SNP Links for Gene (Select 101928388) - SNP

Links from Gene

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Select item 14914382831.

rs1491438283 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 15:41990745 (GRCh38)
15:42282944 (GRCh37)
Canonical SPDI:: NC_000015.10:41990745:T:TCT
Gene:: PLA2G4E (Varview), PLA2G4E-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0./0 (ALFA)
TC=0.01452/7 (NorthernSweden)
TC=0.02137/300 (TOMMO)
TC=0.06846/122 (Korea1K)
TC=0.08935/1166 (GnomAD)
HGVS:: NC_000015.10:g.41990746_41990747insCT, NC_000015.9:g.42282944_42282945insCT, NG_052806.1:g.64958_64959insGA

Select item 14911949432.

rs1491194943 has merged into rs1228531708 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 15:41990756 (GRCh38)
15:42282954 (GRCh37)
Canonical SPDI:: NC_000015.10:41990744:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:41990744:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:41990744:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:41990744:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:41990744:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:41990744:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:41990744:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41990744:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: PLA2G4E (Varview), PLA2G4E-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000015.10:g.41990756_41990764del, NC_000015.10:g.41990759_41990764del, NC_000015.10:g.41990761_41990764del, NC_000015.10:g.41990762_41990764del, NC_000015.10:g.41990763_41990764del, NC_000015.10:g.41990764del, NC_000015.10:g.41990764dup, NC_000015.10:g.41990763_41990764dup, NC_000015.9:g.42282954_42282962del, NC_000015.9:g.42282957_42282962del, NC_000015.9:g.42282959_42282962del, NC_000015.9:g.42282960_42282962del, NC_000015.9:g.42282961_42282962del, NC_000015.9:g.42282962del, NC_000015.9:g.42282962dup, NC_000015.9:g.42282961_42282962dup, NG_052806.1:g.64951_64959del, NG_052806.1:g.64954_64959del, NG_052806.1:g.64956_64959del, NG_052806.1:g.64957_64959del, NG_052806.1:g.64958_64959del, NG_052806.1:g.64959del, NG_052806.1:g.64959dup, NG_052806.1:g.64958_64959dup

Select item 14909681143.

rs1490968114 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 15:41977459 (GRCh38)
15:42269657 (GRCh37)
Canonical SPDI:: NC_000015.10:41977458:A:
Gene:: PLA2G4E-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000043/6 (GnomAD)
-=0.000091/24 (TOPMED)
HGVS:: NC_000015.10:g.41977459del, NC_000015.9:g.42269657del

Select item 14909643544.

rs1490964354 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:41988900 (GRCh38)
15:42281098 (GRCh37)
Canonical SPDI:: NC_000015.10:41988899:G:A
Gene:: PLA2G4E (Varview), PLA2G4E-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000036/5 (GnomAD)
A=0.000042/11 (TOPMED)
HGVS:: NC_000015.10:g.41988900G>A, NC_000015.9:g.42281098G>A, NG_052806.1:g.66804C>T

Select item 14908758695.

rs1490875869 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:41979473 (GRCh38)
15:42271671 (GRCh37)
Canonical SPDI:: NC_000015.10:41979472:G:A
Gene:: PLA2G4E-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.41979473G>A, NC_000015.9:g.42271671G>A

Select item 14904361016.

rs1490436101 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:41994011 (GRCh38)
15:42286209 (GRCh37)
Canonical SPDI:: NC_000015.10:41994010:C:T
Gene:: PLA2G4E (Varview), PLA2G4E-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.41994011C>T, NC_000015.9:g.42286209C>T, NG_052806.1:g.61693G>A

Select item 14903392537.

rs1490339253 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:41980429 (GRCh38)
15:42272627 (GRCh37)
Canonical SPDI:: NC_000015.10:41980428:G:A
Gene:: PLA2G4E-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.41980429G>A, NC_000015.9:g.42272627G>A, NG_052806.1:g.75275C>T

Select item 14902091408.

rs1490209140 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:41995934 (GRCh38)
15:42288132 (GRCh37)
Canonical SPDI:: NC_000015.10:41995933:G:T
Gene:: PLA2G4E (Varview), PLA2G4E-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000015.10:g.41995934G>T, NC_000015.9:g.42288132G>T, NG_052806.1:g.59770C>A

Select item 14901905959.

