SNP Links for Gene (Select 692157) - SNP

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Select item 14913794731.

rs1491379473 has merged into rs61297300 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 1:212350987 (GRCh38)
1:212524329 (GRCh37)
Canonical SPDI:: NC_000001.11:212350976:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:212350976:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:212350976:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:212350976:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:212350976:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:212350976:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:212350976:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:212350976:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:212350976:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:212350976:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: PPP2R5A (Varview), SNORA16B (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AA=0.1965/984 (1000Genomes)
AA=0.25/10 (GENOME_DK)
HGVS:: NC_000001.11:g.212350987_212350994del, NC_000001.11:g.212350988_212350994del, NC_000001.11:g.212350989_212350994del, NC_000001.11:g.212350990_212350994del, NC_000001.11:g.212350991_212350994del, NC_000001.11:g.212350992_212350994del, NC_000001.11:g.212350993_212350994del, NC_000001.11:g.212350994del, NC_000001.11:g.212350994dup, NC_000001.11:g.212350993_212350994dup, NC_000001.10:g.212524329_212524336del, NC_000001.10:g.212524330_212524336del, NC_000001.10:g.212524331_212524336del, NC_000001.10:g.212524332_212524336del, NC_000001.10:g.212524333_212524336del, NC_000001.10:g.212524334_212524336del, NC_000001.10:g.212524335_212524336del, NC_000001.10:g.212524336del, NC_000001.10:g.212524336dup, NC_000001.10:g.212524335_212524336dup

Select item 14912070142.

rs1491207014 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 1:212350976 (GRCh38)
1:212524318 (GRCh37)
Canonical SPDI:: NC_000001.11:212350975:TA:
Gene:: PPP2R5A (Varview), SNORA16B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000001.11:g.212350976_212350977del, NC_000001.10:g.212524318_212524319del

Select item 14891803263.

rs1489180326 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:212353337 (GRCh38)
1:212526679 (GRCh37)
Canonical SPDI:: NC_000001.11:212353336:C:A
Gene:: PPP2R5A (Varview), SNORA16B (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.212353337C>A, NC_000001.10:g.212526679C>A

Select item 14888055394.

rs1488805539 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTT>- [Show Flanks]
Chromosome:: 1:212351966 (GRCh38)
1:212525308 (GRCh37)
Canonical SPDI:: NC_000001.11:212351962:TTTCTTT:TTT
Gene:: PPP2R5A (Varview), SNORA16B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.212351966_212351969del, NC_000001.10:g.212525308_212525311del

Select item 14886725085.

rs1488672508 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTTGGC>- [Show Flanks]
Chromosome:: 1:212353194 (GRCh38)
1:212526536 (GRCh37)
Canonical SPDI:: NC_000001.11:212353189:TGGCTGTTGGC:TGGC
Gene:: PPP2R5A (Varview), SNORA16B (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: TGGC=0./0 (ALFA)
HGVS:: NC_000001.11:g.212353194_212353200del, NC_000001.10:g.212526536_212526542del

Select item 14883218556.

rs1488321855 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:212350874 (GRCh38)
1:212524216 (GRCh37)
Canonical SPDI:: NC_000001.11:212350873:A:G
Gene:: PPP2R5A (Varview), SNORA16B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.212350874A>G, NC_000001.10:g.212524216A>G

Select item 14882533727.

rs1488253372 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:212351312 (GRCh38)
1:212524654 (GRCh37)
Canonical SPDI:: NC_000001.11:212351311:A:G
Gene:: PPP2R5A (Varview), SNORA16B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.212351312A>G, NC_000001.10:g.212524654A>G

Select item 14868502358.

rs1486850235 has merged into rs906177451 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA [Show Flanks]
Chromosome:: 1:212351119 (GRCh38)
1:212524461 (GRCh37)
Canonical SPDI:: NC_000001.11:212351114:AAAAAAA:AAAA,NC_000001.11:212351114:AAAAAAA:AAAAA,NC_000001.11:212351114:AAAAAAA:AAAAAA,NC_000001.11:212351114:AAAAAAA:AAAAAAAA
Gene:: PPP2R5A (Varview), SNORA16B (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.212351119_212351121del, NC_000001.11:g.212351120_212351121del, NC_000001.11:g.212351121del, NC_000001.11:g.212351121dup, NC_000001.10:g.212524461_212524463del, NC_000001.10:g.212524462_212524463del, NC_000001.10:g.212524463del, NC_000001.10:g.212524463dup

Select item 14867787059.

rs1486778705 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:212351496 (GRCh38)
1:212524838 (GRCh37)
Canonical SPDI:: NC_000001.11:212351495:C:A,NC_000001.11:212351495:C:T
Gene:: PPP2R5A (Varview), SNORA16B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.212351496C>A, NC_000001.11:g.212351496C>T, NC_000001.10:g.212524838C>A, NC_000001.10:g.212524838C>T

