SNP Links for Gene (Select 5976) - SNP

Links from Gene

Items: 1 to 20 of 10065

<< First< Prev

Page of 504

Next >Last >>

Select item 14914673621.

rs1491467362 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAACTC [Show Flanks]
Chromosome:: 19:18864640 (GRCh38)
19:18975450 (GRCh37)
Canonical SPDI:: NC_000019.10:18864640:CTCAAACTC:CTCAAACTCAAACTC
Gene:: UPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCAAACTCAAACTC=0./0 (ALFA)
CTCAAA=0.000007/1 (GnomAD)
CTCAAA=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.18864644_18864649dup, NC_000019.9:g.18975453_18975458dup

Select item 14914567222.

rs1491456722 has merged into rs72080135 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 19:18843733 (GRCh38)
19:18954542 (GRCh37)
Canonical SPDI:: NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:18843717:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: UPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000019.10:g.18843719GT[7], NC_000019.10:g.18843719GT[8], NC_000019.10:g.18843719GT[9], NC_000019.10:g.18843719GT[10], NC_000019.10:g.18843719GT[11], NC_000019.10:g.18843719GT[12], NC_000019.10:g.18843719GT[13], NC_000019.10:g.18843719GT[14], NC_000019.10:g.18843719GT[15], NC_000019.10:g.18843719GT[16], NC_000019.10:g.18843719GT[18], NC_000019.10:g.18843719GT[19], NC_000019.10:g.18843719GT[20], NC_000019.10:g.18843719GT[21], NC_000019.10:g.18843719GT[22], NC_000019.10:g.18843719GT[23], NC_000019.10:g.18843719GT[24], NC_000019.9:g.18954528GT[7], NC_000019.9:g.18954528GT[8], NC_000019.9:g.18954528GT[9], NC_000019.9:g.18954528GT[10], NC_000019.9:g.18954528GT[11], NC_000019.9:g.18954528GT[12], NC_000019.9:g.18954528GT[13], NC_000019.9:g.18954528GT[14], NC_000019.9:g.18954528GT[15], NC_000019.9:g.18954528GT[16], NC_000019.9:g.18954528GT[18], NC_000019.9:g.18954528GT[19], NC_000019.9:g.18954528GT[20], NC_000019.9:g.18954528GT[21], NC_000019.9:g.18954528GT[22], NC_000019.9:g.18954528GT[23], NC_000019.9:g.18954528GT[24]

Select item 14913862043.

rs1491386204 has merged into rs1437817172 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT [Show Flanks]
Chromosome:: 19:18843518 (GRCh38)
19:18954327 (GRCh37)
Canonical SPDI:: NC_000019.10:18843516:TGT:T,NC_000019.10:18843516:TGT:TGTGT
Gene:: UPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGT=0./0 (ALFA)
TG=0.000004/1 (TOPMED)
-=0.000078/1 (TOMMO)
-=0.000312/2 (1000Genomes)
-=0.000612/48 (GnomAD)
HGVS:: NC_000019.10:g.18843518_18843519del, NC_000019.10:g.18843518_18843519dup, NC_000019.9:g.18954327_18954328del, NC_000019.9:g.18954327_18954328dup

Select item 14913134444.

rs1491313444 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:18843517 (GRCh38)
19:18954327 (GRCh37)
Canonical SPDI:: NC_000019.10:18843517:G:GG
Gene:: UPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000019.10:g.18843518dup, NC_000019.9:g.18954327dup

Select item 14912860535.

rs1491286053 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,G [Show Flanks]
Chromosome:: 19:18864734 (GRCh38)
19:18975544 (GRCh37)
Canonical SPDI:: NC_000019.10:18864734::C,NC_000019.10:18864734::G
Gene:: UPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.0001/1 (GnomAD)
C=0.0005/13 (TOMMO)
HGVS:: NC_000019.10:g.18864734_18864735insC, NC_000019.10:g.18864734_18864735insG, NC_000019.9:g.18975543_18975544insC, NC_000019.9:g.18975543_18975544insG

Select item 14912171036.

