SNP Links for Nucleotide (Select 1051792985) - SNP

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Select item 14915769261.

rs1491576926 has merged into rs1410561654 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 2:209885768 (GRCh38)
2:210750492 (GRCh37)
Canonical SPDI:: NC_000002.12:209885754:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:209885754:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:209885754:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:209885754:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:209885754:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:209885754:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:209885754:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: UNC80 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.01/6 (NorthernSweden)
HGVS:: NC_000002.12:g.209885768_209885772del, NC_000002.12:g.209885770_209885772del, NC_000002.12:g.209885771_209885772del, NC_000002.12:g.209885772del, NC_000002.12:g.209885772dup, NC_000002.12:g.209885771_209885772dup, NC_000002.12:g.209885767_209885772dup, NC_000002.11:g.210750492_210750496del, NC_000002.11:g.210750494_210750496del, NC_000002.11:g.210750495_210750496del, NC_000002.11:g.210750496del, NC_000002.11:g.210750496dup, NC_000002.11:g.210750495_210750496dup, NC_000002.11:g.210750491_210750496dup, NG_051361.1:g.118844_118848del, NG_051361.1:g.118846_118848del, NG_051361.1:g.118847_118848del, NG_051361.1:g.118848del, NG_051361.1:g.118848dup, NG_051361.1:g.118847_118848dup, NG_051361.1:g.118843_118848dup

Select item 14915631062.

rs1491563106 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:209915404 (GRCh38)
2:210780128 (GRCh37)
Canonical SPDI:: NC_000002.12:209915403:CA:
Gene:: UNC80 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.209915404_209915405del, NC_000002.11:g.210780128_210780129del, NG_051361.1:g.148480_148481del

Select item 14915417933.

rs1491541793 has merged into rs945507057 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCT>-,CT,CTCTCT [Show Flanks]
Chromosome:: 2:209951309 (GRCh38)
2:210816033 (GRCh37)
Canonical SPDI:: NC_000002.12:209951297:TCTCTCTCTCTCTCT:TCTCTCTCTCT,NC_000002.12:209951297:TCTCTCTCTCTCTCT:TCTCTCTCTCTCT,NC_000002.12:209951297:TCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT
Gene:: UNC80 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCTCTCTCTCT=0./0 (ALFA)
TC=0.000019/5 (TOPMED)
TC=0.000071/1 (TOMMO)
-=0.001405/9 (1000Genomes)
-=0.004425/8 (Korea1K)
HGVS:: NC_000002.12:g.209951299CT[5], NC_000002.12:g.209951299CT[6], NC_000002.12:g.209951299CT[8], NC_000002.11:g.210816023CT[5], NC_000002.11:g.210816023CT[6], NC_000002.11:g.210816023CT[8], NG_051361.1:g.184375CT[5], NG_051361.1:g.184375CT[6], NG_051361.1:g.184375CT[8]

Select item 14915173214.

rs1491517321 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:209931316 (GRCh38)
2:210796041 (GRCh37)
Canonical SPDI:: NC_000002.12:209931316:C:CC
Gene:: UNC80 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000015/2 (GnomAD)
HGVS:: NC_000002.12:g.209931317dup, NC_000002.11:g.210796041dup, NG_051361.1:g.164393dup

Select item 14915085475.

rs1491508547 has merged into rs138450605 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 2:209836355 (GRCh38)
2:210701079 (GRCh37)
Canonical SPDI:: NC_000002.12:209836346:TTTTTTTTTT:TTTTTTTT,NC_000002.12:209836346:TTTTTTTTTT:TTTTTTTTT,NC_000002.12:209836346:TTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:209836346:TTTTTTTTTT:TTTTTTTTTTTT
Gene:: UNC80 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.00493/19 (ALSPAC)
-=0.169214/310 (Korea1K)
-=0.236635/1142 (1000Genomes)
-=0.256069/67779 (TOPMED)
-=0.3/12 (GENOME_DK)
-=0.312127/1359 (Estonian)
HGVS:: NC_000002.12:g.209836355_209836356del, NC_000002.12:g.209836356del, NC_000002.12:g.209836356dup, NC_000002.12:g.209836355_209836356dup, NC_000002.11:g.210701079_210701080del, NC_000002.11:g.210701080del, NC_000002.11:g.210701080dup, NC_000002.11:g.210701079_210701080dup, NG_051361.1:g.69431_69432del, NG_051361.1:g.69432del, NG_051361.1:g.69432dup, NG_051361.1:g.69431_69432dup

