SNP Links for Gene (Select 10343) - SNP

Links from Gene

Items: 1 to 20 of 2932

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Select item 14907434661.

rs1490743466 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 22:46258519 (GRCh38)
22:46654416 (GRCh37)
Canonical SPDI:: NC_000022.11:46258518:A:C
Gene:: PKDREJ (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.46258519A>C, NC_000022.10:g.46654416A>C, NM_006071.2:c.4804T>G, NM_006071.1:c.4804T>G, NP_006062.1:p.Tyr1602Asp

Select item 14902216162.

rs1490221616 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:46257438 (GRCh38)
22:46653335 (GRCh37)
Canonical SPDI:: NC_000022.11:46257437:G:A
Gene:: PKDREJ (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.46257438G>A, NC_000022.10:g.46653335G>A, NM_006071.2:c.5885C>T, NM_006071.1:c.5885C>T, NP_006062.1:p.Ser1962Leu

Select item 14901268533.

rs1490126853 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:46258558 (GRCh38)
22:46654455 (GRCh37)
Canonical SPDI:: NC_000022.11:46258557:T:C
Gene:: PKDREJ (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.46258558T>C, NC_000022.10:g.46654455T>C, NM_006071.2:c.4765A>G, NM_006071.1:c.4765A>G, NP_006062.1:p.Ser1589Gly

Select item 14900752314.

rs1490075231 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 22:46259639 (GRCh38)
22:46655536 (GRCh37)
Canonical SPDI:: NC_000022.11:46259638:A:T
Gene:: PKDREJ (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000022.11:g.46259639A>T, NC_000022.10:g.46655536A>T, NM_006071.2:c.3684T>A, NM_006071.1:c.3684T>A, NP_006062.1:p.Asp1228Glu

Select item 14898253425.

rs1489825342 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:46258933 (GRCh38)
22:46654830 (GRCh37)
Canonical SPDI:: NC_000022.11:46258932:G:A
Gene:: PKDREJ (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.46258933G>A, NC_000022.10:g.46654830G>A, NM_006071.2:c.4390C>T, NM_006071.1:c.4390C>T, NP_006062.1:p.Pro1464Ser

Select item 14893566726.

rs1489356672 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 22:46256649 (GRCh38)
22:46652547 (GRCh37)
Canonical SPDI:: NC_000022.11:46256649:A:AA
Gene:: PKDREJ (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.46256650dup, NC_000022.10:g.46652547dup, NM_006071.2:c.6673dup, NM_006071.1:c.6673dup, NP_006062.1:p.Tyr2225fs

Select item 14891092617.

rs1489109261 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:46260089 (GRCh38)
22:46655986 (GRCh37)
Canonical SPDI:: NC_000022.11:46260088:G:A
Gene:: PKDREJ (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.46260089G>A, NC_000022.10:g.46655986G>A, NM_006071.2:c.3234C>T, NM_006071.1:c.3234C>T

Select item 14889783128.

rs1488978312 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:46260879 (GRCh38)
22:46656776 (GRCh37)
Canonical SPDI:: NC_000022.11:46260878:G:C
Gene:: PKDREJ (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.46260879G>C, NC_000022.10:g.46656776G>C, NM_006071.2:c.2444C>G, NM_006071.1:c.2444C>G, NP_006062.1:p.Ser815Cys

Select item 14888534649.

rs1488853464 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:46263234 (GRCh38)
22:46659131 (GRCh37)
Canonical SPDI:: NC_000022.11:46263233:G:A
Gene:: PKDREJ (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.46263234G>A, NC_000022.10:g.46659131G>A, NM_006071.2:c.89C>T, NM_006071.1:c.89C>T, NP_006062.1:p.Ala30Val

Select item 148879171110.

rs1488791711 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:46262790 (GRCh38)
22:46658687 (GRCh37)
Canonical SPDI:: NC_000022.11:46262789:A:G
Gene:: PKDREJ (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.46262790A>G, NC_000022.10:g.46658687A>G, NM_006071.2:c.533T>C, NM_006071.1:c.533T>C, NP_006062.1:p.Val178Ala

