SNP Links for Gene (Select 54036) - SNP

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Select item 14915785041.

rs1491578504 has merged into rs35727086 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT,ATATATAT [Show Flanks]
Chromosome:: 21:35885584 (GRCh38)
21:37257882 (GRCh37)
Canonical SPDI:: NC_000021.9:35885572:TATATATATATAT:TATATATATAT,NC_000021.9:35885572:TATATATATATAT:TATATATATATATAT,NC_000021.9:35885572:TATATATATATAT:TATATATATATATATAT,NC_000021.9:35885572:TATATATATATAT:TATATATATATATATATAT
Gene:: PPP1R2P2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATATAT=0./0 (ALFA)
TA=0.15/6 (GENOME_DK)
TA=0.16509/35 (Vietnamese)
TA=0.225/135 (NorthernSweden)
TA=0.25055/459 (Korea1K)
TA=0.31749/1590 (1000Genomes)
HGVS:: NC_000021.9:g.35885574AT[5], NC_000021.9:g.35885574AT[7], NC_000021.9:g.35885574AT[8], NC_000021.9:g.35885574AT[9], NC_000021.8:g.37257872AT[5], NC_000021.8:g.37257872AT[7], NC_000021.8:g.37257872AT[8], NC_000021.8:g.37257872AT[9], NG_011402.2:g.104127TA[5], NG_011402.2:g.104127TA[7], NG_011402.2:g.104127TA[8], NG_011402.2:g.104127TA[9]

Select item 14906965102.

rs1490696510 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 21:35887536 (GRCh38)
21:37259834 (GRCh37)
Canonical SPDI:: NC_000021.9:35887535:A:C,NC_000021.9:35887535:A:G
Gene:: PPP1R2P2 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.35887536A>C, NC_000021.9:g.35887536A>G, NC_000021.8:g.37259834A>C, NC_000021.8:g.37259834A>G, NG_011402.2:g.102175T>G, NG_011402.2:g.102175T>C, NR_144547.1:n.1092A>C, NR_144547.1:n.1092A>G

Select item 14903777573.

rs1490377757 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 21:35884967 (GRCh38)
21:37257265 (GRCh37)
Canonical SPDI:: NC_000021.9:35884966:A:C
Gene:: PPP1R2P2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000021.9:g.35884967A>C, NC_000021.8:g.37257265A>C, NG_011402.2:g.104744T>G

Select item 14900778854.

rs1490077885 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:35885837 (GRCh38)
21:37258135 (GRCh37)
Canonical SPDI:: NC_000021.9:35885836:C:T
Gene:: PPP1R2P2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000021.9:g.35885837C>T, NC_000021.8:g.37258135C>T, NG_011402.2:g.103874G>A

Select item 14897460525.

rs1489746052 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:35887804 (GRCh38)
21:37260102 (GRCh37)
Canonical SPDI:: NC_000021.9:35887803:A:G
Gene:: PPP1R2P2 (Varview)
Functional Consequence:: non_coding_transcript_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_000021.9:g.35887804A>G, NC_000021.8:g.37260102A>G, NG_011402.2:g.101907T>C, NR_144547.1:n.1360A>G

Select item 14893789036.

rs1489378903 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:35886221 (GRCh38)
21:37258519 (GRCh37)
Canonical SPDI:: NC_000021.9:35886220:T:C
Gene:: PPP1R2P2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000021.9:g.35886221T>C, NC_000021.8:g.37258519T>C, NG_011402.2:g.103490A>G

Select item 14871345677.

rs1487134567 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:35887837 (GRCh38)
21:37260135 (GRCh37)
Canonical SPDI:: NC_000021.9:35887836:G:T
Gene:: PPP1R2P2 (Varview)
Functional Consequence:: 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_000021.9:g.35887837G>T, NC_000021.8:g.37260135G>T, NG_011402.2:g.101874C>A, NR_144547.1:n.1393G>T

Select item 14870817218.

rs1487081721 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:35888909 (GRCh38)
21:37261207 (GRCh37)
Canonical SPDI:: NC_000021.9:35888908:G:T
Gene:: PPP1R2P2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00067/8 (ALFA)
T=0.11739/343 (KOREAN)
HGVS:: NC_000021.9:g.35888909G>T, NC_000021.8:g.37261207G>T, NG_011402.2:g.100802C>A

Select item 14870129219.

