGVS:: NC_000017.11:g.2691976_2691977del, NC_000017.11:g.2691977del, NC_000017.11:g.2691977dup, NC_000017.11:g.2691974_2691977dup, NC_000017.11:g.2691973_2691977dup, NC_000017.10:g.2595270_2595271del, NC_000017.10:g.2595271del, NC_000017.10:g.2595271dup, NC_000017.10:g.2595268_2595271dup, NC_000017.10:g.2595267_2595271dup

Select item 14912333596.

rs1491233359 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 17:2708860 (GRCh38)
17:2612154 (GRCh37)
Canonical SPDI:: NC_000017.11:2708859:CG:
Gene:: CLUH (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.03111/369 (ALFA)
-=0.00016/6 (GnomAD)
HGVS:: NC_000017.11:g.2708860_2708861del, NC_000017.10:g.2612154_2612155del

Select item 14911466837.

rs1491146683 has merged into rs5818873 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CC,CCCC [Show Flanks]
Chromosome:: 17:2691926 (GRCh38)
17:2595220 (GRCh37)
Canonical SPDI:: NC_000017.11:2691921:CCCCCCC:CCCC,NC_000017.11:2691921:CCCCCCC:CCCCC,NC_000017.11:2691921:CCCCCCC:CCCCCC,NC_000017.11:2691921:CCCCCCC:CCCCCCCC
Gene:: CLUH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCC=0./0 (ALFA)
C=0.075/3 (GENOME_DK)
C=0.115415/578 (1000Genomes)
C=0.277506/73453 (TOPMED)
HGVS:: NC_000017.11:g.2691926_2691928del, NC_000017.11:g.2691927_2691928del, NC_000017.11:g.2691928del, NC_000017.11:g.2691928dup, NC_000017.10:g.2595220_2595222del, NC_000017.10:g.2595221_2595222del, NC_000017.10:g.2595222del, NC_000017.10:g.2595222dup

Select item 14911389758.

rs1491138975 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 17:2713629 (GRCh38)
17:2616923 (GRCh37)
Canonical SPDI:: NC_000017.11:2713623:TGTGTGT:TGTGT
Gene:: CLUH (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000106/3 (TOMMO)
HGVS:: NC_000017.11:g.2713625GT[2], NC_000017.10:g.2616919GT[2]

Select item 14907480039.

rs1490748003 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:2690958 (GRCh38)
17:2594252 (GRCh37)
Canonical SPDI:: NC_000017.11:2690957:G:A
Gene:: CLUH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.2690958G>A, NC_000017.10:g.2594252G>A

Select item 149070818010.

rs1490708180 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:2690622 (GRCh38)
17:2593916 (GRCh37)
Canonical SPDI:: NC_000017.11:2690621:T:A
Gene:: CLUH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.2690622T>A, NC_000017.10:g.2593916T>A, NM_015229.4:c.4016A>T, NM_015229.3:c.3902A>T, XM_011523768.4:c.3905A>T, XM_011523768.3:c.3905A>T, XM_011523768.2:c.3905A>T, XM_011523768.1:c.3905A>T, XM_024450675.2:c.4487A>T, XM_024450675.1:c.4724A>T, XM_024450676.2:c.4484A>T, XM_024450676.1:c.4721A>T, XM_024450679.2:c.3905A>T, XM_024450679.1:c.3905A>T, NM_001366661.1:c.4019A>T, XM_047435695.1:c.3902A>T, NM_001366662.1:c.3902A>T, XM_047435694.1:c.3902A>T, XM_047435693.1:c.3905A>T, XM_047435692.1:c.3905A>T, NP_056044.4:p.Lys1339Met, XP_011522070.1:p.Lys1302Met, XP_024306443.2:p.Lys1496Met, XP_024306444.2:p.Lys1495Met, XP_024306447.1:p.Lys1302Met, NP_001353590.1:p.Lys1340Met, XP_047291651.1:p.Lys1301Met, NP_001353591.1:p.Lys1301Met, XP_047291650.1:p.Lys1301Met, XP_047291649.1:p.Lys1302Met, XP_047291648.1:p.Lys1302Met

