SNP Links for Nucleotide (Select 323363017) - SNP

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Links from Nucleotide

Items: 1 to 20 of 3519

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Select item 14909231751.

rs1490923175 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:65867218 (GRCh38)
11:65634689 (GRCh37)
Canonical SPDI:: NC_000011.10:65867217:A:G
Gene:: EFEMP2 (Varview), MUS81 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000011.10:g.65867218A>G, NC_000011.9:g.65634689A>G, NG_012304.2:g.10717T>C, NG_053116.1:g.12157A>G

Select item 14909208582.

rs1490920858 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:65869855 (GRCh38)
11:65637326 (GRCh37)
Canonical SPDI:: NC_000011.10:65869854:A:G
Gene:: EFEMP2 (Varview)
Functional Consequence:: splice_donor_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.65869855A>G, NC_000011.9:g.65637326A>G, NG_012304.2:g.8080T>C

Select item 14907832093.

rs1490783209 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:65870767 (GRCh38)
11:65638238 (GRCh37)
Canonical SPDI:: NC_000011.10:65870766:A:C,NC_000011.10:65870766:A:G
Gene:: EFEMP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
C=0.004913/9 (Korea1K)
HGVS:: NC_000011.10:g.65870767A>C, NC_000011.10:g.65870767A>G, NC_000011.9:g.65638238A>C, NC_000011.9:g.65638238A>G, NG_012304.2:g.7168T>G, NG_012304.2:g.7168T>C

Select item 14902233144.

rs1490223314 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:65864810 (GRCh38)
11:65632281 (GRCh37)
Canonical SPDI:: NC_000011.10:65864809:T:C
Gene:: MUS81 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65864810T>C, NC_000011.9:g.65632281T>C, NG_012304.2:g.13125A>G, NG_053116.1:g.9749T>C, NM_025128.5:c.1267T>C, NM_025128.4:c.1267T>C, NM_001350283.2:c.1270T>C, NM_001350283.1:c.1270T>C, NR_146598.2:n.1588T>C, NR_146598.1:n.1620T>C, XM_011545269.2:c.1270T>C, XM_011545269.1:c.1270T>C, XM_011545270.2:c.1267T>C, XM_011545270.1:c.1267T>C, XM_047427636.1:c.1267T>C, XM_047427635.1:c.1270T>C, NP_079404.3:p.Tyr423His, NP_001337212.1:p.Tyr424His, XP_011543571.1:p.Tyr424His, XP_011543572.1:p.Tyr423His, XP_047283592.1:p.Tyr423His, XP_047283591.1:p.Tyr424His

Select item 14893850365.

rs1489385036 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:65871914 (GRCh38)
11:65639385 (GRCh37)
Canonical SPDI:: NC_000011.10:65871913:A:G
Gene:: EFEMP2 (Varview)
Functional Consequence:: intron_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_000011.10:g.65871914A>G, NC_000011.9:g.65639385A>G, NG_012304.2:g.6021T>C

Select item 14892489296.

rs1489248929 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:65875100 (GRCh38)
11:65642571 (GRCh37)
Canonical SPDI:: NC_000011.10:65875099:T:C
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.65875100T>C, NC_000011.9:g.65642571T>C, NG_012304.2:g.2835A>G

Select item 14891696687.

rs1489169668 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:65866351 (GRCh38)
11:65633822 (GRCh37)
Canonical SPDI:: NC_000011.10:65866350:A:G
Gene:: EFEMP2 (Varview), MUS81 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000011.10:g.65866351A>G, NC_000011.9:g.65633822A>G, NG_012304.2:g.11584T>C, NG_053116.1:g.11290A>G, NM_025128.5:c.*299A>G, NM_025128.4:c.*299A>G, NM_001350283.2:c.*299A>G, NM_001350283.1:c.*299A>G, XM_011545269.2:c.*299A>G, XM_011545269.1:c.*299A>G, XM_011545270.2:c.*299A>G, XM_011545270.1:c.*299A>G

Select item 14890462358.

rs1489046235 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:65873515 (GRCh38)
11:65640986 (GRCh37)
Canonical SPDI:: NC_000011.10:65873514:G:T
Gene:: EFEMP2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.65873515G>T, NC_000011.9:g.65640986G>T, NG_012304.2:g.4420C>A

Select item 14889512979.

rs1488951297 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:65876689 (GRCh38)
11:65644160 (GRCh37)
Canonical SPDI:: NC_000011.10:65876688:C:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.65876689C>G, NC_000011.9:g.65644160C>G, NG_012304.2:g.1246G>C

Select item 148890461510.

