SNP Links for Gene (Select 57157) - SNP

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Select item 14915779541.

rs1491577954 has merged into rs11442975 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:77890914 (GRCh38)
7:77520231 (GRCh37)
Canonical SPDI:: NC_000007.14:77890904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000007.14:77890904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:77890904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:77890904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:77890904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:77890904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:77890904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:77890904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:77890904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:77890904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:77890904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77890904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77890904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77890904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77890904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77890904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77890904:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PHTF2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.77890914_77890926del, NC_000007.14:g.77890915_77890926del, NC_000007.14:g.77890917_77890926del, NC_000007.14:g.77890918_77890926del, NC_000007.14:g.77890919_77890926del, NC_000007.14:g.77890920_77890926del, NC_000007.14:g.77890922_77890926del, NC_000007.14:g.77890923_77890926del, NC_000007.14:g.77890924_77890926del, NC_000007.14:g.77890925_77890926del, NC_000007.14:g.77890926del, NC_000007.14:g.77890926dup, NC_000007.14:g.77890925_77890926dup, NC_000007.14:g.77890924_77890926dup, NC_000007.14:g.77890923_77890926dup, NC_000007.14:g.77890922_77890926dup, NC_000007.14:g.77890921_77890926dup, NC_000007.13:g.77520231_77520243del, NC_000007.13:g.77520232_77520243del, NC_000007.13:g.77520234_77520243del, NC_000007.13:g.77520235_77520243del, NC_000007.13:g.77520236_77520243del, NC_000007.13:g.77520237_77520243del, NC_000007.13:g.77520239_77520243del, NC_000007.13:g.77520240_77520243del, NC_000007.13:g.77520241_77520243del, NC_000007.13:g.77520242_77520243del, NC_000007.13:g.77520243del, NC_000007.13:g.77520243dup, NC_000007.13:g.77520242_77520243dup, NC_000007.13:g.77520241_77520243dup, NC_000007.13:g.77520240_77520243dup, NC_000007.13:g.77520239_77520243dup, NC_000007.13:g.77520238_77520243dup

Select item 14915775022.

rs1491577502 [Homo sapiens]

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

Select item 14915402543.

rs1491540254 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:77850360 (GRCh38)
7:77479677 (GRCh37)
Canonical SPDI:: NC_000007.14:77850359:CA:
Gene:: PHTF2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.77850360_77850361del, NC_000007.13:g.77479677_77479678del

Select item 14914726234.

rs1491472623 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:77834312 (GRCh38)
7:77463629 (GRCh37)
Canonical SPDI:: NC_000007.14:77834311:CA:
Gene:: PHTF2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00076/9 (ALFA)
HGVS:: NC_000007.14:g.77834312_77834313del, NC_000007.13:g.77463629_77463630del

Select item 14914680265.

rs1491468026 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 7:77820543 (GRCh38)
7:77449861 (GRCh37)
Canonical SPDI:: NC_000007.14:77820543::G
Gene:: PHTF2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000389/7 (TOMMO)
G=0.001512/210 (GnomAD)
G=0.002729/5 (Korea1K)
HGVS:: NC_000007.14:g.77820543_77820544insG, NC_000007.13:g.77449860_77449861insG

Select item 14914565696.

rs1491456569 has merged into rs149254572 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT [Show Flanks]
Chromosome:: 7:77912673 (GRCh38)
7:77541990 (GRCh37)
Canonical SPDI:: NC_000007.14:77912661:TATATATATATAT:TATATATATAT,NC_000007.14:77912661:TATATATATATAT:TATATATATATATAT,NC_000007.14:77912661:TATATATATATAT:TATATATATATATATAT
Gene:: PHTF2 (Varview), LOC124901682 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATAT=0./0 (ALFA)
TA=0.02833/17 (NorthernSweden)
TA=0.03506/157 (Estonian)
TA=0.0511/51 (GoNL)
TA=0.10476/22 (Vietnamese)
TA=0.10738/1799 (TOMMO)
TA=0.1224/224 (Korea1K)
TA=0.13851/694 (1000Genomes)
HGVS:: NC_000007.14:g.77912663AT[5], NC_000007.14:g.77912663AT[7], NC_000007.14:g.77912663AT[8], NC_000007.13:g.77541980AT[5], NC_000007.13:g.77541980AT[7], NC_000007.13:g.77541980AT[8]

