SNP Links for Gene (Select 57001) - SNP

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Select item 14915888491.

rs1491588849 has merged into rs60648502 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC [Show Flanks]
Chromosome:: 7:97146121 (GRCh38)
7:96775433 (GRCh37)
Canonical SPDI:: NC_000007.14:97146113:CCCCCCCCC:CCCCCCC,NC_000007.14:97146113:CCCCCCCCC:CCCCCCCC,NC_000007.14:97146113:CCCCCCCCC:CCCCCCCCCC,NC_000007.14:97146113:CCCCCCCCC:CCCCCCCCCCC
Gene:: SDHAF3 (Varview), LOC107984034 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCC=0./0 (ALFA)
-=0.367089/1566 (Estonian)
-=0.370005/1426 (ALSPAC)
-=0.37082/1375 (TWINSUK)
-=0.431849/114306 (TOPMED)
-=0.437101/2189 (1000Genomes)
HGVS:: NC_000007.14:g.97146121_97146122del, NC_000007.14:g.97146122del, NC_000007.14:g.97146122dup, NC_000007.14:g.97146121_97146122dup, NC_000007.13:g.96775433_96775434del, NC_000007.13:g.96775434del, NC_000007.13:g.96775434dup, NC_000007.13:g.96775433_96775434dup

Select item 14915591202.

rs1491559120 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 7:97118520 (GRCh38)
7:96747832 (GRCh37)
Canonical SPDI:: NC_000007.14:97118518:AGA:A
Gene:: SDHAF3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.97118520_97118521del, NC_000007.13:g.96747832_96747833del

Select item 14915224643.

rs1491522464 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 7:97130270 (GRCh38)
7:96759582 (GRCh37)
Canonical SPDI:: NC_000007.14:97130269:TA:
Gene:: SDHAF3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000011/1 (GnomAD)
HGVS:: NC_000007.14:g.97130270_97130271del, NC_000007.13:g.96759582_96759583del

Select item 14915024464.

rs1491502446 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 7:97135669 (GRCh38)
7:96764982 (GRCh37)
Canonical SPDI:: NC_000007.14:97135669:A:ACA
Gene:: SDHAF3 (Varview), LOC107984034 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
HGVS:: NC_000007.14:g.97135670_97135671insCA, NC_000007.13:g.96764982_96764983insCA

Select item 14915018925.

rs1491501892 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 7:97166745 (GRCh38)
7:96796058 (GRCh37)
Canonical SPDI:: NC_000007.14:97166745::T
Gene:: SDHAF3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
HGVS:: NC_000007.14:g.97166745_97166746insT, NC_000007.13:g.96796057_96796058insT

Select item 14914922986.

rs1491492298 has merged into rs56154838 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:97135695 (GRCh38)
7:96765007 (GRCh37)
Canonical SPDI:: NC_000007.14:97135682:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:97135682:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:97135682:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:97135682:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:97135682:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:97135682:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:97135682:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:97135682:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:97135682:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:97135682:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:97135682:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:97135682:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:97135682:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:97135682:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SDHAF3 (Varview), LOC107984034 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.97135695_97135703del, NC_000007.14:g.97135697_97135703del, NC_000007.14:g.97135698_97135703del, NC_000007.14:g.97135699_97135703del, NC_000007.14:g.97135700_97135703del, NC_000007.14:g.97135701_97135703del, NC_000007.14:g.97135702_97135703del, NC_000007.14:g.97135703del, NC_000007.14:g.97135703dup, NC_000007.14:g.97135702_97135703dup, NC_000007.14:g.97135701_97135703dup, NC_000007.14:g.97135700_97135703dup, NC_000007.14:g.97135699_97135703dup, NC_000007.14:g.97135698_97135703dup, NC_000007.13:g.96765007_96765015del, NC_000007.13:g.96765009_96765015del, NC_000007.13:g.96765010_96765015del, NC_000007.13:g.96765011_96765015del, NC_000007.13:g.96765012_96765015del, NC_000007.13:g.96765013_96765015del, NC_000007.13:g.96765014_96765015del, NC_000007.13:g.96765015del, NC_000007.13:g.96765015dup, NC_000007.13:g.96765014_96765015dup, NC_000007.13:g.96765013_96765015dup, NC_000007.13:g.96765012_96765015dup, NC_000007.13:g.96765011_96765015dup, NC_000007.13:g.96765010_96765015dup