Select item 14914598466.

rs1491459846 has merged into rs762676514 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT [Show Flanks]
Chromosome:: 2:209903494 (GRCh38)
2:210768218 (GRCh37)
Canonical SPDI:: NC_000002.12:209903485:ATATATATAT:ATATATAT,NC_000002.12:209903485:ATATATATAT:ATATATATATAT,NC_000002.12:209903485:ATATATATAT:ATATATATATATAT
Gene:: UNC80 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATAT=0./0 (ALFA)
-=0.00173/1 (NorthernSweden)
-=0.00476/1 (Vietnamese)
-=0.01874/120 (1000Genomes)
HGVS:: NC_000002.12:g.209903486AT[4], NC_000002.12:g.209903486AT[6], NC_000002.12:g.209903486AT[7], NC_000002.11:g.210768210AT[4], NC_000002.11:g.210768210AT[6], NC_000002.11:g.210768210AT[7], NG_051361.1:g.136562AT[4], NG_051361.1:g.136562AT[6], NG_051361.1:g.136562AT[7]

Select item 14913520087.

rs1491352008 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTCTCTCTCTCTGTGTGTGTGTGT,CTCTCTCTCTGTGTGTGTGT,CTCTCTCTCTGTGTGTGTGTGT,CTCTCTCTGT,CTCTCTCTGTGT,CTCTCTCTGTGTGTGT,CTCTCTCTGTGTGTGTGT,CTCTCTCTGTGTGTGTGTGT,CTCTCTGT,CTCTCTGTGTGTGTGT,CTCTCTGTGTGTGTGTGT,CTCTCTGTGTGTGTGTGTGT,CTCTCTGTGTGTGTGTGTGTGT,CTCTGT,CTCTGTGT,CTCTGTGTGTGT,CTCTGTGTGTGTGT,CTCTGTGTGTGTGTGT,CTCTGTGTGTGTGTGTGT,CTGT,CTGTGT,CTGTGTGTGTGT,CTGTGTGTGTGTGT,CTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 2:209938710 (GRCh38)
2:210803435 (GRCh37)
Canonical SPDI:: NC_000002.12:209938710:T:TCTCTCTCTCTCTGTGTGTGTGTGT,NC_000002.12:209938710:T:TCTCTCTCTCTGTGTGTGTGT,NC_000002.12:209938710:T:TCTCTCTCTCTGTGTGTGTGTGT,NC_000002.12:209938710:T:TCTCTCTCTGT,NC_000002.12:209938710:T:TCTCTCTCTGTGT,NC_000002.12:209938710:T:TCTCTCTCTGTGTGTGT,NC_000002.12:209938710:T:TCTCTCTCTGTGTGTGTGT,NC_000002.12:209938710:T:TCTCTCTCTGTGTGTGTGTGT,NC_000002.12:209938710:T:TCTCTCTGT,NC_000002.12:209938710:T:TCTCTCTGTGTGTGTGT,NC_000002.12:209938710:T:TCTCTCTGTGTGTGTGTGT,NC_000002.12:209938710:T:TCTCTCTGTGTGTGTGTGTGT,NC_000002.12:209938710:T:TCTCTCTGTGTGTGTGTGTGTGT,NC_000002.12:209938710:T:TCTCTGT,NC_000002.12:209938710:T:TCTCTGTGT,NC_000002.12:209938710:T:TCTCTGTGTGTGT,NC_000002.12:209938710:T:TCTCTGTGTGTGTGT,NC_000002.12:209938710:T:TCTCTGTGTGTGTGTGT,NC_000002.12:209938710:T:TCTCTGTGTGTGTGTGTGT,NC_000002.12:209938710:T:TCTGT,NC_000002.12:209938710:T:TCTGTGT,NC_000002.12:209938710:T:TCTGTGTGTGTGT,NC_000002.12:209938710:T:TCTGTGTGTGTGTGT,NC_000002.12:209938710:T:TCTGTGTGTGTGTGTGT,NC_000002.12:209938710:T:TCTGTGTGTGTGTGTGTGT
Gene:: UNC80 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCTGTGT=0./0 (ALFA)
