SNP Links for Gene (Select 55012) - SNP

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Select item 14915845491.

rs1491584549 has merged into rs574544715 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 14:35115157 (GRCh38)
14:35584363 (GRCh37)
Canonical SPDI:: NC_000014.9:35115148:TTTTTTTTTTTT:TTTTTTTT,NC_000014.9:35115148:TTTTTTTTTTTT:TTTTTTTTT,NC_000014.9:35115148:TTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:35115148:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:35115148:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:35115148:TTTTTTTTTTTT:TTTTTTTTTTTTTT
Gene:: PPP2R3C (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.00085/24 (TOMMO)
-=0.06355/38 (NorthernSweden)
-=0.175/7 (GENOME_DK)
HGVS:: NC_000014.9:g.35115157_35115160del, NC_000014.9:g.35115158_35115160del, NC_000014.9:g.35115159_35115160del, NC_000014.9:g.35115160del, NC_000014.9:g.35115160dup, NC_000014.9:g.35115159_35115160dup, NC_000014.8:g.35584363_35584366del, NC_000014.8:g.35584364_35584366del, NC_000014.8:g.35584365_35584366del, NC_000014.8:g.35584366del, NC_000014.8:g.35584366dup, NC_000014.8:g.35584365_35584366dup

Select item 14915785852.

rs1491578585 has merged into rs3058398 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 14:35111246 (GRCh38)
14:35580452 (GRCh37)
Canonical SPDI:: NC_000014.9:35111235:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:35111235:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:35111235:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:35111235:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:35111235:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:35111235:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:35111235:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:35111235:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:35111235:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:35111235:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:35111235:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:35111235:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:35111235:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:35111235:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:35111235:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:35111235:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:35111235:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:35111235:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:35111235:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:35111235:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:35111235:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:35111235:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:35111235:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:35111235:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:35111235:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PPP2R3C (Varview), LOC101927178 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.2993/1499 (1000Genomes)
HGVS:: NC_000014.9:g.35111246_35111257del, NC_000014.9:g.35111247_35111257del, NC_000014.9:g.35111248_35111257del, NC_000014.9:g.35111249_35111257del, NC_000014.9:g.35111250_35111257del, NC_000014.9:g.35111251_35111257del, NC_000014.9:g.35111253_35111257del, NC_000014.9:g.35111254_35111257del, NC_000014.9:g.35111255_35111257del, NC_000014.9:g.35111256_35111257del, NC_000014.9:g.35111257del, NC_000014.9:g.35111257dup, NC_000014.9:g.35111256_35111257dup, NC_000014.9:g.35111255_35111257dup, NC_000014.9:g.35111254_35111257dup, NC_000014.9:g.35111253_35111257dup, NC_000014.9:g.35111251_35111257dup, NC_000014.9:g.35111250_35111257dup, NC_000014.9:g.35111248_35111257dup, NC_000014.9:g.35111246_35111257dup, NC_000014.9:g.35111245_35111257dup, NC_000014.9:g.35111244_35111257dup, NC_000014.9:g.35111237_35111257dup, NC_000014.9:g.35111257_35111258insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.35111257_35111258insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.35580452_35580463del, NC_000014.8:g.35580453_35580463del, NC_000014.8:g.35580454_35580463del, NC_000014.8:g.35580455_35580463del, NC_000014.8:g.35580456_35580463del, NC_000014.8:g.35580457_35580463del, NC_000014.8:g.35580459_35580463del, NC_000014.8:g.35580460_35580463del, NC_000014.8:g.35580461_35580463del, NC_000014.8:g.35580462_35580463del, NC_000014.8:g.35580463del, NC_000014.8:g.35580463dup, NC_000014.8:g.35580462_35580463dup, NC_000014.8:g.35580461_35580463dup, NC_000014.8:g.35580460_35580463dup, NC_000014.8:g.35580459_35580463dup, NC_000014.8:g.35580457_35580463dup, NC_000014.8:g.35580456_35580463dup, NC_000014.8:g.35580454_35580463dup, NC_000014.8:g.35580452_35580463dup, NC_000014.8:g.35580451_35580463dup, NC_000014.8:g.35580450_35580463dup, NC_000014.8:g.35580443_35580463dup, NC_000014.8:g.35580463_35580464insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.35580463_35580464insAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14915703733.

