SNP Links for Gene (Select 79706) - SNP

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Select item 14913295901.

rs1491329590 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGTTT,GTTT [Show Flanks]
Chromosome:: 7:102419895 (GRCh38)
7:102060343 (GRCh37)
Canonical SPDI:: NC_000007.14:102419895:T:TGTGTTT,NC_000007.14:102419895:T:TGTTT
Gene:: PRKRIP1 (Varview), LOC100630923 (Varview), LOC105375433 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.102419896TG[2]TTT[1], NC_000007.14:g.102419896_102419897insGTTT, NC_000007.13:g.102060343TG[2]TTT[1], NC_000007.13:g.102060343_102060344insGTTT, NW_003571037.1:g.344226TG[2]TTT[1], NW_003571037.1:g.344226_344227insGTTT

Select item 14910178352.

rs1491017835 has merged into rs11361254 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TTT,TTTT,TTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:102411813 (GRCh38)
7:102052260 (GRCh37)
Canonical SPDI:: NC_000007.14:102411806:TTTTTTTTTTT:TTTTTT,NC_000007.14:102411806:TTTTTTTTTTT:TTTTTTTTT,NC_000007.14:102411806:TTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:102411806:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:102411806:TTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:102411806:TTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:102411806:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102411806:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:102411806:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PRKRIP1 (Varview), LOC100630923 (Varview), LOC105375433 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
T=0.06869/344 (1000Genomes)
T=0.150301/150 (GoNL)
T=0.2/8 (GENOME_DK)
T=0.253333/152 (NorthernSweden)
T=0.318799/84383 (TOPMED)
HGVS:: NC_000007.14:g.102411813_102411817del, NC_000007.14:g.102411816_102411817del, NC_000007.14:g.102411817del, NC_000007.14:g.102411817dup, NC_000007.14:g.102411815_102411817dup, NC_000007.14:g.102411813_102411817dup, NC_000007.14:g.102411807_102411817dup, NC_000007.14:g.102411817_102411818insTTTTTTTTTTTTT, NC_000007.14:g.102411817_102411818insTTTTTTTTTTTTTTT, NC_000007.13:g.102052260_102052264del, NC_000007.13:g.102052263_102052264del, NC_000007.13:g.102052264del, NC_000007.13:g.102052264dup, NC_000007.13:g.102052262_102052264dup, NC_000007.13:g.102052260_102052264dup, NC_000007.13:g.102052254_102052264dup, NC_000007.13:g.102052264_102052265insTTTTTTTTTTTTT, NC_000007.13:g.102052264_102052265insTTTTTTTTTTTTTTT, NW_003571037.1:g.336143_336147del, NW_003571037.1:g.336146_336147del, NW_003571037.1:g.336147del, NW_003571037.1:g.336147dup, NW_003571037.1:g.336145_336147dup, NW_003571037.1:g.336143_336147dup, NW_003571037.1:g.336137_336147dup, NW_003571037.1:g.336147_336148insTTTTTTTTTTTTT, NW_003571037.1:g.336147_336148insTTTTTTTTTTTTTTT

Select item 14909371733.

rs1490937173 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:102394708 (GRCh38)
7:102035155 (GRCh37)
Canonical SPDI:: NC_000007.14:102394707:G:A,NC_000007.14:102394707:G:T
Gene:: PRKRIP1 (Varview), LOC100630923 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
T=0.000071/1 (TOMMO)
HGVS:: NC_000007.14:g.102394708G>A, NC_000007.14:g.102394708G>T, NC_000007.13:g.102035155G>A, NC_000007.13:g.102035155G>T, NW_003571037.1:g.319038G>A, NW_003571037.1:g.319038G>T

Select item 14908206394.

rs1490820639 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCAGG>- [Show Flanks]
Chromosome:: 7:102401522 (GRCh38)
7:102041969 (GRCh37)
Canonical SPDI:: NC_000007.14:102401518:AGGTCAGG:AGG
Gene:: PRKRIP1 (Varview), LOC100630923 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGG=0./0 (ALFA)
-=0.00005/7 (GnomAD)
-=0.000057/15 (TOPMED)
-=0.000312/2 (1000Genomes)
HGVS:: NC_000007.14:g.102401522_102401526del, NC_000007.13:g.102041969_102041973del, NW_003571037.1:g.325852_325856del

Select item 14908031445.

rs1490803144 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:102415919 (GRCh38)
7:102056366 (GRCh37)
Canonical SPDI:: NC_000007.14:102415918:C:G
Gene:: PRKRIP1 (Varview), LOC100630923 (Varview), LOC105375433 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.102415919C>G, NC_000007.13:g.102056366C>G, NW_003571037.1:g.340249C>G

Select item 14907712916.

rs1490771291 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:102416712 (GRCh38)
7:102057159 (GRCh37)
Canonical SPDI:: NC_000007.14:102416711:C:T
Gene:: PRKRIP1 (Varview), LOC100630923 (Varview), LOC105375433 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000036/5 (GnomAD)
HGVS:: NC_000007.14:g.102416712C>T, NC_000007.13:g.102057159C>T, NW_003571037.1:g.341042C>T

Select item 14906755557.

rs1490675555 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 7:102423078 (GRCh38)
7:102063526 (GRCh37)
Canonical SPDI:: NC_000007.14:102423078:T:TCT
Gene:: PRKRIP1 (Varview), LOC100630923 (Varview), LOC105375433 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0./0 (ALFA)
TC=0.000007/1 (GnomAD)
TC=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.102423079_102423080insCT, NC_000007.13:g.102063526_102063527insCT, NW_003571037.1:g.347409_347410insCT