Select item 14914268797.

rs1491426879 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,G [Show Flanks]
Chromosome:: 7:77935122 (GRCh38)
7:77564440 (GRCh37)
Canonical SPDI:: NC_000007.14:77935122::A,NC_000007.14:77935122::G
Gene:: PHTF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
A=0.00004/2 (GnomAD)
HGVS:: NC_000007.14:g.77935122_77935123insA, NC_000007.14:g.77935122_77935123insG, NC_000007.13:g.77564439_77564440insA, NC_000007.13:g.77564439_77564440insG

Select item 14913720488.

rs1491372048 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 7:77868322 (GRCh38)
7:77497639 (GRCh37)
Canonical SPDI:: NC_000007.14:77868321:AT:
Gene:: PHTF2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.001433/17 (ALFA)
-=0.001733/223 (GnomAD)
-=0.003748/24 (1000Genomes)
HGVS:: NC_000007.14:g.77868322_77868323del, NC_000007.13:g.77497639_77497640del

Select item 14913709809.

rs1491370980 [Homo sapiens]

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

Select item 149134088110.

rs1491340881 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 7:77870248 (GRCh38)
7:77499566 (GRCh37)
Canonical SPDI:: NC_000007.14:77870248::A
Gene:: PHTF2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.77870248_77870249insA, NC_000007.13:g.77499565_77499566insA

Select item 149131822011.

rs1491318220 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 7:77848627 (GRCh38)
7:77477944 (GRCh37)
Canonical SPDI:: NC_000007.14:77848626:TA:
Gene:: PHTF2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.77848627_77848628del, NC_000007.13:g.77477944_77477945del

Select item 149125418112.

