SNP Links for Gene (Select 54866) - SNP

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Select item 14915407031.

rs1491540703 has merged into rs71104738 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 15:40829594 (GRCh38)
15:41121792 (GRCh37)
Canonical SPDI:: NC_000015.10:40829582:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:40829582:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:40829582:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:40829582:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:40829582:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:40829582:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:40829582:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:40829582:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:40829582:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PPP1R14D (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.3161/1583 (1000Genomes)
HGVS:: NC_000015.10:g.40829594_40829601del, NC_000015.10:g.40829599_40829601del, NC_000015.10:g.40829600_40829601del, NC_000015.10:g.40829601del, NC_000015.10:g.40829601dup, NC_000015.10:g.40829600_40829601dup, NC_000015.10:g.40829599_40829601dup, NC_000015.10:g.40829596_40829601dup, NC_000015.10:g.40829592_40829601dup, NC_000015.9:g.41121792_41121799del, NC_000015.9:g.41121797_41121799del, NC_000015.9:g.41121798_41121799del, NC_000015.9:g.41121799del, NC_000015.9:g.41121799dup, NC_000015.9:g.41121798_41121799dup, NC_000015.9:g.41121797_41121799dup, NC_000015.9:g.41121794_41121799dup, NC_000015.9:g.41121790_41121799dup

Select item 14914103542.

rs1491410354 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 15:40817346 (GRCh38)
15:41109545 (GRCh37)
Canonical SPDI:: NC_000015.10:40817346:T:TT
Gene:: PPP1R14D (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant
HGVS:: NC_000015.10:g.40817347dup, NC_000015.9:g.41109545dup, NM_001130143.2:c.256dup, NM_001130143.1:c.256dup, NP_001123615.1:p.Ser86fs

Select item 14913636003.

rs1491363600 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 15:40821041 (GRCh38)
15:41113240 (GRCh37)
Canonical SPDI:: NC_000015.10:40821041:A:AGA
Gene:: PPP1R14D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0./0 (ALFA)
AG=0.000004/1 (TOPMED)
AG=0.00001/1 (GnomAD)
HGVS:: NC_000015.10:g.40821042_40821043insGA, NC_000015.9:g.41113240_41113241insGA

Select item 14912913684.

rs1491291368 has merged into rs1162634254 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA [Show Flanks]
Chromosome:: 15:40821047 (GRCh38)
15:41113245 (GRCh37)
Canonical SPDI:: NC_000015.10:40821040:AAAAAAAAA:AAAAAA,NC_000015.10:40821040:AAAAAAAAA:AAAAAAA,NC_000015.10:40821040:AAAAAAAAA:AAAAAAAA,NC_000015.10:40821040:AAAAAAAAA:AAAAAAAAAA
Gene:: PPP1R14D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
HGVS:: NC_000015.10:g.40821047_40821049del, NC_000015.10:g.40821048_40821049del, NC_000015.10:g.40821049del, NC_000015.10:g.40821049dup, NC_000015.9:g.41113245_41113247del, NC_000015.9:g.41113246_41113247del, NC_000015.9:g.41113247del, NC_000015.9:g.41113247dup

Select item 14912039675.

rs1491203967 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 15:40817352 (GRCh38)
15:41109550 (GRCh37)
Canonical SPDI:: NC_000015.10:40817351:CA:
Gene:: PPP1R14D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000015.10:g.40817352_40817353del, NC_000015.9:g.41109550_41109551del

Select item 14911314416.

rs1491131441 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 15:40817348 (GRCh38)
15:41109546 (GRCh37)
Canonical SPDI:: NC_000015.10:40817345:CTCT:CT
Gene:: PPP1R14D (Varview)
Functional Consequence:: intron_variant,splice_acceptor_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0.000084/1 (ALFA)
-=0.00003/4 (GnomAD)
-=0.000071/2 (TOMMO)
HGVS:: NC_000015.10:g.40817346CT[1], NC_000015.9:g.41109544CT[1]

Select item 14910359207.

rs1491035920 has merged into rs34000020 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 15:40817625 (GRCh38)
15:41109823 (GRCh37)
Canonical SPDI:: NC_000015.10:40817612:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:40817612:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:40817612:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:40817612:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:40817612:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:40817612:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:40817612:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:40817612:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:40817612:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:40817612:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:40817612:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PPP1R14D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.1539/593 (ALSPAC)
-=0.4133/2070 (1000Genomes)
-=0.475/19 (GENOME_DK)
HGVS:: NC_000015.10:g.40817625_40817631del, NC_000015.10:g.40817626_40817631del, NC_000015.10:g.40817627_40817631del, NC_000015.10:g.40817628_40817631del, NC_000015.10:g.40817629_40817631del, NC_000015.10:g.40817630_40817631del, NC_000015.10:g.40817631del, NC_000015.10:g.40817631dup, NC_000015.10:g.40817630_40817631dup, NC_000015.10:g.40817629_40817631dup, NC_000015.10:g.40817623_40817631dup, NC_000015.9:g.41109823_41109829del, NC_000015.9:g.41109824_41109829del, NC_000015.9:g.41109825_41109829del, NC_000015.9:g.41109826_41109829del, NC_000015.9:g.41109827_41109829del, NC_000015.9:g.41109828_41109829del, NC_000015.9:g.41109829del, NC_000015.9:g.41109829dup, NC_000015.9:g.41109828_41109829dup, NC_000015.9:g.41109827_41109829dup, NC_000015.9:g.41109821_41109829dup