rs1491217103 has merged into rs10682791 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:18864744 (GRCh38)
19:18975553 (GRCh37)
Canonical SPDI:: NC_000019.10:18864733:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:18864733:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:18864733:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:18864733:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:18864733:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:18864733:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:18864733:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:18864733:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:18864733:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:18864733:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:18864733:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:18864733:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:18864733:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:18864733:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:18864733:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:18864733:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:18864733:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:18864733:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:18864733:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:18864733:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:18864733:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:18864733:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:18864733:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:18864733:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:18864733:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:18864733:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:18864733:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: UPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.18864744_18864756del, NC_000019.10:g.18864745_18864756del, NC_000019.10:g.18864746_18864756del, NC_000019.10:g.18864747_18864756del, NC_000019.10:g.18864748_18864756del, NC_000019.10:g.18864749_18864756del, NC_000019.10:g.18864750_18864756del, NC_000019.10:g.18864751_18864756del, NC_000019.10:g.18864752_18864756del, NC_000019.10:g.18864753_18864756del, NC_000019.10:g.18864755_18864756del, NC_000019.10:g.18864756del, NC_000019.10:g.18864756dup, NC_000019.10:g.18864755_18864756dup, NC_000019.10:g.18864754_18864756dup, NC_000019.10:g.18864753_18864756dup, NC_000019.10:g.18864752_18864756dup, NC_000019.10:g.18864751_18864756dup, NC_000019.10:g.18864750_18864756dup, NC_000019.10:g.18864749_18864756dup, NC_000019.10:g.18864748_18864756dup, NC_000019.10:g.18864747_18864756dup, NC_000019.10:g.18864746_18864756dup, NC_000019.10:g.18864736_18864756dup, NC_000019.10:g.18864756_18864757insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.18864756_18864757insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.18864756_18864757insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.18975553_18975565del, NC_000019.9:g.18975554_18975565del, NC_000019.9:g.18975555_18975565del, NC_000019.9:g.18975556_18975565del, NC_000019.9:g.18975557_18975565del, NC_000019.9:g.18975558_18975565del, NC_000019.9:g.18975559_18975565del, NC_000019.9:g.18975560_18975565del, NC_000019.9:g.18975561_18975565del, NC_000019.9:g.18975562_18975565del, NC_000019.9:g.18975564_18975565del, NC_000019.9:g.18975565del, NC_000019.9:g.18975565dup, NC_000019.9:g.18975564_18975565dup, NC_000019.9:g.18975563_18975565dup, NC_000019.9:g.18975562_18975565dup, NC_000019.9:g.18975561_18975565dup, NC_000019.9:g.18975560_18975565dup, NC_000019.9:g.18975559_18975565dup, NC_000019.9:g.18975558_18975565dup, NC_000019.9:g.18975557_18975565dup, NC_000019.9:g.18975556_18975565dup, NC_000019.9:g.18975555_18975565dup, NC_000019.9:g.18975545_18975565dup, NC_000019.9:g.18975565_18975566insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.18975565_18975566insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.18975565_18975566insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14909509687.

rs1490950968 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:18851471 (GRCh38)
19:18962280 (GRCh37)
Canonical SPDI:: NC_000019.10:18851470:G:A
Gene:: UPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000019.10:g.18851471G>A, NC_000019.9:g.18962280G>A

Select item 14909137488.

rs1490913748 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:18832500 (GRCh38)
19:18943309 (GRCh37)
Canonical SPDI:: NC_000019.10:18832499:C:A
Gene:: UPF1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000019.10:g.18832500C>A, NC_000019.9:g.18943309C>A

Select item 14907325449.

rs1490732544 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:18846718 (GRCh38)
19:18957527 (GRCh37)
Canonical SPDI:: NC_000019.10:18846717:C:T
Gene:: UPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.18846718C>T, NC_000019.9:g.18957527C>T

Select item 149070277410.

rs1490702774 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:18865371 (GRCh38)
19:18976180 (GRCh37)
Canonical SPDI:: NC_000019.10:18865370:C:T
Gene:: UPF1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.18865371C>T, NC_000019.9:g.18976180C>T, NM_002911.4:c.2940C>T, NM_002911.3:c.2940C>T, XM_017027105.3:c.2997C>T, XM_017027105.2:c.2997C>T, XM_017027105.1:c.2997C>T, XM_017027106.3:c.2964C>T, XM_017027106.2:c.2964C>T, XM_017027106.1:c.2964C>T, NM_001297549.2:c.2973C>T, NM_001297549.1:c.2973C>T, XM_047439191.1:c.2868C>T

Select item 149067705811.