rs1491570373 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 14:35090259 (GRCh38)
14:35559466 (GRCh37)
Canonical SPDI:: NC_000014.9:35090259:G:GG
Gene:: PPP2R3C (Varview), LOC101927178 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.35090260dup, NC_000014.8:g.35559466dup

Select item 14915523304.

rs1491552330 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 14:35098140 (GRCh38)
14:35567346 (GRCh37)
Canonical SPDI:: NC_000014.9:35098139:CT:
Gene:: PPP2R3C (Varview), LOC101927178 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.35098140_35098141del, NC_000014.8:g.35567346_35567347del

Select item 14915449185.

rs1491544918 has merged into rs111255611 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 14:35095697 (GRCh38)
14:35564903 (GRCh37)
Canonical SPDI:: NC_000014.9:35095686:AAAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:35095686:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:35095686:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:35095686:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:35095686:AAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:35095686:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:35095686:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: PPP2R3C (Varview), LOC101927178 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
A=0.00391/66 (TOMMO)
-=0.05333/32 (NorthernSweden)
-=0.10872/419 (ALSPAC)
-=0.11246/417 (TWINSUK)
-=0.2/8 (GENOME_DK)
HGVS:: NC_000014.9:g.35095697_35095698del, NC_000014.9:g.35095698del, NC_000014.9:g.35095698dup, NC_000014.9:g.35095697_35095698dup, NC_000014.9:g.35095696_35095698dup, NC_000014.9:g.35095694_35095698dup, NC_000014.9:g.35095692_35095698dup, NC_000014.8:g.35564903_35564904del, NC_000014.8:g.35564904del, NC_000014.8:g.35564904dup, NC_000014.8:g.35564903_35564904dup, NC_000014.8:g.35564902_35564904dup, NC_000014.8:g.35564900_35564904dup, NC_000014.8:g.35564898_35564904dup

Select item 14914928506.

rs1491492850 has merged into rs35661935 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 14:35106673 (GRCh38)
14:35575879 (GRCh37)
Canonical SPDI:: NC_000014.9:35106663:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000014.9:35106663:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:35106663:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:35106663:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:35106663:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:35106663:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:35106663:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:35106663:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:35106663:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:35106663:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35106663:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35106663:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35106663:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PPP2R3C (Varview), LOC101927178 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000014.9:g.35106673_35106684del, NC_000014.9:g.35106677_35106684del, NC_000014.9:g.35106678_35106684del, NC_000014.9:g.35106679_35106684del, NC_000014.9:g.35106680_35106684del, NC_000014.9:g.35106681_35106684del, NC_000014.9:g.35106682_35106684del, NC_000014.9:g.35106683_35106684del, NC_000014.9:g.35106684del, NC_000014.9:g.35106684dup, NC_000014.9:g.35106683_35106684dup, NC_000014.9:g.35106682_35106684dup, NC_000014.9:g.35106681_35106684dup, NC_000014.8:g.35575879_35575890del, NC_000014.8:g.35575883_35575890del, NC_000014.8:g.35575884_35575890del, NC_000014.8:g.35575885_35575890del, NC_000014.8:g.35575886_35575890del, NC_000014.8:g.35575887_35575890del, NC_000014.8:g.35575888_35575890del, NC_000014.8:g.35575889_35575890del, NC_000014.8:g.35575890del, NC_000014.8:g.35575890dup, NC_000014.8:g.35575889_35575890dup, NC_000014.8:g.35575888_35575890dup, NC_000014.8:g.35575887_35575890dup

Select item 14914674017.