Select item 14909514128.

rs1490951412 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACC [Show Flanks]
Chromosome:: 15:40820238 (GRCh38)
15:41112437 (GRCh37)
Canonical SPDI:: NC_000015.10:40820238:ACC:ACCACC
Gene:: PPP1R14D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACCACC=0./0 (ALFA)
ACC=0.000004/1 (TOPMED)
ACC=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.40820239_40820241dup, NC_000015.9:g.41112437_41112439dup

Select item 14909205419.

rs1490920541 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:40819487 (GRCh38)
15:41111685 (GRCh37)
Canonical SPDI:: NC_000015.10:40819486:A:G
Gene:: PPP1R14D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00016/1 (1000Genomes)
HGVS:: NC_000015.10:g.40819487A>G, NC_000015.9:g.41111685A>G

Select item 148978080110.

rs1489780801 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:40821199 (GRCh38)
15:41113397 (GRCh37)
Canonical SPDI:: NC_000015.10:40821198:G:T
Gene:: PPP1R14D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.40821199G>T, NC_000015.9:g.41113397G>T

Select item 148948490811.

rs1489484908 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:40817612 (GRCh38)
15:41109810 (GRCh37)
Canonical SPDI:: NC_000015.10:40817611:C:A,NC_000015.10:40817611:C:T
Gene:: PPP1R14D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.01369/40 (KOREAN)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000015.10:g.40817612C>A, NC_000015.10:g.40817612C>T, NC_000015.9:g.41109810C>A, NC_000015.9:g.41109810C>T

Select item 148937543212.

rs1489375432 has merged into rs1189173309 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 15:40825294 (GRCh38)
15:41117492 (GRCh37)
Canonical SPDI:: NC_000015.10:40825285:AAAAAAAAAAAAAA:AAAAAAAA,NC_000015.10:40825285:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:40825285:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:40825285:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:40825285:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:40825285:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: PPP1R14D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000015.10:g.40825294_40825299del, NC_000015.10:g.40825297_40825299del, NC_000015.10:g.40825298_40825299del, NC_000015.10:g.40825299del, NC_000015.10:g.40825299dup, NC_000015.10:g.40825298_40825299dup, NC_000015.9:g.41117492_41117497del, NC_000015.9:g.41117495_41117497del, NC_000015.9:g.41117496_41117497del, NC_000015.9:g.41117497del, NC_000015.9:g.41117497dup, NC_000015.9:g.41117496_41117497dup

Select item 148901815713.

rs1489018157 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:40825927 (GRCh38)
15:41118125 (GRCh37)
Canonical SPDI:: NC_000015.10:40825926:C:T
Gene:: PPP1R14D (Varview)
Functional Consequence:: intron_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_000015.10:g.40825927C>T, NC_000015.9:g.41118125C>T

Select item 148896564614.

rs1488965646 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:40824827 (GRCh38)
15:41117025 (GRCh37)
Canonical SPDI:: NC_000015.10:40824826:C:T
Gene:: PPP1R14D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000071/1 (TOMMO)
HGVS:: NC_000015.10:g.40824827C>T, NC_000015.9:g.41117025C>T

Select item 148889877915.

rs1488898779 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:40824982 (GRCh38)
15:41117180 (GRCh37)
Canonical SPDI:: NC_000015.10:40824981:A:G
Gene:: PPP1R14D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000094/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.40824982A>G, NC_000015.9:g.41117180A>G

Select item 148884964716.

rs1488849647 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:40822579 (GRCh38)
15:41114777 (GRCh37)
Canonical SPDI:: NC_000015.10:40822578:G:A
Gene:: PPP1R14D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000212/6 (TOMMO)
HGVS:: NC_000015.10:g.40822579G>A, NC_000015.9:g.41114777G>A

Select item 148871110817.

rs1488711108 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:40829061 (GRCh38)
15:41121259 (GRCh37)
Canonical SPDI:: NC_000015.10:40829060:C:A
Gene:: PPP1R14D (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000034/9 (TOPMED)
HGVS:: NC_000015.10:g.40829061C>A, NC_000015.9:g.41121259C>A

Select item 148869028418.

rs1488690284 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:40825342 (GRCh38)
15:41117540 (GRCh37)
Canonical SPDI:: NC_000015.10:40825341:C:T
Gene:: PPP1R14D (Varview)
Functional Consequence:: intron_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_000015.10:g.40825342C>T, NC_000015.9:g.41117540C>T

Select item 148850756119.

rs1488507561 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:40825805 (GRCh38)
15:41118003 (GRCh37)
Canonical SPDI:: NC_000015.10:40825804:G:A
Gene:: PPP1R14D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.40825805G>A, NC_000015.9:g.41118003G>A

Select item 148840588920.

rs1488405889 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:40817232 (GRCh38)
15:41109430 (GRCh37)
Canonical SPDI:: NC_000015.10:40817231:C:T
Gene:: PPP1R14D (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.40817232C>T, NC_000015.9:g.41109430C>T, NM_001130143.2:c.371G>A, NM_001130143.1:c.371G>A, NP_001123615.1:p.Gly124Glu

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