SNP Links for Gene (Select 54849) - SNP

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Select item 14915675631.

rs1491567563 [Homo sapiens]

Variant type:: INS
Alleles:: ->GGT [Show Flanks]
Chromosome:: 16:89948863 (GRCh38)
16:90015272 (GRCh37)
Canonical SPDI:: NC_000016.10:89948863::GGT
Gene:: DEF8 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: GGT=0.00006/5 (GnomAD)
HGVS:: NC_000016.10:g.89948863_89948864insGGT, NC_000016.9:g.90015271_90015272insGGT

Select item 14912591122.

rs1491259112 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 16:89961461 (GRCh38)
16:90027869 (GRCh37)
Canonical SPDI:: NC_000016.10:89961460:AT:
Gene:: DEF8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.89961461_89961462del, NC_000016.9:g.90027869_90027870del

Select item 14912436793.

rs1491243679 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>- [Show Flanks]
Chromosome:: 16:89948864 (GRCh38)
16:90015272 (GRCh37)
Canonical SPDI:: NC_000016.10:89948862:GCG:G
Gene:: DEF8 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.00001/1 (GnomAD)
HGVS:: NC_000016.10:g.89948864_89948865del, NC_000016.9:g.90015272_90015273del

Select item 14912106234.

rs1491210623 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 16:89961461 (GRCh38)
16:90027870 (GRCh37)
Canonical SPDI:: NC_000016.10:89961461:T:TT
Gene:: DEF8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.89961462dup, NC_000016.9:g.90027870dup

Select item 14907857445.

rs1490785744 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:89963716 (GRCh38)
16:90030124 (GRCh37)
Canonical SPDI:: NC_000016.10:89963715:T:C
Gene:: DEF8 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.89963716T>C, NC_000016.9:g.90030124T>C, XM_011523160.4:c.1458T>C, XM_011523160.3:c.1458T>C, XM_011523160.2:c.1458T>C, XM_011523160.1:c.1458T>C, XM_011523161.4:c.1458T>C, XM_011523161.3:c.1458T>C, XM_011523161.2:c.1458T>C, XM_011523161.1:c.1458T>C, XM_011523156.4:c.1275T>C, XM_011523156.3:c.1275T>C, XM_011523156.2:c.1275T>C, XM_011523156.1:c.1275T>C, XM_011523157.4:c.1275T>C, XM_011523157.3:c.1275T>C, XM_011523157.2:c.1275T>C, XM_011523157.1:c.1275T>C, XM_011523159.4:c.1377T>C, XM_011523159.3:c.1377T>C, XM_011523159.2:c.1377T>C, XM_011523159.1:c.1377T>C, XM_011523162.4:c.1275T>C, XM_011523162.3:c.1275T>C, XM_011523162.2:c.1275T>C, XM_011523162.1:c.1275T>C, XM_017023366.3:c.1275T>C, XM_017023366.2:c.1275T>C, XM_017023366.1:c.1275T>C

Select item 14907252836.

rs1490725283 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:89955173 (GRCh38)
16:90021581 (GRCh37)
Canonical SPDI:: NC_000016.10:89955172:C:T
Gene:: DEF8 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.89955173C>T, NC_000016.9:g.90021581C>T, XM_005256318.4:c.129C>T, XM_005256318.3:c.129C>T, XM_005256318.2:c.129C>T, XM_005256318.1:c.438C>T, XM_011523160.4:c.312C>T, XM_011523160.3:c.312C>T, XM_011523160.2:c.312C>T, XM_011523160.1:c.312C>T, XM_011523161.4:c.312C>T, XM_011523161.3:c.312C>T, XM_011523161.2:c.312C>T, XM_011523161.1:c.312C>T, XM_011523156.4:c.129C>T, XM_011523156.3:c.129C>T, XM_011523156.2:c.129C>T, XM_011523156.1:c.129C>T, XM_011523157.4:c.129C>T, XM_011523157.3:c.129C>T, XM_011523157.2:c.129C>T, XM_011523157.1:c.129C>T, XM_011523159.4:c.231C>T, XM_011523159.3:c.231C>T, XM_011523159.2:c.231C>T, XM_011523159.1:c.231C>T, XM_011523162.4:c.129C>T, XM_011523162.3:c.129C>T, XM_011523162.2:c.129C>T, XM_011523162.1:c.129C>T, NM_017702.4:c.129C>T, NM_017702.3:c.129C>T, XM_017023366.3:c.129C>T, XM_017023366.2:c.129C>T, XM_017023366.1:c.129C>T, NM_207514.3:c.312C>T, NM_207514.2:c.312C>T, XM_017023358.3:c.129C>T, XM_017023358.2:c.129C>T, XM_017023358.1:c.129C>T, XM_011523158.3:c.129C>T, XM_011523158.2:c.129C>T, XM_011523158.1:c.129C>T, XM_017023359.3:c.129C>T, XM_017023359.2:c.129C>T, XM_017023359.1:c.129C>T, XM_017023361.3:c.231C>T, XM_017023361.2:c.231C>T, XM_017023361.1:c.231C>T, XM_017023362.3:c.231C>T, XM_017023362.2:c.231C>T, XM_017023362.1:c.231C>T, XM_017023360.3:c.129C>T, XM_017023360.2:c.129C>T, XM_017023360.1:c.129C>T, XM_017023364.3:c.231C>T, XM_017023364.2:c.231C>T, XM_017023364.1:c.231C>T, XM_017023367.3:c.129C>T, XM_017023367.2:c.129C>T, XM_017023367.1:c.129C>T, XM_017023369.3:c.129C>T, XM_017023369.2:c.129C>T, XM_017023369.1:c.129C>T, NM_001242820.2:c.129C>T, NM_001242820.1:c.129C>T, XM_017023363.2:c.312C>T, XM_017023363.1:c.312C>T, XM_017023365.2:c.312C>T, XM_017023365.1:c.312C>T, NM_001242818.2:c.129C>T, NM_001242818.1:c.129C>T, NM_001242816.2:c.129C>T, NM_001242816.1:c.129C>T, NM_001242817.2:c.-52C>T, NM_001242817.1:c.-52C>T, NM_001242822.2:c.129C>T, NM_001242822.1:c.129C>T, NM_001242821.2:c.129C>T, NM_001242821.1:c.129C>T, XM_047434272.1:c.312C>T, XM_047434273.1:c.129C>T, NM_001242819.1:c.129C>T

