SNP Links for Gene (Select 654790) - SNP

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Select item 14915127881.

rs1491512788 has merged into rs10623211 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGT>-,GTGTGT,GTGTGTGTGT,GTGTGTGTGTGT [Show Flanks]
Chromosome:: 1:161276731 (GRCh38)
1:161246521 (GRCh37)
Canonical SPDI:: NC_000001.11:161276725:TGTGTGTGTGTGT:TGTGT,NC_000001.11:161276725:TGTGTGTGTGTGT:TGTGTGTGTGT,NC_000001.11:161276725:TGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000001.11:161276725:TGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT
Gene:: PCP4L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGT=0./0 (ALFA)
TG=0.35/14 (GENOME_DK)
TG=0.37976/379 (GoNL)
TG=0.44069/2207 (1000Genomes)
TG=0.45833/275 (NorthernSweden)
HGVS:: NC_000001.11:g.161276727GT[2], NC_000001.11:g.161276727GT[5], NC_000001.11:g.161276727GT[7], NC_000001.11:g.161276727GT[8], NC_000001.10:g.161246517GT[2], NC_000001.10:g.161246517GT[5], NC_000001.10:g.161246517GT[7], NC_000001.10:g.161246517GT[8]

Select item 14915093752.

rs1491509375 has merged into rs11302998 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:161275525 (GRCh38)
1:161245315 (GRCh37)
Canonical SPDI:: NC_000001.11:161275515:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:161275515:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:161275515:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:161275515:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:161275515:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:161275515:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:161275515:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:161275515:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:161275515:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:161275515:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161275515:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161275515:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161275515:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161275515:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161275515:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161275515:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161275515:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161275515:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PCP4L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
A=0.2897/1451 (1000Genomes)
HGVS:: NC_000001.11:g.161275525_161275534del, NC_000001.11:g.161275526_161275534del, NC_000001.11:g.161275527_161275534del, NC_000001.11:g.161275530_161275534del, NC_000001.11:g.161275531_161275534del, NC_000001.11:g.161275532_161275534del, NC_000001.11:g.161275533_161275534del, NC_000001.11:g.161275534del, NC_000001.11:g.161275534dup, NC_000001.11:g.161275533_161275534dup, NC_000001.11:g.161275532_161275534dup, NC_000001.11:g.161275530_161275534dup, NC_000001.11:g.161275529_161275534dup, NC_000001.11:g.161275528_161275534dup, NC_000001.11:g.161275527_161275534dup, NC_000001.11:g.161275525_161275534dup, NC_000001.11:g.161275522_161275534dup, NC_000001.11:g.161275516_161275534A[23]CAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.161245315_161245324del, NC_000001.10:g.161245316_161245324del, NC_000001.10:g.161245317_161245324del, NC_000001.10:g.161245320_161245324del, NC_000001.10:g.161245321_161245324del, NC_000001.10:g.161245322_161245324del, NC_000001.10:g.161245323_161245324del, NC_000001.10:g.161245324del, NC_000001.10:g.161245324dup, NC_000001.10:g.161245323_161245324dup, NC_000001.10:g.161245322_161245324dup, NC_000001.10:g.161245320_161245324dup, NC_000001.10:g.161245319_161245324dup, NC_000001.10:g.161245318_161245324dup, NC_000001.10:g.161245317_161245324dup, NC_000001.10:g.161245315_161245324dup, NC_000001.10:g.161245312_161245324dup, NC_000001.10:g.161245306_161245324A[23]CAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14914665453.

rs1491466545 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 1:161262457 (GRCh38)
1:161232247 (GRCh37)
Canonical SPDI:: NC_000001.11:161262455:AGA:A
Gene:: PCP4L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.161262457_161262458del, NC_000001.10:g.161232247_161232248del

Select item 14913541344.

rs1491354134 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:161275515 (GRCh38)
1:161245305 (GRCh37)
Canonical SPDI:: NC_000001.11:161275514:CA:
Gene:: PCP4L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000001.11:g.161275515_161275516del, NC_000001.10:g.161245305_161245306del

Select item 14908753435.

rs1490875343 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:161267605 (GRCh38)
1:161237395 (GRCh37)
Canonical SPDI:: NC_000001.11:161267604:G:T
Gene:: PCP4L1 (Varview)
Functional Consequence:: intron_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_000001.11:g.161267605G>T, NC_000001.10:g.161237395G>T

Select item 14908662906.

rs1490866290 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:161283789 (GRCh38)
1:161253579 (GRCh37)
Canonical SPDI:: NC_000001.11:161283788:G:A
Gene:: PCP4L1 (Varview), LOC105371472 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000447/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000446/2 (Estonian)
HGVS:: NC_000001.11:g.161283789G>A, NC_000001.10:g.161253579G>A, XR_922213.2:n.555C>T

Select item 14907421687.