Select item 14914878107.

rs1491487810 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTAT,GTATAT,GTATATAT,GTATATATATAT,GTATATATATATAT,GTATATATATATATAT,GTGTAT,GTGTATAT,GTGTATATATATATAT,GTGTATATATATATATAT,GTGTATATATATATATATAT,GTGTGTAT,GTGTGTATAT,GTGTGTATATATATATATAT,GTGTGTATATATATATATATAT,GTGTGTGTAT,GTGTGTGTGTAT [Show Flanks]
Chromosome:: 7:97135668 (GRCh38)
7:96764981 (GRCh37)
Canonical SPDI:: NC_000007.14:97135668:T:TGTAT,NC_000007.14:97135668:T:TGTATAT,NC_000007.14:97135668:T:TGTATATAT,NC_000007.14:97135668:T:TGTATATATATAT,NC_000007.14:97135668:T:TGTATATATATATAT,NC_000007.14:97135668:T:TGTATATATATATATAT,NC_000007.14:97135668:T:TGTGTAT,NC_000007.14:97135668:T:TGTGTATAT,NC_000007.14:97135668:T:TGTGTATATATATATAT,NC_000007.14:97135668:T:TGTGTATATATATATATAT,NC_000007.14:97135668:T:TGTGTATATATATATATATAT,NC_000007.14:97135668:T:TGTGTGTAT,NC_000007.14:97135668:T:TGTGTGTATAT,NC_000007.14:97135668:T:TGTGTGTATATATATATATAT,NC_000007.14:97135668:T:TGTGTGTATATATATATATATAT,NC_000007.14:97135668:T:TGTGTGTGTAT,NC_000007.14:97135668:T:TGTGTGTGTGTAT
Gene:: SDHAF3 (Varview), LOC107984034 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTATAT=0./0 (ALFA)
TGTA=0.00004/1 (TOMMO)
HGVS:: NC_000007.14:g.97135669_97135670insGTAT, NC_000007.14:g.97135669_97135670insGTATAT, NC_000007.14:g.97135669_97135670insGTATATAT, NC_000007.14:g.97135669_97135670insGTATATATATAT, NC_000007.14:g.97135669_97135670insGTATATATATATAT, NC_000007.14:g.97135669_97135670insGTATATATATATATAT, NC_000007.14:g.97135669TG[2]TAT[1], NC_000007.14:g.97135669TG[2]TA[2]T[1], NC_000007.14:g.97135669TG[2]TA[6]T[1], NC_000007.14:g.97135669TG[2]TA[7]T[1], NC_000007.14:g.97135669TG[2]TA[8]T[1], NC_000007.14:g.97135669TG[3]TAT[1], NC_000007.14:g.97135669TG[3]TA[2]T[1], NC_000007.14:g.97135669TG[3]TA[7]T[1], NC_000007.14:g.97135669TG[3]TA[8]T[1], NC_000007.14:g.97135669TG[4]TAT[1], NC_000007.14:g.97135669TG[5]TAT[1], NC_000007.13:g.96764981_96764982insGTAT, NC_000007.13:g.96764981_96764982insGTATAT, NC_000007.13:g.96764981_96764982insGTATATAT, NC_000007.13:g.96764981_96764982insGTATATATATAT, NC_000007.13:g.96764981_96764982insGTATATATATATAT, NC_000007.13:g.96764981_96764982insGTATATATATATATAT, NC_000007.13:g.96764981TG[2]TAT[1], NC_000007.13:g.96764981TG[2]TA[2]T[1], NC_000007.13:g.96764981TG[2]TA[6]T[1], NC_000007.13:g.96764981TG[2]TA[7]T[1], NC_000007.13:g.96764981TG[2]TA[8]T[1], NC_000007.13:g.96764981TG[3]TAT[1], NC_000007.13:g.96764981TG[3]TA[2]T[1], NC_000007.13:g.96764981TG[3]TA[7]T[1], NC_000007.13:g.96764981TG[3]TA[8]T[1], NC_000007.13:g.96764981TG[4]TAT[1], NC_000007.13:g.96764981TG[5]TAT[1]

Select item 14914587208.

rs1491458720 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 7:97118519 (GRCh38)
7:96747832 (GRCh37)
Canonical SPDI:: NC_000007.14:97118519:G:GG
Gene:: SDHAF3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000007.14:g.97118520dup, NC_000007.13:g.96747832dup

Select item 14914230649.

rs1491423064 has merged into rs34446320 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT,ATATATAT,ATATATATATATATAT,ATATATATATATATATAT [Show Flanks]
Chromosome:: 7:97135682 (GRCh38)
7:96764994 (GRCh37)
Canonical SPDI:: NC_000007.14:97135668:TATATATATATATAT:TATATATATATAT,NC_000007.14:97135668:TATATATATATATAT:TATATATATATATATAT,NC_000007.14:97135668:TATATATATATATAT:TATATATATATATATATAT,NC_000007.14:97135668:TATATATATATATAT:TATATATATATATATATATAT,NC_000007.14:97135668:TATATATATATATAT:TATATATATATATATATATATATATATAT,NC_000007.14:97135668:TATATATATATATAT:TATATATATATATATATATATATATATATAT
Gene:: SDHAF3 (Varview), LOC107984034 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATAT=0./0 (ALFA)
HGVS:: NC_000007.14:g.97135670AT[6], NC_000007.14:g.97135670AT[8], NC_000007.14:g.97135670AT[9], NC_000007.14:g.97135670AT[10], NC_000007.14:g.97135670AT[14], NC_000007.14:g.97135670AT[15], NC_000007.13:g.96764982AT[6], NC_000007.13:g.96764982AT[8], NC_000007.13:g.96764982AT[9], NC_000007.13:g.96764982AT[10], NC_000007.13:g.96764982AT[14], NC_000007.13:g.96764982AT[15]

Select item 149141436610.

rs1491414366 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA [Show Flanks]
Chromosome:: 7:97143702 (GRCh38)
7:96773014 (GRCh37)
Canonical SPDI:: NC_000007.14:97143699:TATA:TA,NC_000007.14:97143699:TATA:TATATA
Gene:: SDHAF3 (Varview), LOC107984034 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000156/1 (1000Genomes)
-=0.000259/1 (ALSPAC)
-=0.002157/8 (TWINSUK)
HGVS:: NC_000007.14:g.97143700TA[1], NC_000007.14:g.97143700TA[3], NC_000007.13:g.96773012TA[1], NC_000007.13:g.96773012TA[3]

Select item 149139193311.

rs1491391933 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>- [Show Flanks]
Chromosome:: 7:97166746 (GRCh38)
7:96796058 (GRCh37)
Canonical SPDI:: NC_000007.14:97166744:GCG:G
Gene:: SDHAF3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
-=0.000015/2 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000007.14:g.97166746_97166747del, NC_000007.13:g.96796058_96796059del

Select item 149137964912.

rs1491379649 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGTGTGT,GTGTGTGTGT [Show Flanks]
Chromosome:: 7:97135579 (GRCh38)
7:96764892 (GRCh37)
Canonical SPDI:: NC_000007.14:97135579:T:TGTGTGTGT,NC_000007.14:97135579:T:TGTGTGTGTGT
Gene:: SDHAF3 (Varview), LOC107984034 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000007.14:g.97135581GT[4], NC_000007.14:g.97135581GT[5], NC_000007.13:g.96764893GT[4], NC_000007.13:g.96764893GT[5], NG_032248.1:g.83CA[4], NG_032248.1:g.83CA[5]

Select item 149135872313.

rs1491358723 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATATATATATATATATT,ATATATATATATATATTTTT,ATATATATATATATTTT,ATATATATATATATTTTT,ATATATATATT,ATATATATT,ATATATT,ATATATTTT,ATATT,ATATTT,ATATTTT,ATATTTTT,ATT,ATTT,ATTTT [Show Flanks]
Chromosome:: 7:97135682 (GRCh38)
7:96764995 (GRCh37)
Canonical SPDI:: NC_000007.14:97135682:T:TATATATATATATATATT,NC_000007.14:97135682:T:TATATATATATATATATTTTT,NC_000007.14:97135682:T:TATATATATATATATTTT,NC_000007.14:97135682:T:TATATATATATATATTTTT,NC_000007.14:97135682:T:TATATATATATT,NC_000007.14:97135682:T:TATATATATT,NC_000007.14:97135682:T:TATATATT,NC_000007.14:97135682:T:TATATATTTT,NC_000007.14:97135682:T:TATATT,NC_000007.14:97135682:T:TATATTT,NC_000007.14:97135682:T:TATATTTT,NC_000007.14:97135682:T:TATATTTTT,NC_000007.14:97135682:T:TATT,NC_000007.14:97135682:T:TATTT,NC_000007.14:97135682:T:TATTTT
Gene:: SDHAF3 (Varview), LOC107984034 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.97135683TA[8]TT[1], NC_000007.14:g.97135683TA[8]T[5], NC_000007.14:g.97135683TA[7]T[4], NC_000007.14:g.97135683TA[7]T[5], NC_000007.14:g.97135683TA[5]TT[1], NC_000007.14:g.97135683TA[4]TT[1], NC_000007.14:g.97135683TA[3]TT[1], NC_000007.14:g.97135683TA[3]T[4], NC_000007.14:g.97135683TA[2]TT[1], NC_000007.14:g.97135683TA[2]TTT[1], NC_000007.14:g.97135683TA[2]T[4], NC_000007.14:g.97135683TA[2]T[5], NC_000007.14:g.97135683_97135684insATT, NC_000007.14:g.97135683_97135684insATTT, NC_000007.14:g.97135683_97135684insATTTT, NC_000007.13:g.96764995TA[8]TT[1], NC_000007.13:g.96764995TA[8]T[5], NC_000007.13:g.96764995TA[7]T[4], NC_000007.13:g.96764995TA[7]T[5], NC_000007.13:g.96764995TA[5]TT[1], NC_000007.13:g.96764995TA[4]TT[1], NC_000007.13:g.96764995TA[3]TT[1], NC_000007.13:g.96764995TA[3]T[4], NC_000007.13:g.96764995TA[2]TT[1], NC_000007.13:g.96764995TA[2]TTT[1], NC_000007.13:g.96764995TA[2]T[4], NC_000007.13:g.96764995TA[2]T[5], NC_000007.13:g.96764995_96764996insATT, NC_000007.13:g.96764995_96764996insATTT, NC_000007.13:g.96764995_96764996insATTTT

Select item 149134029814.

rs1491340298 has merged into rs11410661 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 7:97130284 (GRCh38)
7:96759596 (GRCh37)
Canonical SPDI:: NC_000007.14:97130270:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:97130270:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:97130270:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:97130270:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:97130270:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:97130270:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:97130270:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:97130270:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: SDHAF3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.97130284_97130287del, NC_000007.14:g.97130285_97130287del, NC_000007.14:g.97130286_97130287del, NC_000007.14:g.97130287del, NC_000007.14:g.97130287dup, NC_000007.14:g.97130286_97130287dup, NC_000007.14:g.97130285_97130287dup, NC_000007.14:g.97130284_97130287dup, NC_000007.13:g.96759596_96759599del, NC_000007.13:g.96759597_96759599del, NC_000007.13:g.96759598_96759599del, NC_000007.13:g.96759599del, NC_000007.13:g.96759599dup, NC_000007.13:g.96759598_96759599dup, NC_000007.13:g.96759597_96759599dup, NC_000007.13:g.96759596_96759599dup

Select item 149130451115.

rs1491304511 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 7:97143665 (GRCh38)
7:96772977 (GRCh37)
Canonical SPDI:: NC_000007.14:97143664:CT:
Gene:: SDHAF3 (Varview), LOC107984034 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000422/5 (ALFA)
-=0.000749/78 (GnomAD)
HGVS:: NC_000007.14:g.97143665_97143666del, NC_000007.13:g.96772977_96772978del

Select item 149129061316.

rs1491290613 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 7:97135581 (GRCh38)
7:96764893 (GRCh37)
Canonical SPDI:: NC_000007.14:97135578:ATAT:AT,NC_000007.14:97135578:ATAT:ATATAT
Gene:: SDHAF3 (Varview), LOC107984034 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATAT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000036/1 (TOMMO)
-=0.000039/4 (GnomAD)
HGVS:: NC_000007.14:g.97135579AT[1], NC_000007.14:g.97135579AT[3], NC_000007.13:g.96764891AT[1], NC_000007.13:g.96764891AT[3], NG_032248.1:g.80AT[1], NG_032248.1:g.80AT[3]

Select item 149128660717.

rs1491286607 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 7:97163187 (GRCh38)
7:96792499 (GRCh37)
Canonical SPDI:: NC_000007.14:97163186:TA:
Gene:: SDHAF3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00067/3 (ALFA)
-=0.00039/7 (TOMMO)
HGVS:: NC_000007.14:g.97163187_97163188del, NC_000007.13:g.96792499_96792500del

Select item 149116282718.

rs1491162827 has merged into rs3029495 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 7:97143679 (GRCh38)
7:96772991 (GRCh37)
Canonical SPDI:: NC_000007.14:97143665:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000007.14:97143665:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000007.14:97143665:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000007.14:97143665:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000007.14:97143665:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:97143665:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:97143665:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:97143665:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:97143665:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:97143665:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:97143665:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:97143665:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:97143665:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:97143665:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:97143665:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:97143665:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:97143665:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:97143665:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:97143665:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:97143665:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: SDHAF3 (Varview), LOC107984034 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.274/1056 (ALSPAC)
HGVS:: NC_000007.14:g.97143667GT[6], NC_000007.14:g.97143667GT[7], NC_000007.14:g.97143667GT[9], NC_000007.14:g.97143667GT[10], NC_000007.14:g.97143667GT[11], NC_000007.14:g.97143667GT[12], NC_000007.14:g.97143667GT[13], NC_000007.14:g.97143667GT[14], NC_000007.14:g.97143667GT[15], NC_000007.14:g.97143667GT[16], NC_000007.14:g.97143667GT[18], NC_000007.14:g.97143667GT[19], NC_000007.14:g.97143667GT[20], NC_000007.14:g.97143667GT[21], NC_000007.14:g.97143667GT[22], NC_000007.14:g.97143667GT[23], NC_000007.14:g.97143667GT[24], NC_000007.14:g.97143667GT[25], NC_000007.14:g.97143667GT[26], NC_000007.14:g.97143667GT[27], NC_000007.13:g.96772979GT[6], NC_000007.13:g.96772979GT[7], NC_000007.13:g.96772979GT[9], NC_000007.13:g.96772979GT[10], NC_000007.13:g.96772979GT[11], NC_000007.13:g.96772979GT[12], NC_000007.13:g.96772979GT[13], NC_000007.13:g.96772979GT[14], NC_000007.13:g.96772979GT[15], NC_000007.13:g.96772979GT[16], NC_000007.13:g.96772979GT[18], NC_000007.13:g.96772979GT[19], NC_000007.13:g.96772979GT[20], NC_000007.13:g.96772979GT[21], NC_000007.13:g.96772979GT[22], NC_000007.13:g.96772979GT[23], NC_000007.13:g.96772979GT[24], NC_000007.13:g.96772979GT[25], NC_000007.13:g.96772979GT[26], NC_000007.13:g.96772979GT[27]

Select item 149107839319.

rs1491078393 has merged into rs201123819 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 7:97123800 (GRCh38)
7:96753112 (GRCh37)
Canonical SPDI:: NC_000007.14:97123788:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:97123788:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:97123788:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:97123788:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:97123788:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:97123788:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: SDHAF3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.2923/1084 (TWINSUK)
T=0.294/1133 (ALSPAC)
T=0.35/14 (GENOME_DK)
HGVS:: NC_000007.14:g.97123800_97123802del, NC_000007.14:g.97123801_97123802del, NC_000007.14:g.97123802del, NC_000007.14:g.97123802dup, NC_000007.14:g.97123801_97123802dup, NC_000007.14:g.97123800_97123802dup, NC_000007.13:g.96753112_96753114del, NC_000007.13:g.96753113_96753114del, NC_000007.13:g.96753114del, NC_000007.13:g.96753114dup, NC_000007.13:g.96753113_96753114dup, NC_000007.13:g.96753112_96753114dup

Select item 149105830020.

rs1491058300 has merged into rs1554352043 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTAT [Show Flanks]
Chromosome:: 7:97143699 (GRCh38)
7:96773012 (GRCh37)
Canonical SPDI:: NC_000007.14:97143699:T:TGTAT
Gene:: SDHAF3 (Varview), LOC107984034 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTAT=0./0 (ALFA)
TGTA=0.000015/2 (GnomAD)
TGTA=0.045667/176 (ALSPAC)
TGTA=0.055286/205 (TWINSUK)
HGVS:: NC_000007.14:g.97143700_97143701insGTAT, NC_000007.13:g.96773012_96773013insGTAT

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