SNP Links for Gene (Select 64002) - SNP

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Select item 14912556831.

rs1491255683 has merged into rs1049332684 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:192753711 (GRCh38)
2:193618437 (GRCh37)
Canonical SPDI:: NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:192753701:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PCGEM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.192753711_192753720del, NC_000002.12:g.192753712_192753720del, NC_000002.12:g.192753713_192753720del, NC_000002.12:g.192753714_192753720del, NC_000002.12:g.192753716_192753720del, NC_000002.12:g.192753718_192753720del, NC_000002.12:g.192753719_192753720del, NC_000002.12:g.192753720del, NC_000002.12:g.192753720dup, NC_000002.12:g.192753719_192753720dup, NC_000002.12:g.192753718_192753720dup, NC_000002.12:g.192753717_192753720dup, NC_000002.12:g.192753715_192753720dup, NC_000002.12:g.192753713_192753720dup, NC_000002.12:g.192753709_192753720dup, NC_000002.11:g.193618437_193618446del, NC_000002.11:g.193618438_193618446del, NC_000002.11:g.193618439_193618446del, NC_000002.11:g.193618440_193618446del, NC_000002.11:g.193618442_193618446del, NC_000002.11:g.193618444_193618446del, NC_000002.11:g.193618445_193618446del, NC_000002.11:g.193618446del, NC_000002.11:g.193618446dup, NC_000002.11:g.193618445_193618446dup, NC_000002.11:g.193618444_193618446dup, NC_000002.11:g.193618443_193618446dup, NC_000002.11:g.193618441_193618446dup, NC_000002.11:g.193618439_193618446dup, NC_000002.11:g.193618435_193618446dup

Select item 14912202772.

rs1491220277 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:192750713 (GRCh38)
2:193615439 (GRCh37)
Canonical SPDI:: NC_000002.12:192750712:AT:
Gene:: PCGEM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.192750713_192750714del, NC_000002.11:g.193615439_193615440del

Select item 14911754853.

rs1491175485 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:192753702 (GRCh38)
2:193618429 (GRCh37)
Canonical SPDI:: NC_000002.12:192753702::C
Gene:: PCGEM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
C=0.000142/2 (TOMMO)
C=0.000185/19 (GnomAD)
HGVS:: NC_000002.12:g.192753702_192753703insC, NC_000002.11:g.193618428_193618429insC

Select item 14911725184.

rs1491172518 has merged into rs57503421 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 2:192750723 (GRCh38)
2:193615449 (GRCh37)
Canonical SPDI:: NC_000002.12:192750713:TTTTTTTTTTT:TTTTTTTTT,NC_000002.12:192750713:TTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:192750713:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:192750713:TTTTTTTTTTT:TTTTTTTTTTTTT
Gene:: PCGEM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.425/17 (GENOME_DK)
-=0.449922/1734 (ALSPAC)
-=0.46/276 (NorthernSweden)
-=0.461165/1710 (TWINSUK)
-=0.474891/870 (Korea1K)
-=0.481046/127328 (TOPMED)
T=0.496252/2485 (1000Genomes)
HGVS:: NC_000002.12:g.192750723_192750724del, NC_000002.12:g.192750724del, NC_000002.12:g.192750724dup, NC_000002.12:g.192750723_192750724dup, NC_000002.11:g.193615449_193615450del, NC_000002.11:g.193615450del, NC_000002.11:g.193615450dup, NC_000002.11:g.193615449_193615450dup

Select item 14911191955.

rs1491119195 has merged into rs77333990 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:192754593 (GRCh38)
2:193619319 (GRCh37)
Canonical SPDI:: NC_000002.12:192754590:TTTTTTTTTTTTT:TT,NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PCGEM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000002.12:g.192754593_192754603del, NC_000002.12:g.192754601_192754603del, NC_000002.12:g.192754602_192754603del, NC_000002.12:g.192754603del, NC_000002.12:g.192754603dup, NC_000002.12:g.192754602_192754603dup, NC_000002.12:g.192754601_192754603dup, NC_000002.12:g.192754600_192754603dup, NC_000002.12:g.192754599_192754603dup, NC_000002.12:g.192754593_192754603dup, NC_000002.12:g.192754592_192754603dup, NC_000002.12:g.192754591_192754603dup, NC_000002.11:g.193619319_193619329del, NC_000002.11:g.193619327_193619329del, NC_000002.11:g.193619328_193619329del, NC_000002.11:g.193619329del, NC_000002.11:g.193619329dup, NC_000002.11:g.193619328_193619329dup, NC_000002.11:g.193619327_193619329dup, NC_000002.11:g.193619326_193619329dup, NC_000002.11:g.193619325_193619329dup, NC_000002.11:g.193619319_193619329dup, NC_000002.11:g.193619318_193619329dup, NC_000002.11:g.193619317_193619329dup

