SNP Links for Gene (Select 84988) - SNP

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Select item 14914906031.

rs1491490603 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 8:144480511 (GRCh38)
8:145705895 (GRCh37)
Canonical SPDI:: NC_000008.11:144480511:G:GG
Gene:: PPP1R16A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.144480512dup, NC_000008.10:g.145705895dup, NG_030003.1:g.824dup

Select item 14914585462.

rs1491458546 [Homo sapiens]

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

Select item 14912689073.

rs1491268907 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 8:144496743 (GRCh38)
8:145722127 (GRCh37)
Canonical SPDI:: NC_000008.11:144496743:GGGG:GGGGG
Gene:: PPP1R16A (Varview), LOC101928953 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GGGGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.144496747dup, NC_000008.10:g.145722130dup, NM_032902.7:c.-448dup, NM_032902.6:c.-448dup, NM_032902.5:c.-448dup, NM_001329442.2:c.-448dup, NM_001329442.1:c.-448dup, NM_001329444.2:c.-448dup, NM_001329444.1:c.-448dup, NM_001329445.2:c.-448dup, NM_001329445.1:c.-448dup, NM_001329443.2:c.-448dup, NM_001329443.1:c.-448dup, XR_007061146.1:n.2525dup, XR_007061147.1:n.1935dup, XR_007061148.1:n.1787dup, XR_007061149.1:n.1370dup, XM_047422337.1:c.-448dup, XM_047422338.1:c.-448dup, XM_047422334.1:c.-448dup, XM_047422335.1:c.-448dup, XM_047422336.1:c.-448dup, XM_047422332.1:c.-448dup, XM_047422331.1:c.-448dup, XM_047422341.1:c.-521dup, XM_047422342.1:c.-521dup, XM_047422345.1:c.-448dup, XM_047422340.1:c.-521dup, XM_047422343.1:c.-448dup, XM_047422350.1:c.-521dup, XM_047422339.1:c.-448dup, XM_047422351.1:c.-521dup, XM_047422349.1:c.-521dup, XM_047422348.1:c.-521dup, XM_047422347.1:c.-521dup, XM_047422346.1:c.-448dup, XM_047422352.1:c.-521dup

Select item 14911573934.

rs1491157393 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 8:144480513 (GRCh38)
8:145705896 (GRCh37)
Canonical SPDI:: NC_000008.11:144480510:AGAG:AG
Gene:: PPP1R16A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0.000368/6 (ALFA)
-=0.000174/24 (GnomAD)
-=0.000224/1 (Estonian)
HGVS:: NC_000008.11:g.144480511AG[1], NC_000008.10:g.145705894AG[1], NG_030003.1:g.822CT[1]

Select item 14911335275.

rs1491133527 has merged into rs749667274 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,A,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:144485223 (GRCh38)
8:145710606 (GRCh37)
Canonical SPDI:: NC_000008.11:144485212:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:144485212:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:144485212:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:144485212:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:144485212:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:144485212:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:144485212:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:144485212:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:144485212:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:144485212:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144485212:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144485212:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144485212:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144485212:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144485212:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144485212:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144485212:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144485212:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144485212:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144485212:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144485212:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144485212:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144485212:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144485212:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144485212:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:144485212:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PPP1R16A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000008.11:g.144485223_144485240del, NC_000008.11:g.144485224_144485240del, NC_000008.11:g.144485226_144485240del, NC_000008.11:g.144485228_144485240del, NC_000008.11:g.144485229_144485240del, NC_000008.11:g.144485230_144485240del, NC_000008.11:g.144485231_144485240del, NC_000008.11:g.144485232_144485240del, NC_000008.11:g.144485233_144485240del, NC_000008.11:g.144485234_144485240del, NC_000008.11:g.144485235_144485240del, NC_000008.11:g.144485236_144485240del, NC_000008.11:g.144485237_144485240del, NC_000008.11:g.144485238_144485240del, NC_000008.11:g.144485239_144485240del, NC_000008.11:g.144485240del, NC_000008.11:g.144485240dup, NC_000008.11:g.144485239_144485240dup, NC_000008.11:g.144485238_144485240dup, NC_000008.11:g.144485237_144485240dup, NC_000008.11:g.144485236_144485240dup, NC_000008.11:g.144485235_144485240dup, NC_000008.11:g.144485234_144485240dup, NC_000008.11:g.144485233_144485240dup, NC_000008.11:g.144485218_144485240dup, NC_000008.11:g.144485240_144485241insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.145710606_145710623del, NC_000008.10:g.145710607_145710623del, NC_000008.10:g.145710609_145710623del, NC_000008.10:g.145710611_145710623del, NC_000008.10:g.145710612_145710623del, NC_000008.10:g.145710613_145710623del, NC_000008.10:g.145710614_145710623del, NC_000008.10:g.145710615_145710623del, NC_000008.10:g.145710616_145710623del, NC_000008.10:g.145710617_145710623del, NC_000008.10:g.145710618_145710623del, NC_000008.10:g.145710619_145710623del, NC_000008.10:g.145710620_145710623del, NC_000008.10:g.145710621_145710623del, NC_000008.10:g.145710622_145710623del, NC_000008.10:g.145710623del, NC_000008.10:g.145710623dup, NC_000008.10:g.145710622_145710623dup, NC_000008.10:g.145710621_145710623dup, NC_000008.10:g.145710620_145710623dup, NC_000008.10:g.145710619_145710623dup, NC_000008.10:g.145710618_145710623dup, NC_000008.10:g.145710617_145710623dup, NC_000008.10:g.145710616_145710623dup, NC_000008.10:g.145710601_145710623dup, NC_000008.10:g.145710623_145710624insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14910667286.

