SNP Links for Gene (Select 101927178) - SNP

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Select item 14915785851.

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 14915703732.

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 14915655353.

rs1491565535 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 14:35083106 (GRCh38)
14:35552313 (GRCh37)
Canonical SPDI:: NC_000014.9:35083106:A:AA
Gene:: FAM177A1 (Varview), LOC101927178 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.35083107dup, NC_000014.8:g.35552313dup, NG_054633.1:g.43201dup, NM_173607.5:c.*1879dup, NM_173607.4:c.*1879dup, NM_173607.3:c.*1879dup, NM_001289022.3:c.*1879dup, NM_001289022.2:c.*1879dup, NM_001289022.1:c.*1879dup, NM_001079519.1:c.*1879dup

Select item 14915641684.

rs1491564168 [Homo sapiens]

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

Select item 14915523305.

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 14915449186.

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 14915368757.

rs1491536875 has merged into rs71435851 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 14:35080922 (GRCh38)
14:35550128 (GRCh37)
Canonical SPDI:: NC_000014.9:35080912:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000014.9:35080912:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:35080912:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:35080912:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:35080912:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:35080912:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:35080912:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:35080912:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:35080912:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:35080912:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:35080912:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35080912:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35080912:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: FAM177A1 (Varview), LOC101927178 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
T=0.01/6 (NorthernSweden)
HGVS:: NC_000014.9:g.35080922_35080932del, NC_000014.9:g.35080924_35080932del, NC_000014.9:g.35080925_35080932del, NC_000014.9:g.35080926_35080932del, NC_000014.9:g.35080927_35080932del, NC_000014.9:g.35080928_35080932del, NC_000014.9:g.35080929_35080932del, NC_000014.9:g.35080930_35080932del, NC_000014.9:g.35080931_35080932del, NC_000014.9:g.35080932del, NC_000014.9:g.35080932dup, NC_000014.9:g.35080931_35080932dup, NC_000014.9:g.35080930_35080932dup, NC_000014.8:g.35550128_35550138del, NC_000014.8:g.35550130_35550138del, NC_000014.8:g.35550131_35550138del, NC_000014.8:g.35550132_35550138del, NC_000014.8:g.35550133_35550138del, NC_000014.8:g.35550134_35550138del, NC_000014.8:g.35550135_35550138del, NC_000014.8:g.35550136_35550138del, NC_000014.8:g.35550137_35550138del, NC_000014.8:g.35550138del, NC_000014.8:g.35550138dup, NC_000014.8:g.35550137_35550138dup, NC_000014.8:g.35550136_35550138dup, NG_054633.1:g.41016_41026del, NG_054633.1:g.41018_41026del, NG_054633.1:g.41019_41026del, NG_054633.1:g.41020_41026del, NG_054633.1:g.41021_41026del, NG_054633.1:g.41022_41026del, NG_054633.1:g.41023_41026del, NG_054633.1:g.41024_41026del, NG_054633.1:g.41025_41026del, NG_054633.1:g.41026del, NG_054633.1:g.41026dup, NG_054633.1:g.41025_41026dup, NG_054633.1:g.41024_41026dup

Select item 14915309038.

rs1491530903 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 14:35083108 (GRCh38)
14:35552314 (GRCh37)
Canonical SPDI:: NC_000014.9:35083105:CACA:CA
Gene:: FAM177A1 (Varview), LOC101927178 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACA=0.000142/2 (ALFA)
-=0.000157/22 (GnomAD)
-=0.000189/50 (TOPMED)
HGVS:: NC_000014.9:g.35083106CA[1], NC_000014.8:g.35552312CA[1], NG_054633.1:g.43200CA[1], NM_173607.5:c.*1878CA[1], NM_173607.4:c.*1878CA[1], NM_173607.3:c.*1878CA[1], NM_001289022.3:c.*1878CA[1], NM_001289022.2:c.*1878CA[1], NM_001289022.1:c.*1878CA[1], NM_001079519.1:c.*1878CA[1]

Select item 14914928509.

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 149146740110.

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 149146603511.

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 149146456012.

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 149142457013.

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 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 149131758715.

rs1491317587 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 14:35080912 (GRCh38)
14:35550118 (GRCh37)
Canonical SPDI:: NC_000014.9:35080911:CT:
Gene:: FAM177A1 (Varview), LOC101927178 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0.000084/1 (ALFA)
-=0.000052/7 (GnomAD)
HGVS:: NC_000014.9:g.35080912_35080913del, NC_000014.8:g.35550118_35550119del, NG_054633.1:g.41006_41007del

Select item 149131103616.

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 149125429117.

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 149124026018.

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 149105457119.

rs1491054571 has merged into rs34822606 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTATTCTTTACTATTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 14:35084193 (GRCh38)
14:35553399 (GRCh37)
Canonical SPDI:: NC_000014.9:35084181:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:35084181:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:35084181:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:35084181:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:35084181:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:35084181:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:35084181:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:35084181:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35084181:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35084181:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35084181:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTATTCTTTACTATTTTTTTTTTTTTTTTTTTT,NC_000014.9:35084181:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35084181:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35084181:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LOC101927178 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.2784/1394 (1000Genomes)
HGVS:: NC_000014.9:g.35084193_35084200del, NC_000014.9:g.35084195_35084200del, NC_000014.9:g.35084197_35084200del, NC_000014.9:g.35084198_35084200del, NC_000014.9:g.35084199_35084200del, NC_000014.9:g.35084200del, NC_000014.9:g.35084200dup, NC_000014.9:g.35084199_35084200dup, NC_000014.9:g.35084198_35084200dup, NC_000014.9:g.35084197_35084200dup, NC_000014.9:g.35084182_35084200T[23]ATTCTTTACTATTTTTTTTTTTTTTTTTTTT[1], NC_000014.9:g.35084195_35084200dup, NC_000014.9:g.35084192_35084200dup, NC_000014.9:g.35084190_35084200dup, NC_000014.8:g.35553399_35553406del, NC_000014.8:g.35553401_35553406del, NC_000014.8:g.35553403_35553406del, NC_000014.8:g.35553404_35553406del, NC_000014.8:g.35553405_35553406del, NC_000014.8:g.35553406del, NC_000014.8:g.35553406dup, NC_000014.8:g.35553405_35553406dup, NC_000014.8:g.35553404_35553406dup, NC_000014.8:g.35553403_35553406dup, NC_000014.8:g.35553388_35553406T[23]ATTCTTTACTATTTTTTTTTTTTTTTTTTTT[1], NC_000014.8:g.35553401_35553406dup, NC_000014.8:g.35553398_35553406dup, NC_000014.8:g.35553396_35553406dup, NG_054633.1:g.44287_44294del, NG_054633.1:g.44289_44294del, NG_054633.1:g.44291_44294del, NG_054633.1:g.44292_44294del, NG_054633.1:g.44293_44294del, NG_054633.1:g.44294del, NG_054633.1:g.44294dup, NG_054633.1:g.44293_44294dup, NG_054633.1:g.44292_44294dup, NG_054633.1:g.44291_44294dup, NG_054633.1:g.44276_44294T[23]ATTCTTTACTATTTTTTTTTTTTTTTTTTTT[1], NG_054633.1:g.44289_44294dup, NG_054633.1:g.44286_44294dup, NG_054633.1:g.44284_44294dup

Select item 149104084720.

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

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