SNP Links for Nucleotide (Select 219521842) - SNP

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Select item 14915215401.

rs1491521540 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGTATATAT,GTGTATATATAT,GTGTATATATATAT,GTGTATATATATATAT,GTGTATATATATATATAT,TTAT,TTATAT,TTATATAT,TTATATATAT,TTATATATATAT,TTATATATATATAT,TTATATATATATATAT,TTATATATATATATATAT,TTATATATATATATATATAT,TTATATATATATATATATATAT,TTATATATATATATATATATATAT,TTATATATATATATATATATATATAT,TTATATATATATATATATATATATATAT,TTATATATATATATATATATATATATATAT,TTATATATATATATATATATATATATATATAT,TTATATATATATATATATGT [Show Flanks]
Chromosome:: 3:196751663 (GRCh38)
3:196478535 (GRCh37)
Canonical SPDI:: NC_000003.12:196751663:T:TGTGTATATAT,NC_000003.12:196751663:T:TGTGTATATATAT,NC_000003.12:196751663:T:TGTGTATATATATAT,NC_000003.12:196751663:T:TGTGTATATATATATAT,NC_000003.12:196751663:T:TGTGTATATATATATATAT,NC_000003.12:196751663:T:TTTAT,NC_000003.12:196751663:T:TTTATAT,NC_000003.12:196751663:T:TTTATATAT,NC_000003.12:196751663:T:TTTATATATAT,NC_000003.12:196751663:T:TTTATATATATAT,NC_000003.12:196751663:T:TTTATATATATATAT,NC_000003.12:196751663:T:TTTATATATATATATAT,NC_000003.12:196751663:T:TTTATATATATATATATAT,NC_000003.12:196751663:T:TTTATATATATATATATATAT,NC_000003.12:196751663:T:TTTATATATATATATATATATAT,NC_000003.12:196751663:T:TTTATATATATATATATATATATAT,NC_000003.12:196751663:T:TTTATATATATATATATATATATATAT,NC_000003.12:196751663:T:TTTATATATATATATATATATATATATAT,NC_000003.12:196751663:T:TTTATATATATATATATATATATATATATAT,NC_000003.12:196751663:T:TTTATATATATATATATATATATATATATATAT,NC_000003.12:196751663:T:TTTATATATATATATATATGT
Gene:: PAK2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTATATATAT=0./0 (ALFA)
HGVS:: NC_000003.12:g.196751664TG[2]TA[3]T[1], NC_000003.12:g.196751664TG[2]TA[4]T[1], NC_000003.12:g.196751664TG[2]TA[5]T[1], NC_000003.12:g.196751664TG[2]TA[6]T[1], NC_000003.12:g.196751664TG[2]TA[7]T[1], NC_000003.12:g.196751664_196751665insTTAT, NC_000003.12:g.196751664_196751665insTTATAT, NC_000003.12:g.196751664_196751665insTTATATAT, NC_000003.12:g.196751664_196751665insTTATATATAT, NC_000003.12:g.196751664_196751665insTTATATATATAT, NC_000003.12:g.196751664_196751665insTTATATATATATAT, NC_000003.12:g.196751664_196751665insTTATATATATATATAT, NC_000003.12:g.196751664_196751665insTTATATATATATATATAT, NC_000003.12:g.196751664_196751665insTTATATATATATATATATAT, NC_000003.12:g.196751664_196751665insTTATATATATATATATATATAT, NC_000003.12:g.196751664_196751665insTTATATATATATATATATATATAT, NC_000003.12:g.196751664_196751665insTTATATATATATATATATATATATAT, NC_000003.12:g.196751664_196751665insTTATATATATATATATATATATATATAT, NC_000003.12:g.196751664_196751665insTTATATATATATATATATATATATATATAT, NC_000003.12:g.196751664_196751665insTTATATATATATATATATATATATATATATAT, NC_000003.12:g.196751664_196751665insTTATATATATATATATATGT, NC_000003.11:g.196478535TG[2]TA[3]T[1], NC_000003.11:g.196478535TG[2]TA[4]T[1], NC_000003.11:g.196478535TG[2]TA[5]T[1], NC_000003.11:g.196478535TG[2]TA[6]T[1], NC_000003.11:g.196478535TG[2]TA[7]T[1], NC_000003.11:g.196478535_196478536insTTAT, NC_000003.11:g.196478535_196478536insTTATAT, NC_000003.11:g.196478535_196478536insTTATATAT, NC_000003.11:g.196478535_196478536insTTATATATAT, NC_000003.11:g.196478535_196478536insTTATATATATAT, NC_000003.11:g.196478535_196478536insTTATATATATATAT, NC_000003.11:g.196478535_196478536insTTATATATATATATAT, NC_000003.11:g.196478535_196478536insTTATATATATATATATAT, NC_000003.11:g.196478535_196478536insTTATATATATATATATATAT, NC_000003.11:g.196478535_196478536insTTATATATATATATATATATAT, NC_000003.11:g.196478535_196478536insTTATATATATATATATATATATAT, NC_000003.11:g.196478535_196478536insTTATATATATATATATATATATATAT, NC_000003.11:g.196478535_196478536insTTATATATATATATATATATATATATAT, NC_000003.11:g.196478535_196478536insTTATATATATATATATATATATATATATAT, NC_000003.11:g.196478535_196478536insTTATATATATATATATATATATATATATATAT, NC_000003.11:g.196478535_196478536insTTATATATATATATATATGT, NG_009227.1:g.16808TG[2]TA[3]T[1], NG_009227.1:g.16808TG[2]TA[4]T[1], NG_009227.1:g.16808TG[2]TA[5]T[1], NG_009227.1:g.16808TG[2]TA[6]T[1], NG_009227.1:g.16808TG[2]TA[7]T[1], NG_009227.1:g.16808_16809insTTAT, NG_009227.1:g.16808_16809insTTATAT, NG_009227.1:g.16808_16809insTTATATAT, NG_009227.1:g.16808_16809insTTATATATAT, NG_009227.1:g.16808_16809insTTATATATATAT, NG_009227.1:g.16808_16809insTTATATATATATAT, NG_009227.1:g.16808_16809insTTATATATATATATAT, NG_009227.1:g.16808_16809insTTATATATATATATATAT, NG_009227.1:g.16808_16809insTTATATATATATATATATAT, NG_009227.1:g.16808_16809insTTATATATATATATATATATAT, NG_009227.1:g.16808_16809insTTATATATATATATATATATATAT, NG_009227.1:g.16808_16809insTTATATATATATATATATATATATAT, NG_009227.1:g.16808_16809insTTATATATATATATATATATATATATAT, NG_009227.1:g.16808_16809insTTATATATATATATATATATATATATATAT, NG_009227.1:g.16808_16809insTTATATATATATATATATATATATATATATAT, NG_009227.1:g.16808_16809insTTATATATATATATATATGT

