SNP Links for Gene (Select 285189) - SNP

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Select item 14915441871.

rs1491544187 has merged into rs61677606 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 2:106388783 (GRCh38)
2:107005239 (GRCh37)
Canonical SPDI:: NC_000002.12:106388776:AAAAAAAAAAAAA:AAAAAA,NC_000002.12:106388776:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:106388776:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:106388776:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:106388776:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: PLGLA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.0841/154 (Korea1K)
A=0.1/4 (GENOME_DK)
A=0.1383/533 (ALSPAC)
A=0.1383/83 (NorthernSweden)
A=0.158/586 (TWINSUK)
A=0.368/1843 (1000Genomes)
HGVS:: NC_000002.12:g.106388783_106388789del, NC_000002.12:g.106388788_106388789del, NC_000002.12:g.106388789del, NC_000002.12:g.106388789dup, NC_000002.12:g.106388788_106388789dup, NC_000002.11:g.107005239_107005245del, NC_000002.11:g.107005244_107005245del, NC_000002.11:g.107005245del, NC_000002.11:g.107005245dup, NC_000002.11:g.107005244_107005245dup

Select item 14913565972.

rs1491356597 has merged into rs200112833 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 2:106391548 (GRCh38)
2:107008004 (GRCh37)
Canonical SPDI:: NC_000002.12:106391538:AAAAAAAAAAA:AAAAAAAAA,NC_000002.12:106391538:AAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:106391538:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:106391538:AAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:106391538:AAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:106391538:AAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: PLGLA (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.002618/6 (1000Genomes)
A=0.425/17 (GENOME_DK)
A=0.475798/125939 (TOPMED)
HGVS:: NC_000002.12:g.106391548_106391549del, NC_000002.12:g.106391549del, NC_000002.12:g.106391549dup, NC_000002.12:g.106391548_106391549dup, NC_000002.12:g.106391547_106391549dup, NC_000002.12:g.106391546_106391549dup, NC_000002.11:g.107008004_107008005del, NC_000002.11:g.107008005del, NC_000002.11:g.107008005dup, NC_000002.11:g.107008004_107008005dup, NC_000002.11:g.107008003_107008005dup, NC_000002.11:g.107008002_107008005dup

Select item 14912838553.

rs1491283855 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:106388776 (GRCh38)
2:107005232 (GRCh37)
Canonical SPDI:: NC_000002.12:106388775:TA:
Gene:: PLGLA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00009/4 (GnomAD)
HGVS:: NC_000002.12:g.106388776_106388777del, NC_000002.11:g.107005232_107005233del

Select item 14908524734.

rs1490852473 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:106388207 (GRCh38)
2:107004663 (GRCh37)
Canonical SPDI:: NC_000002.12:106388206:T:G
Gene:: PLGLA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.106388207T>G, NC_000002.11:g.107004663T>G

Select item 14908514255.

rs1490851425 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:106384851 (GRCh38)
2:107001307 (GRCh37)
Canonical SPDI:: NC_000002.12:106384850:C:T
Gene:: PLGLA (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000002.12:g.106384851C>T, NC_000002.11:g.107001307C>T

Select item 14908216256.

rs1490821625 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:106385566 (GRCh38)
2:107002022 (GRCh37)
Canonical SPDI:: NC_000002.12:106385565:A:G
Gene:: PLGLA (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_000002.12:g.106385566A>G, NC_000002.11:g.107002022A>G

Select item 14904019157.

rs1490401915 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:106391625 (GRCh38)
2:107008081 (GRCh37)
Canonical SPDI:: NC_000002.12:106391624:A:T
Gene:: PLGLA (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.106391625A>T, NC_000002.11:g.107008081A>T

Select item 14903481798.

rs1490348179 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:106385216 (GRCh38)
2:107001672 (GRCh37)
Canonical SPDI:: NC_000002.12:106385215:G:A
Gene:: PLGLA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000057/8 (GnomAD)
HGVS:: NC_000002.12:g.106385216G>A, NC_000002.11:g.107001672G>A