rs1491254181 has merged into rs57283892 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTAAATTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:77841085 (GRCh38)
7:77470402 (GRCh37)
Canonical SPDI:: NC_000007.14:77841075:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000007.14:77841075:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:77841075:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:77841075:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:77841075:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:77841075:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:77841075:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:77841075:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:77841075:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:77841075:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:77841075:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:77841075:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77841075:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77841075:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77841075:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77841075:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77841075:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77841075:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77841075:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77841075:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77841075:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77841075:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77841075:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77841075:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77841075:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77841075:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77841075:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77841075:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAATTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77841075:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77841075:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77841075:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77841075:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77841075:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77841075:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77841075:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77841075:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77841075:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77841075:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77841075:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77841075:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77841075:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77841075:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77841075:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PHTF2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
T=0.325/13 (GENOME_DK)
TTTTTTTTT=0.45148/2261 (1000Genomes)
HGVS:: NC_000007.14:g.77841085_77841095del, NC_000007.14:g.77841086_77841095del, NC_000007.14:g.77841087_77841095del, NC_000007.14:g.77841088_77841095del, NC_000007.14:g.77841089_77841095del, NC_000007.14:g.77841090_77841095del, NC_000007.14:g.77841091_77841095del, NC_000007.14:g.77841092_77841095del, NC_000007.14:g.77841093_77841095del, NC_000007.14:g.77841094_77841095del, NC_000007.14:g.77841095del, NC_000007.14:g.77841095dup, NC_000007.14:g.77841094_77841095dup, NC_000007.14:g.77841093_77841095dup, NC_000007.14:g.77841092_77841095dup, NC_000007.14:g.77841091_77841095dup, NC_000007.14:g.77841090_77841095dup, NC_000007.14:g.77841089_77841095dup, NC_000007.14:g.77841088_77841095dup, NC_000007.14:g.77841087_77841095dup, NC_000007.14:g.77841086_77841095dup, NC_000007.14:g.77841085_77841095dup, NC_000007.14:g.77841084_77841095dup, NC_000007.14:g.77841083_77841095dup, NC_000007.14:g.77841082_77841095dup, NC_000007.14:g.77841081_77841095dup, NC_000007.14:g.77841080_77841095dup, NC_000007.14:g.77841076_77841095T[36]AAATTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.77841077_77841095dup, NC_000007.14:g.77841095_77841096insTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.77841095_77841096insTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.77841095_77841096insTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.77841095_77841096insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.77841095_77841096insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.77841095_77841096insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.77841095_77841096insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.77841095_77841096insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.77841095_77841096insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.77841095_77841096insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.77841095_77841096insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.77841095_77841096insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.77841095_77841096insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.77841095_77841096insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.77470402_77470412del, NC_000007.13:g.77470403_77470412del, NC_000007.13:g.77470404_77470412del, NC_000007.13:g.77470405_77470412del, NC_000007.13:g.77470406_77470412del, NC_000007.13:g.77470407_77470412del, NC_000007.13:g.77470408_77470412del, NC_000007.13:g.77470409_77470412del, NC_000007.13:g.77470410_77470412del, NC_000007.13:g.77470411_77470412del, NC_000007.13:g.77470412del, NC_000007.13:g.77470412dup, NC_000007.13:g.77470411_77470412dup, NC_000007.13:g.77470410_77470412dup, NC_000007.13:g.77470409_77470412dup, NC_000007.13:g.77470408_77470412dup, NC_000007.13:g.77470407_77470412dup, NC_000007.13:g.77470406_77470412dup, NC_000007.13:g.77470405_77470412dup, NC_000007.13:g.77470404_77470412dup, NC_000007.13:g.77470403_77470412dup, NC_000007.13:g.77470402_77470412dup, NC_000007.13:g.77470401_77470412dup, NC_000007.13:g.77470400_77470412dup, NC_000007.13:g.77470399_77470412dup, NC_000007.13:g.77470398_77470412dup, NC_000007.13:g.77470397_77470412dup, NC_000007.13:g.77470393_77470412T[36]AAATTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.77470394_77470412dup, NC_000007.13:g.77470412_77470413insTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.77470412_77470413insTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.77470412_77470413insTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.77470412_77470413insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.77470412_77470413insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.77470412_77470413insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.77470412_77470413insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.77470412_77470413insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.77470412_77470413insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.77470412_77470413insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.77470412_77470413insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.77470412_77470413insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.77470412_77470413insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.77470412_77470413insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149125058113.