Select item 149054840711.

rs1490548407 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:2690385 (GRCh38)
17:2593679 (GRCh37)
Canonical SPDI:: NC_000017.11:2690384:C:T
Gene:: CLUH (Varview)
Functional Consequence:: 3_prime_UTR_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_000017.11:g.2690385C>T, NC_000017.10:g.2593679C>T, NM_015229.4:c.*209G>A, NM_015229.3:c.*209G>A, XM_011523768.4:c.*209G>A, XM_011523768.3:c.*209G>A, XM_011523768.2:c.*209G>A, XM_011523768.1:c.*209G>A, XM_024450675.2:c.*209G>A, XM_024450675.1:c.*209G>A, XM_024450676.2:c.*209G>A, XM_024450676.1:c.*209G>A, XM_024450679.2:c.*209G>A, XM_024450679.1:c.*209G>A, NM_001366661.1:c.*209G>A, XM_047435695.1:c.*209G>A, NM_001366662.1:c.*209G>A, XM_047435694.1:c.*209G>A, XM_047435693.1:c.*209G>A, XM_047435692.1:c.*209G>A

Select item 149051899712.

rs1490518997 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:2693036 (GRCh38)
17:2596330 (GRCh37)
Canonical SPDI:: NC_000017.11:2693035:G:A
Gene:: CLUH (Varview), MIR6776 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.2693036G>A, NC_000017.10:g.2596330G>A

Select item 149039614913.

rs1490396149 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:2711924 (GRCh38)
17:2615218 (GRCh37)
Canonical SPDI:: NC_000017.11:2711923:C:T
Gene:: CLUH (Varview), LOC105371592 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00006/1 (TOMMO)
HGVS:: NC_000017.11:g.2711924C>T, NC_000017.10:g.2615218C>T

Select item 149028216314.

rs1490282163 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:2695515 (GRCh38)
17:2598809 (GRCh37)
Canonical SPDI:: NC_000017.11:2695514:G:A,NC_000017.11:2695514:G:T
Gene:: CLUH (Varview)
Functional Consequence:: stop_gained,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.00004/1 (TOMMO)
HGVS:: NC_000017.11:g.2695515G>A, NC_000017.11:g.2695515G>T, NC_000017.10:g.2598809G>A, NC_000017.10:g.2598809G>T, NM_015229.4:c.2400C>T, NM_015229.4:c.2400C>A, NM_015229.3:c.2286C>T, NM_015229.3:c.2286C>A, XM_011523768.4:c.2289C>T, XM_011523768.4:c.2289C>A, XM_011523768.3:c.2289C>T, XM_011523768.3:c.2289C>A, XM_011523768.2:c.2289C>T, XM_011523768.2:c.2289C>A, XM_011523768.1:c.2289C>T, XM_011523768.1:c.2289C>A, XM_024450675.2:c.2871C>T, XM_024450675.2:c.2871C>A, XM_024450675.1:c.3108C>T, XM_024450675.1:c.3108C>A, XM_024450676.2:c.2868C>T, XM_024450676.2:c.2868C>A, XM_024450676.1:c.3105C>T, XM_024450676.1:c.3105C>A, XM_024450679.2:c.2289C>T, XM_024450679.2:c.2289C>A, XM_024450679.1:c.2289C>T, XM_024450679.1:c.2289C>A, NM_001366661.1:c.2403C>T, NM_001366661.1:c.2403C>A, XM_047435695.1:c.2286C>T, XM_047435695.1:c.2286C>A, NM_001366662.1:c.2286C>T, NM_001366662.1:c.2286C>A, XM_047435694.1:c.2286C>T, XM_047435694.1:c.2286C>A, XM_047435693.1:c.2289C>T, XM_047435693.1:c.2289C>A, XM_047435692.1:c.2289C>T, XM_047435692.1:c.2289C>A, NP_056044.4:p.Cys800Ter, XP_011522070.1:p.Cys763Ter, XP_024306443.2:p.Cys957Ter, XP_024306444.2:p.Cys956Ter, XP_024306447.1:p.Cys763Ter, NP_001353590.1:p.Cys801Ter, XP_047291651.1:p.Cys762Ter, NP_001353591.1:p.Cys762Ter, XP_047291650.1:p.Cys762Ter, XP_047291649.1:p.Cys763Ter, XP_047291648.1:p.Cys763Ter

