SNP Links for Gene (Select 101927323) - SNP

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Select item 14912294491.

rs1491229449 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 18:9617853 (GRCh38)
18:9617851 (GRCh37)
Canonical SPDI:: NC_000018.10:9617852:CT:
Gene:: PPP4R1 (Varview), PPP4R1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000018.10:g.9617853_9617854del, NC_000018.9:g.9617851_9617852del

Select item 14908356302.

rs1490835630 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 18:9614714 (GRCh38)
18:9614712 (GRCh37)
Canonical SPDI:: NC_000018.10:9614713:G:A,NC_000018.10:9614713:G:C,NC_000018.10:9614713:G:T
Gene:: PPP4R1 (Varview), PPP4R1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000018.10:g.9614714G>A, NC_000018.10:g.9614714G>C, NC_000018.10:g.9614714G>T, NC_000018.9:g.9614712G>A, NC_000018.9:g.9614712G>C, NC_000018.9:g.9614712G>T

Select item 14903193653.

rs1490319365 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 18:9618263 (GRCh38)
18:9618262 (GRCh37)
Canonical SPDI:: NC_000018.10:9618263:T:TT
Gene:: PPP4R1 (Varview), PPP4R1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.9618264dup, NC_000018.9:g.9618262dup

Select item 14902926844.

rs1490292684 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 18:9619079 (GRCh38)
18:9619077 (GRCh37)
Canonical SPDI:: NC_000018.10:9619078:AAA:AA
Gene:: PPP4R1 (Varview), PPP4R1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000018.10:g.9619081del, NC_000018.9:g.9619079del

Select item 14895206085.

rs1489520608 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 18:9616450 (GRCh38)
18:9616448 (GRCh37)
Canonical SPDI:: NC_000018.10:9616449:A:T
Gene:: PPP4R1 (Varview), PPP4R1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.9616450A>T, NC_000018.9:g.9616448A>T, XM_011525775.4:c.-1269T>A, XM_011525779.4:c.-1269T>A, XM_017026105.3:c.-1269T>A, XM_011525776.2:c.-1269T>A, XM_047437973.1:c.-1269T>A, XM_047437976.1:c.-1269T>A, XR_007066261.1:n.750T>A, XM_047437980.1:c.-1269T>A

Select item 14894783796.

rs1489478379 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:9613033 (GRCh38)
18:9613031 (GRCh37)
Canonical SPDI:: NC_000018.10:9613032:C:T
Gene:: PPP4R1 (Varview), PPP4R1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.9613033C>T, NC_000018.9:g.9613031C>T, XM_047437977.1:c.-634G>A

Select item 14893516187.

rs1489351618 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 18:9616798 (GRCh38)
18:9616796 (GRCh37)
Canonical SPDI:: NC_000018.10:9616797:A:C,NC_000018.10:9616797:A:G
Gene:: PPP4R1 (Varview), PPP4R1-AS1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000029/4 (GnomAD)
HGVS:: NC_000018.10:g.9616798A>C, NC_000018.10:g.9616798A>G, NC_000018.9:g.9616796A>C, NC_000018.9:g.9616796A>G, XM_011525775.4:c.-1617T>G, XM_011525775.4:c.-1617T>C, XM_011525779.4:c.-1617T>G, XM_011525779.4:c.-1617T>C, XM_017026105.3:c.-1617T>G, XM_017026105.3:c.-1617T>C, XM_011525776.2:c.-1617T>G, XM_011525776.2:c.-1617T>C, XM_047437973.1:c.-1617T>G, XM_047437973.1:c.-1617T>C, XM_047437976.1:c.-1617T>G, XM_047437976.1:c.-1617T>C, XR_007066261.1:n.402T>G, XR_007066261.1:n.402T>C, XM_047437980.1:c.-1617T>G, XM_047437980.1:c.-1617T>C

Select item 14892990348.

rs1489299034 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:9618891 (GRCh38)
18:9618889 (GRCh37)
Canonical SPDI:: NC_000018.10:9618890:C:T
Gene:: PPP4R1 (Varview), PPP4R1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.9618891C>T, NC_000018.9:g.9618889C>T