rs1491467401 has merged into rs11307450 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 14:35102040 (GRCh38)
14:35571246 (GRCh37)
Canonical SPDI:: NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35102029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PPP2R3C (Varview), LOC101927178 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.1457/72 (NorthernSweden)
T=0.4878/2443 (1000Genomes)
HGVS:: NC_000014.9:g.35102040_35102046del, NC_000014.9:g.35102042_35102046del, NC_000014.9:g.35102043_35102046del, NC_000014.9:g.35102044_35102046del, NC_000014.9:g.35102045_35102046del, NC_000014.9:g.35102046del, NC_000014.9:g.35102046dup, NC_000014.9:g.35102045_35102046dup, NC_000014.9:g.35102044_35102046dup, NC_000014.9:g.35102043_35102046dup, NC_000014.9:g.35102042_35102046dup, NC_000014.9:g.35102039_35102046dup, NC_000014.8:g.35571246_35571252del, NC_000014.8:g.35571248_35571252del, NC_000014.8:g.35571249_35571252del, NC_000014.8:g.35571250_35571252del, NC_000014.8:g.35571251_35571252del, NC_000014.8:g.35571252del, NC_000014.8:g.35571252dup, NC_000014.8:g.35571251_35571252dup, NC_000014.8:g.35571250_35571252dup, NC_000014.8:g.35571249_35571252dup, NC_000014.8:g.35571248_35571252dup, NC_000014.8:g.35571245_35571252dup

Select item 14914660358.

rs1491466035 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 14:35108405 (GRCh38)
14:35577611 (GRCh37)
Canonical SPDI:: NC_000014.9:35108404:TA:
Gene:: PPP2R3C (Varview), LOC101927178 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000014.9:g.35108405_35108406del, NC_000014.8:g.35577611_35577612del

Select item 14914645609.

rs1491464560 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 14:35102030 (GRCh38)
14:35571237 (GRCh37)
Canonical SPDI:: NC_000014.9:35102030::C
Gene:: PPP2R3C (Varview), LOC101927178 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.00007/1 (ALFA)
HGVS:: NC_000014.9:g.35102030_35102031insC, NC_000014.8:g.35571236_35571237insC

Select item 149144703010.

rs1491447030 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 14:35115148 (GRCh38)
14:35584354 (GRCh37)
Canonical SPDI:: NC_000014.9:35115147:CT:
Gene:: PPP2R3C (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.35115148_35115149del, NC_000014.8:g.35584354_35584355del

Select item 149144338611.

rs1491443386 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 14:35124271 (GRCh38)
14:35593477 (GRCh37)
Canonical SPDI:: NC_000014.9:35124270:AT:
Gene:: PRORP (Varview), PPP2R3C (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
HGVS:: NC_000014.9:g.35124271_35124272del, NC_000014.8:g.35593477_35593478del

Select item 149142457012.

rs1491424570 has merged into rs879686261 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGT>-,TGTTGT [Show Flanks]
Chromosome:: 14:35085224 (GRCh38)
14:35554430 (GRCh37)
Canonical SPDI:: NC_000014.9:35085220:TGTTGT:TGT,NC_000014.9:35085220:TGTTGT:TGTTGTTGT
Gene:: PPP2R3C (Varview), LOC101927178 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTTGTTGT=0./0 (ALFA)
HGVS:: NC_000014.9:g.35085221TGT[1], NC_000014.9:g.35085221TGT[3], NC_000014.8:g.35554427TGT[1], NC_000014.8:g.35554427TGT[3], NG_054633.1:g.45315TGT[1], NG_054633.1:g.45315TGT[3]

Select item 149139274313.

rs1491392743 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 14:35115161 (GRCh38)
14:35584367 (GRCh37)
Canonical SPDI:: NC_000014.9:35115159:TCT:T
Gene:: PPP2R3C (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.35115161_35115162del, NC_000014.8:g.35584367_35584368del

Select item 149134341814.

rs1491343418 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 14:35090259 (GRCh38)
14:35559465 (GRCh37)
Canonical SPDI:: NC_000014.9:35090258:TG:
Gene:: PPP2R3C (Varview), LOC101927178 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00691/82 (ALFA)
-=0.00694/116 (TOMMO)
HGVS:: NC_000014.9:g.35090259_35090260del, NC_000014.8:g.35559465_35559466del

Select item 149131103615.

rs1491311036 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 14:35106663 (GRCh38)
14:35575869 (GRCh37)
Canonical SPDI:: NC_000014.9:35106662:AT:
Gene:: PPP2R3C (Varview), LOC101927178 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.00004/1 (TOMMO)
-=0.00011/10 (GnomAD)
HGVS:: NC_000014.9:g.35106663_35106664del, NC_000014.8:g.35575869_35575870del

Select item 149125429116.