rs1491066728 has merged into rs5895821 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:144492347 (GRCh38)
8:145717730 (GRCh37)
Canonical SPDI:: NC_000008.11:144492334:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:144492334:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:144492334:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:144492334:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:144492334:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:144492334:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:144492334:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:144492334:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:144492334:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:144492334:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:144492334:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:144492334:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:144492334:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PPP1R16A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.0934/360 (ALSPAC)
-=0.1117/414 (TWINSUK)
HGVS:: NC_000008.11:g.144492347_144492353del, NC_000008.11:g.144492348_144492353del, NC_000008.11:g.144492349_144492353del, NC_000008.11:g.144492350_144492353del, NC_000008.11:g.144492351_144492353del, NC_000008.11:g.144492352_144492353del, NC_000008.11:g.144492353del, NC_000008.11:g.144492353dup, NC_000008.11:g.144492352_144492353dup, NC_000008.11:g.144492351_144492353dup, NC_000008.11:g.144492350_144492353dup, NC_000008.11:g.144492348_144492353dup, NC_000008.11:g.144492344_144492353dup, NC_000008.10:g.145717730_145717736del, NC_000008.10:g.145717731_145717736del, NC_000008.10:g.145717732_145717736del, NC_000008.10:g.145717733_145717736del, NC_000008.10:g.145717734_145717736del, NC_000008.10:g.145717735_145717736del, NC_000008.10:g.145717736del, NC_000008.10:g.145717736dup, NC_000008.10:g.145717735_145717736dup, NC_000008.10:g.145717734_145717736dup, NC_000008.10:g.145717733_145717736dup, NC_000008.10:g.145717731_145717736dup, NC_000008.10:g.145717727_145717736dup

Select item 14908849787.

rs1490884978 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:144484356 (GRCh38)
8:145709739 (GRCh37)
Canonical SPDI:: NC_000008.11:144484355:C:T
Gene:: PPP1R16A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.144484356C>T, NC_000008.10:g.145709739C>T

Select item 14907876348.

rs1490787634 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144490046 (GRCh38)
8:145715429 (GRCh37)
Canonical SPDI:: NC_000008.11:144490045:G:A
Gene:: PPP1R16A (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000008.11:g.144490046G>A, NC_000008.10:g.145715429G>A, NM_032902.7:c.-901G>A, NM_032902.6:c.-901G>A, NM_001329442.2:c.-901G>A, NM_001329442.1:c.-901G>A, NM_001329444.2:c.-901G>A, NM_001329444.1:c.-901G>A, NM_001329445.2:c.-901G>A, NM_001329445.1:c.-901G>A, NM_001329443.2:c.-901G>A, NM_001329443.1:c.-901G>A, XM_047422337.1:c.-901G>A, XM_047422338.1:c.-901G>A, XM_047422334.1:c.-901G>A, XM_047422335.1:c.-901G>A, XM_047422336.1:c.-901G>A, XM_047422332.1:c.-901G>A, XM_047422331.1:c.-901G>A, XM_047422341.1:c.-974G>A, XM_047422342.1:c.-974G>A, XM_047422345.1:c.-901G>A, XM_047422340.1:c.-974G>A, XM_047422343.1:c.-901G>A, XM_047422350.1:c.-974G>A, XM_047422351.1:c.-974G>A, XM_047422349.1:c.-974G>A, XM_047422348.1:c.-974G>A, XM_047422347.1:c.-974G>A