TCTCTGTGTGTGTG=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.209938711TC[6]TG[6]T[1], NC_000002.12:g.209938711TC[5]TG[5]T[1], NC_000002.12:g.209938711TC[5]TG[6]T[1], NC_000002.12:g.209938711TC[4]TGT[1], NC_000002.12:g.209938711TC[4]TG[2]T[1], NC_000002.12:g.209938711TC[4]TG[4]T[1], NC_000002.12:g.209938711TC[4]TG[5]T[1], NC_000002.12:g.209938711TC[4]TG[6]T[1], NC_000002.12:g.209938711TC[3]TGT[1], NC_000002.12:g.209938711TC[3]TG[5]T[1], NC_000002.12:g.209938711TC[3]TG[6]T[1], NC_000002.12:g.209938711TC[3]TG[7]T[1], NC_000002.12:g.209938711TC[3]TG[8]T[1], NC_000002.12:g.209938711TC[2]TGT[1], NC_000002.12:g.209938711TC[2]TG[2]T[1], NC_000002.12:g.209938711TC[2]TG[4]T[1], NC_000002.12:g.209938711TC[2]TG[5]T[1], NC_000002.12:g.209938711TC[2]TG[6]T[1], NC_000002.12:g.209938711TC[2]TG[7]T[1], NC_000002.12:g.209938711_209938712insCTGT, NC_000002.12:g.209938711_209938712insCTGTGT, NC_000002.12:g.209938711_209938712insCTGTGTGTGTGT, NC_000002.12:g.209938711_209938712insCTGTGTGTGTGTGT, NC_000002.12:g.209938711_209938712insCTGTGTGTGTGTGTGT, NC_000002.12:g.209938711_209938712insCTGTGTGTGTGTGTGTGT, NC_000002.11:g.210803435TC[6]TG[6]T[1], NC_000002.11:g.210803435TC[5]TG[5]T[1], NC_000002.11:g.210803435TC[5]TG[6]T[1], NC_000002.11:g.210803435TC[4]TGT[1], NC_000002.11:g.210803435TC[4]TG[2]T[1], NC_000002.11:g.210803435TC[4]TG[4]T[1], NC_000002.11:g.210803435TC[4]TG[5]T[1], NC_000002.11:g.210803435TC[4]TG[6]T[1], NC_000002.11:g.210803435TC[3]TGT[1], NC_000002.11:g.210803435TC[3]TG[5]T[1], NC_000002.11:g.210803435TC[3]TG[6]T[1], NC_000002.11:g.210803435TC[3]TG[7]T[1], NC_000002.11:g.210803435TC[3]TG[8]T[1], NC_000002.11:g.210803435TC[2]TGT[1], NC_000002.11:g.210803435TC[2]TG[2]T[1], NC_000002.11:g.210803435TC[2]TG[4]T[1], NC_000002.11:g.210803435TC[2]TG[5]T[1], NC_000002.11:g.210803435TC[2]TG[6]T[1], NC_000002.11:g.210803435TC[2]TG[7]T[1], NC_000002.11:g.210803435_210803436insCTGT, NC_000002.11:g.210803435_210803436insCTGTGT, NC_000002.11:g.210803435_210803436insCTGTGTGTGTGT, NC_000002.11:g.210803435_210803436insCTGTGTGTGTGTGT, NC_000002.11:g.210803435_210803436insCTGTGTGTGTGTGTGT, NC_000002.11:g.210803435_210803436insCTGTGTGTGTGTGTGTGT, NG_051361.1:g.171787TC[6]TG[6]T[1], NG_051361.1:g.171787TC[5]TG[5]T[1], NG_051361.1:g.171787TC[5]TG[6]T[1], NG_051361.1:g.171787TC[4]TGT[1], NG_051361.1:g.171787TC[4]TG[2]T[1], NG_051361.1:g.171787TC[4]TG[4]T[1], NG_051361.1:g.171787TC[4]TG[5]T[1], NG_051361.1:g.171787TC[4]TG[6]T[1], NG_051361.1:g.171787TC[3]TGT[1], NG_051361.1:g.171787TC[3]TG[5]T[1], NG_051361.1:g.171787TC[3]TG[6]T[1], NG_051361.1:g.171787TC[3]TG[7]T[1], NG_051361.1:g.171787TC[3]TG[8]T[1], NG_051361.1:g.171787TC[2]TGT[1], NG_051361.1:g.171787TC[2]TG[2]T[1], NG_051361.1:g.171787TC[2]TG[4]T[1], NG_051361.1:g.171787TC[2]TG[5]T[1], NG_051361.1:g.171787TC[2]TG[6]T[1], NG_051361.1:g.171787TC[2]TG[7]T[1], NG_051361.1:g.171787_171788insCTGT, NG_051361.1:g.171787_171788insCTGTGT, NG_051361.1:g.171787_171788insCTGTGTGTGTGT, NG_051361.1:g.171787_171788insCTGTGTGTGTGTGT, NG_051361.1:g.171787_171788insCTGTGTGTGTGTGTGT, NG_051361.1:g.171787_171788insCTGTGTGTGTGTGTGTGT