Select item 14915050932.

rs1491505093 has merged into rs200558658 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:196751755 (GRCh38)
3:196478626 (GRCh37)
Canonical SPDI:: NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196751741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PAK2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.4487/2247 (1000Genomes)
HGVS:: NC_000003.12:g.196751755_196751761del, NC_000003.12:g.196751756_196751761del, NC_000003.12:g.196751757_196751761del, NC_000003.12:g.196751758_196751761del, NC_000003.12:g.196751759_196751761del, NC_000003.12:g.196751760_196751761del, NC_000003.12:g.196751761del, NC_000003.12:g.196751761dup, NC_000003.12:g.196751760_196751761dup, NC_000003.12:g.196751759_196751761dup, NC_000003.12:g.196751758_196751761dup, NC_000003.12:g.196751757_196751761dup, NC_000003.11:g.196478626_196478632del, NC_000003.11:g.196478627_196478632del, NC_000003.11:g.196478628_196478632del, NC_000003.11:g.196478629_196478632del, NC_000003.11:g.196478630_196478632del, NC_000003.11:g.196478631_196478632del, NC_000003.11:g.196478632del, NC_000003.11:g.196478632dup, NC_000003.11:g.196478631_196478632dup, NC_000003.11:g.196478630_196478632dup, NC_000003.11:g.196478629_196478632dup, NC_000003.11:g.196478628_196478632dup, NG_009227.1:g.16899_16905del, NG_009227.1:g.16900_16905del, NG_009227.1:g.16901_16905del, NG_009227.1:g.16902_16905del, NG_009227.1:g.16903_16905del, NG_009227.1:g.16904_16905del, NG_009227.1:g.16905del, NG_009227.1:g.16905dup, NG_009227.1:g.16904_16905dup, NG_009227.1:g.16903_16905dup, NG_009227.1:g.16902_16905dup, NG_009227.1:g.16901_16905dup