Select item 14891030129.

rs1489103012 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:9614162 (GRCh38)
18:9614160 (GRCh37)
Canonical SPDI:: NC_000018.10:9614161:G:A
Gene:: PPP4R1 (Varview), PPP4R1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000022/3 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000018.10:g.9614162G>A, NC_000018.9:g.9614160G>A, XM_047437977.1:c.-1763C>T

Select item 148860201510.

rs1488602015 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 18:9615837 (GRCh38)
18:9615835 (GRCh37)
Canonical SPDI:: NC_000018.10:9615836:A:T
Gene:: PPP4R1 (Varview), PPP4R1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000018.10:g.9615837A>T, NC_000018.9:g.9615835A>T, XM_011525775.4:c.-656T>A, XM_011525779.4:c.-656T>A, XM_017026105.3:c.-656T>A, XM_011525776.2:c.-656T>A, XM_047437973.1:c.-656T>A, XM_047437976.1:c.-656T>A, XR_007066261.1:n.1363T>A, XM_047437980.1:c.-656T>A

Select item 148846184711.

rs1488461847 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 18:9617281 (GRCh38)
18:9617279 (GRCh37)
Canonical SPDI:: NC_000018.10:9617280:A:T
Gene:: PPP4R1 (Varview), PPP4R1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_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_000018.10:g.9617281A>T, NC_000018.9:g.9617279A>T, NR_110773.1:n.342A>T, NR_110774.1:n.206A>T

Select item 148783287712.

rs1487832877 [Homo sapiens]

Variant type:: INS
Alleles:: ->CGCGCATTCTCCTGT,GAGAATGGCA [Show Flanks]
Chromosome:: 18:9618742 (GRCh38)
18:9618741 (GRCh37)
Canonical SPDI:: NC_000018.10:9618742::CGCGCATTCTCCTGT,NC_000018.10:9618742::GAGAATGGCA
Gene:: PPP4R1 (Varview), PPP4R1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: GAGAATGGCA=0.00003/1 (GnomAD)
HGVS:: NC_000018.10:g.9618742_9618743insCGCGCATTCTCCTGT, NC_000018.10:g.9618742_9618743insGAGAATGGCA, NC_000018.9:g.9618740_9618741insCGCGCATTCTCCTGT, NC_000018.9:g.9618740_9618741insGAGAATGGCA

Select item 148779520813.

rs1487795208 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:9614390 (GRCh38)
18:9614388 (GRCh37)
Canonical SPDI:: NC_000018.10:9614389:G:A
Gene:: PPP4R1 (Varview), PPP4R1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.9614390G>A, NC_000018.9:g.9614388G>A

Select item 148751751114.

rs1487517511 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:9613881 (GRCh38)
18:9613879 (GRCh37)
Canonical SPDI:: NC_000018.10:9613880:A:G
Gene:: PPP4R1 (Varview), PPP4R1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.9613881A>G, NC_000018.9:g.9613879A>G, XM_047437977.1:c.-1482T>C

Select item 148726332415.

rs1487263324 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:9616790 (GRCh38)
18:9616788 (GRCh37)
Canonical SPDI:: NC_000018.10:9616789:T:C
Gene:: PPP4R1 (Varview), PPP4R1-AS1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000018.10:g.9616790T>C, NC_000018.9:g.9616788T>C, XM_011525775.4:c.-1609A>G, XM_011525779.4:c.-1609A>G, XM_017026105.3:c.-1609A>G, XM_011525776.2:c.-1609A>G, XM_047437973.1:c.-1609A>G, XM_047437976.1:c.-1609A>G, XR_007066261.1:n.410A>G, XM_047437980.1:c.-1609A>G

Select item 148682770516.

rs1486827705 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:9619334 (GRCh38)
18:9619332 (GRCh37)
Canonical SPDI:: NC_000018.10:9619333:T:C
Gene:: PPP4R1-AS1 (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=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.9619334T>C, NC_000018.9:g.9619332T>C, NR_110773.1:n.486T>C, NR_110774.1:n.350T>C

Select item 148607171517.