rs1487012921 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:35885282 (GRCh38)
21:37257580 (GRCh37)
Canonical SPDI:: NC_000021.9:35885281:G:A
Gene:: PPP1R2P2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000021.9:g.35885282G>A, NC_000021.8:g.37257580G>A, NG_011402.2:g.104429C>T

Select item 148610263610.

rs1486102636 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:35886992 (GRCh38)
21:37259290 (GRCh37)
Canonical SPDI:: NC_000021.9:35886991:C:T
Gene:: PPP1R2P2 (Varview)
Functional Consequence:: non_coding_transcript_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_000021.9:g.35886992C>T, NC_000021.8:g.37259290C>T, NG_011402.2:g.102719G>A, NR_144547.1:n.548C>T

Select item 148535641111.

rs1485356411 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:35885862 (GRCh38)
21:37258160 (GRCh37)
Canonical SPDI:: NC_000021.9:35885861:C:T
Gene:: PPP1R2P2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000214/3 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000034/9 (TOPMED)
HGVS:: NC_000021.9:g.35885862C>T, NC_000021.8:g.37258160C>T, NG_011402.2:g.103849G>A

Select item 148476880312.

rs1484768803 [Homo sapiens]

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

Select item 148303299913.

rs1483032999 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:35887721 (GRCh38)
21:37260019 (GRCh37)
Canonical SPDI:: NC_000021.9:35887720:G:T
Gene:: PPP1R2P2 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.35887721G>T, NC_000021.8:g.37260019G>T, NG_011402.2:g.101990C>A, NR_144547.1:n.1277G>T

Select item 148253479814.

rs1482534798 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:35888469 (GRCh38)
21:37260767 (GRCh37)
Canonical SPDI:: NC_000021.9:35888468:A:G
Gene:: PPP1R2P2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000342/1 (KOREAN)
HGVS:: NC_000021.9:g.35888469A>G, NC_000021.8:g.37260767A>G, NG_011402.2:g.101242T>C

Select item 148123550915.

rs1481235509 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:35887277 (GRCh38)
21:37259575 (GRCh37)
Canonical SPDI:: NC_000021.9:35887276:G:A
Gene:: PPP1R2P2 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00007/1 (ALFA)
HGVS:: NC_000021.9:g.35887277G>A, NC_000021.8:g.37259575G>A, NG_011402.2:g.102434C>T, NR_144547.1:n.833G>A

Select item 147977739016.

rs1479777390 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:35888771 (GRCh38)
21:37261069 (GRCh37)
Canonical SPDI:: NC_000021.9:35888770:T:C
Gene:: PPP1R2P2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_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_000021.9:g.35888771T>C, NC_000021.8:g.37261069T>C, NG_011402.2:g.100940A>G

Select item 147896125117.

rs1478961251 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:35886300 (GRCh38)
21:37258598 (GRCh37)
Canonical SPDI:: NC_000021.9:35886299:T:C
Gene:: PPP1R2P2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000021.9:g.35886300T>C, NC_000021.8:g.37258598T>C, NG_011402.2:g.103411A>G

Select item 147787298718.

rs1477872987 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 21:35884945 (GRCh38)
21:37257243 (GRCh37)
Canonical SPDI:: NC_000021.9:35884944:A:T
Gene:: PPP1R2P2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.35884945A>T, NC_000021.8:g.37257243A>T, NG_011402.2:g.104766T>A

Select item 147766329419.

rs1477663294 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 21:35887487 (GRCh38)
21:37259785 (GRCh37)
Canonical SPDI:: NC_000021.9:35887486:A:C
Gene:: PPP1R2P2 (Varview)
Functional Consequence:: non_coding_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_000021.9:g.35887487A>C, NC_000021.8:g.37259785A>C, NG_011402.2:g.102224T>G, NR_144547.1:n.1043A>C

Select item 147667425720.

rs1476674257 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 21:35886744 (GRCh38)
21:37259042 (GRCh37)
Canonical SPDI:: NC_000021.9:35886743:C:G,NC_000021.9:35886743:C:T
Gene:: PPP1R2P2 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000021.9:g.35886744C>G, NC_000021.9:g.35886744C>T, NC_000021.8:g.37259042C>G, NC_000021.8:g.37259042C>T, NG_011402.2:g.102967G>C, NG_011402.2:g.102967G>A, NR_144547.1:n.300C>G, NR_144547.1:n.300C>T

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