Select item 14915018353.

rs1491501835 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 3:196783603 (GRCh38)
3:196510474 (GRCh37)
Canonical SPDI:: NC_000003.12:196783602:GT:
Gene:: PAK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000102/14 (GnomAD)
-=0.000312/2 (1000Genomes)
HGVS:: NC_000003.12:g.196783603_196783604del, NC_000003.11:g.196510474_196510475del, NG_009227.1:g.48747_48748del

Select item 14914681064.

rs1491468106 has merged into rs1178132328 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 3:196736312 (GRCh38)
3:196463183 (GRCh37)
Canonical SPDI:: NC_000003.12:196736299:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:196736299:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:196736299:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:196736299:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:196736299:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:196736299:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:196736299:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:196736299:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:196736299:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: PIGX (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000003.12:g.196736312_196736315del, NC_000003.12:g.196736313_196736315del, NC_000003.12:g.196736314_196736315del, NC_000003.12:g.196736315del, NC_000003.12:g.196736315dup, NC_000003.12:g.196736314_196736315dup, NC_000003.12:g.196736313_196736315dup, NC_000003.12:g.196736312_196736315dup, NC_000003.12:g.196736310_196736315dup, NC_000003.11:g.196463183_196463186del, NC_000003.11:g.196463184_196463186del, NC_000003.11:g.196463185_196463186del, NC_000003.11:g.196463186del, NC_000003.11:g.196463186dup, NC_000003.11:g.196463185_196463186dup, NC_000003.11:g.196463184_196463186dup, NC_000003.11:g.196463183_196463186dup, NC_000003.11:g.196463181_196463186dup, NG_009227.1:g.1456_1459del, NG_009227.1:g.1457_1459del, NG_009227.1:g.1458_1459del, NG_009227.1:g.1459del, NG_009227.1:g.1459dup, NG_009227.1:g.1458_1459dup, NG_009227.1:g.1457_1459dup, NG_009227.1:g.1456_1459dup, NG_009227.1:g.1454_1459dup

Select item 14914660255.

rs1491466025 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 3:196751695 (GRCh38)
3:196478566 (GRCh37)
Canonical SPDI:: NC_000003.12:196751694:AA:
Gene:: PAK2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000003.12:g.196751695_196751696del, NC_000003.11:g.196478566_196478567del, NG_009227.1:g.16839_16840del

Select item 14914476696.

rs1491447669 has merged into rs11314152 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 3:196763977 (GRCh38)
3:196490848 (GRCh37)
Canonical SPDI:: NC_000003.12:196763964:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:196763964:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:196763964:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:196763964:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:196763964:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:196763964:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:196763964:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:196763964:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196763964:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: PAK2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0.4383/2195 (1000Genomes)
HGVS:: NC_000003.12:g.196763977_196763979del, NC_000003.12:g.196763978_196763979del, NC_000003.12:g.196763979del, NC_000003.12:g.196763979dup, NC_000003.12:g.196763978_196763979dup, NC_000003.12:g.196763977_196763979dup, NC_000003.12:g.196763976_196763979dup, NC_000003.12:g.196763974_196763979dup, NC_000003.12:g.196763972_196763979dup, NC_000003.11:g.196490848_196490850del, NC_000003.11:g.196490849_196490850del, NC_000003.11:g.196490850del, NC_000003.11:g.196490850dup, NC_000003.11:g.196490849_196490850dup, NC_000003.11:g.196490848_196490850dup, NC_000003.11:g.196490847_196490850dup, NC_000003.11:g.196490845_196490850dup, NC_000003.11:g.196490843_196490850dup, NG_009227.1:g.29121_29123del, NG_009227.1:g.29122_29123del, NG_009227.1:g.29123del, NG_009227.1:g.29123dup, NG_009227.1:g.29122_29123dup, NG_009227.1:g.29121_29123dup, NG_009227.1:g.29120_29123dup, NG_009227.1:g.29118_29123dup, NG_009227.1:g.29116_29123dup

Select item 14914364357.

rs1491436435 [Homo sapiens]

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

Select item 14914064108.

rs1491406410 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 3:196761845 (GRCh38)
3:196488717 (GRCh37)
Canonical SPDI:: NC_000003.12:196761845:A:AA
Gene:: PAK2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000008/1 (GnomAD)
HGVS:: NC_000003.12:g.196761846dup, NC_000003.11:g.196488717dup, NG_009227.1:g.26990dup

Select item 14913710139.

rs1491371013 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AAA,ACA [Show Flanks]
Chromosome:: 3:196751662 (GRCh38)
3:196478534 (GRCh37)
Canonical SPDI:: NC_000003.12:196751662::A,NC_000003.12:196751662::AAA,NC_000003.12:196751662::ACA
Gene:: PAK2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000003.12:g.196751662_196751663insA, NC_000003.12:g.196751662_196751663insAAA, NC_000003.12:g.196751662_196751663insACA, NC_000003.11:g.196478533_196478534insA, NC_000003.11:g.196478533_196478534insAAA, NC_000003.11:g.196478533_196478534insACA, NG_009227.1:g.16806_16807insA, NG_009227.1:g.16806_16807insAAA, NG_009227.1:g.16806_16807insACA

Select item 149135545210.

rs1491355452 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 3:196751698 (GRCh38)
3:196478570 (GRCh37)
Canonical SPDI:: NC_000003.12:196751698::A
Gene:: PAK2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.00238/39 (TOMMO)
A=0.00278/5 (Korea1K)
A=0.00615/541 (GnomAD)
HGVS:: NC_000003.12:g.196751698_196751699insA, NC_000003.11:g.196478569_196478570insA, NG_009227.1:g.16842_16843insA

Select item 149133260411.

rs1491332604 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 3:196815800 (GRCh38)
3:196542671 (GRCh37)
Canonical SPDI:: NC_000003.12:196815796:AGAGA:AGA
Gene:: PAK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGA=0.000084/1 (ALFA)
-=0.000057/8 (GnomAD)
HGVS:: NC_000003.12:g.196815798GA[1], NC_000003.11:g.196542669GA[1], NG_009227.1:g.80942GA[1]

Select item 149127853312.

rs1491278533 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 3:196751698 (GRCh38)
3:196478569 (GRCh37)
Canonical SPDI:: NC_000003.12:196751697:TC:
Gene:: PAK2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.0004/6 (TOMMO)
-=0.00152/26 (GnomAD)
HGVS:: NC_000003.12:g.196751698_196751699del, NC_000003.11:g.196478569_196478570del, NG_009227.1:g.16842_16843del

Select item 149123729713.

rs1491237297 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 3:196751742 (GRCh38)
3:196478614 (GRCh37)
Canonical SPDI:: NC_000003.12:196751742:TT:TTCTT
Gene:: PAK2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCTT=0.00253/30 (ALFA)
TTC=0.0091/199 (GnomAD)
HGVS:: NC_000003.12:g.196751744_196751745insCTT, NC_000003.11:g.196478615_196478616insCTT, NG_009227.1:g.16888_16889insCTT

Select item 149120828214.

rs1491208282 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 3:196771834 (GRCh38)
3:196498705 (GRCh37)
Canonical SPDI:: NC_000003.12:196771833:AG:
Gene:: PAK2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.196771834_196771835del, NC_000003.11:g.196498705_196498706del, NG_009227.1:g.36978_36979del

Select item 149116646115.

rs1491166461 has merged into rs11314877 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:196817168 (GRCh38)
3:196544039 (GRCh37)
Canonical SPDI:: NC_000003.12:196817156:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:196817156:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:196817156:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:196817156:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:196817156:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:196817156:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:196817156:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:196817156:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:196817156:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:196817156:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196817156:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196817156:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196817156:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196817156:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196817156:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196817156:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196817156:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196817156:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196817156:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196817156:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196817156:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196817156:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PAK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000003.12:g.196817168_196817182del, NC_000003.12:g.196817169_196817182del, NC_000003.12:g.196817171_196817182del, NC_000003.12:g.196817172_196817182del, NC_000003.12:g.196817173_196817182del, NC_000003.12:g.196817174_196817182del, NC_000003.12:g.196817175_196817182del, NC_000003.12:g.196817176_196817182del, NC_000003.12:g.196817177_196817182del, NC_000003.12:g.196817178_196817182del, NC_000003.12:g.196817179_196817182del, NC_000003.12:g.196817180_196817182del, NC_000003.12:g.196817181_196817182del, NC_000003.12:g.196817182del, NC_000003.12:g.196817182dup, NC_000003.12:g.196817181_196817182dup, NC_000003.12:g.196817180_196817182dup, NC_000003.12:g.196817179_196817182dup, NC_000003.12:g.196817178_196817182dup, NC_000003.12:g.196817177_196817182dup, NC_000003.12:g.196817176_196817182dup, NC_000003.12:g.196817173_196817182dup, NC_000003.11:g.196544039_196544053del, NC_000003.11:g.196544040_196544053del, NC_000003.11:g.196544042_196544053del, NC_000003.11:g.196544043_196544053del, NC_000003.11:g.196544044_196544053del, NC_000003.11:g.196544045_196544053del, NC_000003.11:g.196544046_196544053del, NC_000003.11:g.196544047_196544053del, NC_000003.11:g.196544048_196544053del, NC_000003.11:g.196544049_196544053del, NC_000003.11:g.196544050_196544053del, NC_000003.11:g.196544051_196544053del, NC_000003.11:g.196544052_196544053del, NC_000003.11:g.196544053del, NC_000003.11:g.196544053dup, NC_000003.11:g.196544052_196544053dup, NC_000003.11:g.196544051_196544053dup, NC_000003.11:g.196544050_196544053dup, NC_000003.11:g.196544049_196544053dup, NC_000003.11:g.196544048_196544053dup, NC_000003.11:g.196544047_196544053dup, NC_000003.11:g.196544044_196544053dup, NG_009227.1:g.82312_82326del, NG_009227.1:g.82313_82326del, NG_009227.1:g.82315_82326del, NG_009227.1:g.82316_82326del, NG_009227.1:g.82317_82326del, NG_009227.1:g.82318_82326del, NG_009227.1:g.82319_82326del, NG_009227.1:g.82320_82326del, NG_009227.1:g.82321_82326del, NG_009227.1:g.82322_82326del, NG_009227.1:g.82323_82326del, NG_009227.1:g.82324_82326del, NG_009227.1:g.82325_82326del, NG_009227.1:g.82326del, NG_009227.1:g.82326dup, NG_009227.1:g.82325_82326dup, NG_009227.1:g.82324_82326dup, NG_009227.1:g.82323_82326dup, NG_009227.1:g.82322_82326dup, NG_009227.1:g.82321_82326dup, NG_009227.1:g.82320_82326dup, NG_009227.1:g.82317_82326dup

Select item 149113443616.

rs1491134436 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 3:196761846 (GRCh38)
3:196488717 (GRCh37)
Canonical SPDI:: NC_000003.12:196761844:CAC:C
Gene:: PAK2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.196761846_196761847del, NC_000003.11:g.196488717_196488718del, NG_009227.1:g.26990_26991del

Select item 149111262917.

rs1491112629 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 3:196766931 (GRCh38)
3:196493802 (GRCh37)
Canonical SPDI:: NC_000003.12:196766930:CG:
Gene:: PAK2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000013/1 (GnomAD)
HGVS:: NC_000003.12:g.196766931_196766932del, NC_000003.11:g.196493802_196493803del, NG_009227.1:g.32075_32076del

Select item 149108101918.

rs1491081019 has merged into rs11314152 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 3:196763977 (GRCh38)
3:196490848 (GRCh37)
Canonical SPDI:: NC_000003.12:196763964:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:196763964:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:196763964:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:196763964:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:196763964:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:196763964:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:196763964:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:196763964:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196763964:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: PAK2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0.4383/2195 (1000Genomes)
HGVS:: NC_000003.12:g.196763977_196763979del, NC_000003.12:g.196763978_196763979del, NC_000003.12:g.196763979del, NC_000003.12:g.196763979dup, NC_000003.12:g.196763978_196763979dup, NC_000003.12:g.196763977_196763979dup, NC_000003.12:g.196763976_196763979dup, NC_000003.12:g.196763974_196763979dup, NC_000003.12:g.196763972_196763979dup, NC_000003.11:g.196490848_196490850del, NC_000003.11:g.196490849_196490850del, NC_000003.11:g.196490850del, NC_000003.11:g.196490850dup, NC_000003.11:g.196490849_196490850dup, NC_000003.11:g.196490848_196490850dup, NC_000003.11:g.196490847_196490850dup, NC_000003.11:g.196490845_196490850dup, NC_000003.11:g.196490843_196490850dup, NG_009227.1:g.29121_29123del, NG_009227.1:g.29122_29123del, NG_009227.1:g.29123del, NG_009227.1:g.29123dup, NG_009227.1:g.29122_29123dup, NG_009227.1:g.29121_29123dup, NG_009227.1:g.29120_29123dup, NG_009227.1:g.29118_29123dup, NG_009227.1:g.29116_29123dup

Select item 149105395519.

rs1491053955 has merged into rs58321910 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 3:196787592 (GRCh38)
3:196514463 (GRCh37)
Canonical SPDI:: NC_000003.12:196787580:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:196787580:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:196787580:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:196787580:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:196787580:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:196787580:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:196787580:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:196787580:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:196787580:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: PAK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.349/1748 (1000Genomes)
HGVS:: NC_000003.12:g.196787592_196787597del, NC_000003.12:g.196787594_196787597del, NC_000003.12:g.196787595_196787597del, NC_000003.12:g.196787596_196787597del, NC_000003.12:g.196787597del, NC_000003.12:g.196787597dup, NC_000003.12:g.196787596_196787597dup, NC_000003.12:g.196787595_196787597dup, NC_000003.12:g.196787593_196787597dup, NC_000003.11:g.196514463_196514468del, NC_000003.11:g.196514465_196514468del, NC_000003.11:g.196514466_196514468del, NC_000003.11:g.196514467_196514468del, NC_000003.11:g.196514468del, NC_000003.11:g.196514468dup, NC_000003.11:g.196514467_196514468dup, NC_000003.11:g.196514466_196514468dup, NC_000003.11:g.196514464_196514468dup, NG_009227.1:g.52736_52741del, NG_009227.1:g.52738_52741del, NG_009227.1:g.52739_52741del, NG_009227.1:g.52740_52741del, NG_009227.1:g.52741del, NG_009227.1:g.52741dup, NG_009227.1:g.52740_52741dup, NG_009227.1:g.52739_52741dup, NG_009227.1:g.52737_52741dup

Select item 149104784020.

rs1491047840 has merged into rs199605682 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 3:196749999 (GRCh38)
3:196476870 (GRCh37)
Canonical SPDI:: NC_000003.12:196749989:TTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:196749989:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:196749989:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:196749989:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:196749989:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:196749989:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:196749989:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: PAK2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
TT=0.3638/1822 (1000Genomes)
HGVS:: NC_000003.12:g.196749999_196750003del, NC_000003.12:g.196750001_196750003del, NC_000003.12:g.196750002_196750003del, NC_000003.12:g.196750003del, NC_000003.12:g.196750003dup, NC_000003.12:g.196750002_196750003dup, NC_000003.12:g.196750001_196750003dup, NC_000003.11:g.196476870_196476874del, NC_000003.11:g.196476872_196476874del, NC_000003.11:g.196476873_196476874del, NC_000003.11:g.196476874del, NC_000003.11:g.196476874dup, NC_000003.11:g.196476873_196476874dup, NC_000003.11:g.196476872_196476874dup, NG_009227.1:g.15143_15147del, NG_009227.1:g.15145_15147del, NG_009227.1:g.15146_15147del, NG_009227.1:g.15147del, NG_009227.1:g.15147dup, NG_009227.1:g.15146_15147dup, NG_009227.1:g.15145_15147dup

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