SNP Links for Nucleotide (Select 296785057) - SNP

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Select item 14909914561.

rs1490991456 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:94669586 (GRCh38)
7:94298898 (GRCh37)
Canonical SPDI:: NC_000007.14:94669585:C:T
Gene:: PEG10 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.94669586C>T, NC_000007.13:g.94298898C>T, NG_011340.1:g.18262C>T, NM_015068.3:c.*3904C>T, NM_001172438.3:c.*5052C>T, NM_001172438.2:c.*5052C>T, NM_001172438.1:c.*5052C>T, NM_001172437.2:c.*3904C>T, NM_001172437.1:c.*3904C>T, NM_001184962.2:c.*5052C>T, NM_001184962.1:c.*5052C>T, NM_001040152.2:c.*5052C>T, NM_001040152.1:c.*5052C>T, NM_001184961.1:c.*3904C>T

Select item 14907106032.

rs1490710603 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:94668243 (GRCh38)
7:94297555 (GRCh37)
Canonical SPDI:: NC_000007.14:94668242:C:T
Gene:: PEG10 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.94668243C>T, NC_000007.13:g.94297555C>T, NG_011340.1:g.16919C>T, NM_015068.3:c.*2561C>T, NM_001172438.3:c.*3709C>T, NM_001172438.2:c.*3709C>T, NM_001172438.1:c.*3709C>T, NM_001172437.2:c.*2561C>T, NM_001172437.1:c.*2561C>T, NM_001184962.2:c.*3709C>T, NM_001184962.1:c.*3709C>T, NM_001040152.2:c.*3709C>T, NM_001040152.1:c.*3709C>T, NM_001184961.1:c.*2561C>T

Select item 14905988593.

rs1490598859 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:94664891 (GRCh38)
7:94294203 (GRCh37)
Canonical SPDI:: NC_000007.14:94664890:G:A
Gene:: PEG10 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000007.14:g.94664891G>A, NC_000007.13:g.94294203G>A, NG_011340.1:g.13567G>A, NM_015068.3:c.1335G>A, NM_001172438.3:c.*357G>A, NM_001172438.2:c.*357G>A, NM_001172438.1:c.*357G>A, NM_001172437.2:c.1563G>A, NM_001172437.1:c.1563G>A, NM_001184962.2:c.*357G>A, NM_001184962.1:c.*357G>A, NM_001040152.2:c.*357G>A, NM_001040152.1:c.*357G>A, NM_001184961.1:c.1437G>A, not_yet_implemented, not_yet_implemented, not_yet_implemented, not_yet_implemented, not_yet_implemented, not_yet_implemented

Select item 14905420254.

rs1490542025 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:94665343 (GRCh38)
7:94294655 (GRCh37)
Canonical SPDI:: NC_000007.14:94665342:T:A
Gene:: PEG10 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.94665343T>A, NC_000007.13:g.94294655T>A, NG_011340.1:g.14019T>A, NM_015068.3:c.1787T>A, NM_001172438.3:c.*809T>A, NM_001172438.2:c.*809T>A, NM_001172438.1:c.*809T>A, NM_001172437.2:c.2015T>A, NM_001172437.1:c.2015T>A, NM_001184962.2:c.*809T>A, NM_001184962.1:c.*809T>A, NM_001040152.2:c.*809T>A, NM_001040152.1:c.*809T>A, NM_001184961.1:c.1889T>A, not_yet_implemented, not_yet_implemented, not_yet_implemented, not_yet_implemented, not_yet_implemented, not_yet_implemented

Select item 14905028795.

rs1490502879 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:94668997 (GRCh38)
7:94298309 (GRCh37)
Canonical SPDI:: NC_000007.14:94668996:G:A,NC_000007.14:94668996:G:C
Gene:: PEG10 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
A=0.000342/1 (KOREAN)
HGVS:: NC_000007.14:g.94668997G>A, NC_000007.14:g.94668997G>C, NC_000007.13:g.94298309G>A, NC_000007.13:g.94298309G>C, NG_011340.1:g.17673G>A, NG_011340.1:g.17673G>C, NM_015068.3:c.*3315G>A, NM_015068.3:c.*3315G>C, NM_001172438.3:c.*4463G>A, NM_001172438.3:c.*4463G>C, NM_001172438.2:c.*4463G>A, NM_001172438.2:c.*4463G>C, NM_001172438.1:c.*4463G>A, NM_001172438.1:c.*4463G>C, NM_001172437.2:c.*3315G>A, NM_001172437.2:c.*3315G>C, NM_001172437.1:c.*3315G>A, NM_001172437.1:c.*3315G>C, NM_001184962.2:c.*4463G>A, NM_001184962.2:c.*4463G>C, NM_001184962.1:c.*4463G>A, NM_001184962.1:c.*4463G>C, NM_001040152.2:c.*4463G>A, NM_001040152.2:c.*4463G>C, NM_001040152.1:c.*4463G>A, NM_001040152.1:c.*4463G>C, NM_001184961.1:c.*3315G>A, NM_001184961.1:c.*3315G>C

Select item 14902214626.

rs1490221462 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:94667662 (GRCh38)
7:94296974 (GRCh37)
Canonical SPDI:: NC_000007.14:94667661:T:C
Gene:: PEG10 (Varview)
Functional Consequence:: 3_prime_UTR_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_000007.14:g.94667662T>C, NC_000007.13:g.94296974T>C, NG_011340.1:g.16338T>C, NM_015068.3:c.*1980T>C, NM_001172438.3:c.*3128T>C, NM_001172438.2:c.*3128T>C, NM_001172438.1:c.*3128T>C, NM_001172437.2:c.*1980T>C, NM_001172437.1:c.*1980T>C, NM_001184962.2:c.*3128T>C, NM_001184962.1:c.*3128T>C, NM_001040152.2:c.*3128T>C, NM_001040152.1:c.*3128T>C, NM_001184961.1:c.*1980T>C

Select item 14900524917.

rs1490052491 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:94665692 (GRCh38)
7:94295004 (GRCh37)
Canonical SPDI:: NC_000007.14:94665691:A:G
Gene:: PEG10 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.94665692A>G, NC_000007.13:g.94295004A>G, NG_011340.1:g.14368A>G, NM_015068.3:c.*10A>G, NM_001172438.3:c.*1158A>G, NM_001172438.2:c.*1158A>G, NM_001172438.1:c.*1158A>G, NM_001172437.2:c.*10A>G, NM_001172437.1:c.*10A>G, NM_001184962.2:c.*1158A>G, NM_001184962.1:c.*1158A>G, NM_001040152.2:c.*1158A>G, NM_001040152.1:c.*1158A>G, NM_001184961.1:c.*10A>G

Select item 14899460278.

rs1489946027 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:94667979 (GRCh38)
7:94297291 (GRCh37)
Canonical SPDI:: NC_000007.14:94667978:T:C
Gene:: PEG10 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00002/1 (GnomAD)
HGVS:: NC_000007.14:g.94667979T>C, NC_000007.13:g.94297291T>C, NG_011340.1:g.16655T>C, NM_015068.3:c.*2297T>C, NM_001172438.3:c.*3445T>C, NM_001172438.2:c.*3445T>C, NM_001172438.1:c.*3445T>C, NM_001172437.2:c.*2297T>C, NM_001172437.1:c.*2297T>C, NM_001184962.2:c.*3445T>C, NM_001184962.1:c.*3445T>C, NM_001040152.2:c.*3445T>C, NM_001040152.1:c.*3445T>C, NM_001184961.1:c.*2297T>C

Select item 14892728589.

rs1489272858 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 7:94666986 (GRCh38)
7:94296298 (GRCh37)
Canonical SPDI:: NC_000007.14:94666985:AAAAA:AAAA
Gene:: PEG10 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.94666990del, NC_000007.13:g.94296302del, NG_011340.1:g.15666del, NM_015068.3:c.*1308del, NM_001172438.3:c.*2456del, NM_001172438.2:c.*2456del, NM_001172438.1:c.*2456del, NM_001172437.2:c.*1308del, NM_001172437.1:c.*1308del, NM_001184962.2:c.*2456del, NM_001184962.1:c.*2456del, NM_001040152.2:c.*2456del, NM_001040152.1:c.*2456del, NM_001184961.1:c.*1308del

Select item 148918787810.

rs1489187878 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:94669587 (GRCh38)
7:94298899 (GRCh37)
Canonical SPDI:: NC_000007.14:94669586:C:T
Gene:: PEG10 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000106/2 (TOMMO)
HGVS:: NC_000007.14:g.94669587C>T, NC_000007.13:g.94298899C>T, NG_011340.1:g.18263C>T, NM_015068.3:c.*3905C>T, NM_001172438.3:c.*5053C>T, NM_001172438.2:c.*5053C>T, NM_001172438.1:c.*5053C>T, NM_001172437.2:c.*3905C>T, NM_001172437.1:c.*3905C>T, NM_001184962.2:c.*5053C>T, NM_001184962.1:c.*5053C>T, NM_001040152.2:c.*5053C>T, NM_001040152.1:c.*5053C>T, NM_001184961.1:c.*3905C>T

Select item 148648558811.

rs1486485588 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:94656362 (GRCh38)
7:94285674 (GRCh37)
Canonical SPDI:: NC_000007.14:94656361:C:T
Gene:: SGCE (Varview), PEG10 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.94656362C>T, NC_000007.13:g.94285674C>T, NG_008893.3:g.5211G>A, NG_011340.1:g.5038C>T, NM_015068.3:c.-442C>T, NM_001172437.2:c.-225C>T, NM_001184961.1:c.-340C>T, NM_001172438.2:c.-225C>T, NM_001184962.1:c.-340C>T, NM_001040152.1:c.-442C>T

Select item 148648126212.

rs1486481262 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAGCGGAGAA [Show Flanks]
Chromosome:: 7:94656423 (GRCh38)
7:94285736 (GRCh37)
Canonical SPDI:: NC_000007.14:94656423:GGAGAACAGCGGAGAA:GGAGAACAGCGGAGAACAGCGGAGAA
Gene:: SGCE (Varview), PEG10 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGAGAACAGCGGAGAACAGCGGAGAA=0.000071/1 (ALFA)
GGAGAACAGC=0.00014/37 (TOPMED)
GGAGAACAGC=0.00015/21 (GnomAD)
HGVS:: NC_000007.14:g.94656430_94656439dup, NC_000007.13:g.94285742_94285751dup, NG_008893.3:g.5140_5149dup, NG_011340.1:g.5106_5115dup, NM_015068.3:c.-374_-365dup, NM_001172438.3:c.-157_-148dup, NM_001172438.2:c.-157_-148dup, NM_001172438.1:c.-157_-148dup, NM_001172437.2:c.-157_-148dup, NM_001172437.1:c.-157_-148dup, NM_001184962.2:c.-272_-263dup, NM_001184962.1:c.-272_-263dup, NM_001040152.2:c.-374_-365dup, NM_001040152.1:c.-374_-365dup, NM_001184961.1:c.-272_-263dup

Select item 148599351313.

rs1485993513 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:94668219 (GRCh38)
7:94297531 (GRCh37)
Canonical SPDI:: NC_000007.14:94668218:G:A
Gene:: PEG10 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.94668219G>A, NC_000007.13:g.94297531G>A, NG_011340.1:g.16895G>A, NM_015068.3:c.*2537G>A, NM_001172438.3:c.*3685G>A, NM_001172438.2:c.*3685G>A, NM_001172438.1:c.*3685G>A, NM_001172437.2:c.*2537G>A, NM_001172437.1:c.*2537G>A, NM_001184962.2:c.*3685G>A, NM_001184962.1:c.*3685G>A, NM_001040152.2:c.*3685G>A, NM_001040152.1:c.*3685G>A, NM_001184961.1:c.*2537G>A

Select item 148495854414.

rs1484958544 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:94668885 (GRCh38)
7:94298197 (GRCh37)
Canonical SPDI:: NC_000007.14:94668884:T:C
Gene:: PEG10 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000023/6 (TOPMED)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000007.14:g.94668885T>C, NC_000007.13:g.94298197T>C, NG_011340.1:g.17561T>C, NM_015068.3:c.*3203T>C, NM_001172438.3:c.*4351T>C, NM_001172438.2:c.*4351T>C, NM_001172438.1:c.*4351T>C, NM_001172437.2:c.*3203T>C, NM_001172437.1:c.*3203T>C, NM_001184962.2:c.*4351T>C, NM_001184962.1:c.*4351T>C, NM_001040152.2:c.*4351T>C, NM_001040152.1:c.*4351T>C, NM_001184961.1:c.*3203T>C

Select item 148387898615.

rs1483878986 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:94666200 (GRCh38)
7:94295512 (GRCh37)
Canonical SPDI:: NC_000007.14:94666199:A:G
Gene:: PEG10 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.94666200A>G, NC_000007.13:g.94295512A>G, NG_011340.1:g.14876A>G, NM_015068.3:c.*518A>G, NM_001172438.3:c.*1666A>G, NM_001172438.2:c.*1666A>G, NM_001172438.1:c.*1666A>G, NM_001172437.2:c.*518A>G, NM_001172437.1:c.*518A>G, NM_001184962.2:c.*1666A>G, NM_001184962.1:c.*1666A>G, NM_001040152.2:c.*1666A>G, NM_001040152.1:c.*1666A>G, NM_001184961.1:c.*518A>G