Select item 149006408415.

rs1490064084 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:2712775 (GRCh38)
17:2616069 (GRCh37)
Canonical SPDI:: NC_000017.11:2712774:G:A,NC_000017.11:2712774:G:C
Gene:: CLUH (Varview), LOC105371592 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_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_000017.11:g.2712775G>A, NC_000017.11:g.2712775G>C, NC_000017.10:g.2616069G>A, NC_000017.10:g.2616069G>C, NR_136412.1:n.385G>A, NR_136412.1:n.385G>C

Select item 148951324016.

rs1489513240 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:2692780 (GRCh38)
17:2596074 (GRCh37)
Canonical SPDI:: NC_000017.11:2692779:G:A
Gene:: CLUH (Varview), MIR6776 (Varview)
Functional Consequence:: synonymous_variant,downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000021/5 (GnomAD_exomes)
HGVS:: NC_000017.11:g.2692780G>A, NC_000017.10:g.2596074G>A, NM_015229.4:c.3309C>T, NM_015229.3:c.3195C>T, XM_011523768.4:c.3198C>T, XM_011523768.3:c.3198C>T, XM_011523768.2:c.3198C>T, XM_011523768.1:c.3198C>T, XM_024450675.2:c.3780C>T, XM_024450675.1:c.4017C>T, XM_024450676.2:c.3777C>T, XM_024450676.1:c.4014C>T, XM_024450679.2:c.3198C>T, XM_024450679.1:c.3198C>T, NM_001366661.1:c.3312C>T, XM_047435695.1:c.3195C>T, NM_001366662.1:c.3195C>T, XM_047435694.1:c.3195C>T, XM_047435693.1:c.3198C>T, XM_047435692.1:c.3198C>T

Select item 148937931317.

rs1489379313 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 17:2689509 (GRCh38)
17:2592803 (GRCh37)
Canonical SPDI:: NC_000017.11:2689508:T:A,NC_000017.11:2689508:T:C
Gene:: CLUH (Varview), LOC105371490 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000045/12 (TOPMED)
HGVS:: NC_000017.11:g.2689509T>A, NC_000017.11:g.2689509T>C, NC_000017.10:g.2592803T>A, NC_000017.10:g.2592803T>C, NM_015229.4:c.*1085A>T, NM_015229.4:c.*1085A>G, NM_015229.3:c.*1085A>T, NM_015229.3:c.*1085A>G, XM_011523768.4:c.*1085A>T, XM_011523768.4:c.*1085A>G, XM_011523768.3:c.*1085A>T, XM_011523768.3:c.*1085A>G, XM_011523768.2:c.*1085A>T, XM_011523768.2:c.*1085A>G, XM_011523768.1:c.*1085A>T, XM_011523768.1:c.*1085A>G, XM_024450675.2:c.*1085A>T, XM_024450675.2:c.*1085A>G, XM_024450675.1:c.*1085A>T, XM_024450675.1:c.*1085A>G, XM_024450676.2:c.*1085A>T, XM_024450676.2:c.*1085A>G, XM_024450676.1:c.*1085A>T, XM_024450676.1:c.*1085A>G, XM_024450679.2:c.*1085A>T, XM_024450679.2:c.*1085A>G, XM_024450679.1:c.*1085A>T, XM_024450679.1:c.*1085A>G, NM_001366661.1:c.*1085A>T, NM_001366661.1:c.*1085A>G, XM_047435695.1:c.*1085A>T, XM_047435695.1:c.*1085A>G, NM_001366662.1:c.*1085A>T, NM_001366662.1:c.*1085A>G, XM_047435694.1:c.*1085A>T, XM_047435694.1:c.*1085A>G, XM_047435693.1:c.*1085A>T, XM_047435693.1:c.*1085A>G, XM_047435692.1:c.*1085A>T, XM_047435692.1:c.*1085A>G