Select item 14907403656.

rs1490740365 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:192756791 (GRCh38)
2:193621517 (GRCh37)
Canonical SPDI:: NC_000002.12:192756790:A:C
Gene:: PCGEM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.192756791A>C, NC_000002.11:g.193621517A>C

Select item 14905823627.

rs1490582362 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:192757840 (GRCh38)
2:193622566 (GRCh37)
Canonical SPDI:: NC_000002.12:192757839:C:T
Gene:: PCGEM1 (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_000002.12:g.192757840C>T, NC_000002.11:g.193622566C>T

Select item 14905782918.

rs1490578291 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:192753325 (GRCh38)
2:193618051 (GRCh37)
Canonical SPDI:: NC_000002.12:192753324:C:T
Gene:: PCGEM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000002.12:g.192753325C>T, NC_000002.11:g.193618051C>T

Select item 14904942929.

rs1490494292 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:192770683 (GRCh38)
2:193635409 (GRCh37)
Canonical SPDI:: NC_000002.12:192770682:G:T
Gene:: PCGEM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.192770683G>T, NC_000002.11:g.193635409G>T

Select item 148973376710.

rs1489733767 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:192759002 (GRCh38)
2:193623728 (GRCh37)
Canonical SPDI:: NC_000002.12:192759001:A:G
Gene:: PCGEM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.192759002A>G, NC_000002.11:g.193623728A>G

Select item 148972417911.

rs1489724179 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:192752947 (GRCh38)
2:193617673 (GRCh37)
Canonical SPDI:: NC_000002.12:192752946:A:G
Gene:: PCGEM1 (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.192752947A>G, NC_000002.11:g.193617673A>G

Select item 148956711012.

rs1489567110 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:192755592 (GRCh38)
2:193620318 (GRCh37)
Canonical SPDI:: NC_000002.12:192755591:C:T
Gene:: PCGEM1 (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_000002.12:g.192755592C>T, NC_000002.11:g.193620318C>T

Select item 148949562013.

rs1489495620 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:192761928 (GRCh38)
2:193626654 (GRCh37)
Canonical SPDI:: NC_000002.12:192761927:T:C
Gene:: PCGEM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.192761928T>C, NC_000002.11:g.193626654T>C

Select item 148944642614.

rs1489446426 has merged into rs571798671 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT,TTT [Show Flanks]
Chromosome:: 2:192765399 (GRCh38)
2:193630125 (GRCh37)
Canonical SPDI:: NC_000002.12:192765398:TTTTTTTTTT:TTTTTTTTT,NC_000002.12:192765398:TTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:192765398:TTTTTTTTTT:TTTTTTTTTTTT
Gene:: PCGEM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0.0003/5 (TOMMO)
-=0.01403/14 (GoNL)
HGVS:: NC_000002.12:g.192765408del, NC_000002.12:g.192765408dup, NC_000002.12:g.192765407_192765408dup, NC_000002.11:g.193630134del, NC_000002.11:g.193630134dup, NC_000002.11:g.193630133_193630134dup

Select item 148926191915.

rs1489261919 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:192771667 (GRCh38)
2:193636393 (GRCh37)
Canonical SPDI:: NC_000002.12:192771666:T:C
Gene:: PCGEM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.192771667T>C, NC_000002.11:g.193636393T>C

Select item 148923458816.

rs1489234588 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:192752822 (GRCh38)
2:193617548 (GRCh37)
Canonical SPDI:: NC_000002.12:192752821:A:G
Gene:: PCGEM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.192752822A>G, NC_000002.11:g.193617548A>G

Select item 148911032217.

rs1489110322 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:192762922 (GRCh38)
2:193627648 (GRCh37)
Canonical SPDI:: NC_000002.12:192762921:G:A
Gene:: PCGEM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000034/9 (TOPMED)
HGVS:: NC_000002.12:g.192762922G>A, NC_000002.11:g.193627648G>A

Select item 148907901118.

rs1489079011 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:192760117 (GRCh38)
2:193624843 (GRCh37)
Canonical SPDI:: NC_000002.12:192760116:A:G
Gene:: PCGEM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.192760117A>G, NC_000002.11:g.193624843A>G

Select item 148901358719.

rs1489013587 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:192763879 (GRCh38)
2:193628605 (GRCh37)
Canonical SPDI:: NC_000002.12:192763878:C:T
Gene:: PCGEM1 (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_000002.12:g.192763879C>T, NC_000002.11:g.193628605C>T

Select item 148888441620.

rs1488884416 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:192753131 (GRCh38)
2:193617857 (GRCh37)
Canonical SPDI:: NC_000002.12:192753130:G:A
Gene:: PCGEM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.192753131G>A, NC_000002.11:g.193617857G>A

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