SNP Links for Nucleotide (Select 922304389) - SNP

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Select item 14915553281.

rs1491555328 has merged into rs200968218 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 3:132656861 (GRCh38)
3:132375705 (GRCh37)
Canonical SPDI:: NC_000003.12:132656849:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:132656849:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:132656849:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:132656849:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: UBA5 (Varview), ACAD11 (Varview), NPHP3-ACAD11 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.175/7 (GENOME_DK)
-=0.187986/49758 (TOPMED)
HGVS:: NC_000003.12:g.132656861_132656862del, NC_000003.12:g.132656862del, NC_000003.12:g.132656862dup, NC_000003.12:g.132656861_132656862dup, NC_000003.11:g.132375705_132375706del, NC_000003.11:g.132375706del, NC_000003.11:g.132375706dup, NC_000003.11:g.132375705_132375706dup, NG_042830.1:g.8281_8282del, NG_042830.1:g.8282del, NG_042830.1:g.8282dup, NG_042830.1:g.8281_8282dup, NG_052968.1:g.7416_7417del, NG_052968.1:g.7417del, NG_052968.1:g.7417dup, NG_052968.1:g.7416_7417dup

Select item 14914332142.

rs1491433214 [Homo sapiens]

Variant type:: INS
Alleles:: ->AGC [Show Flanks]
Chromosome:: 3:132616807 (GRCh38)
3:132335652 (GRCh37)
Canonical SPDI:: NC_000003.12:132616807::AGC
Gene:: ACAD11 (Varview), NPHP3-ACAD11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGC=0./0 (ALFA)
AGC=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.132616807_132616808insAGC, NC_000003.11:g.132335651_132335652insAGC, NG_042830.1:g.48324_48325insGCT

Select item 14911855163.

rs1491185516 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 3:132646290 (GRCh38)
3:132365135 (GRCh37)
Canonical SPDI:: NC_000003.12:132646290:AAAAAA:AAAAAAA
Gene:: ACAD11 (Varview), NPHP3-ACAD11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAAAA=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.132646296dup, NC_000003.11:g.132365140dup, NG_042830.1:g.18841dup

Select item 14911778684.

rs1491177868 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 3:132616808 (GRCh38)
3:132335652 (GRCh37)
Canonical SPDI:: NC_000003.12:132616806:TTT:T
Gene:: ACAD11 (Varview), NPHP3-ACAD11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.132616808_132616809del, NC_000003.11:g.132335652_132335653del, NG_042830.1:g.48324_48325del

Select item 14910363545.

rs1491036354 has merged into rs56190801 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTGTATTAAAAAAACACATATTCTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATAAATTCTTTTTTCTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:132657876 (GRCh38)
3:132376720 (GRCh37)
Canonical SPDI:: NC_000003.12:132657866:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:132657866:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:132657866:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:132657866:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:132657866:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:132657866:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:132657866:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:132657866:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:132657866:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:132657866:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:132657866:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:132657866:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:132657866:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:132657866:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:132657866:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:132657866:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:132657866:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:132657866:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:132657866:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:132657866:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:132657866:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTGTATTAAAAAAACACATATTCTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:132657866:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:132657866:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:132657866:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:132657866:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATAAATTCTTTTTTCTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:132657866:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: UBA5 (Varview), ACAD11 (Varview), NPHP3-ACAD11 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.46685/2338 (1000Genomes)
HGVS:: NC_000003.12:g.132657876_132657886del, NC_000003.12:g.132657877_132657886del, NC_000003.12:g.132657878_132657886del, NC_000003.12:g.132657879_132657886del, NC_000003.12:g.132657880_132657886del, NC_000003.12:g.132657881_132657886del, NC_000003.12:g.132657882_132657886del, NC_000003.12:g.132657883_132657886del, NC_000003.12:g.132657884_132657886del, NC_000003.12:g.132657885_132657886del, NC_000003.12:g.132657886del, NC_000003.12:g.132657886dup, NC_000003.12:g.132657885_132657886dup, NC_000003.12:g.132657884_132657886dup, NC_000003.12:g.132657883_132657886dup, NC_000003.12:g.132657882_132657886dup, NC_000003.12:g.132657881_132657886dup, NC_000003.12:g.132657880_132657886dup, NC_000003.12:g.132657878_132657886dup, NC_000003.12:g.132657876_132657886dup, NC_000003.12:g.132657867_132657886T[35]ATTTTTTTTGTATTAAAAAAACACATATTCTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.132657867_132657886T[37]CTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.132657867_132657886dup, NC_000003.12:g.132657886_132657887insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.132657867_132657886T[59]AATAAATTCTTTTTTCTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.132657886_132657887insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.132376720_132376730del, NC_000003.11:g.132376721_132376730del, NC_000003.11:g.132376722_132376730del, NC_000003.11:g.132376723_132376730del, NC_000003.11:g.132376724_132376730del, NC_000003.11:g.132376725_132376730del, NC_000003.11:g.132376726_132376730del, NC_000003.11:g.132376727_132376730del, NC_000003.11:g.132376728_132376730del, NC_000003.11:g.132376729_132376730del, NC_000003.11:g.132376730del, NC_000003.11:g.132376730dup, NC_000003.11:g.132376729_132376730dup, NC_000003.11:g.132376728_132376730dup, NC_000003.11:g.132376727_132376730dup, NC_000003.11:g.132376726_132376730dup, NC_000003.11:g.132376725_132376730dup, NC_000003.11:g.132376724_132376730dup, NC_000003.11:g.132376722_132376730dup, NC_000003.11:g.132376720_132376730dup, NC_000003.11:g.132376711_132376730T[35]ATTTTTTTTGTATTAAAAAAACACATATTCTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.132376711_132376730T[37]CTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.132376711_132376730dup, NC_000003.11:g.132376730_132376731insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.132376711_132376730T[59]AATAAATTCTTTTTTCTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.132376730_132376731insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_042830.1:g.7255_7265del, NG_042830.1:g.7256_7265del, NG_042830.1:g.7257_7265del, NG_042830.1:g.7258_7265del, NG_042830.1:g.7259_7265del, NG_042830.1:g.7260_7265del, NG_042830.1:g.7261_7265del, NG_042830.1:g.7262_7265del, NG_042830.1:g.7263_7265del, NG_042830.1:g.7264_7265del, NG_042830.1:g.7265del, NG_042830.1:g.7265dup, NG_042830.1:g.7264_7265dup, NG_042830.1:g.7263_7265dup, NG_042830.1:g.7262_7265dup, NG_042830.1:g.7261_7265dup, NG_042830.1:g.7260_7265dup, NG_042830.1:g.7259_7265dup, NG_042830.1:g.7257_7265dup, NG_042830.1:g.7255_7265dup, NG_042830.1:g.7246_7265A[21]GAATATGTGTTTTTTTAATACAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_042830.1:g.7246_7265A[21]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_042830.1:g.7246_7265dup, NG_042830.1:g.7265_7266insAAAAAAAAAAAAAAAAAAAAAAAA, NG_042830.1:g.7246_7265A[21]GAAAAAAGAATTTATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_042830.1:g.7265_7266insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_052968.1:g.8431_8441del, NG_052968.1:g.8432_8441del, NG_052968.1:g.8433_8441del, NG_052968.1:g.8434_8441del, NG_052968.1:g.8435_8441del, NG_052968.1:g.8436_8441del, NG_052968.1:g.8437_8441del, NG_052968.1:g.8438_8441del, NG_052968.1:g.8439_8441del, NG_052968.1:g.8440_8441del, NG_052968.1:g.8441del, NG_052968.1:g.8441dup, NG_052968.1:g.8440_8441dup, NG_052968.1:g.8439_8441dup, NG_052968.1:g.8438_8441dup, NG_052968.1:g.8437_8441dup, NG_052968.1:g.8436_8441dup, NG_052968.1:g.8435_8441dup, NG_052968.1:g.8433_8441dup, NG_052968.1:g.8431_8441dup, NG_052968.1:g.8422_8441T[35]ATTTTTTTTGTATTAAAAAAACACATATTCTTTTTTTTTTTTTTTTTTTTT[1], NG_052968.1:g.8422_8441T[37]CTTTTTTTTTTTTTTTTTTTTT[1], NG_052968.1:g.8422_8441dup, NG_052968.1:g.8441_8442insTTTTTTTTTTTTTTTTTTTTTTTT, NG_052968.1:g.8422_8441T[59]AATAAATTCTTTTTTCTTTTTTTTTTTTTTTTTTTTT[1], NG_052968.1:g.8441_8442insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14910197076.

rs1491019707 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 3:132575937 (GRCh38)
3:132294781 (GRCh37)
Canonical SPDI:: NC_000003.12:132575936:AG:
Gene:: ACAD11 (Varview), NPHP3-ACAD11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.132575937_132575938del, NC_000003.11:g.132294781_132294782del, NG_042830.1:g.89194_89195del

Select item 14908676567.

rs1490867656 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 3:132592370 (GRCh38)
3:132311214 (GRCh37)
Canonical SPDI:: NC_000003.12:132592369:T:A,NC_000003.12:132592369:T:C
Gene:: ACAD11 (Varview), NPHP3-ACAD11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.132592370T>A, NC_000003.12:g.132592370T>C, NC_000003.11:g.132311214T>A, NC_000003.11:g.132311214T>C, NG_042830.1:g.72762A>T, NG_042830.1:g.72762A>G

Select item 14908601858.

rs1490860185 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:132609287 (GRCh38)
3:132328131 (GRCh37)
Canonical SPDI:: NC_000003.12:132609286:G:A,NC_000003.12:132609286:G:C
Gene:: ACAD11 (Varview), NPHP3-ACAD11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.132609287G>A, NC_000003.12:g.132609287G>C, NC_000003.11:g.132328131G>A, NC_000003.11:g.132328131G>C, NG_042830.1:g.55845C>T, NG_042830.1:g.55845C>G

Select item 14908466429.

rs1490846642 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATTA>- [Show Flanks]
Chromosome:: 3:132582064 (GRCh38)
3:132300908 (GRCh37)
Canonical SPDI:: NC_000003.12:132582060:TTATATTA:TTA
Gene:: ACAD11 (Varview), NPHP3-ACAD11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.132582064_132582068del, NC_000003.11:g.132300908_132300912del, NG_042830.1:g.83067_83071del

Select item 149082400810.

rs1490824008 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:132617355 (GRCh38)
3:132336199 (GRCh37)
Canonical SPDI:: NC_000003.12:132617354:C:T
Gene:: ACAD11 (Varview), NPHP3-ACAD11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000043/6 (GnomAD)
T=0.000045/12 (TOPMED)
HGVS:: NC_000003.12:g.132617355C>T, NC_000003.11:g.132336199C>T, NG_042830.1:g.47777G>A

Select item 149078164211.

rs1490781642 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:132575934 (GRCh38)
3:132294778 (GRCh37)
Canonical SPDI:: NC_000003.12:132575933:G:A
Gene:: ACAD11 (Varview), NPHP3-ACAD11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.0019/17 (ALFA)
HGVS:: NC_000003.12:g.132575934G>A, NC_000003.11:g.132294778G>A, NG_042830.1:g.89198C>T

Select item 149076747112.

rs1490767471 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:132620412 (GRCh38)
3:132339256 (GRCh37)
Canonical SPDI:: NC_000003.12:132620411:A:G
Gene:: ACAD11 (Varview), NPHP3-ACAD11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
G=0.000342/1 (KOREAN)
G=0.001092/2 (Korea1K)
HGVS:: NC_000003.12:g.132620412A>G, NC_000003.11:g.132339256A>G, NG_042830.1:g.44720T>C

Select item 149072927113.

rs1490729271 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:132660003 (GRCh38)
3:132378847 (GRCh37)
Canonical SPDI:: NC_000003.12:132660002:T:C
Gene:: UBA5 (Varview), ACAD11 (Varview), NPHP3-ACAD11 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.132660003T>C, NC_000003.11:g.132378847T>C, NG_042830.1:g.5129A>G, NG_052968.1:g.10558T>C, NM_001321239.1:c.-735T>C, NM_024818.4:c.-535T>C, NM_032169.4:c.-252A>G, NR_132426.1:n.129A>G, NR_132427.1:n.129A>G, NR_132428.1:n.129A>G, XR_007095728.1:n.507T>C

Select item 149071432814.

rs1490714328 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:132649531 (GRCh38)
3:132368375 (GRCh37)
Canonical SPDI:: NC_000003.12:132649530:A:G
Gene:: ACAD11 (Varview), NPHP3-ACAD11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.132649531A>G, NC_000003.11:g.132368375A>G, NG_042830.1:g.15601T>C, NG_052968.1:g.86A>G, NG_025743.1:g.2511A>G

Select item 149071131415.

rs1490711314 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:132617078 (GRCh38)
3:132335922 (GRCh37)
Canonical SPDI:: NC_000003.12:132617077:T:C
Gene:: ACAD11 (Varview), NPHP3-ACAD11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.132617078T>C, NC_000003.11:g.132335922T>C, NG_042830.1:g.48054A>G

Select item 149068924916.

rs1490689249 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:132648491 (GRCh38)
3:132367335 (GRCh37)
Canonical SPDI:: NC_000003.12:132648490:T:C
Gene:: ACAD11 (Varview), NPHP3-ACAD11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.132648491T>C, NC_000003.11:g.132367335T>C, NG_042830.1:g.16641A>G, NG_025743.1:g.1471T>C

Select item 149068595717.

rs1490685957 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:132633360 (GRCh38)
3:132352204 (GRCh37)
Canonical SPDI:: NC_000003.12:132633359:C:A
Gene:: ACAD11 (Varview), NPHP3-ACAD11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.132633360C>A, NC_000003.11:g.132352204C>A, NG_042830.1:g.31772G>T

Select item 149066907718.

rs1490669077 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATT>- [Show Flanks]
Chromosome:: 3:132564165 (GRCh38)
3:132283009 (GRCh37)
Canonical SPDI:: NC_000003.12:132564161:ATTATT:ATT
Gene:: ACAD11 (Varview), NPHP3-ACAD11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATTATT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.132564162ATT[1], NC_000003.11:g.132283006ATT[1], NG_042830.1:g.100965AAT[1]

Select item 149064466119.

rs1490644661 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:132575271 (GRCh38)
3:132294115 (GRCh37)
Canonical SPDI:: NC_000003.12:132575270:T:C
Gene:: ACAD11 (Varview), NPHP3-ACAD11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.132575271T>C, NC_000003.11:g.132294115T>C, NG_042830.1:g.89861A>G

Select item 149058568920.

rs1490585689 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:132602056 (GRCh38)
3:132320900 (GRCh37)
Canonical SPDI:: NC_000003.12:132602055:G:A
Gene:: ACKR4 (Varview), ACAD11 (Varview), NPHP3-ACAD11 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.132602056G>A, NC_000003.11:g.132320900G>A, NG_042830.1:g.63076C>T, NM_016557.4:c.*606G>A, NM_016557.3:c.*606G>A, NM_178445.2:c.*606G>A

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