SNP Links for Gene (Select 2784) - SNP

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Select item 14905454221.

rs1490545422 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:6843250 (GRCh38)
12:6952414 (GRCh37)
Canonical SPDI:: NC_000012.12:6843249:C:T
Gene:: GNB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.6843250C>T, NC_000012.11:g.6952414C>T, NG_009100.2:g.8040C>T, NW_003871083.2:g.44834C>T

Select item 14900571302.

rs1490057130 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:6842884 (GRCh38)
12:6952048 (GRCh37)
Canonical SPDI:: NC_000012.12:6842883:C:A,NC_000012.12:6842883:C:T
Gene:: GNB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000108/2 (ALFA)
A=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000012.12:g.6842884C>A, NC_000012.12:g.6842884C>T, NC_000012.11:g.6952048C>A, NC_000012.11:g.6952048C>T, NG_009100.2:g.7674C>A, NG_009100.2:g.7674C>T, NW_003871083.2:g.44468C>A, NW_003871083.2:g.44468C>T

Select item 14895408593.

rs1489540859 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:6841476 (GRCh38)
12:6950640 (GRCh37)
Canonical SPDI:: NC_000012.12:6841475:A:G
Gene:: GNB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.6841476A>G, NC_000012.11:g.6950640A>G, NG_033740.2:g.18071A>G, NG_033740.1:g.18104A>G, NG_009100.2:g.6266A>G, NW_003871083.2:g.43060A>G

Select item 14885602414.

rs1488560241 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6841074 (GRCh38)
12:6950238 (GRCh37)
Canonical SPDI:: NC_000012.12:6841073:G:A
Gene:: GNB3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.6841074G>A, NC_000012.11:g.6950238G>A, NG_033740.2:g.17669G>A, NG_033740.1:g.17702G>A, NG_009100.2:g.5864G>A, NW_003871083.2:g.42658G>A, XM_047428702.1:c.-214G>A, XM_047428703.1:c.-214G>A

Select item 14884990405.

rs1488499040 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:6840525 (GRCh38)
12:6949690 (GRCh37)
Canonical SPDI:: NC_000012.12:6840525:GGGGGG:GGGGGGG
Gene:: GNB3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGGGGGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.6840531dup, NC_000012.11:g.6949695dup, NG_033740.2:g.17126dup, NG_033740.1:g.17159dup, NG_009100.2:g.5321dup, NW_003871083.2:g.42115dup

Select item 14884688776.

rs1488468877 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:6841164 (GRCh38)
12:6950328 (GRCh37)
Canonical SPDI:: NC_000012.12:6841163:C:T
Gene:: GNB3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00005/1 (ALFA)
T=0.00022/1 (Estonian)
HGVS:: NC_000012.12:g.6841164C>T, NC_000012.11:g.6950328C>T, NG_033740.2:g.17759C>T, NG_033740.1:g.17792C>T, NG_009100.2:g.5954C>T, NW_003871083.2:g.42748C>T, XM_047428702.1:c.-124C>T, XM_047428703.1:c.-124C>T

Select item 14877908467.

rs1487790846 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 12:6847538 (GRCh38)
12:6956702 (GRCh37)
Canonical SPDI:: NC_000012.12:6847537:GGGGG:GGGG,NC_000012.12:6847537:GGGGG:GGGGGG
Gene:: GNB3 (Varview), CDCA3 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.6847542del, NC_000012.12:g.6847542dup, NC_000012.11:g.6956706del, NC_000012.11:g.6956706dup, NG_009100.2:g.12332del, NG_009100.2:g.12332dup, NW_003871083.2:g.49126del, NW_003871083.2:g.49126dup

Select item 14876126268.

rs1487612626 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6840434 (GRCh38)
12:6949598 (GRCh37)
Canonical SPDI:: NC_000012.12:6840433:G:A
Gene:: GNB3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.6840434G>A, NC_000012.11:g.6949598G>A, NG_033740.2:g.17029G>A, NG_033740.1:g.17062G>A, NG_009100.2:g.5224G>A, NW_003871083.2:g.42018G>A

Select item 14875136979.

rs1487513697 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:6840133 (GRCh38)
12:6949297 (GRCh37)
Canonical SPDI:: NC_000012.12:6840132:G:A,NC_000012.12:6840132:G:C
Gene:: GNB3 (Varview), P3H3 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.6840133G>A, NC_000012.12:g.6840133G>C, NC_000012.11:g.6949297G>A, NC_000012.11:g.6949297G>C, NG_033740.2:g.16728G>A, NG_033740.2:g.16728G>C, NG_033740.1:g.16761G>A, NG_033740.1:g.16761G>C, NG_009100.2:g.4923G>A, NG_009100.2:g.4923G>C, NW_003871083.2:g.41717G>A, NW_003871083.2:g.41717G>C