Select item 14899131729.

rs1489913172 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:106391205 (GRCh38)
2:107007661 (GRCh37)
Canonical SPDI:: NC_000002.12:106391204:A:C
Gene:: PLGLA (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.106391205A>C, NC_000002.11:g.107007661A>C, NR_003506.3:n.651A>C

Select item 148974428110.

rs1489744281 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:106390122 (GRCh38)
2:107006578 (GRCh37)
Canonical SPDI:: NC_000002.12:106390121:T:C
Gene:: PLGLA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.106390122T>C, NC_000002.11:g.107006578T>C

Select item 148960682611.

rs1489606826 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:106384517 (GRCh38)
2:107000973 (GRCh37)
Canonical SPDI:: NC_000002.12:106384516:T:A,NC_000002.12:106384516:T:C
Gene:: PLGLA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.106384517T>A, NC_000002.12:g.106384517T>C, NC_000002.11:g.107000973T>A, NC_000002.11:g.107000973T>C

Select item 148924033712.

rs1489240337 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:106384052 (GRCh38)
2:107000508 (GRCh37)
Canonical SPDI:: NC_000002.12:106384051:A:C
Gene:: PLGLA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.106384052A>C, NC_000002.11:g.107000508A>C

Select item 148897412613.

rs1488974126 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:106390715 (GRCh38)
2:107007171 (GRCh37)
Canonical SPDI:: NC_000002.12:106390714:T:A
Gene:: PLGLA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.106390715T>A, NC_000002.11:g.107007171T>A

Select item 148888143514.

rs1488881435 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:106391774 (GRCh38)
2:107008230 (GRCh37)
Canonical SPDI:: NC_000002.12:106391773:T:G
Gene:: PLGLA (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.00007/1 (ALFA)
HGVS:: NC_000002.12:g.106391774T>G, NC_000002.11:g.107008230T>G

Select item 148879474015.

rs1488794740 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:106390880 (GRCh38)
2:107007336 (GRCh37)
Canonical SPDI:: NC_000002.12:106390879:T:A,NC_000002.12:106390879:T:C
Gene:: PLGLA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.106390880T>A, NC_000002.12:g.106390880T>C, NC_000002.11:g.107007336T>A, NC_000002.11:g.107007336T>C

Select item 148864560316.

rs1488645603 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:106383658 (GRCh38)
2:107000114 (GRCh37)
Canonical SPDI:: NC_000002.12:106383657:G:C
Gene:: PLGLA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.106383658G>C, NC_000002.11:g.107000114G>C

Select item 148852955717.

rs1488529557 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:106380823 (GRCh38)
2:106997279 (GRCh37)
Canonical SPDI:: NC_000002.12:106380822:C:T
Gene:: PLGLA (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.106380823C>T, NC_000002.11:g.106997279C>T

Select item 148830111118.

rs1488301111 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 2:106384142 (GRCh38)
2:107000598 (GRCh37)
Canonical SPDI:: NC_000002.12:106384141:AG:
Gene:: PLGLA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000036/5 (GnomAD)
-=0.000057/15 (TOPMED)
HGVS:: NC_000002.12:g.106384142_106384143del, NC_000002.11:g.107000598_107000599del

Select item 148814589719.

rs1488145897 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:106390231 (GRCh38)
2:107006687 (GRCh37)
Canonical SPDI:: NC_000002.12:106390230:G:A
Gene:: PLGLA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.106390231G>A, NC_000002.11:g.107006687G>A

Select item 148731758720.

rs1487317587 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:106383736 (GRCh38)
2:107000192 (GRCh37)
Canonical SPDI:: NC_000002.12:106383735:C:G,NC_000002.12:106383735:C:T
Gene:: PLGLA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.106383736C>G, NC_000002.12:g.106383736C>T, NC_000002.11:g.107000192C>G, NC_000002.11:g.107000192C>T

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