Select item 14913370738.

rs1491337073 has merged into rs3032480 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGT>-,GT,GTGTGT,GTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 2:209873989 (GRCh38)
2:210738713 (GRCh37)
Canonical SPDI:: NC_000002.12:209873977:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGT,NC_000002.12:209873977:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000002.12:209873977:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000002.12:209873977:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000002.12:209873977:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:209873977:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:209873977:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:209873977:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: UNC80 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGT=0./0 (ALFA)
-=0.2531/993 (1000Genomes)
HGVS:: NC_000002.12:g.209873979GT[5], NC_000002.12:g.209873979GT[6], NC_000002.12:g.209873979GT[8], NC_000002.12:g.209873979GT[9], NC_000002.12:g.209873979GT[11], NC_000002.12:g.209873979GT[12], NC_000002.12:g.209873979GT[13], NC_000002.12:g.209873979GT[14], NC_000002.11:g.210738703GT[5], NC_000002.11:g.210738703GT[6], NC_000002.11:g.210738703GT[8], NC_000002.11:g.210738703GT[9], NC_000002.11:g.210738703GT[11], NC_000002.11:g.210738703GT[12], NC_000002.11:g.210738703GT[13], NC_000002.11:g.210738703GT[14], NG_051361.1:g.107055GT[5], NG_051361.1:g.107055GT[6], NG_051361.1:g.107055GT[8], NG_051361.1:g.107055GT[9], NG_051361.1:g.107055GT[11], NG_051361.1:g.107055GT[12], NG_051361.1:g.107055GT[13], NG_051361.1:g.107055GT[14]

Select item 14913213819.

rs1491321381 [Homo sapiens]

Variant type:: INS
Alleles:: ->TT,TTT,TTTCTT,TTTT [Show Flanks]
Chromosome:: 2:209844479 (GRCh38)
2:210709204 (GRCh37)
Canonical SPDI:: NC_000002.12:209844479::TT,NC_000002.12:209844479::TTT,NC_000002.12:209844479::TTTCTT,NC_000002.12:209844479::TTTT
Gene:: UNC80 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTCTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.209844479_209844480insTT, NC_000002.12:g.209844479_209844480insTTT, NC_000002.12:g.209844479_209844480insTTTCTT, NC_000002.12:g.209844479_209844480insTTTT, NC_000002.11:g.210709203_210709204insTT, NC_000002.11:g.210709203_210709204insTTT, NC_000002.11:g.210709203_210709204insTTTCTT, NC_000002.11:g.210709203_210709204insTTTT, NG_051361.1:g.77555_77556insTT, NG_051361.1:g.77555_77556insTTT, NG_051361.1:g.77555_77556insTTTCTT, NG_051361.1:g.77555_77556insTTTT

Select item 149131279810.

rs1491312798 has merged into rs869279104 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:209931317 (GRCh38)
2:210796041 (GRCh37)
Canonical SPDI:: NC_000002.12:209931315:ACA:A
Gene:: UNC80 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.209931317_209931318del, NC_000002.11:g.210796041_210796042del, NG_051361.1:g.164393_164394del

Select item 149127139611.

rs1491271396 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTATATATA [Show Flanks]
Chromosome:: 2:209903486 (GRCh38)
2:210768211 (GRCh37)
Canonical SPDI:: NC_000002.12:209903486:TATATATATTATATATA:TATATATATTATATATATTATATATA
Gene:: UNC80 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATATATATTATATATATTATATATA=0./0 (ALFA)
HGVS:: NC_000002.12:g.209903495_209903503dup, NC_000002.11:g.210768219_210768227dup, NG_051361.1:g.136571_136579dup

Select item 149126492412.

rs1491264924 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 2:209844479 (GRCh38)
2:210709203 (GRCh37)
Canonical SPDI:: NC_000002.12:209844478:CC:
Gene:: UNC80 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.209844479_209844480del, NC_000002.11:g.210709203_210709204del, NG_051361.1:g.77555_77556del

Select item 149123731713.