Select item 14906669827.

rs1490666982 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:89957738 (GRCh38)
16:90024146 (GRCh37)
Canonical SPDI:: NC_000016.10:89957737:C:T
Gene:: DEF8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.89957738C>T, NC_000016.9:g.90024146C>T

Select item 14906287888.

rs1490628788 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:89946994 (GRCh38)
16:90013402 (GRCh37)
Canonical SPDI:: NC_000016.10:89946993:A:G
Gene:: DEF8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.89946994A>G, NC_000016.9:g.90013402A>G

Select item 14906001589.

rs1490600158 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:89947330 (GRCh38)
16:90013738 (GRCh37)
Canonical SPDI:: NC_000016.10:89947329:G:A
Gene:: DEF8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
A=0.00005/7 (GnomAD)
HGVS:: NC_000016.10:g.89947330G>A, NC_000016.9:g.90013738G>A

Select item 149056284210.

rs1490562842 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:89960925 (GRCh38)
16:90027333 (GRCh37)
Canonical SPDI:: NC_000016.10:89960924:C:T
Gene:: DEF8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.89960925C>T, NC_000016.9:g.90027333C>T

Select item 149038912311.

rs1490389123 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:89960676 (GRCh38)
16:90027084 (GRCh37)
Canonical SPDI:: NC_000016.10:89960675:G:A
Gene:: DEF8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.89960676G>A, NC_000016.9:g.90027084G>A

Select item 149010925312.

rs1490109253 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:89948019 (GRCh38)
16:90014427 (GRCh37)
Canonical SPDI:: NC_000016.10:89948018:A:C
Gene:: DEF8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.89948019A>C, NC_000016.9:g.90014427A>C

Select item 148982673513.

rs1489826735 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:89965277 (GRCh38)
16:90031685 (GRCh37)
Canonical SPDI:: NC_000016.10:89965276:A:G
Gene:: DEF8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000016.10:g.89965277A>G, NC_000016.9:g.90031685A>G

Select item 148980140914.

rs1489801409 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:89964415 (GRCh38)
16:90030823 (GRCh37)
Canonical SPDI:: NC_000016.10:89964414:A:T
Gene:: DEF8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.89964415A>T, NC_000016.9:g.90030823A>T

Select item 148972070615.

rs1489720706 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:89952023 (GRCh38)
16:90018431 (GRCh37)
Canonical SPDI:: NC_000016.10:89952022:G:A
Gene:: DEF8 (Varview), SNORA119 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_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_000016.10:g.89952023G>A, NC_000016.9:g.90018431G>A, XM_017023366.3:c.-670G>A, XM_017023366.1:c.-670G>A

Select item 148954802916.

rs1489548029 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:89956148 (GRCh38)
16:90022556 (GRCh37)
Canonical SPDI:: NC_000016.10:89956147:C:T
Gene:: DEF8 (Varview)
Functional Consequence:: intron_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_000016.10:g.89956148C>T, NC_000016.9:g.90022556C>T

Select item 148948686717.

rs1489486867 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 16:89947603 (GRCh38)
16:90014011 (GRCh37)
Canonical SPDI:: NC_000016.10:89947600:TGTG:TG
Gene:: DEF8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TGTG=0./0 (ALFA)
-=0.000019/5 (TOPMED)
HGVS:: NC_000016.10:g.89947601TG[1], NC_000016.9:g.90014009TG[1]

Select item 148947112418.

rs1489471124 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:89948104 (GRCh38)
16:90014512 (GRCh37)
Canonical SPDI:: NC_000016.10:89948103:G:C
Gene:: DEF8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.89948104G>C, NC_000016.9:g.90014512G>C

Select item 148916836119.

rs1489168361 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:89963995 (GRCh38)
16:90030403 (GRCh37)
Canonical SPDI:: NC_000016.10:89963994:G:T
Gene:: DEF8 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.89963995G>T, NC_000016.9:g.90030403G>T

Select item 148902267120.

rs1489022671 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:89948576 (GRCh38)
16:90014984 (GRCh37)
Canonical SPDI:: NC_000016.10:89948575:G:C
Gene:: DEF8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.89948576G>C, NC_000016.9:g.90014984G>C

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