SNP Links for Gene (Select 5331) - SNP

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Select item 14913647791.

rs1491364779 has merged into rs34969821 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:64258162 (GRCh38)
11:64025634 (GRCh37)
Canonical SPDI:: NC_000011.10:64258153:AAAAAAAAAAAAAAAA:AAAAAAAA,NC_000011.10:64258153:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:64258153:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:64258153:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:64258153:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:64258153:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:64258153:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:64258153:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:64258153:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:64258153:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:64258153:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: PLCB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.120968/60 (NorthernSweden)
-=0.164245/633 (ALSPAC)
-=0.168554/625 (TWINSUK)
HGVS:: NC_000011.10:g.64258162_64258169del, NC_000011.10:g.64258164_64258169del, NC_000011.10:g.64258165_64258169del, NC_000011.10:g.64258166_64258169del, NC_000011.10:g.64258167_64258169del, NC_000011.10:g.64258168_64258169del, NC_000011.10:g.64258169del, NC_000011.10:g.64258169dup, NC_000011.10:g.64258168_64258169dup, NC_000011.10:g.64258167_64258169dup, NC_000011.10:g.64258166_64258169dup, NC_000011.9:g.64025634_64025641del, NC_000011.9:g.64025636_64025641del, NC_000011.9:g.64025637_64025641del, NC_000011.9:g.64025638_64025641del, NC_000011.9:g.64025639_64025641del, NC_000011.9:g.64025640_64025641del, NC_000011.9:g.64025641del, NC_000011.9:g.64025641dup, NC_000011.9:g.64025640_64025641dup, NC_000011.9:g.64025639_64025641dup, NC_000011.9:g.64025638_64025641dup

Select item 14913631822.

rs1491363182 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:64258153 (GRCh38)
11:64025625 (GRCh37)
Canonical SPDI:: NC_000011.10:64258152:CA:
Gene:: PLCB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000011.10:g.64258153_64258154del, NC_000011.9:g.64025625_64025626del

Select item 14911699723.

rs1491169972 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->CTTTTTTTTTTTTTTTTTTT
Chromosome:: no mapping
Canonical SPDI:

Select item 14910759894.

rs1491075989 has merged into rs10689916 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:64260782 (GRCh38)
11:64028254 (GRCh37)
Canonical SPDI:: NC_000011.10:64260772:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000011.10:64260772:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:64260772:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:64260772:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:64260772:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:64260772:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:64260772:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:64260772:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:64260772:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:64260772:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:64260772:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:64260772:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:64260772:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:64260772:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:64260772:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:64260772:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:64260772:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:64260772:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:64260772:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:64260772:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:64260772:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:64260772:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PLCB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.64260782_64260794del, NC_000011.10:g.64260784_64260794del, NC_000011.10:g.64260785_64260794del, NC_000011.10:g.64260786_64260794del, NC_000011.10:g.64260787_64260794del, NC_000011.10:g.64260789_64260794del, NC_000011.10:g.64260790_64260794del, NC_000011.10:g.64260791_64260794del, NC_000011.10:g.64260792_64260794del, NC_000011.10:g.64260793_64260794del, NC_000011.10:g.64260794del, NC_000011.10:g.64260794dup, NC_000011.10:g.64260793_64260794dup, NC_000011.10:g.64260792_64260794dup, NC_000011.10:g.64260791_64260794dup, NC_000011.10:g.64260790_64260794dup, NC_000011.10:g.64260789_64260794dup, NC_000011.10:g.64260788_64260794dup, NC_000011.10:g.64260787_64260794dup, NC_000011.10:g.64260786_64260794dup, NC_000011.10:g.64260784_64260794dup, NC_000011.10:g.64260794_64260795insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.64028254_64028266del, NC_000011.9:g.64028256_64028266del, NC_000011.9:g.64028257_64028266del, NC_000011.9:g.64028258_64028266del, NC_000011.9:g.64028259_64028266del, NC_000011.9:g.64028261_64028266del, NC_000011.9:g.64028262_64028266del, NC_000011.9:g.64028263_64028266del, NC_000011.9:g.64028264_64028266del, NC_000011.9:g.64028265_64028266del, NC_000011.9:g.64028266del, NC_000011.9:g.64028266dup, NC_000011.9:g.64028265_64028266dup, NC_000011.9:g.64028264_64028266dup, NC_000011.9:g.64028263_64028266dup, NC_000011.9:g.64028262_64028266dup, NC_000011.9:g.64028261_64028266dup, NC_000011.9:g.64028260_64028266dup, NC_000011.9:g.64028259_64028266dup, NC_000011.9:g.64028258_64028266dup, NC_000011.9:g.64028256_64028266dup, NC_000011.9:g.64028266_64028267insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14909791525.

rs1490979152 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:64258078 (GRCh38)
11:64025550 (GRCh37)
Canonical SPDI:: NC_000011.10:64258077:A:C,NC_000011.10:64258077:A:G
Gene:: PLCB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.64258078A>C, NC_000011.10:g.64258078A>G, NC_000011.9:g.64025550A>C, NC_000011.9:g.64025550A>G

Select item 14909575326.