rs1491237317 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 2:209925574 (GRCh38)
2:210790298 (GRCh37)
Canonical SPDI:: NC_000002.12:209925572:CTC:C
Gene:: UNC80 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000002.12:g.209925574_209925575del, NC_000002.11:g.210790298_210790299del, NG_051361.1:g.158650_158651del

Select item 149121025014.

rs1491210250 has merged into rs56102642 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 2:209902919 (GRCh38)
2:210767643 (GRCh37)
Canonical SPDI:: NC_000002.12:209902904:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000002.12:209902904:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000002.12:209902904:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000002.12:209902904:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000002.12:209902904:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:209902904:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:209902904:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:209902904:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:209902904:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:209902904:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:209902904:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:209902904:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:209902904:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:209902904:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:209902904:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:209902904:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:209902904:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:209902904:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: UNC80 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGT=0./0 (ALFA)
-=0.1059/408 (ALSPAC)
HGVS:: NC_000002.12:g.209902905GT[7], NC_000002.12:g.209902905GT[8], NC_000002.12:g.209902905GT[9], NC_000002.12:g.209902905GT[10], NC_000002.12:g.209902905GT[11], NC_000002.12:g.209902905GT[12], NC_000002.12:g.209902905GT[13], NC_000002.12:g.209902905GT[14], NC_000002.12:g.209902905GT[15], NC_000002.12:g.209902905GT[16], NC_000002.12:g.209902905GT[17], NC_000002.12:g.209902905GT[18], NC_000002.12:g.209902905GT[19], NC_000002.12:g.209902905GT[21], NC_000002.12:g.209902905GT[22], NC_000002.12:g.209902905GT[23], NC_000002.12:g.209902905GT[24], NC_000002.12:g.209902905GT[26], NC_000002.11:g.210767629GT[7], NC_000002.11:g.210767629GT[8], NC_000002.11:g.210767629GT[9], NC_000002.11:g.210767629GT[10], NC_000002.11:g.210767629GT[11], NC_000002.11:g.210767629GT[12], NC_000002.11:g.210767629GT[13], NC_000002.11:g.210767629GT[14], NC_000002.11:g.210767629GT[15], NC_000002.11:g.210767629GT[16], NC_000002.11:g.210767629GT[17], NC_000002.11:g.210767629GT[18], NC_000002.11:g.210767629GT[19], NC_000002.11:g.210767629GT[21], NC_000002.11:g.210767629GT[22], NC_000002.11:g.210767629GT[23], NC_000002.11:g.210767629GT[24], NC_000002.11:g.210767629GT[26], NG_051361.1:g.135981GT[7], NG_051361.1:g.135981GT[8], NG_051361.1:g.135981GT[9], NG_051361.1:g.135981GT[10], NG_051361.1:g.135981GT[11], NG_051361.1:g.135981GT[12], NG_051361.1:g.135981GT[13], NG_051361.1:g.135981GT[14], NG_051361.1:g.135981GT[15], NG_051361.1:g.135981GT[16], NG_051361.1:g.135981GT[17], NG_051361.1:g.135981GT[18], NG_051361.1:g.135981GT[19], NG_051361.1:g.135981GT[21], NG_051361.1:g.135981GT[22], NG_051361.1:g.135981GT[23], NG_051361.1:g.135981GT[24], NG_051361.1:g.135981GT[26]

Select item 149117263515.

rs1491172635 has merged into rs138450605 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 2:209836355 (GRCh38)
2:210701079 (GRCh37)
Canonical SPDI:: NC_000002.12:209836346:TTTTTTTTTT:TTTTTTTT,NC_000002.12:209836346:TTTTTTTTTT:TTTTTTTTT,NC_000002.12:209836346:TTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:209836346:TTTTTTTTTT:TTTTTTTTTTTT
Gene:: UNC80 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.00493/19 (ALSPAC)
-=0.169214/310 (Korea1K)
-=0.236635/1142 (1000Genomes)
-=0.256069/67779 (TOPMED)
-=0.3/12 (GENOME_DK)
-=0.312127/1359 (Estonian)
HGVS:: NC_000002.12:g.209836355_209836356del, NC_000002.12:g.209836356del, NC_000002.12:g.209836356dup, NC_000002.12:g.209836355_209836356dup, NC_000002.11:g.210701079_210701080del, NC_000002.11:g.210701080del, NC_000002.11:g.210701080dup, NC_000002.11:g.210701079_210701080dup, NG_051361.1:g.69431_69432del, NG_051361.1:g.69432del, NG_051361.1:g.69432dup, NG_051361.1:g.69431_69432dup

Select item 149115760016.

rs1491157600 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:209791819 (GRCh38)
2:210656543 (GRCh37)
Canonical SPDI:: NC_000002.12:209791818:CA:
Gene:: UNC80 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00091/21 (TOMMO)
HGVS:: NC_000002.12:g.209791819_209791820del, NC_000002.11:g.210656543_210656544del, NG_051361.1:g.24895_24896del

Select item 149113706017.

rs1491137060 has merged into rs34002751 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 2:209903341 (GRCh38)
2:210768065 (GRCh37)
Canonical SPDI:: NC_000002.12:209903320:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000002.12:209903320:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:209903320:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:209903320:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:209903320:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:209903320:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:209903320:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:209903320:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:209903320:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:209903320:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:209903320:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:209903320:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: UNC80 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGTGTG=0./0 (ALFA)
-=0.3889/14 (GENOME_DK)
-=0.487/2439 (1000Genomes)
HGVS:: NC_000002.12:g.209903321TG[10], NC_000002.12:g.209903321TG[11], NC_000002.12:g.209903321TG[12], NC_000002.12:g.209903321TG[13], NC_000002.12:g.209903321TG[14], NC_000002.12:g.209903321TG[15], NC_000002.12:g.209903321TG[17], NC_000002.12:g.209903321TG[18], NC_000002.12:g.209903321TG[19], NC_000002.12:g.209903321TG[20], NC_000002.12:g.209903321TG[21], NC_000002.12:g.209903321TG[22], NC_000002.11:g.210768045TG[10], NC_000002.11:g.210768045TG[11], NC_000002.11:g.210768045TG[12], NC_000002.11:g.210768045TG[13], NC_000002.11:g.210768045TG[14], NC_000002.11:g.210768045TG[15], NC_000002.11:g.210768045TG[17], NC_000002.11:g.210768045TG[18], NC_000002.11:g.210768045TG[19], NC_000002.11:g.210768045TG[20], NC_000002.11:g.210768045TG[21], NC_000002.11:g.210768045TG[22], NG_051361.1:g.136397TG[10], NG_051361.1:g.136397TG[11], NG_051361.1:g.136397TG[12], NG_051361.1:g.136397TG[13], NG_051361.1:g.136397TG[14], NG_051361.1:g.136397TG[15], NG_051361.1:g.136397TG[17], NG_051361.1:g.136397TG[18], NG_051361.1:g.136397TG[19], NG_051361.1:g.136397TG[20], NG_051361.1:g.136397TG[21], NG_051361.1:g.136397TG[22]

Select item 149109830818.

rs1491098308 has merged into rs36167891 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 2:209844453 (GRCh38)
2:210709177 (GRCh37)
Canonical SPDI:: NC_000002.12:209844450:TTTT:TT,NC_000002.12:209844450:TTTT:TTT,NC_000002.12:209844450:TTTT:TTTTT,NC_000002.12:209844450:TTTT:TTTTTT
Gene:: UNC80 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
-=0.00026/1 (ALSPAC)
-=0.00055/1 (Korea1K)
-=0.0007/12 (TOMMO)
-=0.05833/35 (NorthernSweden)
HGVS:: NC_000002.12:g.209844453_209844454del, NC_000002.12:g.209844454del, NC_000002.12:g.209844454dup, NC_000002.12:g.209844453_209844454dup, NC_000002.11:g.210709177_210709178del, NC_000002.11:g.210709178del, NC_000002.11:g.210709178dup, NC_000002.11:g.210709177_210709178dup, NG_051361.1:g.77529_77530del, NG_051361.1:g.77530del, NG_051361.1:g.77530dup, NG_051361.1:g.77529_77530dup

Select item 149109461519.

rs1491094615 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:209907291 (GRCh38)
2:210772015 (GRCh37)
Canonical SPDI:: NC_000002.12:209907290:CA:
Gene:: UNC80 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.209907291_209907292del, NC_000002.11:g.210772015_210772016del, NG_051361.1:g.140367_140368del

Select item 149109222320.

rs1491092223 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 2:209902904 (GRCh38)
2:210767628 (GRCh37)
Canonical SPDI:: NC_000002.12:209902903:CG:
Gene:: UNC80 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000009/1 (GnomAD)
HGVS:: NC_000002.12:g.209902904_209902905del, NC_000002.11:g.210767628_210767629del, NG_051361.1:g.135980_135981del

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