SNP Links for Gene (Select 219348) - SNP

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Select item 14915529811.

rs1491552981 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 10:80134281 (GRCh38)
10:81894038 (GRCh37)
Canonical SPDI:: NC_000010.11:80134281:G:GG
Gene:: PLAC9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000212/29 (GnomAD)
HGVS:: NC_000010.11:g.80134282dup, NC_000010.10:g.81894038dup

Select item 14915329052.

rs1491532905 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 10:80134265 (GRCh38)
10:81894021 (GRCh37)
Canonical SPDI:: NC_000010.11:80134263:TCT:T
Gene:: PLAC9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.80134265_80134266del, NC_000010.10:g.81894021_81894022del

Select item 14915013363.

rs1491501336 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 10:80134266 (GRCh38)
10:81894023 (GRCh37)
Canonical SPDI:: NC_000010.11:80134266:TT:TTCTT
Gene:: PLAC9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTCTT=0./0 (ALFA)
TTC=0.00002/2 (GnomAD)
HGVS:: NC_000010.11:g.80134268_80134269insCTT, NC_000010.10:g.81894024_81894025insCTT

Select item 14914536314.

rs1491453631 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 10:80134264 (GRCh38)
10:81894021 (GRCh37)
Canonical SPDI:: NC_000010.11:80134264:C:CC
Gene:: PLAC9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000008/1 (GnomAD)
HGVS:: NC_000010.11:g.80134265dup, NC_000010.10:g.81894021dup

Select item 14914443365.

rs1491444336 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:80129699 (GRCh38)
10:81889455 (GRCh37)
Canonical SPDI:: NC_000010.11:80129698:CA:
Gene:: PLAC9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.80129699_80129700del, NC_000010.10:g.81889455_81889456del

Select item 14914070066.

rs1491407006 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 10:80129722 (GRCh38)
10:81889479 (GRCh37)
Canonical SPDI:: NC_000010.11:80129722::G
Gene:: PLAC9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000253/3 (ALFA)
G=0.00008/8 (GnomAD)
HGVS:: NC_000010.11:g.80129722_80129723insG, NC_000010.10:g.81889478_81889479insG

Select item 14913287387.

rs1491328738 has merged into rs1366410046 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAA [Show Flanks]
Chromosome:: 10:80129704 (GRCh38)
10:81889460 (GRCh37)
Canonical SPDI:: NC_000010.11:80129699:AAAAAA:AAAA,NC_000010.11:80129699:AAAAAA:AAAAAAA
Gene:: PLAC9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0.00617/99 (ALFA)
-=0.000004/1 (TOPMED)
A=0.003509/2 (NorthernSweden)
HGVS:: NC_000010.11:g.80129704_80129705del, NC_000010.11:g.80129705dup, NC_000010.10:g.81889460_81889461del, NC_000010.10:g.81889461dup

Select item 14911781688.

rs1491178168 has merged into rs559784722 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TT,TTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:80134272 (GRCh38)
10:81894028 (GRCh37)
Canonical SPDI:: NC_000010.11:80134265:TTTTTTTTTTTTTTTT:TTTTTT,NC_000010.11:80134265:TTTTTTTTTTTTTTTT:TTTTTTTT,NC_000010.11:80134265:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000010.11:80134265:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:80134265:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:80134265:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:80134265:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:80134265:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:80134265:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:80134265:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:80134265:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:80134265:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80134265:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80134265:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80134265:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80134265:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PLAC9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.046656/173 (TWINSUK)
-=0.052413/202 (ALSPAC)
T=0.325/13 (GENOME_DK)
HGVS:: NC_000010.11:g.80134272_80134281del, NC_000010.11:g.80134274_80134281del, NC_000010.11:g.80134275_80134281del, NC_000010.11:g.80134278_80134281del, NC_000010.11:g.80134279_80134281del, NC_000010.11:g.80134280_80134281del, NC_000010.11:g.80134281del, NC_000010.11:g.80134281dup, NC_000010.11:g.80134280_80134281dup, NC_000010.11:g.80134279_80134281dup, NC_000010.11:g.80134278_80134281dup, NC_000010.11:g.80134277_80134281dup, NC_000010.11:g.80134276_80134281dup, NC_000010.11:g.80134274_80134281dup, NC_000010.11:g.80134273_80134281dup, NC_000010.11:g.80134269_80134281dup, NC_000010.10:g.81894028_81894037del, NC_000010.10:g.81894030_81894037del, NC_000010.10:g.81894031_81894037del, NC_000010.10:g.81894034_81894037del, NC_000010.10:g.81894035_81894037del, NC_000010.10:g.81894036_81894037del, NC_000010.10:g.81894037del, NC_000010.10:g.81894037dup, NC_000010.10:g.81894036_81894037dup, NC_000010.10:g.81894035_81894037dup, NC_000010.10:g.81894034_81894037dup, NC_000010.10:g.81894033_81894037dup, NC_000010.10:g.81894032_81894037dup, NC_000010.10:g.81894030_81894037dup, NC_000010.10:g.81894029_81894037dup, NC_000010.10:g.81894025_81894037dup

Select item 14911305819.

rs1491130581 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 10:80134281 (GRCh38)
10:81894037 (GRCh37)
Canonical SPDI:: NC_000010.11:80134280:TG:
Gene:: PLAC9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.80134281_80134282del, NC_000010.10:g.81894037_81894038del

Select item 149106202910.

