SNP Links for Gene (Select 5613) - SNP

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Select item 14915890411.

rs1491589041 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: X:3613883 (GRCh38)
X:3531924 (GRCh37)
Canonical SPDI:: NC_000023.11:3613882:AG:
Gene:: PRKX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.3613883_3613884del, NC_000023.10:g.3531924_3531925del, NG_016716.1:g.104751_104752del

Select item 14915793082.

rs1491579308 has merged into rs1213735943 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGG>-,G,GG,GGG,GGGGG [Show Flanks]
Chromosome:: X:3639458 (GRCh38)
X:3557499 (GRCh37)
Canonical SPDI:: NC_000023.11:3639454:GGGGGGG:GGG,NC_000023.11:3639454:GGGGGGG:GGGG,NC_000023.11:3639454:GGGGGGG:GGGGG,NC_000023.11:3639454:GGGGGGG:GGGGGG,NC_000023.11:3639454:GGGGGGG:GGGGGGGG
Gene:: PRKX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
HGVS:: NC_000023.11:g.3639458_3639461del, NC_000023.11:g.3639459_3639461del, NC_000023.11:g.3639460_3639461del, NC_000023.11:g.3639461del, NC_000023.11:g.3639461dup, NC_000023.10:g.3557499_3557502del, NC_000023.10:g.3557500_3557502del, NC_000023.10:g.3557501_3557502del, NC_000023.10:g.3557502del, NC_000023.10:g.3557502dup, NG_016716.1:g.79177_79180del, NG_016716.1:g.79178_79180del, NG_016716.1:g.79179_79180del, NG_016716.1:g.79180del, NG_016716.1:g.79180dup

Select item 14915526883.

rs1491552688 has merged into rs201533033 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTG>-,TG,TGTGTG [Show Flanks]
Chromosome:: X:3665135 (GRCh38)
X:3583176 (GRCh37)
Canonical SPDI:: NC_000023.11:3665128:TGTGTGTGTG:TGTGTG,NC_000023.11:3665128:TGTGTGTGTG:TGTGTGTG,NC_000023.11:3665128:TGTGTGTGTG:TGTGTGTGTGTG
Gene:: PRKX (Varview), PRKX-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTG=0./0 (ALFA)
-=0.00187/7 (1000Genomes)
HGVS:: NC_000023.11:g.3665129TG[3], NC_000023.11:g.3665129TG[4], NC_000023.11:g.3665129TG[6], NC_000023.10:g.3583170TG[3], NC_000023.10:g.3583170TG[4], NC_000023.10:g.3583170TG[6], NG_016716.1:g.53497CA[3], NG_016716.1:g.53497CA[4], NG_016716.1:g.53497CA[6]

Select item 14915196844.

rs1491519684 has merged into rs60090711 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:3643014 (GRCh38)
X:3561055 (GRCh37)
Canonical SPDI:: NC_000023.11:3643004:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000023.11:3643004:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:3643004:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:3643004:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:3643004:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:3643004:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:3643004:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:3643004:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:3643004:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:3643004:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:3643004:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3643004:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3643004:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3643004:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3643004:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3643004:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3643004:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3643004:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3643004:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3643004:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PRKX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.2368/9 (GENOME_DK)
HGVS:: NC_000023.11:g.3643014_3643030del, NC_000023.11:g.3643017_3643030del, NC_000023.11:g.3643018_3643030del, NC_000023.11:g.3643019_3643030del, NC_000023.11:g.3643020_3643030del, NC_000023.11:g.3643021_3643030del, NC_000023.11:g.3643022_3643030del, NC_000023.11:g.3643023_3643030del, NC_000023.11:g.3643024_3643030del, NC_000023.11:g.3643025_3643030del, NC_000023.11:g.3643026_3643030del, NC_000023.11:g.3643028_3643030del, NC_000023.11:g.3643029_3643030del, NC_000023.11:g.3643030del, NC_000023.11:g.3643030dup, NC_000023.11:g.3643029_3643030dup, NC_000023.11:g.3643028_3643030dup, NC_000023.11:g.3643027_3643030dup, NC_000023.11:g.3643026_3643030dup, NC_000023.11:g.3643025_3643030dup, NC_000023.10:g.3561055_3561071del, NC_000023.10:g.3561058_3561071del, NC_000023.10:g.3561059_3561071del, NC_000023.10:g.3561060_3561071del, NC_000023.10:g.3561061_3561071del, NC_000023.10:g.3561062_3561071del, NC_000023.10:g.3561063_3561071del, NC_000023.10:g.3561064_3561071del, NC_000023.10:g.3561065_3561071del, NC_000023.10:g.3561066_3561071del, NC_000023.10:g.3561067_3561071del, NC_000023.10:g.3561069_3561071del, NC_000023.10:g.3561070_3561071del, NC_000023.10:g.3561071del, NC_000023.10:g.3561071dup, NC_000023.10:g.3561070_3561071dup, NC_000023.10:g.3561069_3561071dup, NC_000023.10:g.3561068_3561071dup, NC_000023.10:g.3561067_3561071dup, NC_000023.10:g.3561066_3561071dup, NG_016716.1:g.75614_75630del, NG_016716.1:g.75617_75630del, NG_016716.1:g.75618_75630del, NG_016716.1:g.75619_75630del, NG_016716.1:g.75620_75630del, NG_016716.1:g.75621_75630del, NG_016716.1:g.75622_75630del, NG_016716.1:g.75623_75630del, NG_016716.1:g.75624_75630del, NG_016716.1:g.75625_75630del, NG_016716.1:g.75626_75630del, NG_016716.1:g.75628_75630del, NG_016716.1:g.75629_75630del, NG_016716.1:g.75630del, NG_016716.1:g.75630dup, NG_016716.1:g.75629_75630dup, NG_016716.1:g.75628_75630dup, NG_016716.1:g.75627_75630dup, NG_016716.1:g.75626_75630dup, NG_016716.1:g.75625_75630dup

Select item 14915193525.

rs1491519352 [Homo sapiens]

Variant type:: INS
Alleles:: ->TT,TTATATATATTATATACTATGTGATATATATATT,TTATATATATTATATACTATGTGATATATATT,TTATATATTATATACTATGTG,TTATATATTATATACTATGTGATATATATT,TTATATATTATATACTATGTGATATATATTATATATATTATATACTATGTGATATATATATT [Show Flanks]
Chromosome:: X:3653920 (GRCh38)
X:3571962 (GRCh37)
Canonical SPDI:: NC_000023.11:3653920::TT,NC_000023.11:3653920::TTATATATATTATATACTATGTGATATATATATT,NC_000023.11:3653920::TTATATATATTATATACTATGTGATATATATT,NC_000023.11:3653920::TTATATATTATATACTATGTG,NC_000023.11:3653920::TTATATATTATATACTATGTGATATATATT,NC_000023.11:3653920::TTATATATTATATACTATGTGATATATATTATATATATTATATACTATGTGATATATATATT
Gene:: PRKX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.0145/172 (ALFA)
TT=0.02511/240 (TOMMO)
HGVS:: NC_000023.11:g.3653920_3653921insTT, NC_000023.11:g.3653920_3653921insTTATATATATTATATACTATGTGATATATATATT, NC_000023.11:g.3653920_3653921insTTATATATATTATATACTATGTGATATATATT, NC_000023.11:g.3653920_3653921insTTATATATTATATACTATGTG, NC_000023.11:g.3653920_3653921insTTATATATTATATACTATGTGATATATATT, NC_000023.11:g.3653920_3653921insTTATATATTATATACTATGTGATATATATTATATATATTATATACTATGTGATATATATATT, NC_000023.10:g.3571961_3571962insTT, NC_000023.10:g.3571961_3571962insTTATATATATTATATACTATGTGATATATATATT, NC_000023.10:g.3571961_3571962insTTATATATATTATATACTATGTGATATATATT, NC_000023.10:g.3571961_3571962insTTATATATTATATACTATGTG, NC_000023.10:g.3571961_3571962insTTATATATTATATACTATGTGATATATATT, NC_000023.10:g.3571961_3571962insTTATATATTATATACTATGTGATATATATTATATATATTATATACTATGTGATATATATATT, NG_016716.1:g.64714_64715insAA, NG_016716.1:g.64714_64715insAATATATATATCACATAGTATATAATATATATAA, NG_016716.1:g.64714_64715insAATATATATCACATAGTATATAATATATATAA, NG_016716.1:g.64714_64715insCACATAGTATATAATATATAA, NG_016716.1:g.64714_64715insAATATATATCACATAGTATATAATATATAA, NG_016716.1:g.64714_64715insAATATATATATCACATAGTATATAATATATATAATATATATCACATAGTATATAATATATAA