Select item 148854278711.

rs1488542787 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 22:46259969 (GRCh38)
22:46655867 (GRCh37)
Canonical SPDI:: NC_000022.11:46259969:T:TT
Gene:: PKDREJ (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.46259970dup, NC_000022.10:g.46655867dup, NM_006071.2:c.3353dup, NM_006071.1:c.3353dup, NP_006062.1:p.Tyr1118Ter

Select item 148850910112.

rs1488509101 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:46255549 (GRCh38)
22:46651446 (GRCh37)
Canonical SPDI:: NC_000022.11:46255548:G:A
Gene:: PKDREJ (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000042/11 (TOPMED)
HGVS:: NC_000022.11:g.46255549G>A, NC_000022.10:g.46651446G>A

Select item 148687430113.

rs1486874301 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:46258209 (GRCh38)
22:46654106 (GRCh37)
Canonical SPDI:: NC_000022.11:46258208:C:T
Gene:: PKDREJ (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.46258209C>T, NC_000022.10:g.46654106C>T, NM_006071.2:c.5114G>A, NM_006071.1:c.5114G>A, NP_006062.1:p.Arg1705Lys

Select item 148657280114.

rs1486572801 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:46255468 (GRCh38)
22:46651365 (GRCh37)
Canonical SPDI:: NC_000022.11:46255467:C:T
Gene:: PKDREJ (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000022.11:g.46255468C>T, NC_000022.10:g.46651365C>T

Select item 148607476215.

rs1486074762 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 22:46262659 (GRCh38)
22:46658556 (GRCh37)
Canonical SPDI:: NC_000022.11:46262658:T:A,NC_000022.11:46262658:T:G
Gene:: PKDREJ (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.46262659T>A, NC_000022.11:g.46262659T>G, NC_000022.10:g.46658556T>A, NC_000022.10:g.46658556T>G, NM_006071.2:c.664A>T, NM_006071.2:c.664A>C, NM_006071.1:c.664A>T, NM_006071.1:c.664A>C, NP_006062.1:p.Ile222Phe, NP_006062.1:p.Ile222Leu

Select item 148601483116.

rs1486014831 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:46256656 (GRCh38)
22:46652553 (GRCh37)
Canonical SPDI:: NC_000022.11:46256655:T:C
Gene:: PKDREJ (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.46256656T>C, NC_000022.10:g.46652553T>C, NM_006071.2:c.6667A>G, NM_006071.1:c.6667A>G, NP_006062.1:p.Met2223Val

Select item 148598373917.

rs1485983739 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:46257769 (GRCh38)
22:46653666 (GRCh37)
Canonical SPDI:: NC_000022.11:46257768:T:C
Gene:: PKDREJ (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000038/10 (TOPMED)
HGVS:: NC_000022.11:g.46257769T>C, NC_000022.10:g.46653666T>C, NM_006071.2:c.5554A>G, NM_006071.1:c.5554A>G, NP_006062.1:p.Ser1852Gly

Select item 148597683718.

rs1485976837 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:46264853 (GRCh38)
22:46660750 (GRCh37)
Canonical SPDI:: NC_000022.11:46264852:A:G
Gene:: PKDREJ (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_000022.11:g.46264853A>G, NC_000022.10:g.46660750A>G

Select item 148530683319.

rs1485306833 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:46263951 (GRCh38)
22:46659848 (GRCh37)
Canonical SPDI:: NC_000022.11:46263950:G:C
Gene:: PKDREJ (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.46263951G>C, NC_000022.10:g.46659848G>C

Select item 148497840120.

rs1484978401 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:46264460 (GRCh38)
22:46660357 (GRCh37)
Canonical SPDI:: NC_000022.11:46264459:C:T
Gene:: PKDREJ (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000026/7 (TOPMED)
HGVS:: NC_000022.11:g.46264460C>T, NC_000022.10:g.46660357C>T

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