SNP Links for Gene (Select 124936) - SNP

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Select item 14913005941.

rs1491300594 has merged into rs146367581 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC,CCC [Show Flanks]
Chromosome:: 17:4144096 (GRCh38)
17:4047390 (GRCh37)
Canonical SPDI:: NC_000017.11:4144095:CCCCCCCC:CCCCCCC,NC_000017.11:4144095:CCCCCCCC:CCCCCCCCC,NC_000017.11:4144095:CCCCCCCC:CCCCCCCCCC
Gene:: ZZEF1 (Varview), CYB5D2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCC=0.0002/3 (ALFA)
-=0.00095/16 (TOMMO)
-=0.00164/3 (Korea1K)
-=0.0187/93 (1000Genomes)
-=0.06/36 (NorthernSweden)
-=0.07012/260 (TWINSUK)
-=0.07315/73 (GoNL)
-=0.075/3 (GENOME_DK)
-=0.07602/293 (ALSPAC)
-=0.08426/377 (Estonian)
HGVS:: NC_000017.11:g.4144103del, NC_000017.11:g.4144103dup, NC_000017.11:g.4144102_4144103dup, NC_000017.10:g.4047397del, NC_000017.10:g.4047397dup, NC_000017.10:g.4047396_4047397dup

Select item 14909157542.

rs1490915754 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:4142408 (GRCh38)
17:4045702 (GRCh37)
Canonical SPDI:: NC_000017.11:4142407:A:C
Gene:: ZZEF1 (Varview), CYB5D2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_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.4142408A>C, NC_000017.10:g.4045702A>C

Select item 14906388853.

rs1490638885 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:4147015 (GRCh38)
17:4050309 (GRCh37)
Canonical SPDI:: NC_000017.11:4147014:G:A
Gene:: CYB5D2 (Varview)
Functional Consequence:: 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_000017.11:g.4147015G>A, NC_000017.10:g.4050309G>A

Select item 14903939244.

rs1490393924 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:4157487 (GRCh38)
17:4060781 (GRCh37)
Canonical SPDI:: NC_000017.11:4157486:C:T
Gene:: CYB5D2 (Varview), LOC124903898 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,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.4157487C>T, NC_000017.10:g.4060781C>T, XM_006721447.4:c.*405C>T, XM_006721447.3:c.*405C>T, XM_006721447.2:c.*405C>T, XM_006721447.1:c.*405C>T, NM_144611.4:c.*405C>T, NM_144611.3:c.*405C>T, NM_001254755.2:c.*405C>T, NM_001254755.1:c.*405C>T, NR_023346.1:n.1546C>T, NM_001254756.1:c.*405C>T, NR_023347.1:n.1096C>T, XM_047435333.1:c.*405C>T

Select item 14903858985.

rs1490385898 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:4147883 (GRCh38)
17:4051177 (GRCh37)
Canonical SPDI:: NC_000017.11:4147882:C:T
Gene:: CYB5D2 (Varview)
Functional Consequence:: intron_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.4147883C>T, NC_000017.10:g.4051177C>T

Select item 14901236786.

rs1490123678 [Homo sapiens]

Variant type:: DELINS
Alleles:: GACCTCACTCCACTCA>- [Show Flanks]
Chromosome:: 17:4155052 (GRCh38)
17:4058346 (GRCh37)
Canonical SPDI:: NC_000017.11:4155048:TCAGACCTCACTCCACTCA:TCA
Gene:: CYB5D2 (Varview), LOC124903898 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.4155052_4155067del, NC_000017.10:g.4058346_4058361del

Select item 14899764467.

rs1489976446 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:4153718 (GRCh38)
17:4057012 (GRCh37)
Canonical SPDI:: NC_000017.11:4153717:G:A
Gene:: CYB5D2 (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.4153718G>A, NC_000017.10:g.4057012G>A

Select item 14897740068.

rs1489774006 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:4146929 (GRCh38)
17:4050223 (GRCh37)
Canonical SPDI:: NC_000017.11:4146928:G:T
Gene:: CYB5D2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000106/2 (TOMMO)
T=0.000156/1 (1000Genomes)
T=0.001027/3 (KOREAN)
T=0.001092/2 (Korea1K)
HGVS:: NC_000017.11:g.4146929G>T, NC_000017.10:g.4050223G>T

Select item 14896014149.