rs1490957532 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:64256556 (GRCh38)
11:64024028 (GRCh37)
Canonical SPDI:: NC_000011.10:64256555:G:C
Gene:: PLCB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.64256556G>C, NC_000011.9:g.64024028G>C

Select item 14906577307.

rs1490657730 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:64250453 (GRCh38)
11:64017925 (GRCh37)
Canonical SPDI:: NC_000011.10:64250452:G:A
Gene:: PLCB3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000011.10:g.64250453G>A, NC_000011.9:g.64017925G>A

Select item 14904698668.

rs1490469866 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:64269671 (GRCh38)
11:64037143 (GRCh37)
Canonical SPDI:: NC_000011.10:64269670:C:T
Gene:: BAD (Varview), PLCB3 (Varview), GPR137 (Varview)
Functional Consequence:: upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.64269671C>T, NC_000011.9:g.64037143C>T

Select item 14904625479.

rs1490462547 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:64267344 (GRCh38)
11:64034816 (GRCh37)
Canonical SPDI:: NC_000011.10:64267343:C:T
Gene:: PLCB3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.64267344C>T, NC_000011.9:g.64034816C>T

Select item 149041722010.

rs1490417220 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:64267648 (GRCh38)
11:64035120 (GRCh37)
Canonical SPDI:: NC_000011.10:64267647:C:T
Gene:: PLCB3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00042/5 (ALFA)
T=0.00039/11 (TOMMO)
HGVS:: NC_000011.10:g.64267648C>T, NC_000011.9:g.64035120C>T, NM_000932.5:c.*92C>T, NM_000932.4:c.*92C>T, NM_000932.3:c.*92C>T, NM_000932.2:c.*92C>T, NM_001184883.2:c.*92C>T, NM_001184883.1:c.*92C>T

Select item 149040042011.

rs1490400420 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:64256943 (GRCh38)
11:64024415 (GRCh37)
Canonical SPDI:: NC_000011.10:64256942:G:C
Gene:: PLCB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.64256943G>C, NC_000011.9:g.64024415G>C

Select item 148987327212.

rs1489873272 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:64265725 (GRCh38)
11:64033197 (GRCh37)
Canonical SPDI:: NC_000011.10:64265724:A:T
Gene:: PLCB3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.64265725A>T, NC_000011.9:g.64033197A>T

Select item 148984045513.

rs1489840455 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:64250912 (GRCh38)
11:64018384 (GRCh37)
Canonical SPDI:: NC_000011.10:64250911:A:G
Gene:: PLCB3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000011.10:g.64250912A>G, NC_000011.9:g.64018384A>G

Select item 148977257114.

rs1489772571 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:64249867 (GRCh38)
11:64017339 (GRCh37)
Canonical SPDI:: NC_000011.10:64249866:C:A
Gene:: PLCB3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.64249867C>A, NC_000011.9:g.64017339C>A

Select item 148952574315.

rs1489525743 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:64254464 (GRCh38)
11:64021936 (GRCh37)
Canonical SPDI:: NC_000011.10:64254463:T:G
Gene:: PLCB3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000056/2 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.64254464T>G, NC_000011.9:g.64021936T>G, NM_000932.5:c.149T>G, NM_000932.4:c.149T>G, NM_000932.3:c.149T>G, NM_000932.2:c.149T>G, NM_001316314.3:c.149T>G, NM_001316314.2:c.149T>G, NM_001316314.1:c.149T>G, XM_017017925.3:c.149T>G, XM_017017925.2:c.149T>G, XM_017017925.1:c.149T>G, NP_000923.1:p.Phe50Cys, NP_001303243.1:p.Phe50Cys, XP_016873414.1:p.Phe50Cys

Select item 148936902616.

rs1489369026 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:64258311 (GRCh38)
11:64025783 (GRCh37)
Canonical SPDI:: NC_000011.10:64258310:G:A
Gene:: PLCB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.64258311G>A, NC_000011.9:g.64025783G>A

Select item 148899683617.

rs1488996836 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:64269578 (GRCh38)
11:64037050 (GRCh37)
Canonical SPDI:: NC_000011.10:64269577:G:C
Gene:: BAD (Varview), PLCB3 (Varview), GPR137 (Varview)
Functional Consequence:: upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.64269578G>C, NC_000011.9:g.64037050G>C

Select item 148898119618.

rs1488981196 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:64254641 (GRCh38)
11:64022113 (GRCh37)
Canonical SPDI:: NC_000011.10:64254640:G:T
Gene:: PLCB3 (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_000011.10:g.64254641G>T, NC_000011.9:g.64022113G>T

Select item 148870661819.

rs1488706618 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 11:64262930 (GRCh38)
11:64030402 (GRCh37)
Canonical SPDI:: NC_000011.10:64262929:T:C,NC_000011.10:64262929:T:G
Gene:: PLCB3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.002183/4 (Korea1K)
HGVS:: NC_000011.10:g.64262930T>C, NC_000011.10:g.64262930T>G, NC_000011.9:g.64030402T>C, NC_000011.9:g.64030402T>G

Select item 148862079020.

rs1488620790 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 11:64254538 (GRCh38)
11:64022010 (GRCh37)
Canonical SPDI:: NC_000011.10:64254537:T:
Gene:: PLCB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.64254538del, NC_000011.9:g.64022010del

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