rs1488904615 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:65865234 (GRCh38)
11:65632705 (GRCh37)
Canonical SPDI:: NC_000011.10:65865233:A:G
Gene:: MUS81 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65865234A>G, NC_000011.9:g.65632705A>G, NG_012304.2:g.12701T>C, NG_053116.1:g.10173A>G, NM_025128.5:c.1416A>G, NM_025128.4:c.1416A>G, NM_001350283.2:c.1419A>G, NM_001350283.1:c.1419A>G, NR_146598.2:n.1639A>G, NR_146598.1:n.1671A>G, XM_011545269.2:c.1419A>G, XM_011545269.1:c.1419A>G, XM_011545270.2:c.1416A>G, XM_011545270.1:c.1416A>G

Select item 148877538511.

rs1488775385 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 11:65868825 (GRCh38)
11:65636296 (GRCh37)
Canonical SPDI:: NC_000011.10:65868824:TT:
Gene:: EFEMP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.65868825_65868826del, NC_000011.9:g.65636296_65636297del, NG_012304.2:g.9109_9110del, NG_053116.1:g.13764_13765del

Select item 148867207412.

rs1488672074 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:65867872 (GRCh38)
11:65635343 (GRCh37)
Canonical SPDI:: NC_000011.10:65867871:A:C
Gene:: EFEMP2 (Varview), MUS81 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.65867872A>C, NC_000011.9:g.65635343A>C, NG_012304.2:g.10063T>G, NM_016938.5:c.1159T>G, NM_016938.4:c.1159T>G, NR_037718.2:n.1284T>G, NR_037718.1:n.1418T>G, NG_053116.1:g.12811A>C, NP_058634.4:p.Phe387Val

Select item 148827795313.

rs1488277953 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65868838 (GRCh38)
11:65636309 (GRCh37)
Canonical SPDI:: NC_000011.10:65868837:G:A
Gene:: EFEMP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.65868838G>A, NC_000011.9:g.65636309G>A, NG_012304.2:g.9097C>T, NG_053116.1:g.13777G>A

Select item 148817992914.

rs1488179929 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:65873077 (GRCh38)
11:65640548 (GRCh37)
Canonical SPDI:: NC_000011.10:65873076:T:A
Gene:: EFEMP2 (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)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.65873077T>A, NC_000011.9:g.65640548T>A, NG_012304.2:g.4858A>T

Select item 148782472415.

rs1487824724 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65868709 (GRCh38)
11:65636180 (GRCh37)
Canonical SPDI:: NC_000011.10:65868708:C:T
Gene:: EFEMP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.65868709C>T, NC_000011.9:g.65636180C>T, NG_012304.2:g.9226G>A, NG_053116.1:g.13648C>T

Select item 148779555616.

rs1487795556 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:65869321 (GRCh38)
11:65636792 (GRCh37)
Canonical SPDI:: NC_000011.10:65869320:T:C
Gene:: EFEMP2 (Varview)
Functional Consequence:: 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_000011.10:g.65869321T>C, NC_000011.9:g.65636792T>C, NG_012304.2:g.8614A>G, NG_053116.1:g.14260T>C

Select item 148761233617.

rs1487612336 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:65876978 (GRCh38)
11:65644449 (GRCh37)
Canonical SPDI:: NC_000011.10:65876977:G:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.65876978G>T, NC_000011.9:g.65644449G>T, NG_012304.2:g.957C>A

Select item 148751863018.

rs1487518630 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65870322 (GRCh38)
11:65637793 (GRCh37)
Canonical SPDI:: NC_000011.10:65870321:C:T
Gene:: EFEMP2 (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_000011.10:g.65870322C>T, NC_000011.9:g.65637793C>T, NG_012304.2:g.7613G>A

Select item 148719418119.

rs1487194181 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:65872725 (GRCh38)
11:65640196 (GRCh37)
Canonical SPDI:: NC_000011.10:65872724:G:A,NC_000011.10:65872724:G:T
Gene:: EFEMP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.65872725G>A, NC_000011.10:g.65872725G>T, NC_000011.9:g.65640196G>A, NC_000011.9:g.65640196G>T, NG_012304.2:g.5210C>T, NG_012304.2:g.5210C>A, NM_016938.5:c.-50C>T, NM_016938.5:c.-50C>A, NM_016938.4:c.-50C>T, NM_016938.4:c.-50C>A, NR_037718.2:n.76C>T, NR_037718.2:n.76C>A, NR_037718.1:n.210C>T, NR_037718.1:n.210C>A

Select item 148717807120.

rs1487178071 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65872164 (GRCh38)
11:65639635 (GRCh37)
Canonical SPDI:: NC_000011.10:65872163:C:T
Gene:: EFEMP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65872164C>T, NC_000011.9:g.65639635C>T, NG_012304.2:g.5771G>A

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