rs1491250581 has merged into rs58290945 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:77925508 (GRCh38)
7:77554825 (GRCh37)
Canonical SPDI:: NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77925495:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PHTF2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.1/4 (GENOME_DK)
HGVS:: NC_000007.14:g.77925508_77925526del, NC_000007.14:g.77925509_77925526del, NC_000007.14:g.77925510_77925526del, NC_000007.14:g.77925511_77925526del, NC_000007.14:g.77925512_77925526del, NC_000007.14:g.77925513_77925526del, NC_000007.14:g.77925514_77925526del, NC_000007.14:g.77925515_77925526del, NC_000007.14:g.77925516_77925526del, NC_000007.14:g.77925517_77925526del, NC_000007.14:g.77925518_77925526del, NC_000007.14:g.77925519_77925526del, NC_000007.14:g.77925520_77925526del, NC_000007.14:g.77925521_77925526del, NC_000007.14:g.77925522_77925526del, NC_000007.14:g.77925523_77925526del, NC_000007.14:g.77925524_77925526del, NC_000007.14:g.77925525_77925526del, NC_000007.14:g.77925526del, NC_000007.14:g.77925526dup, NC_000007.14:g.77925525_77925526dup, NC_000007.14:g.77925524_77925526dup, NC_000007.14:g.77925523_77925526dup, NC_000007.14:g.77925522_77925526dup, NC_000007.14:g.77925521_77925526dup, NC_000007.14:g.77925520_77925526dup, NC_000007.14:g.77925519_77925526dup, NC_000007.14:g.77925518_77925526dup, NC_000007.14:g.77925517_77925526dup, NC_000007.14:g.77925516_77925526dup, NC_000007.14:g.77925515_77925526dup, NC_000007.14:g.77925514_77925526dup, NC_000007.14:g.77925513_77925526dup, NC_000007.14:g.77925512_77925526dup, NC_000007.14:g.77925511_77925526dup, NC_000007.14:g.77925510_77925526dup, NC_000007.14:g.77925509_77925526dup, NC_000007.14:g.77925508_77925526dup, NC_000007.14:g.77925507_77925526dup, NC_000007.14:g.77925506_77925526dup, NC_000007.14:g.77925505_77925526dup, NC_000007.14:g.77925504_77925526dup, NC_000007.14:g.77925503_77925526dup, NC_000007.14:g.77925502_77925526dup, NC_000007.14:g.77925501_77925526dup, NC_000007.14:g.77925500_77925526dup, NC_000007.14:g.77925499_77925526dup, NC_000007.14:g.77925498_77925526dup, NC_000007.14:g.77925497_77925526dup, NC_000007.14:g.77925496_77925526dup, NC_000007.14:g.77925526_77925527insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.77925526_77925527insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.77925526_77925527insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.77925526_77925527insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.77925526_77925527insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.77554825_77554843del, NC_000007.13:g.77554826_77554843del, NC_000007.13:g.77554827_77554843del, NC_000007.13:g.77554828_77554843del, NC_000007.13:g.77554829_77554843del, NC_000007.13:g.77554830_77554843del, NC_000007.13:g.77554831_77554843del, NC_000007.13:g.77554832_77554843del, NC_000007.13:g.77554833_77554843del, NC_000007.13:g.77554834_77554843del, NC_000007.13:g.77554835_77554843del, NC_000007.13:g.77554836_77554843del, NC_000007.13:g.77554837_77554843del, NC_000007.13:g.77554838_77554843del, NC_000007.13:g.77554839_77554843del, NC_000007.13:g.77554840_77554843del, NC_000007.13:g.77554841_77554843del, NC_000007.13:g.77554842_77554843del, NC_000007.13:g.77554843del, NC_000007.13:g.77554843dup, NC_000007.13:g.77554842_77554843dup, NC_000007.13:g.77554841_77554843dup, NC_000007.13:g.77554840_77554843dup, NC_000007.13:g.77554839_77554843dup, NC_000007.13:g.77554838_77554843dup, NC_000007.13:g.77554837_77554843dup, NC_000007.13:g.77554836_77554843dup, NC_000007.13:g.77554835_77554843dup, NC_000007.13:g.77554834_77554843dup, NC_000007.13:g.77554833_77554843dup, NC_000007.13:g.77554832_77554843dup, NC_000007.13:g.77554831_77554843dup, NC_000007.13:g.77554830_77554843dup, NC_000007.13:g.77554829_77554843dup, NC_000007.13:g.77554828_77554843dup, NC_000007.13:g.77554827_77554843dup, NC_000007.13:g.77554826_77554843dup, NC_000007.13:g.77554825_77554843dup, NC_000007.13:g.77554824_77554843dup, NC_000007.13:g.77554823_77554843dup, NC_000007.13:g.77554822_77554843dup, NC_000007.13:g.77554821_77554843dup, NC_000007.13:g.77554820_77554843dup, NC_000007.13:g.77554819_77554843dup, NC_000007.13:g.77554818_77554843dup, NC_000007.13:g.77554817_77554843dup, NC_000007.13:g.77554816_77554843dup, NC_000007.13:g.77554815_77554843dup, NC_000007.13:g.77554814_77554843dup, NC_000007.13:g.77554813_77554843dup, NC_000007.13:g.77554843_77554844insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.77554843_77554844insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.77554843_77554844insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.77554843_77554844insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.77554843_77554844insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149124924014.