Select item 148456328710.

rs1484563287 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:212351578 (GRCh38)
1:212524920 (GRCh37)
Canonical SPDI:: NC_000001.11:212351577:A:T
Gene:: PPP2R5A (Varview), SNORA16B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.212351578A>T, NC_000001.10:g.212524920A>T

Select item 148412854811.

rs1484128548 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:212350839 (GRCh38)
1:212524181 (GRCh37)
Canonical SPDI:: NC_000001.11:212350838:A:G
Gene:: PPP2R5A (Varview), SNORA16B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000001.11:g.212350839A>G, NC_000001.10:g.212524181A>G

Select item 148197402912.

rs1481974029 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:212353357 (GRCh38)
1:212526699 (GRCh37)
Canonical SPDI:: NC_000001.11:212353356:C:A
Gene:: PPP2R5A (Varview), SNORA16B (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_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_000001.11:g.212353357C>A, NC_000001.10:g.212526699C>A

Select item 148113130413.

rs1481131304 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:212352988 (GRCh38)
1:212526331 (GRCh37)
Canonical SPDI:: NC_000001.11:212352988:TT:TTT
Gene:: PPP2R5A (Varview), SNORA16B (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000013/3 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.212352990dup, NC_000001.10:g.212526332dup

Select item 147873424614.

rs1478734246 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGA>- [Show Flanks]
Chromosome:: 1:212352410 (GRCh38)
1:212525752 (GRCh37)
Canonical SPDI:: NC_000001.11:212352405:ATGATGA:ATGA
Gene:: PPP2R5A (Varview), SNORA16B (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATGA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.212352407TGA[1], NC_000001.10:g.212525749TGA[1]

Select item 147873351515.

rs1478733515 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:212351850 (GRCh38)
1:212525192 (GRCh37)
Canonical SPDI:: NC_000001.11:212351849:G:A
Gene:: PPP2R5A (Varview), SNORA16B (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.212351850G>A, NC_000001.10:g.212525192G>A

Select item 147873215516.

rs1478732155 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:212352719 (GRCh38)
1:212526061 (GRCh37)
Canonical SPDI:: NC_000001.11:212352718:G:A,NC_000001.11:212352718:G:C
Gene:: PPP2R5A (Varview), SNORA16B (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_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)
C=0.000312/2 (1000Genomes)
HGVS:: NC_000001.11:g.212352719G>A, NC_000001.11:g.212352719G>C, NC_000001.10:g.212526061G>A, NC_000001.10:g.212526061G>C

Select item 147840779317.

rs1478407793 has merged into rs1421078550 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATTATTTTATTTT>-,ATTATTTTATTTTATTATTTTATTTT [Show Flanks]
Chromosome:: 1:212351995 (GRCh38)
1:212525337 (GRCh37)
Canonical SPDI:: NC_000001.11:212351983:TATTTTATTTTATTATTTTATTTT:TATTTTATTTT,NC_000001.11:212351983:TATTTTATTTTATTATTTTATTTT:TATTTTATTTTATTATTTTATTTTATTATTTTATTTT
Gene:: PPP2R5A (Varview), SNORA16B (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATTTTATTTTATTATTTTATTTTATTATTTTATTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.212351995_212352007del, NC_000001.11:g.212351995_212352007dup, NC_000001.10:g.212525337_212525349del, NC_000001.10:g.212525337_212525349dup

Select item 147822849118.

rs1478228491 [Homo sapiens]

Variant type:: DEL
Alleles:: TTTT>- [Show Flanks]
Chromosome:: 1:212351991 (GRCh38)
1:212525333 (GRCh37)
Canonical SPDI:: NC_000001.11:212351990:TTTT:
Gene:: PPP2R5A (Varview), SNORA16B (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.000224/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.212351991_212351994del, NC_000001.10:g.212525333_212525336del

Select item 147414185419.

rs1474141854 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:212351958 (GRCh38)
1:212525300 (GRCh37)
Canonical SPDI:: NC_000001.11:212351957:T:A
Gene:: PPP2R5A (Varview), SNORA16B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.212351958T>A, NC_000001.10:g.212525300T>A

Select item 147068003120.

rs1470680031 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 1:212352925 (GRCh38)
1:212526267 (GRCh37)
Canonical SPDI:: NC_000001.11:212352924:C:A,NC_000001.11:212352924:C:G,NC_000001.11:212352924:C:T
Gene:: PPP2R5A (Varview), SNORA16B (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.212352925C>A, NC_000001.11:g.212352925C>G, NC_000001.11:g.212352925C>T, NC_000001.10:g.212526267C>A, NC_000001.10:g.212526267C>G, NC_000001.10:g.212526267C>T, NR_004389.1:n.108C>A, NR_004389.1:n.108C>G, NR_004389.1:n.108C>T