SNP Links for Gene (Select 65263) - SNP

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Select item 14906467771.

rs1490646777 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143609084 (GRCh38)
8:144691254 (GRCh37)
Canonical SPDI:: NC_000008.11:143609083:G:A
Gene:: PYCR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.143609084G>A, NC_000008.10:g.144691254G>A, NG_051357.1:g.5531C>T, NT_187571.1:g.99124G>A

Select item 14893586702.

rs1489358670 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:143610712 (GRCh38)
8:144692882 (GRCh37)
Canonical SPDI:: NC_000008.11:143610711:A:T
Gene:: PYCR3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000008.11:g.143610712A>T, NC_000008.10:g.144692882A>T, NG_051357.1:g.3903T>A, NT_187571.1:g.100752A>T

Select item 14889886003.

rs1488988600 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:143609612 (GRCh38)
8:144691782 (GRCh37)
Canonical SPDI:: NC_000008.11:143609611:T:G
Gene:: PYCR3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
G=0.000156/1 (1000Genomes)
G=0.000694/2 (KOREAN)
G=0.002513/42 (TOMMO)
HGVS:: NC_000008.11:g.143609612T>G, NC_000008.10:g.144691782T>G, NG_051357.1:g.5003A>C, NT_187571.1:g.99652T>G, NM_023078.4:c.-28A>C, NM_023078.3:c.-28A>C, NR_138144.1:n.3A>C, NM_001329866.1:c.-28A>C

Select item 14889669664.

rs1488966966 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143604654 (GRCh38)
8:144686824 (GRCh37)
Canonical SPDI:: NC_000008.11:143604653:G:A
Gene:: PYCR3 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.00003/8 (TOPMED)
A=0.000685/2 (KOREAN)
HGVS:: NC_000008.11:g.143604654G>A, NC_000008.10:g.144686824G>A, NG_051357.1:g.9961C>T, NM_023078.6:c.*1046C>T, NM_023078.5:c.*1046C>T, NM_023078.4:c.*1046C>T, NM_023078.3:c.*1046C>T, NR_138144.3:n.2011C>T, NR_138144.2:n.2011C>T, NR_138144.1:n.2050C>T, NM_001329866.3:c.*1046C>T, NM_001329866.2:c.*1046C>T, NM_001329866.1:c.*1046C>T, NT_187571.1:g.94694G>A

Select item 14888558675.

rs1488855867 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143602880 (GRCh38)
8:144685050 (GRCh37)
Canonical SPDI:: NC_000008.11:143602879:G:A
Gene:: PYCR3 (Varview), TIGD5 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000008.11:g.143602880G>A, NC_000008.10:g.144685050G>A, NG_051357.1:g.11735C>T, NT_187571.1:g.92920G>A, NM_032862.5:c.*3048G>A

Select item 14887995676.

rs1488799567 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGGGGCCCCATCAGGC [Show Flanks]
Chromosome:: 8:143605154 (GRCh38)
8:144687325 (GRCh37)
Canonical SPDI:: NC_000008.11:143605154:GGGGGCCCCATCAGGC:GGGGGCCCCATCAGGCGGGGGCCCCATCAGGC
Gene:: PYCR3 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: GGGGGCCCCATCAGGCGGGGGCCCCATCAGGC=0.0011/13 (ALFA)
HGVS:: NC_000008.11:g.143605155_143605170dup, NC_000008.10:g.144687325_144687340dup, NG_051357.1:g.9445_9460dup, NM_023078.6:c.*530_*545dup, NM_023078.5:c.*530_*545dup, NM_023078.4:c.*530_*545dup, NM_023078.3:c.*530_*545dup, NR_138144.3:n.1495_1510dup, NR_138144.2:n.1495_1510dup, NR_138144.1:n.1534_1549dup, NM_001329866.3:c.*530_*545dup, NM_001329866.2:c.*530_*545dup, NM_001329866.1:c.*530_*545dup, NT_187571.1:g.95195_95210dup

Select item 14886864527.

rs1488686452 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:143609356 (GRCh38)
8:144691526 (GRCh37)
Canonical SPDI:: NC_000008.11:143609355:C:G,NC_000008.11:143609355:C:T
Gene:: PYCR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0./0 (GnomAD)
HGVS:: NC_000008.11:g.143609356C>G, NC_000008.11:g.143609356C>T, NC_000008.10:g.144691526C>G, NC_000008.10:g.144691526C>T, NG_051357.1:g.5259G>C, NG_051357.1:g.5259G>A, NT_187571.1:g.99396C>G, NT_187571.1:g.99396C>T

Select item 14886605858.

rs1488660585 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:143610471 (GRCh38)
8:144692641 (GRCh37)
Canonical SPDI:: NC_000008.11:143610470:C:T
Gene:: PYCR3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.143610471C>T, NC_000008.10:g.144692641C>T, NG_051357.1:g.4144G>A, NT_187571.1:g.100511C>T

Select item 14886460259.

rs1488646025 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143605405 (GRCh38)
8:144687575 (GRCh37)
Canonical SPDI:: NC_000008.11:143605404:G:A
Gene:: PYCR3 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000038/10 (TOPMED)
HGVS:: NC_000008.11:g.143605405G>A, NC_000008.10:g.144687575G>A, NG_051357.1:g.9210C>T, NM_023078.6:c.*295C>T, NM_023078.5:c.*295C>T, NM_023078.4:c.*295C>T, NM_023078.3:c.*295C>T, NR_138144.3:n.1260C>T, NR_138144.2:n.1260C>T, NR_138144.1:n.1299C>T, NM_001329866.3:c.*295C>T, NM_001329866.2:c.*295C>T, NM_001329866.1:c.*295C>T, NT_187571.1:g.95445G>A

Select item 148785435410.

rs1487854354 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:143605088 (GRCh38)
8:144687258 (GRCh37)
Canonical SPDI:: NC_000008.11:143605087:A:G
Gene:: PYCR3 (Varview)
Functional Consequence:: non_coding_transcript_variant,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)
HGVS:: NC_000008.11:g.143605088A>G, NC_000008.10:g.144687258A>G, NG_051357.1:g.9527T>C, NM_023078.6:c.*612T>C, NM_023078.5:c.*612T>C, NM_023078.4:c.*612T>C, NM_023078.3:c.*612T>C, NR_138144.3:n.1577T>C, NR_138144.2:n.1577T>C, NR_138144.1:n.1616T>C, NM_001329866.3:c.*612T>C, NM_001329866.2:c.*612T>C, NM_001329866.1:c.*612T>C, NT_187571.1:g.95128A>G

Select item 148771941811.

rs1487719418 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:143611100 (GRCh38)
8:144693270 (GRCh37)
Canonical SPDI:: NC_000008.11:143611099:C:G,NC_000008.11:143611099:C:T
Gene:: PYCR3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000071/1 (TOMMO)
HGVS:: NC_000008.11:g.143611100C>G, NC_000008.11:g.143611100C>T, NC_000008.10:g.144693270C>G, NC_000008.10:g.144693270C>T, NG_051357.1:g.3515G>C, NG_051357.1:g.3515G>A, NT_187571.1:g.101140C>G, NT_187571.1:g.101140C>T

Select item 148767770112.

rs1487677701 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:143603714 (GRCh38)
8:144685884 (GRCh37)
Canonical SPDI:: NC_000008.11:143603713:C:T
Gene:: PYCR3 (Varview), TIGD5 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000008.11:g.143603714C>T, NC_000008.10:g.144685884C>T, NG_051357.1:g.10901G>A, NM_023078.6:c.*1986G>A, NM_023078.5:c.*1986G>A, NM_023078.4:c.*1986G>A, NR_138144.3:n.2951G>A, NR_138144.2:n.2951G>A, NR_138144.1:n.2990G>A, NM_001329866.3:c.*1986G>A, NM_001329866.2:c.*1986G>A, NM_001329866.1:c.*1986G>A, NT_187571.1:g.93754C>T

Select item 148752253013.