rs1491249240 has merged into rs35903374 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTGTTTTTTGTTTTTTTTTAACATCTTTATTCTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:77870259 (GRCh38)
7:77499576 (GRCh37)
Canonical SPDI:: NC_000007.14:77870247:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:77870247:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:77870247:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:77870247:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:77870247:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:77870247:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:77870247:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:77870247:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTGTTTTTTTTTAACATCTTTATTCTTTTTTTTTTTTTTTTTTTTTT
Gene:: PHTF2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.17057/102 (NorthernSweden)
-=0.225/9 (GENOME_DK)
HGVS:: NC_000007.14:g.77870259_77870261del, NC_000007.14:g.77870260_77870261del, NC_000007.14:g.77870261del, NC_000007.14:g.77870261dup, NC_000007.14:g.77870260_77870261dup, NC_000007.14:g.77870259_77870261dup, NC_000007.14:g.77870261_77870262insTTTTTTTTTTTTTTT, NC_000007.14:g.77870248_77870261T[30]GTTTTTT[2]TTTAACATCTTTATTCTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.77499576_77499578del, NC_000007.13:g.77499577_77499578del, NC_000007.13:g.77499578del, NC_000007.13:g.77499578dup, NC_000007.13:g.77499577_77499578dup, NC_000007.13:g.77499576_77499578dup, NC_000007.13:g.77499578_77499579insTTTTTTTTTTTTTTT, NC_000007.13:g.77499565_77499578T[30]GTTTTTT[2]TTTAACATCTTTATTCTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 149123615315.

rs1491236153 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 7:77927224 (GRCh38)
7:77556542 (GRCh37)
Canonical SPDI:: NC_000007.14:77927224::C
Gene:: PHTF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.00005/6 (GnomAD)
HGVS:: NC_000007.14:g.77927224_77927225insC, NC_000007.13:g.77556541_77556542insC

Select item 149122783616.

rs1491227836 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 7:77935129 (GRCh38)
7:77564447 (GRCh37)
Canonical SPDI:: NC_000007.14:77935129::A
Gene:: PHTF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00306/43 (ALFA)
A=0.000036/1 (TOMMO)
A=0.004613/1221 (TOPMED)
A=0.005063/587 (GnomAD)
HGVS:: NC_000007.14:g.77935129_77935130insA, NC_000007.13:g.77564446_77564447insA

Select item 149122580917.

rs1491225809 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 7:77848627 (GRCh38)
7:77477945 (GRCh37)
Canonical SPDI:: NC_000007.14:77848627::C
Gene:: PHTF2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000084/1 (ALFA)
C=0.000026/7 (TOPMED)
HGVS:: NC_000007.14:g.77848627_77848628insC, NC_000007.13:g.77477944_77477945insC

Select item 149122196818.