Select item 14915058766.

rs1491505876 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATTATATAT [Show Flanks]
Chromosome:: X:3653850 (GRCh38)
X:3571892 (GRCh37)
Canonical SPDI:: NC_000023.11:3653850:TATATATATTATATAT:TATATATATTATATATATTATATAT
Gene:: PRKX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATATATATTATATATATTATATAT=0./0 (ALFA)
HGVS:: NC_000023.11:g.3653858_3653866dup, NC_000023.10:g.3571899_3571907dup, NG_016716.1:g.64776_64784dup

Select item 14914958457.

rs1491495845 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGGAGAGAGGAAGGA [Show Flanks]
Chromosome:: X:3637081 (GRCh38)
X:3555123 (GRCh37)
Canonical SPDI:: NC_000023.11:3637081:GGAGGGAGAGAGGAAGGA:GGAGGGAGAGAGGAAGGAGGGAGAGAGGAAGGA
Gene:: PRKX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGAGGGAGAGAGGAAGGAGGGAGAGAGGAAGGA=0./0 (ALFA)
GGAGGGAGAGAGGAA=0.00004/4 (GnomAD)
GGAGGGAGAGAGGAA=0.01118/144 (TOMMO)
HGVS:: NC_000023.11:g.3637085_3637099dup, NC_000023.10:g.3555126_3555140dup, NG_016716.1:g.81539_81553dup

Select item 14914800618.

rs1491480061 has merged into rs1230845031 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:3693946 (GRCh38)
X:3611987 (GRCh37)
Canonical SPDI:: NC_000023.11:3693939:AAAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000023.11:3693939:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000023.11:3693939:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:3693939:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:3693939:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:3693939:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:3693939:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:3693939:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:3693939:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:3693939:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:3693939:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:3693939:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3693939:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3693939:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3693939:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3693939:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3693939:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3693939:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3693939:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3693939:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3693939:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PRKX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000023.11:g.3693946_3693959del, NC_000023.11:g.3693949_3693959del, NC_000023.11:g.3693950_3693959del, NC_000023.11:g.3693951_3693959del, NC_000023.11:g.3693952_3693959del, NC_000023.11:g.3693953_3693959del, NC_000023.11:g.3693954_3693959del, NC_000023.11:g.3693955_3693959del, NC_000023.11:g.3693957_3693959del, NC_000023.11:g.3693958_3693959del, NC_000023.11:g.3693959del, NC_000023.11:g.3693959dup, NC_000023.11:g.3693958_3693959dup, NC_000023.11:g.3693957_3693959dup, NC_000023.11:g.3693956_3693959dup, NC_000023.11:g.3693955_3693959dup, NC_000023.11:g.3693954_3693959dup, NC_000023.11:g.3693953_3693959dup, NC_000023.11:g.3693948_3693959dup, NC_000023.11:g.3693947_3693959dup, NC_000023.11:g.3693946_3693959dup, NC_000023.10:g.3611987_3612000del, NC_000023.10:g.3611990_3612000del, NC_000023.10:g.3611991_3612000del, NC_000023.10:g.3611992_3612000del, NC_000023.10:g.3611993_3612000del, NC_000023.10:g.3611994_3612000del, NC_000023.10:g.3611995_3612000del, NC_000023.10:g.3611996_3612000del, NC_000023.10:g.3611998_3612000del, NC_000023.10:g.3611999_3612000del, NC_000023.10:g.3612000del, NC_000023.10:g.3612000dup, NC_000023.10:g.3611999_3612000dup, NC_000023.10:g.3611998_3612000dup, NC_000023.10:g.3611997_3612000dup, NC_000023.10:g.3611996_3612000dup, NC_000023.10:g.3611995_3612000dup, NC_000023.10:g.3611994_3612000dup, NC_000023.10:g.3611989_3612000dup, NC_000023.10:g.3611988_3612000dup, NC_000023.10:g.3611987_3612000dup, NG_016716.1:g.24682_24695del, NG_016716.1:g.24685_24695del, NG_016716.1:g.24686_24695del, NG_016716.1:g.24687_24695del, NG_016716.1:g.24688_24695del, NG_016716.1:g.24689_24695del, NG_016716.1:g.24690_24695del, NG_016716.1:g.24691_24695del, NG_016716.1:g.24693_24695del, NG_016716.1:g.24694_24695del, NG_016716.1:g.24695del, NG_016716.1:g.24695dup, NG_016716.1:g.24694_24695dup, NG_016716.1:g.24693_24695dup, NG_016716.1:g.24692_24695dup, NG_016716.1:g.24691_24695dup, NG_016716.1:g.24690_24695dup, NG_016716.1:g.24689_24695dup, NG_016716.1:g.24684_24695dup, NG_016716.1:g.24683_24695dup, NG_016716.1:g.24682_24695dup

Select item 14914393219.

rs1491439321 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: X:3666152 (GRCh38)
X:3584193 (GRCh37)
Canonical SPDI:: NC_000023.11:3666151:AT:
Gene:: PRKX (Varview), PRKX-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000023.11:g.3666152_3666153del, NC_000023.10:g.3584193_3584194del, NG_016716.1:g.52482_52483del

Select item 149141308410.

rs1491413084 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: X:3665128 (GRCh38)
X:3583169 (GRCh37)
Canonical SPDI:: NC_000023.11:3665127:AT:
Gene:: PRKX (Varview), PRKX-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.00001/1 (GnomAD)
-=0.000011/3 (TOPMED)
-=0.00054/7 (TOMMO)
HGVS:: NC_000023.11:g.3665128_3665129del, NC_000023.10:g.3583169_3583170del, NG_016716.1:g.53506_53507del

Select item 149141244511.

rs1491412445 has merged into rs58698248 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: X:3648627 (GRCh38)
X:3566668 (GRCh37)
Canonical SPDI:: NC_000023.11:3648606:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000023.11:3648606:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:3648606:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:3648606:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:3648606:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:3648606:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:3648606:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:3648606:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:3648606:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:3648606:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:3648606:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:3648606:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:3648606:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:3648606:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:3648606:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:3648606:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:3648606:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:3648606:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:3648606:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:3648606:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:3648606:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:3648606:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:3648606:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:3648606:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:3648606:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000023.11:3648606:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: PRKX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGTGTG=0./0 (ALFA)
TGTGTGTGTGTGTGTGTG=0.2/8 (GENOME_DK)
HGVS:: NC_000023.11:g.3648607TG[10], NC_000023.11:g.3648607TG[11], NC_000023.11:g.3648607TG[12], NC_000023.11:g.3648607TG[13], NC_000023.11:g.3648607TG[14], NC_000023.11:g.3648607TG[15], NC_000023.11:g.3648607TG[16], NC_000023.11:g.3648607TG[17], NC_000023.11:g.3648607TG[18], NC_000023.11:g.3648607TG[19], NC_000023.11:g.3648607TG[20], NC_000023.11:g.3648607TG[21], NC_000023.11:g.3648607TG[22], NC_000023.11:g.3648607TG[23], NC_000023.11:g.3648607TG[24], NC_000023.11:g.3648607TG[25], NC_000023.11:g.3648607TG[27], NC_000023.11:g.3648607TG[28], NC_000023.11:g.3648607TG[29], NC_000023.11:g.3648607TG[30], NC_000023.11:g.3648607TG[31], NC_000023.11:g.3648607TG[32], NC_000023.11:g.3648607TG[33], NC_000023.11:g.3648607TG[34], NC_000023.11:g.3648607TG[35], NC_000023.11:g.3648607TG[36], NC_000023.10:g.3566648TG[10], NC_000023.10:g.3566648TG[11], NC_000023.10:g.3566648TG[12], NC_000023.10:g.3566648TG[13], NC_000023.10:g.3566648TG[14], NC_000023.10:g.3566648TG[15], NC_000023.10:g.3566648TG[16], NC_000023.10:g.3566648TG[17], NC_000023.10:g.3566648TG[18], NC_000023.10:g.3566648TG[19], NC_000023.10:g.3566648TG[20], NC_000023.10:g.3566648TG[21], NC_000023.10:g.3566648TG[22], NC_000023.10:g.3566648TG[23], NC_000023.10:g.3566648TG[24], NC_000023.10:g.3566648TG[25], NC_000023.10:g.3566648TG[27], NC_000023.10:g.3566648TG[28], NC_000023.10:g.3566648TG[29], NC_000023.10:g.3566648TG[30], NC_000023.10:g.3566648TG[31], NC_000023.10:g.3566648TG[32], NC_000023.10:g.3566648TG[33], NC_000023.10:g.3566648TG[34], NC_000023.10:g.3566648TG[35], NC_000023.10:g.3566648TG[36], NG_016716.1:g.69977CA[10], NG_016716.1:g.69977CA[11], NG_016716.1:g.69977CA[12], NG_016716.1:g.69977CA[13], NG_016716.1:g.69977CA[14], NG_016716.1:g.69977CA[15], NG_016716.1:g.69977CA[16], NG_016716.1:g.69977CA[17], NG_016716.1:g.69977CA[18], NG_016716.1:g.69977CA[19], NG_016716.1:g.69977CA[20], NG_016716.1:g.69977CA[21], NG_016716.1:g.69977CA[22], NG_016716.1:g.69977CA[23], NG_016716.1:g.69977CA[24], NG_016716.1:g.69977CA[25], NG_016716.1:g.69977CA[27], NG_016716.1:g.69977CA[28], NG_016716.1:g.69977CA[29], NG_016716.1:g.69977CA[30], NG_016716.1:g.69977CA[31], NG_016716.1:g.69977CA[32], NG_016716.1:g.69977CA[33], NG_016716.1:g.69977CA[34], NG_016716.1:g.69977CA[35], NG_016716.1:g.69977CA[36]