rs1489601414 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:4143646 (GRCh38)
17:4046940 (GRCh37)
Canonical SPDI:: NC_000017.11:4143645:A:C
Gene:: ZZEF1 (Varview), CYB5D2 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.4143646A>C, NC_000017.10:g.4046940A>C, NM_144611.4:c.-110A>C, NM_144611.3:c.-110A>C, NR_023346.1:n.479A>C, NM_001254755.1:c.-204A>C

Select item 148942282510.

rs1489422825 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:4154430 (GRCh38)
17:4057724 (GRCh37)
Canonical SPDI:: NC_000017.11:4154429:A:G
Gene:: CYB5D2 (Varview), LOC124903898 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000671/3 (ALFA)
G=0.000007/1 (GnomAD)
G=0.00067/3 (Estonian)
HGVS:: NC_000017.11:g.4154430A>G, NC_000017.10:g.4057724A>G

Select item 148934356811.

rs1489343568 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:4149099 (GRCh38)
17:4052393 (GRCh37)
Canonical SPDI:: NC_000017.11:4149098:G:A
Gene:: CYB5D2 (Varview)
Functional Consequence:: 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_000017.11:g.4149099G>A, NC_000017.10:g.4052393G>A

Select item 148904956112.

rs1489049561 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:4148161 (GRCh38)
17:4051455 (GRCh37)
Canonical SPDI:: NC_000017.11:4148160:G:A
Gene:: CYB5D2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.4148161G>A, NC_000017.10:g.4051455G>A

Select item 148901729313.

rs1489017293 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:4146903 (GRCh38)
17:4050197 (GRCh37)
Canonical SPDI:: NC_000017.11:4146902:C:T
Gene:: CYB5D2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.4146903C>T, NC_000017.10:g.4050197C>T

Select item 148893362514.

rs1488933625 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:4141118 (GRCh38)
17:4044412 (GRCh37)
Canonical SPDI:: NC_000017.11:4141117:A:G
Gene:: ZZEF1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.4141118A>G, NC_000017.10:g.4044412A>G

Select item 148883177715.

rs1488831777 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:4143534 (GRCh38)
17:4046828 (GRCh37)
Canonical SPDI:: NC_000017.11:4143533:A:G
Gene:: ZZEF1 (Varview), CYB5D2 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.4143534A>G, NC_000017.10:g.4046828A>G, NM_144611.4:c.-222A>G, NM_144611.3:c.-222A>G, NR_023346.1:n.367A>G

Select item 148860943616.

rs1488609436 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:4149779 (GRCh38)
17:4053073 (GRCh37)
Canonical SPDI:: NC_000017.11:4149778:A:G
Gene:: CYB5D2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.4149779A>G, NC_000017.10:g.4053073A>G

Select item 148834682317.

rs1488346823 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:4157426 (GRCh38)
17:4060720 (GRCh37)
Canonical SPDI:: NC_000017.11:4157425:T:G
Gene:: CYB5D2 (Varview), LOC124903898 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.4157426T>G, NC_000017.10:g.4060720T>G, XM_006721447.4:c.*344T>G, XM_006721447.3:c.*344T>G, XM_006721447.2:c.*344T>G, XM_006721447.1:c.*344T>G, NM_144611.4:c.*344T>G, NM_144611.3:c.*344T>G, NM_001254755.2:c.*344T>G, NM_001254755.1:c.*344T>G, NR_023346.1:n.1485T>G, NM_001254756.1:c.*344T>G, NR_023347.1:n.1035T>G, XM_047435333.1:c.*344T>G

Select item 148773916718.

rs1487739167 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:4149668 (GRCh38)
17:4052962 (GRCh37)
Canonical SPDI:: NC_000017.11:4149667:G:A
Gene:: CYB5D2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000017.11:g.4149668G>A, NC_000017.10:g.4052962G>A

Select item 148770903519.

rs1487709035 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:4148691 (GRCh38)
17:4051985 (GRCh37)
Canonical SPDI:: NC_000017.11:4148690:G:A,NC_000017.11:4148690:G:T
Gene:: CYB5D2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.4148691G>A, NC_000017.11:g.4148691G>T, NC_000017.10:g.4051985G>A, NC_000017.10:g.4051985G>T

Select item 148737644120.

rs1487376441 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 17:4148362 (GRCh38)
17:4051656 (GRCh37)
Canonical SPDI:: NC_000017.11:4148361:C:A,NC_000017.11:4148361:C:G
Gene:: CYB5D2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.4148362C>A, NC_000017.11:g.4148362C>G, NC_000017.10:g.4051656C>A, NC_000017.10:g.4051656C>G

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