Select item 148353514516.

rs1483535145 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:94665694 (GRCh38)
7:94295006 (GRCh37)
Canonical SPDI:: NC_000007.14:94665693:G:A
Gene:: PEG10 (Varview)
Functional Consequence:: 3_prime_UTR_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_000007.14:g.94665694G>A, NC_000007.13:g.94295006G>A, NG_011340.1:g.14370G>A, NM_015068.3:c.*12G>A, NM_001172438.3:c.*1160G>A, NM_001172438.2:c.*1160G>A, NM_001172438.1:c.*1160G>A, NM_001172437.2:c.*12G>A, NM_001172437.1:c.*12G>A, NM_001184962.2:c.*1160G>A, NM_001184962.1:c.*1160G>A, NM_001040152.2:c.*1160G>A, NM_001040152.1:c.*1160G>A, NM_001184961.1:c.*12G>A

Select item 148339106517.

rs1483391065 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:94666537 (GRCh38)
7:94295849 (GRCh37)
Canonical SPDI:: NC_000007.14:94666536:G:A
Gene:: PEG10 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.94666537G>A, NC_000007.13:g.94295849G>A, NG_011340.1:g.15213G>A, NM_015068.3:c.*855G>A, NM_001172438.3:c.*2003G>A, NM_001172438.2:c.*2003G>A, NM_001172438.1:c.*2003G>A, NM_001172437.2:c.*855G>A, NM_001172437.1:c.*855G>A, NM_001184962.2:c.*2003G>A, NM_001184962.1:c.*2003G>A, NM_001040152.2:c.*2003G>A, NM_001040152.1:c.*2003G>A, NM_001184961.1:c.*855G>A

Select item 148327617718.

rs1483276177 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:94666352 (GRCh38)
7:94295664 (GRCh37)
Canonical SPDI:: NC_000007.14:94666351:C:T
Gene:: PEG10 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000034/9 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000007.14:g.94666352C>T, NC_000007.13:g.94295664C>T, NG_011340.1:g.15028C>T, NM_015068.3:c.*670C>T, NM_001172438.3:c.*1818C>T, NM_001172438.2:c.*1818C>T, NM_001172438.1:c.*1818C>T, NM_001172437.2:c.*670C>T, NM_001172437.1:c.*670C>T, NM_001184962.2:c.*1818C>T, NM_001184962.1:c.*1818C>T, NM_001040152.2:c.*1818C>T, NM_001040152.1:c.*1818C>T, NM_001184961.1:c.*670C>T

Select item 148322568919.

rs1483225689 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:94669547 (GRCh38)
7:94298859 (GRCh37)
Canonical SPDI:: NC_000007.14:94669546:G:A
Gene:: PEG10 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000042/11 (TOPMED)
A=0.00005/7 (GnomAD)
HGVS:: NC_000007.14:g.94669547G>A, NC_000007.13:g.94298859G>A, NG_011340.1:g.18223G>A, NM_015068.3:c.*3865G>A, NM_001172438.3:c.*5013G>A, NM_001172438.2:c.*5013G>A, NM_001172438.1:c.*5013G>A, NM_001172437.2:c.*3865G>A, NM_001172437.1:c.*3865G>A, NM_001184962.2:c.*5013G>A, NM_001184962.1:c.*5013G>A, NM_001040152.2:c.*5013G>A, NM_001040152.1:c.*5013G>A, NM_001184961.1:c.*3865G>A

Select item 148255131420.

rs1482551314 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:94665225 (GRCh38)
7:94294537 (GRCh37)
Canonical SPDI:: NC_000007.14:94665224:C:T
Gene:: PEG10 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
T=0.000177/3 (TOMMO)
T=0.000546/1 (Korea1K)
HGVS:: NC_000007.14:g.94665225C>T, NC_000007.13:g.94294537C>T, NG_011340.1:g.13901C>T, NM_015068.3:c.1669C>T, NM_001172438.3:c.*691C>T, NM_001172438.2:c.*691C>T, NM_001172438.1:c.*691C>T, NM_001172437.2:c.1897C>T, NM_001172437.1:c.1897C>T, NM_001184962.2:c.*691C>T, NM_001184962.1:c.*691C>T, NM_001040152.2:c.*691C>T, NM_001040152.1:c.*691C>T, NM_001184961.1:c.1771C>T, not_yet_implemented, not_yet_implemented, not_yet_implemented, not_yet_implemented, not_yet_implemented, not_yet_implemented

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