Select item 14905406748.

rs1490540674 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:102408594 (GRCh38)
7:102049041 (GRCh37)
Canonical SPDI:: NC_000007.14:102408593:A:G
Gene:: PRKRIP1 (Varview), LOC100630923 (Varview), LOC105375433 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.102408594A>G, NC_000007.13:g.102049041A>G, NW_003571037.1:g.332924A>G

Select item 14905267079.

rs1490526707 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:102422176 (GRCh38)
7:102062623 (GRCh37)
Canonical SPDI:: NC_000007.14:102422175:T:G
Gene:: PRKRIP1 (Varview), LOC100630923 (Varview), LOC105375433 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000009/1 (GnomAD)
HGVS:: NC_000007.14:g.102422176T>G, NC_000007.13:g.102062623T>G, NW_003571037.1:g.346506T>G

Select item 149031147410.

rs1490311474 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:102415492 (GRCh38)
7:102055939 (GRCh37)
Canonical SPDI:: NC_000007.14:102415491:T:C
Gene:: PRKRIP1 (Varview), LOC100630923 (Varview), LOC105375433 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.102415492T>C, NC_000007.13:g.102055939T>C, NW_003571037.1:g.339822T>C

Select item 149028026711.

rs1490280267 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:102416278 (GRCh38)
7:102056725 (GRCh37)
Canonical SPDI:: NC_000007.14:102416277:T:G
Gene:: PRKRIP1 (Varview), LOC100630923 (Varview), LOC105375433 (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_000007.14:g.102416278T>G, NC_000007.13:g.102056725T>G, NW_003571037.1:g.340608T>G

Select item 149016805612.

rs1490168056 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:102422605 (GRCh38)
7:102063052 (GRCh37)
Canonical SPDI:: NC_000007.14:102422604:G:A
Gene:: PRKRIP1 (Varview), LOC100630923 (Varview), LOC105375433 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.102422605G>A, NC_000007.13:g.102063052G>A, NW_003571037.1:g.346935G>A

Select item 149004007513.

rs1490040075 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:102421915 (GRCh38)
7:102062362 (GRCh37)
Canonical SPDI:: NC_000007.14:102421914:C:T
Gene:: PRKRIP1 (Varview), LOC100630923 (Varview), LOC105375433 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.102421915C>T, NC_000007.13:g.102062362C>T, NW_003571037.1:g.346245C>T

Select item 148981972914.

rs1489819729 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:102414977 (GRCh38)
7:102055424 (GRCh37)
Canonical SPDI:: NC_000007.14:102414976:A:G
Gene:: PRKRIP1 (Varview), LOC100630923 (Varview), LOC105375433 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.102414977A>G, NC_000007.13:g.102055424A>G, NW_003571037.1:g.339307A>G

Select item 148978377915.

rs1489783779 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:102415951 (GRCh38)
7:102056398 (GRCh37)
Canonical SPDI:: NC_000007.14:102415950:C:G,NC_000007.14:102415950:C:T
Gene:: PRKRIP1 (Varview), LOC100630923 (Varview), LOC105375433 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000007.14:g.102415951C>G, NC_000007.14:g.102415951C>T, NC_000007.13:g.102056398C>G, NC_000007.13:g.102056398C>T, NW_003571037.1:g.340281C>G, NW_003571037.1:g.340281C>T

Select item 148972698816.

rs1489726988 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:102406105 (GRCh38)
7:102046552 (GRCh37)
Canonical SPDI:: NC_000007.14:102406104:T:A
Gene:: PRKRIP1 (Varview), MIR548O (Varview), LOC100630923 (Varview), LOC105375433 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.102406105T>A, NC_000007.13:g.102046552T>A, NW_003571037.1:g.330435T>A, XR_007060460.1:n.2533A>T, XR_007060459.1:n.2346A>T

Select item 148967460617.

rs1489674606 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:102407003 (GRCh38)
7:102047450 (GRCh37)
Canonical SPDI:: NC_000007.14:102407002:A:G
Gene:: PRKRIP1 (Varview), MIR548O (Varview), LOC100630923 (Varview), LOC105375433 (Varview)
Functional Consequence:: downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000034/9 (TOPMED)
HGVS:: NC_000007.14:g.102407003A>G, NC_000007.13:g.102047450A>G, NW_003571037.1:g.331333A>G, XR_007060460.1:n.1635T>C, XR_007060459.1:n.1448T>C

Select item 148966747018.

rs1489667470 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:102420951 (GRCh38)
7:102061398 (GRCh37)
Canonical SPDI:: NC_000007.14:102420950:C:T
Gene:: PRKRIP1 (Varview), LOC100630923 (Varview), LOC105375433 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
T=0.000071/1 (TOMMO)
HGVS:: NC_000007.14:g.102420951C>T, NC_000007.13:g.102061398C>T, NW_003571037.1:g.345281C>T

Select item 148960315319.

rs1489603153 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:102399654 (GRCh38)
7:102040101 (GRCh37)
Canonical SPDI:: NC_000007.14:102399653:T:G
Gene:: PRKRIP1 (Varview), LOC100630923 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.102399654T>G, NC_000007.13:g.102040101T>G, NW_003571037.1:g.323984T>G

Select item 148959999020.

rs1489599990 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 7:102403274 (GRCh38)
7:102043721 (GRCh37)
Canonical SPDI:: NC_000007.14:102403273:G:
Gene:: PRKRIP1 (Varview), LOC100630923 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.102403274del, NC_000007.13:g.102043721del, NW_003571037.1:g.327604del

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