rs1490190595 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:41981521 (GRCh38)
15:42273719 (GRCh37)
Canonical SPDI:: NC_000015.10:41981520:T:A
Gene:: PLA2G4E (Varview), PLA2G4E-AS1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.41981521T>A, NC_000015.9:g.42273719T>A, NG_052806.1:g.74183A>T

Select item 149014877010.

rs1490148770 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:41976305 (GRCh38)
15:42268503 (GRCh37)
Canonical SPDI:: NC_000015.10:41976304:A:T
Gene:: PLA2G4E-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00061/10 (ALFA)
HGVS:: NC_000015.10:g.41976305A>T, NC_000015.9:g.42268503A>T

Select item 148996297711.

rs1489962977 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:41972672 (GRCh38)
15:42264870 (GRCh37)
Canonical SPDI:: NC_000015.10:41972671:C:G
Gene:: EHD4 (Varview), PLA2G4E-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000015.10:g.41972672C>G, NC_000015.9:g.42264870C>G

Select item 148970541012.

rs1489705410 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:41983097 (GRCh38)
15:42275295 (GRCh37)
Canonical SPDI:: NC_000015.10:41983096:T:C
Gene:: PLA2G4E (Varview), PLA2G4E-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.41983097T>C, NC_000015.9:g.42275295T>C, NG_052806.1:g.72607A>G, NM_001206670.1:c.*657A>G, NM_001395548.1:c.*657A>G, XM_011521238.2:c.*657A>G, XM_011521239.2:c.*657A>G, NM_198442.1:c.*657A>G

Select item 148943738613.

rs1489437386 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:41993358 (GRCh38)
15:42285556 (GRCh37)
Canonical SPDI:: NC_000015.10:41993357:A:C
Gene:: PLA2G4E (Varview), PLA2G4E-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.41993358A>C, NC_000015.9:g.42285556A>C, NG_052806.1:g.62346T>G

Select item 148934110814.

rs1489341108 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:41994116 (GRCh38)
15:42286314 (GRCh37)
Canonical SPDI:: NC_000015.10:41994115:C:T
Gene:: PLA2G4E (Varview), PLA2G4E-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000015.10:g.41994116C>T, NC_000015.9:g.42286314C>T, NG_052806.1:g.61588G>A

Select item 148931101715.

rs1489311017 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:41992971 (GRCh38)
15:42285169 (GRCh37)
Canonical SPDI:: NC_000015.10:41992970:C:T
Gene:: PLA2G4E (Varview), PLA2G4E-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.41992971C>T, NC_000015.9:g.42285169C>T, NG_052806.1:g.62733G>A

Select item 148917175816.

rs1489171758 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:41994351 (GRCh38)
15:42286549 (GRCh37)
Canonical SPDI:: NC_000015.10:41994350:C:T
Gene:: PLA2G4E (Varview), PLA2G4E-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000015.10:g.41994351C>T, NC_000015.9:g.42286549C>T, NG_052806.1:g.61353G>A

Select item 148892707017.

rs1488927070 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:41987549 (GRCh38)
15:42279747 (GRCh37)
Canonical SPDI:: NC_000015.10:41987548:G:A
Gene:: PLA2G4E (Varview), PLA2G4E-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00007/1 (ALFA)
HGVS:: NC_000015.10:g.41987549G>A, NC_000015.9:g.42279747G>A, NG_052806.1:g.68155C>T

Select item 148881082118.

rs1488810821 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:41971100 (GRCh38)
15:42263298 (GRCh37)
Canonical SPDI:: NC_000015.10:41971099:G:A
Gene:: EHD4 (Varview), PLA2G4E-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.41971100G>A, NC_000015.9:g.42263298G>A

Select item 148878250319.

rs1488782503 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:41991050 (GRCh38)
15:42283248 (GRCh37)
Canonical SPDI:: NC_000015.10:41991049:G:T
Gene:: PLA2G4E (Varview), PLA2G4E-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.41991050G>T, NC_000015.9:g.42283248G>T, NG_052806.1:g.64654C>A

Select item 148858236020.

rs1488582360 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:41978941 (GRCh38)
15:42271139 (GRCh37)
Canonical SPDI:: NC_000015.10:41978940:G:A
Gene:: PLA2G4E-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.41978941G>A, NC_000015.9:g.42271139G>A

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