rs1487522530 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143608798 (GRCh38)
8:144690968 (GRCh37)
Canonical SPDI:: NC_000008.11:143608797:G:A
Gene:: PYCR3 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.00004/1 (TOMMO)
HGVS:: NC_000008.11:g.143608798G>A, NC_000008.10:g.144690968G>A, NG_051357.1:g.5817C>T, NR_138144.3:n.197C>T, NR_138144.2:n.197C>T, NR_138144.1:n.236C>T, NT_187571.1:g.98838G>A

Select item 148702455814.

rs1487024558 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:143607138 (GRCh38)
8:144689308 (GRCh37)
Canonical SPDI:: NC_000008.11:143607137:C:G,NC_000008.11:143607137:C:T
Gene:: PYCR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.143607138C>G, NC_000008.11:g.143607138C>T, NC_000008.10:g.144689308C>G, NC_000008.10:g.144689308C>T, NG_051357.1:g.7477G>C, NG_051357.1:g.7477G>A, NT_187571.1:g.97178C>G, NT_187571.1:g.97178C>T

Select item 148680268615.

rs1486802686 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:143609962 (GRCh38)
8:144692132 (GRCh37)
Canonical SPDI:: NC_000008.11:143609961:T:A
Gene:: PYCR3 (Varview)
Functional Consequence:: 2KB_upstream_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_000008.11:g.143609962T>A, NC_000008.10:g.144692132T>A, NG_051357.1:g.4653A>T, NT_187571.1:g.100002T>A

Select item 148675969516.

rs1486759695 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGA>- [Show Flanks]
Chromosome:: 8:143607758 (GRCh38)
8:144689928 (GRCh37)
Canonical SPDI:: NC_000008.11:143607756:ATGA:A
Gene:: PYCR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.0002/19 (GnomAD)
HGVS:: NC_000008.11:g.143607758_143607760del, NC_000008.10:g.144689928_144689930del, NG_051357.1:g.6856_6858del, NT_187571.1:g.97798_97800del

Select item 148669963317.

rs1486699633 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:143609690 (GRCh38)
8:144691860 (GRCh37)
Canonical SPDI:: NC_000008.11:143609689:C:G,NC_000008.11:143609689:C:T
Gene:: PYCR3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000015/4 (TOPMED)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000008.11:g.143609690C>G, NC_000008.11:g.143609690C>T, NC_000008.10:g.144691860C>G, NC_000008.10:g.144691860C>T, NG_051357.1:g.4925G>C, NG_051357.1:g.4925G>A, NT_187571.1:g.99730C>G, NT_187571.1:g.99730C>T

Select item 148636840418.

rs1486368404 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:143605710 (GRCh38)
8:144687880 (GRCh37)
Canonical SPDI:: NC_000008.11:143605709:C:T
Gene:: PYCR3 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_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_000008.11:g.143605710C>T, NC_000008.10:g.144687880C>T, NG_051357.1:g.8905G>A, NM_023078.6:c.815G>A, NM_023078.5:c.815G>A, NM_023078.4:c.851G>A, NM_023078.3:c.851G>A, NR_138144.3:n.955G>A, NR_138144.2:n.955G>A, NR_138144.1:n.994G>A, NM_001329866.3:c.755G>A, NM_001329866.2:c.755G>A, NM_001329866.1:c.791G>A, NT_187571.1:g.95750C>T, NP_075566.3:p.Ser272Asn, NP_001316795.2:p.Ser252Asn

Select item 148613709919.

rs1486137099 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143610612 (GRCh38)
8:144692782 (GRCh37)
Canonical SPDI:: NC_000008.11:143610611:G:A
Gene:: PYCR3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000008.11:g.143610612G>A, NC_000008.10:g.144692782G>A, NG_051357.1:g.4003C>T, NT_187571.1:g.100652G>A

Select item 148608069420.

rs1486080694 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143611460 (GRCh38)
8:144693630 (GRCh37)
Canonical SPDI:: NC_000008.11:143611459:G:A
Gene:: PYCR3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.143611460G>A, NC_000008.10:g.144693630G>A, NG_051357.1:g.3155C>T, NT_187571.1:g.101500G>A

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