SNP Links for Gene (Select 5814) - SNP

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Select item 14912927321.

rs1491292732 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 7:44882128 (GRCh38)
7:44921728 (GRCh37)
Canonical SPDI:: NC_000007.14:44882128::T
Gene:: PURB (Varview), MIR4657 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000121/32 (TOPMED)
HGVS:: NC_000007.14:g.44882128_44882129insT, NC_000007.13:g.44921727_44921728insT, NM_033224.5:c.*2281_*2282insA, NM_033224.4:c.*2281_*2282insA, NM_033224.3:c.*2281_*2282insA

Select item 14912441792.

rs1491244179 has merged into rs1398098937 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAA [Show Flanks]
Chromosome:: 7:44882129 (GRCh38)
7:44921728 (GRCh37)
Canonical SPDI:: NC_000007.14:44882127:AAA:A,NC_000007.14:44882127:AAA:AAAA
Gene:: PURB (Varview), MIR4657 (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.44882129_44882130del, NC_000007.14:g.44882130dup, NC_000007.13:g.44921728_44921729del, NC_000007.13:g.44921729dup, NM_033224.5:c.*2281_*2282del, NM_033224.5:c.*2282dup, NM_033224.4:c.*2281_*2282del, NM_033224.4:c.*2282dup, NM_033224.3:c.*2281_*2282del, NM_033224.3:c.*2282dup

Select item 14909300693.

rs1490930069 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:44882785 (GRCh38)
7:44922384 (GRCh37)
Canonical SPDI:: NC_000007.14:44882784:T:G
Gene:: PURB (Varview), MIR4657 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.44882785T>G, NC_000007.13:g.44922384T>G, NM_033224.5:c.*1625A>C, NM_033224.4:c.*1625A>C, NM_033224.3:c.*1625A>C

Select item 14908939004.

rs1490893900 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:44883749 (GRCh38)
7:44923348 (GRCh37)
Canonical SPDI:: NC_000007.14:44883748:A:G
Gene:: PURB (Varview), MIR4657 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_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_000007.14:g.44883749A>G, NC_000007.13:g.44923348A>G, NM_033224.5:c.*661T>C, NM_033224.4:c.*661T>C, NM_033224.3:c.*661T>C

Select item 14906832625.

rs1490683262 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:44876690 (GRCh38)
7:44916289 (GRCh37)
Canonical SPDI:: NC_000007.14:44876689:C:T
Gene:: PURB (Varview)
Functional Consequence:: 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_000007.14:g.44876690C>T, NC_000007.13:g.44916289C>T, NM_033224.5:c.*7720G>A, NM_033224.4:c.*7720G>A, NM_033224.3:c.*7720G>A

Select item 14905180796.

rs1490518079 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:44876263 (GRCh38)
7:44915862 (GRCh37)
Canonical SPDI:: NC_000007.14:44876262:A:C
Gene:: PURB (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.44876263A>C, NC_000007.13:g.44915862A>C

Select item 14904621357.

rs1490462135 has merged into rs1384060952 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGC>-,CGCCGC [Show Flanks]
Chromosome:: 7:44884454 (GRCh38)
7:44924053 (GRCh37)
Canonical SPDI:: NC_000007.14:44884444:CGCCGCCGCCGC:CGCCGCCGC,NC_000007.14:44884444:CGCCGCCGCCGC:CGCCGCCGCCGCCGC
Gene:: PURB (Varview)
Functional Consequence:: inframe_deletion,inframe_insertion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCCGCCGCCGCCGC=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.44884445CGC[3], NC_000007.14:g.44884445CGC[5], NC_000007.13:g.44924044CGC[3], NC_000007.13:g.44924044CGC[5], NM_033224.5:c.893GCG[3], NM_033224.5:c.893GCG[5], NM_033224.4:c.893GCG[3], NM_033224.4:c.893GCG[5], NM_033224.3:c.893GCG[3], NM_033224.3:c.893GCG[5], NP_150093.1:p.Gly301del, NP_150093.1:p.Gly301dup

Select item 14904470628.

rs1490447062 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 7:44878064 (GRCh38)
7:44917664 (GRCh37)
Canonical SPDI:: NC_000007.14:44878064::T
Gene:: PURB (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.44878064_44878065insT, NC_000007.13:g.44917663_44917664insT, NG_078337.1:g.494_495insT, NM_033224.5:c.*6345_*6346insA, NM_033224.4:c.*6345_*6346insA, NM_033224.3:c.*6345_*6346insA

Select item 14901936349.

rs1490193634 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:44877211 (GRCh38)
7:44916810 (GRCh37)
Canonical SPDI:: NC_000007.14:44877210:G:A
Gene:: PURB (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.44877211G>A, NC_000007.13:g.44916810G>A, NM_033224.5:c.*7199C>T, NM_033224.4:c.*7199C>T, NM_033224.3:c.*7199C>T