Select item 148740875310.

rs1487408753 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6844251 (GRCh38)
12:6953415 (GRCh37)
Canonical SPDI:: NC_000012.12:6844250:G:A
Gene:: GNB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000022/3 (GnomAD)
A=0.000034/9 (TOPMED)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000012.12:g.6844251G>A, NC_000012.11:g.6953415G>A, NG_009100.2:g.9041G>A, NW_003871083.2:g.45835G>A

Select item 148720818411.

rs1487208184 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:6847410 (GRCh38)
12:6956574 (GRCh37)
Canonical SPDI:: NC_000012.12:6847409:C:T
Gene:: GNB3 (Varview), CDCA3 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.00005/7 (GnomAD)
T=0.000057/15 (TOPMED)
HGVS:: NC_000012.12:g.6847410C>T, NC_000012.11:g.6956574C>T, NG_009100.2:g.12200C>T, NW_003871083.2:g.48994C>T

Select item 148680803612.

rs1486808036 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:6846990 (GRCh38)
12:6956154 (GRCh37)
Canonical SPDI:: NC_000012.12:6846989:C:T
Gene:: GNB3 (Varview), CDCA3 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.6846990C>T, NC_000012.11:g.6956154C>T, NG_009100.2:g.11780C>T, NM_002075.4:c.*92C>T, NM_002075.3:c.*92C>T, NM_002075.2:c.*92C>T, NM_001297571.2:c.*92C>T, NM_001297571.1:c.*92C>T, NW_003871083.2:g.48574C>T, XM_011520953.4:c.*1021C>T, XM_011520953.2:c.*1021C>T, XM_047428702.1:c.*1021C>T, XM_047428703.1:c.*92C>T

Select item 148650741813.

rs1486507418 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:6840591 (GRCh38)
12:6949755 (GRCh37)
Canonical SPDI:: NC_000012.12:6840590:T:C
Gene:: GNB3 (Varview)
Functional Consequence:: 2KB_upstream_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)
C=0.000106/2 (TOMMO)
HGVS:: NC_000012.12:g.6840591T>C, NC_000012.11:g.6949755T>C, NG_033740.2:g.17186T>C, NG_033740.1:g.17219T>C, NG_009100.2:g.5381T>C, NW_003871083.2:g.42175T>C

Select item 148648904514.

rs1486489045 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:6845903 (GRCh38)
12:6955067 (GRCh37)
Canonical SPDI:: NC_000012.12:6845902:T:C
Gene:: GNB3 (Varview), CDCA3 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.6845903T>C, NC_000012.11:g.6955067T>C, NG_009100.2:g.10693T>C, NW_003871083.2:g.47487T>C, XM_011520953.4:c.1017T>C, XM_011520953.3:c.1017T>C, XM_011520953.2:c.1017T>C, XM_011520953.1:c.1017T>C, NM_001297603.3:c.*885A>G, XM_047428702.1:c.1017T>C

Select item 148587104815.

rs1485871048 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 12:6843009 (GRCh38)
12:6952173 (GRCh37)
Canonical SPDI:: NC_000012.12:6843008:C:A,NC_000012.12:6843008:C:G,NC_000012.12:6843008:C:T
Gene:: GNB3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000012.12:g.6843009C>A, NC_000012.12:g.6843009C>G, NC_000012.12:g.6843009C>T, NC_000012.11:g.6952173C>A, NC_000012.11:g.6952173C>G, NC_000012.11:g.6952173C>T, NG_009100.2:g.7799C>A, NG_009100.2:g.7799C>G, NG_009100.2:g.7799C>T, NM_002075.4:c.136C>A, NM_002075.4:c.136C>G, NM_002075.4:c.136C>T, NM_002075.3:c.136C>A, NM_002075.3:c.136C>G, NM_002075.3:c.136C>T, NM_002075.2:c.136C>A, NM_002075.2:c.136C>G, NM_002075.2:c.136C>T, NM_001297571.2:c.136C>A, NM_001297571.2:c.136C>G, NM_001297571.2:c.136C>T, NM_001297571.1:c.136C>A, NM_001297571.1:c.136C>G, NM_001297571.1:c.136C>T, NW_003871083.2:g.44593C>A, NW_003871083.2:g.44593C>G, NW_003871083.2:g.44593C>T, XM_011520953.4:c.136C>A, XM_011520953.4:c.136C>G, XM_011520953.4:c.136C>T, XM_011520953.3:c.136C>A, XM_011520953.3:c.136C>G, XM_011520953.3:c.136C>T, XM_011520953.2:c.136C>A, XM_011520953.2:c.136C>G, XM_011520953.2:c.136C>T, XM_011520953.1:c.136C>A, XM_011520953.1:c.136C>G, XM_011520953.1:c.136C>T, XM_047428702.1:c.136C>A, XM_047428702.1:c.136C>G, XM_047428702.1:c.136C>T, XM_047428703.1:c.136C>A, XM_047428703.1:c.136C>G, XM_047428703.1:c.136C>T, NP_002066.1:p.Arg46Gly, NP_002066.1:p.Arg46Trp, NP_001284500.1:p.Arg46Gly, NP_001284500.1:p.Arg46Trp, XP_011519255.1:p.Arg46Gly, XP_011519255.1:p.Arg46Trp, XP_047284658.1:p.Arg46Gly, XP_047284658.1:p.Arg46Trp, XP_047284659.1:p.Arg46Gly, XP_047284659.1:p.Arg46Trp