Select item 149138216112.

rs1491382161 has merged into rs779238300 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT [Show Flanks]
Chromosome:: X:3653886 (GRCh38)
X:3571927 (GRCh37)
Canonical SPDI:: NC_000023.11:3653879:ATATATATAT:ATATAT,NC_000023.11:3653879:ATATATATAT:ATATATAT,NC_000023.11:3653879:ATATATATAT:ATATATATATAT
Gene:: PRKX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATAT=0./0 (ALFA)
-=0.00051/6 (TOMMO)
AT=0.00132/5 (1000Genomes)
HGVS:: NC_000023.11:g.3653880AT[3], NC_000023.11:g.3653880AT[4], NC_000023.11:g.3653880AT[6], NC_000023.10:g.3571921AT[3], NC_000023.10:g.3571921AT[4], NC_000023.10:g.3571921AT[6], NG_016716.1:g.64746AT[3], NG_016716.1:g.64746AT[4], NG_016716.1:g.64746AT[6]

Select item 149137784713.

rs1491377847 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: X:3653829 (GRCh38)
X:3571870 (GRCh37)
Canonical SPDI:: NC_000023.11:3653828:TT:
Gene:: PRKX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000098/1 (TOMMO)
HGVS:: NC_000023.11:g.3653829_3653830del, NC_000023.10:g.3571870_3571871del, NG_016716.1:g.64805_64806del

Select item 149137319114.

rs1491373191 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT [Show Flanks]
Chromosome:: X:3653856 (GRCh38)
X:3571897 (GRCh37)
Canonical SPDI:: NC_000023.11:3653849:ATATATATAT:ATATAT,NC_000023.11:3653849:ATATATATAT:ATATATAT
Gene:: PRKX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATAT=0./0 (ALFA)
-=0.00018/12 (GnomAD)
-=0.00042/2 (1000Genomes)
HGVS:: NC_000023.11:g.3653850AT[3], NC_000023.11:g.3653850AT[4], NC_000023.10:g.3571891AT[3], NC_000023.10:g.3571891AT[4], NG_016716.1:g.64776AT[3], NG_016716.1:g.64776AT[4]

Select item 149136153315.

rs1491361533 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: X:3643004 (GRCh38)
X:3561045 (GRCh37)
Canonical SPDI:: NC_000023.11:3643003:CA:
Gene:: PRKX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00042/5 (ALFA)
HGVS:: NC_000023.11:g.3643004_3643005del, NC_000023.10:g.3561045_3561046del, NG_016716.1:g.75630_75631del

Select item 149134710916.

rs1491347109 has merged into rs1205221732 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:3613865 (GRCh38)
X:3531906 (GRCh37)
Canonical SPDI:: NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:3613854:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PRKX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000023.11:g.3613865_3613880del, NC_000023.11:g.3613866_3613880del, NC_000023.11:g.3613867_3613880del, NC_000023.11:g.3613868_3613880del, NC_000023.11:g.3613869_3613880del, NC_000023.11:g.3613870_3613880del, NC_000023.11:g.3613871_3613880del, NC_000023.11:g.3613872_3613880del, NC_000023.11:g.3613873_3613880del, NC_000023.11:g.3613874_3613880del, NC_000023.11:g.3613875_3613880del, NC_000023.11:g.3613876_3613880del, NC_000023.11:g.3613877_3613880del, NC_000023.11:g.3613878_3613880del, NC_000023.11:g.3613879_3613880del, NC_000023.11:g.3613880del, NC_000023.11:g.3613880dup, NC_000023.11:g.3613879_3613880dup, NC_000023.11:g.3613878_3613880dup, NC_000023.11:g.3613877_3613880dup, NC_000023.11:g.3613876_3613880dup, NC_000023.11:g.3613875_3613880dup, NC_000023.11:g.3613874_3613880dup, NC_000023.11:g.3613873_3613880dup, NC_000023.11:g.3613872_3613880dup, NC_000023.11:g.3613871_3613880dup, NC_000023.11:g.3613870_3613880dup, NC_000023.11:g.3613869_3613880dup, NC_000023.11:g.3613868_3613880dup, NC_000023.11:g.3613867_3613880dup, NC_000023.11:g.3613865_3613880dup, NC_000023.11:g.3613864_3613880dup, NC_000023.11:g.3613863_3613880dup, NC_000023.11:g.3613860_3613880dup, NC_000023.11:g.3613859_3613880dup, NC_000023.11:g.3613858_3613880dup, NC_000023.11:g.3613857_3613880dup, NC_000023.11:g.3613856_3613880dup, NC_000023.11:g.3613855_3613880dup, NC_000023.11:g.3613880_3613881insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.3613880_3613881insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.3613880_3613881insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.3613880_3613881insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.3613880_3613881insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.3613880_3613881insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.3613880_3613881insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.3613880_3613881insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.3613880_3613881insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.3531906_3531921del, NC_000023.10:g.3531907_3531921del, NC_000023.10:g.3531908_3531921del, NC_000023.10:g.3531909_3531921del, NC_000023.10:g.3531910_3531921del, NC_000023.10:g.3531911_3531921del, NC_000023.10:g.3531912_3531921del, NC_000023.10:g.3531913_3531921del, NC_000023.10:g.3531914_3531921del, NC_000023.10:g.3531915_3531921del, NC_000023.10:g.3531916_3531921del, NC_000023.10:g.3531917_3531921del, NC_000023.10:g.3531918_3531921del, NC_000023.10:g.3531919_3531921del, NC_000023.10:g.3531920_3531921del, NC_000023.10:g.3531921del, NC_000023.10:g.3531921dup, NC_000023.10:g.3531920_3531921dup, NC_000023.10:g.3531919_3531921dup, NC_000023.10:g.3531918_3531921dup, NC_000023.10:g.3531917_3531921dup, NC_000023.10:g.3531916_3531921dup, NC_000023.10:g.3531915_3531921dup, NC_000023.10:g.3531914_3531921dup, NC_000023.10:g.3531913_3531921dup, NC_000023.10:g.3531912_3531921dup, NC_000023.10:g.3531911_3531921dup, NC_000023.10:g.3531910_3531921dup, NC_000023.10:g.3531909_3531921dup, NC_000023.10:g.3531908_3531921dup, NC_000023.10:g.3531906_3531921dup, NC_000023.10:g.3531905_3531921dup, NC_000023.10:g.3531904_3531921dup, NC_000023.10:g.3531901_3531921dup, NC_000023.10:g.3531900_3531921dup, NC_000023.10:g.3531899_3531921dup, NC_000023.10:g.3531898_3531921dup, NC_000023.10:g.3531897_3531921dup, NC_000023.10:g.3531896_3531921dup, NC_000023.10:g.3531921_3531922insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.3531921_3531922insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.3531921_3531922insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.3531921_3531922insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.3531921_3531922insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.3531921_3531922insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.3531921_3531922insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.3531921_3531922insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.3531921_3531922insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_016716.1:g.104765_104780del, NG_016716.1:g.104766_104780del, NG_016716.1:g.104767_104780del, NG_016716.1:g.104768_104780del, NG_016716.1:g.104769_104780del, NG_016716.1:g.104770_104780del, NG_016716.1:g.104771_104780del, NG_016716.1:g.104772_104780del, NG_016716.1:g.104773_104780del, NG_016716.1:g.104774_104780del, NG_016716.1:g.104775_104780del, NG_016716.1:g.104776_104780del, NG_016716.1:g.104777_104780del, NG_016716.1:g.104778_104780del, NG_016716.1:g.104779_104780del, NG_016716.1:g.104780del, NG_016716.1:g.104780dup, NG_016716.1:g.104779_104780dup, NG_016716.1:g.104778_104780dup, NG_016716.1:g.104777_104780dup, NG_016716.1:g.104776_104780dup, NG_016716.1:g.104775_104780dup, NG_016716.1:g.104774_104780dup, NG_016716.1:g.104773_104780dup, NG_016716.1:g.104772_104780dup, NG_016716.1:g.104771_104780dup, NG_016716.1:g.104770_104780dup, NG_016716.1:g.104769_104780dup, NG_016716.1:g.104768_104780dup, NG_016716.1:g.104767_104780dup, NG_016716.1:g.104765_104780dup, NG_016716.1:g.104764_104780dup, NG_016716.1:g.104763_104780dup, NG_016716.1:g.104760_104780dup, NG_016716.1:g.104759_104780dup, NG_016716.1:g.104758_104780dup, NG_016716.1:g.104757_104780dup, NG_016716.1:g.104756_104780dup, NG_016716.1:g.104755_104780dup, NG_016716.1:g.104780_104781insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016716.1:g.104780_104781insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016716.1:g.104780_104781insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016716.1:g.104780_104781insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016716.1:g.104780_104781insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016716.1:g.104780_104781insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016716.1:g.104780_104781insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016716.1:g.104780_104781insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016716.1:g.104780_104781insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149134561517.

rs1491345615 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: X:3627392 (GRCh38)
X:3545433 (GRCh37)
Canonical SPDI:: NC_000023.11:3627391:TA:
Gene:: PRKX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000023.11:g.3627392_3627393del, NC_000023.10:g.3545433_3545434del, NG_016716.1:g.91242_91243del

Select item 149134527118.

rs1491345271 has merged into rs60160617 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AA,AAAA [Show Flanks]
Chromosome:: X:3663469 (GRCh38)
X:3581510 (GRCh37)
Canonical SPDI:: NC_000023.11:3663467:AAAAAAA:A,NC_000023.11:3663467:AAAAAAA:AAA,NC_000023.11:3663467:AAAAAAA:AAAAA
Gene:: PRKX (Varview), PRKX-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
HGVS:: NC_000023.11:g.3663469_3663474del, NC_000023.11:g.3663471_3663474del, NC_000023.11:g.3663473_3663474del, NC_000023.10:g.3581510_3581515del, NC_000023.10:g.3581512_3581515del, NC_000023.10:g.3581514_3581515del, NG_016716.1:g.55162_55167del, NG_016716.1:g.55164_55167del, NG_016716.1:g.55166_55167del

Select item 149133433319.

rs1491334333 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGTGTG [Show Flanks]
Chromosome:: X:3648607 (GRCh38)
X:3566649 (GRCh37)
Canonical SPDI:: NC_000023.11:3648607:GTGTG:GTGTGGGTGTG
Gene:: PRKX (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000023.11:g.3648608_3648612GT[2]GGGTGTG[1], NC_000023.10:g.3566649_3566653GT[2]GGGTGTG[1], NG_016716.1:g.70023_70027CA[2]CCCACAC[1]

Select item 149132161620.

rs1491321616 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTGT,CTGTGTGTGTGT [Show Flanks]
Chromosome:: X:3648606 (GRCh38)
X:3566648 (GRCh37)
Canonical SPDI:: NC_000023.11:3648606:T:TCTGT,NC_000023.11:3648606:T:TCTGTGTGTGTGT
Gene:: PRKX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCTGTGTGTGTGT=0./0 (ALFA)
TCTG=0.00009/6 (GnomAD)
HGVS:: NC_000023.11:g.3648607_3648608insCTGT, NC_000023.11:g.3648607_3648608insCTGTGTGTGTGT, NC_000023.10:g.3566648_3566649insCTGT, NC_000023.10:g.3566648_3566649insCTGTGTGTGTGT, NG_016716.1:g.70028_70029insCAGA, NG_016716.1:g.70028AC[5]AGA[1]

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