Select item 14907071379.

rs1490707137 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144502119 (GRCh38)
8:145727502 (GRCh37)
Canonical SPDI:: NC_000008.11:144502118:G:A
Gene:: GPT (Varview), PPP1R16A (Varview), LOC101928953 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.144502119G>A, NC_000008.10:g.145727502G>A, NG_015828.1:g.3038G>A, NM_032902.7:c.*216G>A, NM_032902.6:c.*216G>A, NM_032902.5:c.*216G>A, NM_001329442.2:c.*216G>A, NM_001329442.1:c.*216G>A, NM_001329444.2:c.*216G>A, NM_001329444.1:c.*216G>A, NM_001329445.2:c.*216G>A, NM_001329445.1:c.*216G>A, NM_001329443.2:c.*216G>A, NM_001329443.1:c.*216G>A, XM_047422337.1:c.*216G>A, XM_047422338.1:c.*216G>A, XM_047422334.1:c.*216G>A, XM_047422335.1:c.*216G>A, XM_047422336.1:c.*216G>A, XM_047422332.1:c.*216G>A, XM_047422331.1:c.*216G>A, XM_047422341.1:c.*216G>A, XM_047422342.1:c.*216G>A, XM_047422345.1:c.*216G>A, XM_047422340.1:c.*216G>A, XM_047422343.1:c.*216G>A, XM_047422350.1:c.*216G>A, XM_047422339.1:c.*216G>A, XM_047422351.1:c.*216G>A, XM_047422349.1:c.*216G>A, XM_047422348.1:c.*216G>A, XM_047422347.1:c.*216G>A, XM_047422346.1:c.*216G>A, XM_047422352.1:c.*216G>A

Select item 149070510310.

rs1490705103 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144491726 (GRCh38)
8:145717109 (GRCh37)
Canonical SPDI:: NC_000008.11:144491725:G:A
Gene:: PPP1R16A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.144491726G>A, NC_000008.10:g.145717109G>A

Select item 149060933011.

rs1490609330 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:144478106 (GRCh38)
8:145703489 (GRCh37)
Canonical SPDI:: NC_000008.11:144478105:G:A,NC_000008.11:144478105:G:C
Gene:: PPP1R16A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000008.11:g.144478106G>A, NC_000008.11:g.144478106G>C, NC_000008.10:g.145703489G>A, NC_000008.10:g.145703489G>C, NG_030003.1:g.3230C>T, NG_030003.1:g.3230C>G, NM_032902.7:c.-1032G>A, NM_032902.7:c.-1032G>C, NM_032902.6:c.-1032G>A, NM_032902.6:c.-1032G>C, NM_001329442.2:c.-1009G>A, NM_001329442.2:c.-1009G>C, NM_001329442.1:c.-1009G>A, NM_001329442.1:c.-1009G>C, NM_001329443.2:c.-935G>A, NM_001329443.2:c.-935G>C, NM_001329443.1:c.-935G>A, NM_001329443.1:c.-935G>C, XM_047422334.1:c.-1032G>A, XM_047422334.1:c.-1032G>C, XM_047422335.1:c.-1009G>A, XM_047422335.1:c.-1009G>C, XM_047422331.1:c.-935G>A, XM_047422331.1:c.-935G>C, XM_047422341.1:c.-1082G>A, XM_047422341.1:c.-1082G>C, XM_047422340.1:c.-1008G>A, XM_047422340.1:c.-1008G>C, XM_047422350.1:c.-1105G>A, XM_047422350.1:c.-1105G>C, XM_047422351.1:c.-1082G>A, XM_047422351.1:c.-1082G>C, XM_047422347.1:c.-1008G>A, XM_047422347.1:c.-1008G>C