Select item 148565658416.

rs1485656584 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6839626 (GRCh38)
12:6948790 (GRCh37)
Canonical SPDI:: NC_000012.12:6839625:G:A
Gene:: GNB3 (Varview), P3H3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000038/10 (TOPMED)
HGVS:: NC_000012.12:g.6839626G>A, NC_000012.11:g.6948790G>A, NG_033740.2:g.16221G>A, NG_033740.1:g.16254G>A, NM_014262.5:c.*165G>A, NM_014262.4:c.*165G>A, NM_014262.3:c.*165G>A, NG_009100.2:g.4416G>A, NW_003871083.2:g.41210G>A

Select item 148495061017.

rs1484950610 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:6845177 (GRCh38)
12:6954341 (GRCh37)
Canonical SPDI:: NC_000012.12:6845176:A:C
Gene:: GNB3 (Varview), CDCA3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_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_000012.12:g.6845177A>C, NC_000012.11:g.6954341A>C, NG_009100.2:g.9967A>C, NW_003871083.2:g.46761A>C, NM_001297603.3:c.*1611T>G

Select item 148391501918.

rs1483915019 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:6841947 (GRCh38)
12:6951111 (GRCh37)
Canonical SPDI:: NC_000012.12:6841946:T:C
Gene:: GNB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.6841947T>C, NC_000012.11:g.6951111T>C, NG_009100.2:g.6737T>C, NW_003871083.2:g.43531T>C

Select item 148383840819.

rs1483838408 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:6845646 (GRCh38)
12:6954810 (GRCh37)
Canonical SPDI:: NC_000012.12:6845645:G:A,NC_000012.12:6845645:G:C
Gene:: GNB3 (Varview), CDCA3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.6845646G>A, NC_000012.12:g.6845646G>C, NC_000012.11:g.6954810G>A, NC_000012.11:g.6954810G>C, NG_009100.2:g.10436G>A, NG_009100.2:g.10436G>C, NM_002075.4:c.760G>A, NM_002075.4:c.760G>C, NM_002075.3:c.760G>A, NM_002075.3:c.760G>C, NM_002075.2:c.760G>A, NM_002075.2:c.760G>C, NM_001297571.2:c.757G>A, NM_001297571.2:c.757G>C, NM_001297571.1:c.757G>A, NM_001297571.1:c.757G>C, NW_003871083.2:g.47230G>A, NW_003871083.2:g.47230G>C, XM_011520953.4:c.760G>A, XM_011520953.4:c.760G>C, XM_011520953.3:c.760G>A, XM_011520953.3:c.760G>C, XM_011520953.2:c.760G>A, XM_011520953.2:c.760G>C, XM_011520953.1:c.760G>A, XM_011520953.1:c.760G>C, NM_001297603.3:c.*1142C>T, NM_001297603.3:c.*1142C>G, XM_047428702.1:c.760G>A, XM_047428702.1:c.760G>C, XM_047428703.1:c.760G>A, XM_047428703.1:c.760G>C, NP_002066.1:p.Asp254Asn, NP_002066.1:p.Asp254His, NP_001284500.1:p.Asp253Asn, NP_001284500.1:p.Asp253His, XP_011519255.1:p.Asp254Asn, XP_011519255.1:p.Asp254His, XP_047284658.1:p.Asp254Asn, XP_047284658.1:p.Asp254His, XP_047284659.1:p.Asp254Asn, XP_047284659.1:p.Asp254His

Select item 148377870120.

rs1483778701 [Homo sapiens]

Variant type:: DEL
Alleles:: AGTCTCCCAAAATATTG>- [Show Flanks]
Chromosome:: 12:6844673 (GRCh38)
12:6953837 (GRCh37)
Canonical SPDI:: NC_000012.12:6844672:AGTCTCCCAAAATATTG:
Gene:: GNB3 (Varview), CDCA3 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.6844673_6844689del, NC_000012.11:g.6953837_6953853del, NG_009100.2:g.9463_9479del, NW_003871083.2:g.46257_46273del

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