rs1491254291 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 14:35098140 (GRCh38)
14:35567347 (GRCh37)
Canonical SPDI:: NC_000014.9:35098140:T:TT
Gene:: PPP2R3C (Varview), LOC101927178 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000071/1 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000034/9 (TOPMED)
HGVS:: NC_000014.9:g.35098141dup, NC_000014.8:g.35567347dup

Select item 149124026017.

rs1491240260 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 14:35111235 (GRCh38)
14:35580441 (GRCh37)
Canonical SPDI:: NC_000014.9:35111234:CA:
Gene:: PPP2R3C (Varview), LOC101927178 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000014.9:g.35111235_35111236del, NC_000014.8:g.35580441_35580442del

Select item 149120769418.

rs1491207694 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 14:35114951 (GRCh38)
14:35584158 (GRCh37)
Canonical SPDI:: NC_000014.9:35114951:CC:CCC
Gene:: PPP2R3C (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
C=0.000029/4 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000014.9:g.35114953dup, NC_000014.8:g.35584159dup

Select item 149104084719.

rs1491040847 has merged into rs10656897 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 14:35108401 (GRCh38)
14:35577607 (GRCh37)
Canonical SPDI:: NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTT,NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:35108391:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: PPP2R3C (Varview), LOC101927178 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
TTT=0.05371/207 (ALSPAC)
TTT=0.06014/223 (TWINSUK)
TTT=0.115815/580 (1000Genomes)
-=0.184211/7 (GENOME_DK)
HGVS:: NC_000014.9:g.35108401_35108405del, NC_000014.9:g.35108403_35108405del, NC_000014.9:g.35108404_35108405del, NC_000014.9:g.35108405del, NC_000014.9:g.35108405dup, NC_000014.9:g.35108404_35108405dup, NC_000014.9:g.35108403_35108405dup, NC_000014.9:g.35108402_35108405dup, NC_000014.9:g.35108401_35108405dup, NC_000014.8:g.35577607_35577611del, NC_000014.8:g.35577609_35577611del, NC_000014.8:g.35577610_35577611del, NC_000014.8:g.35577611del, NC_000014.8:g.35577611dup, NC_000014.8:g.35577610_35577611dup, NC_000014.8:g.35577609_35577611dup, NC_000014.8:g.35577608_35577611dup, NC_000014.8:g.35577607_35577611dup

Select item 149103462320.

rs1491034623 has merged into rs71121267 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 14:35119861 (GRCh38)
14:35589067 (GRCh37)
Canonical SPDI:: NC_000014.9:35119849:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:35119849:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:35119849:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:35119849:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:35119849:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:35119849:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35119849:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35119849:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35119849:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35119849:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35119849:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35119849:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35119849:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35119849:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35119849:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PRORP (Varview), PPP2R3C (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.2/8 (GENOME_DK)
HGVS:: NC_000014.9:g.35119861_35119868del, NC_000014.9:g.35119862_35119868del, NC_000014.9:g.35119867_35119868del, NC_000014.9:g.35119868del, NC_000014.9:g.35119868dup, NC_000014.9:g.35119867_35119868dup, NC_000014.9:g.35119866_35119868dup, NC_000014.9:g.35119865_35119868dup, NC_000014.9:g.35119864_35119868dup, NC_000014.9:g.35119863_35119868dup, NC_000014.9:g.35119862_35119868dup, NC_000014.9:g.35119861_35119868dup, NC_000014.9:g.35119859_35119868dup, NC_000014.9:g.35119858_35119868dup, NC_000014.9:g.35119851_35119868dup, NC_000014.8:g.35589067_35589074del, NC_000014.8:g.35589068_35589074del, NC_000014.8:g.35589073_35589074del, NC_000014.8:g.35589074del, NC_000014.8:g.35589074dup, NC_000014.8:g.35589073_35589074dup, NC_000014.8:g.35589072_35589074dup, NC_000014.8:g.35589071_35589074dup, NC_000014.8:g.35589070_35589074dup, NC_000014.8:g.35589069_35589074dup, NC_000014.8:g.35589068_35589074dup, NC_000014.8:g.35589067_35589074dup, NC_000014.8:g.35589065_35589074dup, NC_000014.8:g.35589064_35589074dup, NC_000014.8:g.35589057_35589074dup

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