Select item 149049947912.

rs1490499479 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144498322 (GRCh38)
8:145723705 (GRCh37)
Canonical SPDI:: NC_000008.11:144498321:G:A
Gene:: PPP1R16A (Varview), LOC101928953 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.144498322G>A, NC_000008.10:g.145723705G>A, XR_007061146.1:n.1480C>T, XR_007061150.1:n.1480C>T

Select item 149045018613.

rs1490450186 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:144500926 (GRCh38)
8:145726309 (GRCh37)
Canonical SPDI:: NC_000008.11:144500925:A:G
Gene:: PPP1R16A (Varview), LOC101928953 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144500926A>G, NC_000008.10:g.145726309A>G, NG_015828.1:g.1845A>G, NM_032902.7:c.992A>G, NM_032902.6:c.992A>G, NM_032902.5:c.992A>G, NM_001329442.2:c.992A>G, NM_001329442.1:c.992A>G, NM_001329444.2:c.992A>G, NM_001329444.1:c.992A>G, NM_001329445.2:c.992A>G, NM_001329445.1:c.992A>G, NM_001329443.2:c.992A>G, NM_001329443.1:c.992A>G, XM_047422337.1:c.1214A>G, XM_047422338.1:c.1214A>G, XM_047422334.1:c.1214A>G, XM_047422335.1:c.1214A>G, XM_047422336.1:c.1214A>G, XM_047422332.1:c.1214A>G, XM_047422331.1:c.1214A>G, XM_047422341.1:c.1025A>G, XM_047422342.1:c.1025A>G, XM_047422345.1:c.992A>G, XM_047422340.1:c.1025A>G, XM_047422343.1:c.992A>G, XM_047422350.1:c.803A>G, XM_047422339.1:c.1214A>G, XM_047422351.1:c.803A>G, XM_047422349.1:c.803A>G, XM_047422348.1:c.803A>G, XM_047422347.1:c.803A>G, XM_047422346.1:c.992A>G, XM_047422352.1:c.803A>G, NP_116291.1:p.Gln331Arg, NP_001316371.1:p.Gln331Arg, NP_001316373.1:p.Gln331Arg, NP_001316374.1:p.Gln331Arg, NP_001316372.1:p.Gln331Arg, XP_047278293.1:p.Gln405Arg, XP_047278294.1:p.Gln405Arg, XP_047278290.1:p.Gln405Arg, XP_047278291.1:p.Gln405Arg, XP_047278292.1:p.Gln405Arg, XP_047278288.1:p.Gln405Arg, XP_047278287.1:p.Gln405Arg, XP_047278297.1:p.Gln342Arg, XP_047278298.1:p.Gln342Arg, XP_047278301.1:p.Gln331Arg, XP_047278296.1:p.Gln342Arg, XP_047278299.1:p.Gln331Arg, XP_047278306.1:p.Gln268Arg, XP_047278295.1:p.Gln405Arg, XP_047278307.1:p.Gln268Arg, XP_047278305.1:p.Gln268Arg, XP_047278304.1:p.Gln268Arg, XP_047278303.1:p.Gln268Arg, XP_047278302.1:p.Gln331Arg, XP_047278308.1:p.Gln268Arg

Select item 149043973214.

rs1490439732 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:144500443 (GRCh38)
8:145725826 (GRCh37)
Canonical SPDI:: NC_000008.11:144500442:A:T
Gene:: PPP1R16A (Varview), LOC101928953 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144500443A>T, NC_000008.10:g.145725826A>T, NG_015828.1:g.1362A>T

Select item 149035305315.

rs1490353053 has merged into rs1326318413 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 8:144476772 (GRCh38)
8:145702155 (GRCh37)
Canonical SPDI:: NC_000008.11:144476771:CCCCCC:CCCCC,NC_000008.11:144476771:CCCCCC:CCCCCCC
Gene:: FOXH1 (Varview), PPP1R16A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0./0 (ALFA)
-=0.00167/1 (NorthernSweden)
HGVS:: NC_000008.11:g.144476777del, NC_000008.11:g.144476777dup, NC_000008.10:g.145702160del, NC_000008.10:g.145702160dup, NG_030003.1:g.4564del, NG_030003.1:g.4564dup