Select item 148937288318.

rs1489372883 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:2689527 (GRCh38)
17:2592821 (GRCh37)
Canonical SPDI:: NC_000017.11:2689526:C:T
Gene:: CLUH (Varview), LOC105371490 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.2689527C>T, NC_000017.10:g.2592821C>T, NM_015229.4:c.*1067G>A, NM_015229.3:c.*1067G>A, XM_011523768.4:c.*1067G>A, XM_011523768.3:c.*1067G>A, XM_011523768.2:c.*1067G>A, XM_011523768.1:c.*1067G>A, XM_024450675.2:c.*1067G>A, XM_024450675.1:c.*1067G>A, XM_024450676.2:c.*1067G>A, XM_024450676.1:c.*1067G>A, XM_024450679.2:c.*1067G>A, XM_024450679.1:c.*1067G>A, NM_001366661.1:c.*1067G>A, XM_047435695.1:c.*1067G>A, NM_001366662.1:c.*1067G>A, XM_047435694.1:c.*1067G>A, XM_047435693.1:c.*1067G>A, XM_047435692.1:c.*1067G>A

Select item 148924879519.

rs1489248795 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:2698734 (GRCh38)
17:2602028 (GRCh37)
Canonical SPDI:: NC_000017.11:2698733:G:A
Gene:: CLUH (Varview)
Functional Consequence:: intron_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_000017.11:g.2698734G>A, NC_000017.10:g.2602028G>A

Select item 148900224120.

rs1489002241 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:2696189 (GRCh38)
17:2599483 (GRCh37)
Canonical SPDI:: NC_000017.11:2696188:G:A,NC_000017.11:2696188:G:C
Gene:: CLUH (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.2696189G>A, NC_000017.11:g.2696189G>C, NC_000017.10:g.2599483G>A, NC_000017.10:g.2599483G>C, NM_015229.4:c.2358C>T, NM_015229.4:c.2358C>G, NM_015229.3:c.2244C>T, NM_015229.3:c.2244C>G, XM_011523768.4:c.2247C>T, XM_011523768.4:c.2247C>G, XM_011523768.3:c.2247C>T, XM_011523768.3:c.2247C>G, XM_011523768.2:c.2247C>T, XM_011523768.2:c.2247C>G, XM_011523768.1:c.2247C>T, XM_011523768.1:c.2247C>G, XM_024450675.2:c.2829C>T, XM_024450675.2:c.2829C>G, XM_024450675.1:c.3066C>T, XM_024450675.1:c.3066C>G, XM_024450676.2:c.2826C>T, XM_024450676.2:c.2826C>G, XM_024450676.1:c.3063C>T, XM_024450676.1:c.3063C>G, XM_024450679.2:c.2247C>T, XM_024450679.2:c.2247C>G, XM_024450679.1:c.2247C>T, XM_024450679.1:c.2247C>G, NM_001366661.1:c.2361C>T, NM_001366661.1:c.2361C>G, XM_047435695.1:c.2244C>T, XM_047435695.1:c.2244C>G, NM_001366662.1:c.2244C>T, NM_001366662.1:c.2244C>G, XM_047435694.1:c.2244C>T, XM_047435694.1:c.2244C>G, XM_047435693.1:c.2247C>T, XM_047435693.1:c.2247C>G, XM_047435692.1:c.2247C>T, XM_047435692.1:c.2247C>G

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