rs1490742168 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:161259012 (GRCh38)
1:161228802 (GRCh37)
Canonical SPDI:: NC_000001.11:161259011:G:T
Gene:: PCP4L1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
HGVS:: NC_000001.11:g.161259012G>T, NC_000001.10:g.161228802G>T, XM_017002154.3:c.-230G>T, XM_017002154.2:c.-230G>T

Select item 14906528738.

rs1490652873 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:161260947 (GRCh38)
1:161230737 (GRCh37)
Canonical SPDI:: NC_000001.11:161260946:C:G
Gene:: PCP4L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.161260947C>G, NC_000001.10:g.161230737C>G

Select item 14905948759.

rs1490594875 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 1:161277903 (GRCh38)
1:161247693 (GRCh37)
Canonical SPDI:: NC_000001.11:161277902:TTTT:TTT
Gene:: PCP4L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.161277906del, NC_000001.10:g.161247696del

Select item 149057875710.

rs1490578757 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:161266107 (GRCh38)
1:161235897 (GRCh37)
Canonical SPDI:: NC_000001.11:161266106:A:G,NC_000001.11:161266106:A:T
Gene:: PCP4L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.161266107A>G, NC_000001.11:g.161266107A>T, NC_000001.10:g.161235897A>G, NC_000001.10:g.161235897A>T

Select item 149057811511.

rs1490578115 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:161284427 (GRCh38)
1:161254217 (GRCh37)
Canonical SPDI:: NC_000001.11:161284426:T:A
Gene:: PCP4L1 (Varview), LOC105371472 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161284427T>A, NC_000001.10:g.161254217T>A, XM_017002154.3:c.162T>A, XM_017002154.2:c.162T>A, XM_017002154.1:c.162T>A, NM_001102566.2:c.153T>A, NM_001102566.1:c.153T>A

Select item 149052491512.

rs1490524915 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:161276753 (GRCh38)
1:161246543 (GRCh37)
Canonical SPDI:: NC_000001.11:161276752:A:T
Gene:: PCP4L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000541/10 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000079/10 (GnomAD)
HGVS:: NC_000001.11:g.161276753A>T, NC_000001.10:g.161246543A>T

Select item 149034488413.

rs1490344884 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:161274929 (GRCh38)
1:161244719 (GRCh37)
Canonical SPDI:: NC_000001.11:161274928:C:T
Gene:: PCP4L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.161274929C>T, NC_000001.10:g.161244719C>T

Select item 149030378414.

rs1490303784 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GC [Show Flanks]
Chromosome:: 1:161270377 (GRCh38)
1:161240168 (GRCh37)
Canonical SPDI:: NC_000001.11:161270377:GC:GCGC
Gene:: PCP4L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: GC=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.161270378_161270379dup, NC_000001.10:g.161240168_161240169dup

Select item 149025253115.

rs1490252531 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:161268440 (GRCh38)
1:161238230 (GRCh37)
Canonical SPDI:: NC_000001.11:161268439:A:T
Gene:: PCP4L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.161268440A>T, NC_000001.10:g.161238230A>T

Select item 149009294816.

rs1490092948 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:161268259 (GRCh38)
1:161238049 (GRCh37)
Canonical SPDI:: NC_000001.11:161268258:A:G
Gene:: PCP4L1 (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_000001.11:g.161268259A>G, NC_000001.10:g.161238049A>G

Select item 148983178117.

rs1489831781 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:161260440 (GRCh38)
1:161230230 (GRCh37)
Canonical SPDI:: NC_000001.11:161260439:G:T
Gene:: PCP4L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.161260440G>T, NC_000001.10:g.161230230G>T

Select item 148979471518.

rs1489794715 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:161262883 (GRCh38)
1:161232673 (GRCh37)
Canonical SPDI:: NC_000001.11:161262882:A:G
Gene:: PCP4L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000396/6 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000036/5 (GnomAD)
G=0.001339/6 (Estonian)
HGVS:: NC_000001.11:g.161262883A>G, NC_000001.10:g.161232673A>G

Select item 148965397619.

rs1489653976 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 1:161281511 (GRCh38)
1:161251301 (GRCh37)
Canonical SPDI:: NC_000001.11:161281510:G:C,NC_000001.11:161281510:G:T
Gene:: PCP4L1 (Varview), LOC105371472 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
T=0.000156/1 (1000Genomes)
C=0.000779/13 (TOMMO)
C=0.00113/2 (Korea1K)
C=0.002757/8 (KOREAN)
HGVS:: NC_000001.11:g.161281511G>C, NC_000001.11:g.161281511G>T, NC_000001.10:g.161251301G>C, NC_000001.10:g.161251301G>T

Select item 148952021420.

rs1489520214 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:161281615 (GRCh38)
1:161251405 (GRCh37)
Canonical SPDI:: NC_000001.11:161281614:C:G,NC_000001.11:161281614:C:T
Gene:: PCP4L1 (Varview), LOC105371472 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.161281615C>G, NC_000001.11:g.161281615C>T, NC_000001.10:g.161251405C>G, NC_000001.10:g.161251405C>T

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