Select item 149009156916.

rs1490091569 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144485526 (GRCh38)
8:145710909 (GRCh37)
Canonical SPDI:: NC_000008.11:144485525:G:A
Gene:: PPP1R16A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000253/3 (ALFA)
A=0.000092/12 (GnomAD)
A=0.079055/231 (KOREAN)
G=0.5/2 (SGDP_PRJ)
HGVS:: NC_000008.11:g.144485526G>A, NC_000008.10:g.145710909G>A

Select item 149008763117.

rs1490087631 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:144502052 (GRCh38)
8:145727435 (GRCh37)
Canonical SPDI:: NC_000008.11:144502051:T:G
Gene:: GPT (Varview), PPP1R16A (Varview), LOC101928953 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000064/17 (TOPMED)
G=0.000064/9 (GnomAD)
G=0.000312/2 (1000Genomes)
HGVS:: NC_000008.11:g.144502052T>G, NC_000008.10:g.145727435T>G, NG_015828.1:g.2971T>G, NM_032902.7:c.*149T>G, NM_032902.6:c.*149T>G, NM_032902.5:c.*149T>G, NM_001329442.2:c.*149T>G, NM_001329442.1:c.*149T>G, NM_001329444.2:c.*149T>G, NM_001329444.1:c.*149T>G, NM_001329445.2:c.*149T>G, NM_001329445.1:c.*149T>G, NM_001329443.2:c.*149T>G, NM_001329443.1:c.*149T>G, XM_047422337.1:c.*149T>G, XM_047422338.1:c.*149T>G, XM_047422334.1:c.*149T>G, XM_047422335.1:c.*149T>G, XM_047422336.1:c.*149T>G, XM_047422332.1:c.*149T>G, XM_047422331.1:c.*149T>G, XM_047422341.1:c.*149T>G, XM_047422342.1:c.*149T>G, XM_047422345.1:c.*149T>G, XM_047422340.1:c.*149T>G, XM_047422343.1:c.*149T>G, XM_047422350.1:c.*149T>G, XM_047422339.1:c.*149T>G, XM_047422351.1:c.*149T>G, XM_047422349.1:c.*149T>G, XM_047422348.1:c.*149T>G, XM_047422347.1:c.*149T>G, XM_047422346.1:c.*149T>G, XM_047422352.1:c.*149T>G

Select item 148994828618.

rs1489948286 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144500212 (GRCh38)
8:145725595 (GRCh37)
Canonical SPDI:: NC_000008.11:144500211:G:A
Gene:: PPP1R16A (Varview), LOC101928953 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144500212G>A, NC_000008.10:g.145725595G>A, NG_015828.1:g.1131G>A

Select item 148990203519.

rs1489902035 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 8:144485194 (GRCh38)
8:145710577 (GRCh37)
Canonical SPDI:: NC_000008.11:144485193:T:A,NC_000008.11:144485193:T:G
Gene:: PPP1R16A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
G=0.000004/1 (TOPMED)
A=0.00006/1 (TOMMO)
A=0.000279/6 (GnomAD)
A=0.044832/131 (KOREAN)
HGVS:: NC_000008.11:g.144485194T>A, NC_000008.11:g.144485194T>G, NC_000008.10:g.145710577T>A, NC_000008.10:g.145710577T>G

Select item 148978867720.

rs1489788677 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:144478414 (GRCh38)
8:145703797 (GRCh37)
Canonical SPDI:: NC_000008.11:144478413:C:T
Gene:: PPP1R16A (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.144478414C>T, NC_000008.10:g.145703797C>T, NG_030003.1:g.2922G>A, NM_001329444.2:c.-1053C>T, NM_001329444.1:c.-1053C>T, NM_001329445.2:c.-1022C>T, NM_001329445.1:c.-1022C>T, XM_047422337.1:c.-1127C>T, XM_047422338.1:c.-1096C>T, XM_047422336.1:c.-1053C>T, XM_047422332.1:c.-1022C>T, XM_047422342.1:c.-1126C>T, XM_047422345.1:c.-1127C>T, XM_047422343.1:c.-1096C>T, XM_047422349.1:c.-1126C>T, XM_047422348.1:c.-1095C>T

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