rs1491062029 has merged into rs139336508 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:80135333 (GRCh38)
10:81895089 (GRCh37)
Canonical SPDI:: NC_000010.11:80135321:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:80135321:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:80135321:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:80135321:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:80135321:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:80135321:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:80135321:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:80135321:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:80135321:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:80135321:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:80135321:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80135321:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80135321:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80135321:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80135321:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80135321:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80135321:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80135321:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PLAC9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000010.11:g.80135333_80135343del, NC_000010.11:g.80135334_80135343del, NC_000010.11:g.80135335_80135343del, NC_000010.11:g.80135336_80135343del, NC_000010.11:g.80135337_80135343del, NC_000010.11:g.80135338_80135343del, NC_000010.11:g.80135339_80135343del, NC_000010.11:g.80135340_80135343del, NC_000010.11:g.80135341_80135343del, NC_000010.11:g.80135342_80135343del, NC_000010.11:g.80135343del, NC_000010.11:g.80135343dup, NC_000010.11:g.80135342_80135343dup, NC_000010.11:g.80135341_80135343dup, NC_000010.11:g.80135340_80135343dup, NC_000010.11:g.80135339_80135343dup, NC_000010.11:g.80135338_80135343dup, NC_000010.11:g.80135337_80135343dup, NC_000010.10:g.81895089_81895099del, NC_000010.10:g.81895090_81895099del, NC_000010.10:g.81895091_81895099del, NC_000010.10:g.81895092_81895099del, NC_000010.10:g.81895093_81895099del, NC_000010.10:g.81895094_81895099del, NC_000010.10:g.81895095_81895099del, NC_000010.10:g.81895096_81895099del, NC_000010.10:g.81895097_81895099del, NC_000010.10:g.81895098_81895099del, NC_000010.10:g.81895099del, NC_000010.10:g.81895099dup, NC_000010.10:g.81895098_81895099dup, NC_000010.10:g.81895097_81895099dup, NC_000010.10:g.81895096_81895099dup, NC_000010.10:g.81895095_81895099dup, NC_000010.10:g.81895094_81895099dup, NC_000010.10:g.81895093_81895099dup

Select item 149087505611.

rs1490875056 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:80131334 (GRCh38)
10:81891090 (GRCh37)
Canonical SPDI:: NC_000010.11:80131333:T:C
Gene:: PLAC9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000010.11:g.80131334T>C, NC_000010.10:g.81891090T>C

Select item 149077758312.

rs1490777583 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:80137152 (GRCh38)
10:81896908 (GRCh37)
Canonical SPDI:: NC_000010.11:80137151:G:A,NC_000010.11:80137151:G:C
Gene:: PLAC9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000010.11:g.80137152G>A, NC_000010.11:g.80137152G>C, NC_000010.10:g.81896908G>A, NC_000010.10:g.81896908G>C

Select item 149049300213.

rs1490493002 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 10:80144532 (GRCh38)
10:81904288 (GRCh37)
Canonical SPDI:: NC_000010.11:80144531:CCC:CC
Gene:: PLAC9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000010.11:g.80144534del, NC_000010.10:g.81904290del

Select item 149044950314.

rs1490449503 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:80140108 (GRCh38)
10:81899864 (GRCh37)
Canonical SPDI:: NC_000010.11:80140107:C:G
Gene:: PLAC9 (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_000010.11:g.80140108C>G, NC_000010.10:g.81899864C>G

Select item 149043724915.

rs1490437249 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:80145329 (GRCh38)
10:81905085 (GRCh37)
Canonical SPDI:: NC_000010.11:80145328:C:T
Gene:: PLAC9 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_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_000010.11:g.80145329C>T, NC_000010.10:g.81905085C>T, NM_001012973.3:c.*419C>T, NR_138551.2:n.820C>T, NM_001331125.2:c.*328C>T

Select item 149035803116.

rs1490358031 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 10:80130847 (GRCh38)
10:81890603 (GRCh37)
Canonical SPDI:: NC_000010.11:80130846:A:C,NC_000010.11:80130846:A:G,NC_000010.11:80130846:A:T
Gene:: PLAC9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
A=0.5/3 (SGDP_PRJ)
HGVS:: NC_000010.11:g.80130847A>C, NC_000010.11:g.80130847A>G, NC_000010.11:g.80130847A>T, NC_000010.10:g.81890603A>C, NC_000010.10:g.81890603A>G, NC_000010.10:g.81890603A>T

Select item 149025918917.

rs1490259189 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:80137161 (GRCh38)
10:81896917 (GRCh37)
Canonical SPDI:: NC_000010.11:80137160:G:T
Gene:: PLAC9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000010.11:g.80137161G>T, NC_000010.10:g.81896917G>T

Select item 149020898918.

rs1490208989 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:80144222 (GRCh38)
10:81903978 (GRCh37)
Canonical SPDI:: NC_000010.11:80144221:G:A
Gene:: PLAC9 (Varview)
Functional Consequence:: splice_acceptor_variant,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_000010.11:g.80144222G>A, NC_000010.10:g.81903978G>A

Select item 149016383419.

rs1490163834 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:80143670 (GRCh38)
10:81903426 (GRCh37)
Canonical SPDI:: NC_000010.11:80143669:T:C
Gene:: PLAC9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.80143670T>C, NC_000010.10:g.81903426T>C

Select item 149010802620.

rs1490108026 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:80144612 (GRCh38)
10:81904368 (GRCh37)
Canonical SPDI:: NC_000010.11:80144611:A:G
Gene:: PLAC9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000022/3 (GnomAD)
HGVS:: NC_000010.11:g.80144612A>G, NC_000010.10:g.81904368A>G

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