Select item 148974488510.

rs1489744885 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:44882065 (GRCh38)
7:44921664 (GRCh37)
Canonical SPDI:: NC_000007.14:44882064:A:T
Gene:: PURB (Varview), MIR4657 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_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_000007.14:g.44882065A>T, NC_000007.13:g.44921664A>T, NM_033224.5:c.*2345T>A, NM_033224.4:c.*2345T>A, NM_033224.3:c.*2345T>A

Select item 148965892611.

rs1489658926 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:44877041 (GRCh38)
7:44916640 (GRCh37)
Canonical SPDI:: NC_000007.14:44877040:T:C
Gene:: PURB (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000023/6 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.44877041T>C, NC_000007.13:g.44916640T>C, NM_033224.5:c.*7369A>G, NM_033224.4:c.*7369A>G, NM_033224.3:c.*7369A>G

Select item 148961421512.

rs1489614215 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:44885646 (GRCh38)
7:44925245 (GRCh37)
Canonical SPDI:: NC_000007.14:44885645:G:T
Gene:: PURB (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.00003/8 (TOPMED)
T=0.000043/6 (GnomAD)
HGVS:: NC_000007.14:g.44885646G>T, NC_000007.13:g.44925245G>T

Select item 148866367213.

rs1488663672 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:44878119 (GRCh38)
7:44917718 (GRCh37)
Canonical SPDI:: NC_000007.14:44878118:A:G
Gene:: PURB (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.44878119A>G, NC_000007.13:g.44917718A>G, NM_033224.5:c.*6291T>C, NM_033224.4:c.*6291T>C, NM_033224.3:c.*6291T>C

Select item 148857240314.

rs1488572403 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 7:44880704 (GRCh38)
7:44920303 (GRCh37)
Canonical SPDI:: NC_000007.14:44880703:A:C,NC_000007.14:44880703:A:G
Gene:: PURB (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.44880704A>C, NC_000007.14:g.44880704A>G, NC_000007.13:g.44920303A>C, NC_000007.13:g.44920303A>G, NM_033224.5:c.*3706T>G, NM_033224.5:c.*3706T>C, NM_033224.4:c.*3706T>G, NM_033224.4:c.*3706T>C, NM_033224.3:c.*3706T>G, NM_033224.3:c.*3706T>C

Select item 148852232515.

rs1488522325 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:44882384 (GRCh38)
7:44921983 (GRCh37)
Canonical SPDI:: NC_000007.14:44882383:T:C
Gene:: PURB (Varview), MIR4657 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.44882384T>C, NC_000007.13:g.44921983T>C, NM_033224.5:c.*2026A>G, NM_033224.4:c.*2026A>G, NM_033224.3:c.*2026A>G

Select item 148846955316.

rs1488469553 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCTT>- [Show Flanks]
Chromosome:: 7:44881637 (GRCh38)
7:44921236 (GRCh37)
Canonical SPDI:: NC_000007.14:44881635:TCCTT:T
Gene:: PURB (Varview), MIR4657 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.44881637_44881640del, NC_000007.13:g.44921236_44921239del, NM_033224.5:c.*2771_*2774del, NM_033224.4:c.*2771_*2774del, NM_033224.3:c.*2771_*2774del

Select item 148781000617.

rs1487810006 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:44882435 (GRCh38)
7:44922034 (GRCh37)
Canonical SPDI:: NC_000007.14:44882434:G:A
Gene:: PURB (Varview), MIR4657 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.44882435G>A, NC_000007.13:g.44922034G>A, NM_033224.5:c.*1975C>T, NM_033224.4:c.*1975C>T, NM_033224.3:c.*1975C>T

Select item 148771884518.

rs1487718845 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:44876682 (GRCh38)
7:44916281 (GRCh37)
Canonical SPDI:: NC_000007.14:44876681:C:T
Gene:: PURB (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.44876682C>T, NC_000007.13:g.44916281C>T, NM_033224.5:c.*7728G>A, NM_033224.4:c.*7728G>A, NM_033224.3:c.*7728G>A

Select item 148767670219.

rs1487676702 [Homo sapiens]

Variant type:: SNV:
Alleles:: C>-
Chromosome:: no mapping
Canonical SPDI:

Select item 148748866920.

rs1487488669 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:44882080 (GRCh38)
7:44921679 (GRCh37)
Canonical SPDI:: NC_000007.14:44882079:C:T
Gene:: PURB (Varview), MIR4657 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_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_000007.14:g.44882080C>T, NC_000007.13:g.44921679C>T, NM_033224.5:c.*2330G>A, NM_033224.4:c.*2330G>A, NM_033224.3:c.*2330G>A

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