SNP Links for Nucleotide (Select 238018115) - SNP

Links from Nucleotide

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Select item 14914857191.

rs1491485719 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 10:110595939 (GRCh38)
10:112355697 (GRCh37)
Canonical SPDI:: NC_000010.11:110595938:TA:
Gene:: SMC3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.003062/50 (ALFA)
-=0.003047/404 (GnomAD)
HGVS:: NC_000010.11:g.110595939_110595940del, NC_000010.10:g.112355697_112355698del, NG_012217.1:g.33249_33250del

Select item 14914830282.

rs1491483028 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:110566317 (GRCh38)
10:112326075 (GRCh37)
Canonical SPDI:: NC_000010.11:110566316:CA:
Gene:: SMC3 (Varview), LOC105378483 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00261/31 (ALFA)
HGVS:: NC_000010.11:g.110566317_110566318del, NC_000010.10:g.112326075_112326076del, NG_012217.1:g.3627_3628del

Select item 14913671193.

rs1491367119 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 10:110573411 (GRCh38)
10:112333169 (GRCh37)
Canonical SPDI:: NC_000010.11:110573407:ATATA:ATA
Gene:: SMC3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATA=0./0 (ALFA)
-=0.00004/1 (TOMMO)
HGVS:: NC_000010.11:g.110573409TA[1], NC_000010.10:g.112333167TA[1], NG_012217.1:g.10719TA[1]

Select item 14913428194.

rs1491342819 has merged into rs59010687 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:110582941 (GRCh38)
10:112342699 (GRCh37)
Canonical SPDI:: NC_000010.11:110582931:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000010.11:110582931:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:110582931:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:110582931:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:110582931:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:110582931:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:110582931:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:110582931:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:110582931:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110582931:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: SMC3 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.000023/6 (TOPMED)
TTT=0.107335/398 (TWINSUK)
TTT=0.109756/423 (ALSPAC)
HGVS:: NC_000010.11:g.110582941_110582947del, NC_000010.11:g.110582944_110582947del, NC_000010.11:g.110582946_110582947del, NC_000010.11:g.110582947del, NC_000010.11:g.110582947dup, NC_000010.11:g.110582946_110582947dup, NC_000010.11:g.110582945_110582947dup, NC_000010.11:g.110582944_110582947dup, NC_000010.11:g.110582943_110582947dup, NC_000010.11:g.110582942_110582947dup, NC_000010.10:g.112342699_112342705del, NC_000010.10:g.112342702_112342705del, NC_000010.10:g.112342704_112342705del, NC_000010.10:g.112342705del, NC_000010.10:g.112342705dup, NC_000010.10:g.112342704_112342705dup, NC_000010.10:g.112342703_112342705dup, NC_000010.10:g.112342702_112342705dup, NC_000010.10:g.112342701_112342705dup, NC_000010.10:g.112342700_112342705dup, NG_012217.1:g.20251_20257del, NG_012217.1:g.20254_20257del, NG_012217.1:g.20256_20257del, NG_012217.1:g.20257del, NG_012217.1:g.20257dup, NG_012217.1:g.20256_20257dup, NG_012217.1:g.20255_20257dup, NG_012217.1:g.20254_20257dup, NG_012217.1:g.20253_20257dup, NG_012217.1:g.20252_20257dup

Select item 14912897745.