rs1491221968 has merged into rs71082789 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:77850371 (GRCh38)
7:77479688 (GRCh37)
Canonical SPDI:: NC_000007.14:77850360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:77850360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:77850360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:77850360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:77850360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:77850360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:77850360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:77850360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:77850360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:77850360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:77850360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:77850360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77850360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77850360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77850360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77850360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77850360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77850360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77850360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77850360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77850360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77850360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77850360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77850360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77850360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77850360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77850360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77850360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77850360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77850360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77850360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77850360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77850360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77850360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77850360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77850360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77850360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77850360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:77850360:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PHTF2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.77850371_77850385del, NC_000007.14:g.77850372_77850385del, NC_000007.14:g.77850373_77850385del, NC_000007.14:g.77850374_77850385del, NC_000007.14:g.77850375_77850385del, NC_000007.14:g.77850376_77850385del, NC_000007.14:g.77850377_77850385del, NC_000007.14:g.77850378_77850385del, NC_000007.14:g.77850379_77850385del, NC_000007.14:g.77850380_77850385del, NC_000007.14:g.77850381_77850385del, NC_000007.14:g.77850382_77850385del, NC_000007.14:g.77850383_77850385del, NC_000007.14:g.77850384_77850385del, NC_000007.14:g.77850385del, NC_000007.14:g.77850385dup, NC_000007.14:g.77850384_77850385dup, NC_000007.14:g.77850383_77850385dup, NC_000007.14:g.77850382_77850385dup, NC_000007.14:g.77850381_77850385dup, NC_000007.14:g.77850380_77850385dup, NC_000007.14:g.77850379_77850385dup, NC_000007.14:g.77850378_77850385dup, NC_000007.14:g.77850377_77850385dup, NC_000007.14:g.77850376_77850385dup, NC_000007.14:g.77850375_77850385dup, NC_000007.14:g.77850374_77850385dup, NC_000007.14:g.77850373_77850385dup, NC_000007.14:g.77850372_77850385dup, NC_000007.14:g.77850371_77850385dup, NC_000007.14:g.77850370_77850385dup, NC_000007.14:g.77850369_77850385dup, NC_000007.14:g.77850368_77850385dup, NC_000007.14:g.77850367_77850385dup, NC_000007.14:g.77850366_77850385dup, NC_000007.14:g.77850365_77850385dup, NC_000007.14:g.77850363_77850385dup, NC_000007.14:g.77850385_77850386insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.77850385_77850386insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.77479688_77479702del, NC_000007.13:g.77479689_77479702del, NC_000007.13:g.77479690_77479702del, NC_000007.13:g.77479691_77479702del, NC_000007.13:g.77479692_77479702del, NC_000007.13:g.77479693_77479702del, NC_000007.13:g.77479694_77479702del, NC_000007.13:g.77479695_77479702del, NC_000007.13:g.77479696_77479702del, NC_000007.13:g.77479697_77479702del, NC_000007.13:g.77479698_77479702del, NC_000007.13:g.77479699_77479702del, NC_000007.13:g.77479700_77479702del, NC_000007.13:g.77479701_77479702del, NC_000007.13:g.77479702del, NC_000007.13:g.77479702dup, NC_000007.13:g.77479701_77479702dup, NC_000007.13:g.77479700_77479702dup, NC_000007.13:g.77479699_77479702dup, NC_000007.13:g.77479698_77479702dup, NC_000007.13:g.77479697_77479702dup, NC_000007.13:g.77479696_77479702dup, NC_000007.13:g.77479695_77479702dup, NC_000007.13:g.77479694_77479702dup, NC_000007.13:g.77479693_77479702dup, NC_000007.13:g.77479692_77479702dup, NC_000007.13:g.77479691_77479702dup, NC_000007.13:g.77479690_77479702dup, NC_000007.13:g.77479689_77479702dup, NC_000007.13:g.77479688_77479702dup, NC_000007.13:g.77479687_77479702dup, NC_000007.13:g.77479686_77479702dup, NC_000007.13:g.77479685_77479702dup, NC_000007.13:g.77479684_77479702dup, NC_000007.13:g.77479683_77479702dup, NC_000007.13:g.77479682_77479702dup, NC_000007.13:g.77479680_77479702dup, NC_000007.13:g.77479702_77479703insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.77479702_77479703insAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149119985419.

rs1491199854 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 7:77927225 (GRCh38)
7:77556542 (GRCh37)
Canonical SPDI:: NC_000007.14:77927223:AAA:A
Gene:: PHTF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.77927225_77927226del, NC_000007.13:g.77556542_77556543del

Select item 149117538520.

rs1491175385 has merged into rs1481641670 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA [Show Flanks]
Chromosome:: 7:77935140 (GRCh38)
7:77564457 (GRCh37)
Canonical SPDI:: NC_000007.14:77935129:CACACACACACACA:CACACACACA,NC_000007.14:77935129:CACACACACACACA:CACACACACACA,NC_000007.14:77935129:CACACACACACACA:CACACACACACACACA
Gene:: PHTF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACA=0./0 (ALFA)
CA=0.26298/1317 (1000Genomes)
CA=0.31558/5242 (TOMMO)
CA=0.40203/238 (NorthernSweden)
HGVS:: NC_000007.14:g.77935130CA[5], NC_000007.14:g.77935130CA[6], NC_000007.14:g.77935130CA[8], NC_000007.13:g.77564447CA[5], NC_000007.13:g.77564447CA[6], NC_000007.13:g.77564447CA[8]

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