rs1486071715 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGCC>- [Show Flanks]
Chromosome:: 18:9614340 (GRCh38)
18:9614338 (GRCh37)
Canonical SPDI:: NC_000018.10:9614333:CCCGCCCGCC:CCCGCC
Gene:: PPP4R1 (Varview), PPP4R1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CCCGCC=0.00007/1 (ALFA)
HGVS:: NC_000018.10:g.9614336CGCC[1], NC_000018.9:g.9614334CGCC[1]

Select item 148605014418.

rs1486050144 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:9614255 (GRCh38)
18:9614253 (GRCh37)
Canonical SPDI:: NC_000018.10:9614254:T:C
Gene:: PPP4R1 (Varview), PPP4R1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
HGVS:: NC_000018.10:g.9614255T>C, NC_000018.9:g.9614253T>C, XM_011525775.4:c.179A>G, XM_011525775.3:c.179A>G, XM_011525775.2:c.179A>G, XM_011525775.1:c.179A>G, XM_011525779.4:c.179A>G, XM_011525779.3:c.179A>G, XM_011525779.2:c.179A>G, XM_011525779.1:c.179A>G, NM_005134.4:c.23A>G, NM_005134.3:c.23A>G, XM_017026105.3:c.179A>G, XM_017026105.2:c.179A>G, XM_017026105.1:c.179A>G, NM_001042388.3:c.23A>G, NM_001042388.2:c.23A>G, XM_011525776.2:c.179A>G, XM_011525776.1:c.179A>G, NR_052003.2:n.98A>G, NR_052003.1:n.146A>G, XM_047437973.1:c.179A>G, XM_047437976.1:c.179A>G, XM_047437977.1:c.-1856A>G, XR_007066261.1:n.2197A>G, NR_168404.1:n.98A>G, XM_047437980.1:c.179A>G, NR_168403.1:n.98A>G, NM_001382562.1:c.-87A>G, XM_047437974.1:c.23A>G, XM_047437975.1:c.23A>G, XM_047437978.1:c.23A>G, XM_047437979.1:c.23A>G, XP_011524077.1:p.Gln60Arg, XP_011524081.1:p.Gln60Arg, NP_005125.1:p.Gln8Arg, XP_016881594.1:p.Gln60Arg, NP_001035847.1:p.Gln8Arg, XP_011524078.1:p.Gln60Arg, XP_047293929.1:p.Gln60Arg, XP_047293932.1:p.Gln60Arg, XP_047293936.1:p.Gln60Arg, XP_047293930.1:p.Gln8Arg, XP_047293931.1:p.Gln8Arg, XP_047293934.1:p.Gln8Arg, XP_047293935.1:p.Gln8Arg

Select item 148595522819.

rs1485955228 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:9614946 (GRCh38)
18:9614944 (GRCh37)
Canonical SPDI:: NC_000018.10:9614945:G:A
Gene:: PPP4R1 (Varview), PPP4R1-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.9614946G>A, NC_000018.9:g.9614944G>A, NR_110773.1:n.140G>A

Select item 148509457920.

rs1485094579 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCG [Show Flanks]
Chromosome:: 18:9614520 (GRCh38)
18:9614519 (GRCh37)
Canonical SPDI:: NC_000018.10:9614520:GCCG:GCCGCCG
Gene:: PPP4R1 (Varview), PPP4R1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCCGCCG=0./0 (ALFA)
GCC=0.000008/1 (GnomAD)
GCC=0.000008/2 (TOPMED)
GCC=0.000156/1 (1000Genomes)
HGVS:: NC_000018.10:g.9614522_9614524dup, NC_000018.9:g.9614520_9614522dup, NM_005134.4:c.-39_-37dup, NM_005134.3:c.-39_-37dup, NM_001042388.3:c.-39_-37dup, NM_001042388.2:c.-39_-37dup, NR_052003.2:n.37_39dup, NR_052003.1:n.85_87dup, NR_168404.1:n.37_39dup, NR_168403.1:n.37_39dup, NM_001382562.1:c.-148_-146dup, XM_047437974.1:c.-39_-37dup, XM_047437975.1:c.-39_-37dup, XM_047437978.1:c.-39_-37dup, XM_047437979.1:c.-39_-37dup

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