rs1491289774 has merged into rs58659615 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 10:110566330 (GRCh38)
10:112326088 (GRCh37)
Canonical SPDI:: NC_000010.11:110566317:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:110566317:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:110566317:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:110566317:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:110566317:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:110566317:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:110566317:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:110566317:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:110566317:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:110566317:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: SMC3 (Varview), LOC105378483 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AA=0.0315/158 (1000Genomes)
HGVS:: NC_000010.11:g.110566330_110566333del, NC_000010.11:g.110566331_110566333del, NC_000010.11:g.110566332_110566333del, NC_000010.11:g.110566333del, NC_000010.11:g.110566333dup, NC_000010.11:g.110566332_110566333dup, NC_000010.11:g.110566331_110566333dup, NC_000010.11:g.110566330_110566333dup, NC_000010.11:g.110566329_110566333dup, NC_000010.11:g.110566328_110566333dup, NC_000010.10:g.112326088_112326091del, NC_000010.10:g.112326089_112326091del, NC_000010.10:g.112326090_112326091del, NC_000010.10:g.112326091del, NC_000010.10:g.112326091dup, NC_000010.10:g.112326090_112326091dup, NC_000010.10:g.112326089_112326091dup, NC_000010.10:g.112326088_112326091dup, NC_000010.10:g.112326087_112326091dup, NC_000010.10:g.112326086_112326091dup, NG_012217.1:g.3640_3643del, NG_012217.1:g.3641_3643del, NG_012217.1:g.3642_3643del, NG_012217.1:g.3643del, NG_012217.1:g.3643dup, NG_012217.1:g.3642_3643dup, NG_012217.1:g.3641_3643dup, NG_012217.1:g.3640_3643dup, NG_012217.1:g.3639_3643dup, NG_012217.1:g.3638_3643dup

Select item 14912216856.

rs1491221685 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 10:110587707 (GRCh38)
10:112347465 (GRCh37)
Canonical SPDI:: NC_000010.11:110587705:AGA:A
Gene:: SMC3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0./0 (GnomAD)
HGVS:: NC_000010.11:g.110587707_110587708del, NC_000010.10:g.112347465_112347466del, NG_012217.1:g.25017_25018del

Select item 14911982997.

rs1491198299 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 10:110600735 (GRCh38)
10:112360494 (GRCh37)
Canonical SPDI:: NC_000010.11:110600735:A:AA
Gene:: SMC3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.110600736dup, NC_000010.10:g.112360494dup, NG_012217.1:g.38046dup

Select item 14911698058.

rs1491169805 [Homo sapiens]

Variant type:: INS
Alleles:: ->AG [Show Flanks]
Chromosome:: 10:110587706 (GRCh38)
10:112347465 (GRCh37)
Canonical SPDI:: NC_000010.11:110587706::AG
Gene:: SMC3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AG=0./0 (ALFA)
AG=0.000022/3 (GnomAD)
HGVS:: NC_000010.11:g.110587706_110587707insAG, NC_000010.10:g.112347464_112347465insAG, NG_012217.1:g.25016_25017insAG

Select item 14911539319.

rs1491153931 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 10:110600558 (GRCh38)
10:112360317 (GRCh37)
Canonical SPDI:: NC_000010.11:110600558::G
Gene:: SMC3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000010.11:g.110600558_110600559insG, NC_000010.10:g.112360316_112360317insG, NG_012217.1:g.37868_37869insG

Select item 149115057210.

rs1491150572 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 10:110592278 (GRCh38)
10:112352036 (GRCh37)
Canonical SPDI:: NC_000010.11:110592277:AT:
Gene:: SMC3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.110592278_110592279del, NC_000010.10:g.112352036_112352037del, NG_012217.1:g.29588_29589del

Select item 149111086911.

rs1491110869 has merged into rs11347729 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 10:110597153 (GRCh38)
10:112356911 (GRCh37)
Canonical SPDI:: NC_000010.11:110597143:AAAAAAAAAAAAAAA:AAAAAAAAA,NC_000010.11:110597143:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:110597143:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:110597143:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:110597143:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:110597143:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:110597143:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:110597143:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: SMC3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.110597153_110597158del, NC_000010.11:g.110597154_110597158del, NC_000010.11:g.110597155_110597158del, NC_000010.11:g.110597156_110597158del, NC_000010.11:g.110597157_110597158del, NC_000010.11:g.110597158del, NC_000010.11:g.110597158dup, NC_000010.11:g.110597157_110597158dup, NC_000010.10:g.112356911_112356916del, NC_000010.10:g.112356912_112356916del, NC_000010.10:g.112356913_112356916del, NC_000010.10:g.112356914_112356916del, NC_000010.10:g.112356915_112356916del, NC_000010.10:g.112356916del, NC_000010.10:g.112356916dup, NC_000010.10:g.112356915_112356916dup, NG_012217.1:g.34463_34468del, NG_012217.1:g.34464_34468del, NG_012217.1:g.34465_34468del, NG_012217.1:g.34466_34468del, NG_012217.1:g.34467_34468del, NG_012217.1:g.34468del, NG_012217.1:g.34468dup, NG_012217.1:g.34467_34468dup

Select item 149110946712.

rs1491109467 [Homo sapiens]

Variant type:: INS
Alleles:: ->GATATTTT [Show Flanks]
Chromosome:: 10:110576354 (GRCh38)
10:112336113 (GRCh37)
Canonical SPDI:: NC_000010.11:110576354::GATATTTT
Gene:: SMC3 (Varview), LOC124902586 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GATATTTT=0./0 (ALFA)
GATATTTT=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.110576354_110576355insGATATTTT, NC_000010.10:g.112336112_112336113insGATATTTT, NG_012217.1:g.13664_13665insGATATTTT

Select item 149109476213.

rs1491094762 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:110597143 (GRCh38)
10:112356901 (GRCh37)
Canonical SPDI:: NC_000010.11:110597142:CA:
Gene:: SMC3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.00004/1 (GnomAD)
HGVS:: NC_000010.11:g.110597143_110597144del, NC_000010.10:g.112356901_112356902del, NG_012217.1:g.34453_34454del

Select item 149108859514.

rs1491088595 has merged into rs111694406 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:110585302 (GRCh38)
10:112345060 (GRCh37)
Canonical SPDI:: NC_000010.11:110585290:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:110585290:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:110585290:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:110585290:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:110585290:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:110585290:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:110585290:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:110585290:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:110585290:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110585290:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110585290:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: SMC3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.15915/797 (1000Genomes)
HGVS:: NC_000010.11:g.110585302_110585308del, NC_000010.11:g.110585303_110585308del, NC_000010.11:g.110585304_110585308del, NC_000010.11:g.110585306_110585308del, NC_000010.11:g.110585307_110585308del, NC_000010.11:g.110585308del, NC_000010.11:g.110585308dup, NC_000010.11:g.110585307_110585308dup, NC_000010.11:g.110585306_110585308dup, NC_000010.11:g.110585305_110585308dup, NC_000010.11:g.110585304_110585308dup, NC_000010.10:g.112345060_112345066del, NC_000010.10:g.112345061_112345066del, NC_000010.10:g.112345062_112345066del, NC_000010.10:g.112345064_112345066del, NC_000010.10:g.112345065_112345066del, NC_000010.10:g.112345066del, NC_000010.10:g.112345066dup, NC_000010.10:g.112345065_112345066dup, NC_000010.10:g.112345064_112345066dup, NC_000010.10:g.112345063_112345066dup, NC_000010.10:g.112345062_112345066dup, NG_012217.1:g.22612_22618del, NG_012217.1:g.22613_22618del, NG_012217.1:g.22614_22618del, NG_012217.1:g.22616_22618del, NG_012217.1:g.22617_22618del, NG_012217.1:g.22618del, NG_012217.1:g.22618dup, NG_012217.1:g.22617_22618dup, NG_012217.1:g.22616_22618dup, NG_012217.1:g.22615_22618dup, NG_012217.1:g.22614_22618dup

Select item 149106122815.

rs1491061228 has merged into rs59798192 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:110581226 (GRCh38)
10:112340984 (GRCh37)
Canonical SPDI:: NC_000010.11:110581216:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000010.11:110581216:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:110581216:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:110581216:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:110581216:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:110581216:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:110581216:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:110581216:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:110581216:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110581216:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110581216:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:110581216:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SMC3 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0.3383/1694 (1000Genomes)
HGVS:: NC_000010.11:g.110581226_110581235del, NC_000010.11:g.110581230_110581235del, NC_000010.11:g.110581231_110581235del, NC_000010.11:g.110581232_110581235del, NC_000010.11:g.110581233_110581235del, NC_000010.11:g.110581234_110581235del, NC_000010.11:g.110581235del, NC_000010.11:g.110581235dup, NC_000010.11:g.110581234_110581235dup, NC_000010.11:g.110581233_110581235dup, NC_000010.11:g.110581232_110581235dup, NC_000010.11:g.110581228_110581235dup, NC_000010.10:g.112340984_112340993del, NC_000010.10:g.112340988_112340993del, NC_000010.10:g.112340989_112340993del, NC_000010.10:g.112340990_112340993del, NC_000010.10:g.112340991_112340993del, NC_000010.10:g.112340992_112340993del, NC_000010.10:g.112340993del, NC_000010.10:g.112340993dup, NC_000010.10:g.112340992_112340993dup, NC_000010.10:g.112340991_112340993dup, NC_000010.10:g.112340990_112340993dup, NC_000010.10:g.112340986_112340993dup, NG_012217.1:g.18536_18545del, NG_012217.1:g.18540_18545del, NG_012217.1:g.18541_18545del, NG_012217.1:g.18542_18545del, NG_012217.1:g.18543_18545del, NG_012217.1:g.18544_18545del, NG_012217.1:g.18545del, NG_012217.1:g.18545dup, NG_012217.1:g.18544_18545dup, NG_012217.1:g.18543_18545dup, NG_012217.1:g.18542_18545dup, NG_012217.1:g.18538_18545dup

Select item 149104687316.

rs1491046873 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 10:110594994 (GRCh38)
10:112354752 (GRCh37)
Canonical SPDI:: NC_000010.11:110594992:TAT:T
Gene:: SMC3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000015/2 (GnomAD)
HGVS:: NC_000010.11:g.110594994_110594995del, NC_000010.10:g.112354752_112354753del, NG_012217.1:g.32304_32305del

Select item 149100502017.

rs1491005020 has merged into rs35132779 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 10:110568776 (GRCh38)
10:112328534 (GRCh37)
Canonical SPDI:: NC_000010.11:110568767:TTTTTTTTTTTTT:TTTTTTTT,NC_000010.11:110568767:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:110568767:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:110568767:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:110568767:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:110568767:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:110568767:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:110568767:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:110568767:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: SMC3 (Varview), LOC105378483 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0.157649/41728 (TOPMED)
T=0.2/8 (GENOME_DK)
HGVS:: NC_000010.11:g.110568776_110568780del, NC_000010.11:g.110568779_110568780del, NC_000010.11:g.110568780del, NC_000010.11:g.110568780dup, NC_000010.11:g.110568779_110568780dup, NC_000010.11:g.110568778_110568780dup, NC_000010.11:g.110568777_110568780dup, NC_000010.11:g.110568776_110568780dup, NC_000010.11:g.110568775_110568780dup, NC_000010.10:g.112328534_112328538del, NC_000010.10:g.112328537_112328538del, NC_000010.10:g.112328538del, NC_000010.10:g.112328538dup, NC_000010.10:g.112328537_112328538dup, NC_000010.10:g.112328536_112328538dup, NC_000010.10:g.112328535_112328538dup, NC_000010.10:g.112328534_112328538dup, NC_000010.10:g.112328533_112328538dup, NG_012217.1:g.6086_6090del, NG_012217.1:g.6089_6090del, NG_012217.1:g.6090del, NG_012217.1:g.6090dup, NG_012217.1:g.6089_6090dup, NG_012217.1:g.6088_6090dup, NG_012217.1:g.6087_6090dup, NG_012217.1:g.6086_6090dup, NG_012217.1:g.6085_6090dup

Select item 149099661018.

rs1490996610 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:110589915 (GRCh38)
10:112349673 (GRCh37)
Canonical SPDI:: NC_000010.11:110589914:C:G
Gene:: SMC3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.110589915C>G, NC_000010.10:g.112349673C>G, NG_012217.1:g.27225C>G, NM_005445.4:c.1433C>G, NM_005445.3:c.1433C>G, NP_005436.1:p.Ala478Gly

Select item 149071842519.

rs1490718425 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 10:110572368 (GRCh38)
10:112332127 (GRCh37)
Canonical SPDI:: NC_000010.11:110572368:CCCCC:CCCCCC
Gene:: SMC3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCC=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.110572373dup, NC_000010.10:g.112332131dup, NG_012217.1:g.9683dup

Select item 149070831820.

rs1490708318 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:110571478 (GRCh38)
10:112331236 (GRCh37)
Canonical SPDI:: NC_000010.11:110571477:G:T
Gene:: SMC3 (Varview)
Functional Consequence:: intron_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_000010.11:g.110571478G>T, NC_000010.10:g.112331236G>T, NG_012217.1:g.8788G>T

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