rs1490677058 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 19:18866361 (GRCh38)
19:18977170 (GRCh37)
Canonical SPDI:: NC_000019.10:18866360:A:C,NC_000019.10:18866360:A:T
Gene:: UPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.18866361A>C, NC_000019.10:g.18866361A>T, NC_000019.9:g.18977170A>C, NC_000019.9:g.18977170A>T

Select item 149065851512.

rs1490658515 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 19:18858973 (GRCh38)
19:18969782 (GRCh37)
Canonical SPDI:: NC_000019.10:18858972:GT:
Gene:: UPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.18858973_18858974del, NC_000019.9:g.18969782_18969783del

Select item 149064154213.

rs1490641542 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:18859875 (GRCh38)
19:18970684 (GRCh37)
Canonical SPDI:: NC_000019.10:18859874:G:C
Gene:: UPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.18859875G>C, NC_000019.9:g.18970684G>C

Select item 149060452214.

rs1490604522 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:18866147 (GRCh38)
19:18976956 (GRCh37)
Canonical SPDI:: NC_000019.10:18866146:G:C
Gene:: UPF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.18866147G>C, NC_000019.9:g.18976956G>C, NM_002911.4:c.3341G>C, NM_002911.3:c.3341G>C, XM_017027105.3:c.3398G>C, XM_017027105.2:c.3398G>C, XM_017027105.1:c.3398G>C, XM_017027106.3:c.3365G>C, XM_017027106.2:c.3365G>C, XM_017027106.1:c.3365G>C, NM_001297549.2:c.3374G>C, NM_001297549.1:c.3374G>C, XM_047439191.1:c.3269G>C, NP_002902.2:p.Gly1114Ala, XP_016882594.1:p.Gly1133Ala, XP_016882595.1:p.Gly1122Ala, NP_001284478.1:p.Gly1125Ala, XP_047295147.1:p.Gly1090Ala

Select item 149053736115.

rs1490537361 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:18844212 (GRCh38)
19:18955021 (GRCh37)
Canonical SPDI:: NC_000019.10:18844211:A:G
Gene:: UPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.18844212A>G, NC_000019.9:g.18955021A>G

Select item 149053187516.

rs1490531875 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:18845028 (GRCh38)
19:18955837 (GRCh37)
Canonical SPDI:: NC_000019.10:18845027:G:A
Gene:: UPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.18845028G>A, NC_000019.9:g.18955837G>A

Select item 149024991217.

rs1490249912 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:18839457 (GRCh38)
19:18950266 (GRCh37)
Canonical SPDI:: NC_000019.10:18839456:G:A
Gene:: UPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.18839457G>A, NC_000019.9:g.18950266G>A

Select item 149024716518.

rs1490247165 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:18852685 (GRCh38)
19:18963494 (GRCh37)
Canonical SPDI:: NC_000019.10:18852684:C:T
Gene:: UPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
T=0.000043/5 (GnomAD)
HGVS:: NC_000019.10:g.18852685C>T, NC_000019.9:g.18963494C>T

Select item 149018811519.

rs1490188115 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGGCCCCGCTCC [Show Flanks]
Chromosome:: 19:18866763 (GRCh38)
19:18977573 (GRCh37)
Canonical SPDI:: NC_000019.10:18866763:AGGCCCCGCTCC:AGGCCCCGCTCCAGGCCCCGCTCC
Gene:: UPF1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGGCCCCGCTCCAGGCCCCGCTCC=0./0 (ALFA)
AGGCCCCGCTCC=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.18866764_18866775dup, NC_000019.9:g.18977573_18977584dup, NG_033056.1:g.34370_34381dup, NG_012070.1:g.34370_34381dup, NM_002911.4:c.*247_*258dup, NM_002911.3:c.*247_*258dup, XM_017027105.3:c.*247_*258dup, XM_017027105.2:c.*247_*258dup, XM_017027105.1:c.*247_*258dup, XM_017027106.3:c.*247_*258dup, XM_017027106.2:c.*247_*258dup, XM_017027106.1:c.*247_*258dup, NM_001297549.2:c.*247_*258dup, NM_001297549.1:c.*247_*258dup, XM_047439191.1:c.*247_*258dup

Select item 149018083720.

rs1490180837 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>- [Show Flanks]
Chromosome:: 19:18846442 (GRCh38)
19:18957251 (GRCh37)
Canonical SPDI:: NC_000019.10:18846440:GGG:G
Gene:: UPF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.18846442_18846443del, NC_000019.9:g.18957251_18957252del

<< First< Prev

Page of 504

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 10065

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity