SNP Links for Gene (Select 55156) - SNP

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Select item 14915820921.

rs1491582092 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->GAA
Chromosome:: no mapping
Canonical SPDI:

Select item 14915807132.

rs1491580713 has merged into rs56044753 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:65629808 (GRCh38)
8:66542043 (GRCh37)
Canonical SPDI:: NC_000008.11:65629798:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000008.11:65629798:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:65629798:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:65629798:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:65629798:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:65629798:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:65629798:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:65629798:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:65629798:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:65629798:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:65629798:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:65629798:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: ARMC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
AA=0.3784/1895 (1000Genomes)
HGVS:: NC_000008.11:g.65629808_65629818del, NC_000008.11:g.65629810_65629818del, NC_000008.11:g.65629812_65629818del, NC_000008.11:g.65629813_65629818del, NC_000008.11:g.65629814_65629818del, NC_000008.11:g.65629815_65629818del, NC_000008.11:g.65629816_65629818del, NC_000008.11:g.65629817_65629818del, NC_000008.11:g.65629818del, NC_000008.11:g.65629818dup, NC_000008.11:g.65629817_65629818dup, NC_000008.11:g.65629816_65629818dup, NC_000008.10:g.66542043_66542053del, NC_000008.10:g.66542045_66542053del, NC_000008.10:g.66542047_66542053del, NC_000008.10:g.66542048_66542053del, NC_000008.10:g.66542049_66542053del, NC_000008.10:g.66542050_66542053del, NC_000008.10:g.66542051_66542053del, NC_000008.10:g.66542052_66542053del, NC_000008.10:g.66542053del, NC_000008.10:g.66542053dup, NC_000008.10:g.66542052_66542053dup, NC_000008.10:g.66542051_66542053dup

Select item 14915715373.

rs1491571537 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 8:65631941 (GRCh38)
8:66544176 (GRCh37)
Canonical SPDI:: NC_000008.11:65631938:ATAT:AT,NC_000008.11:65631938:ATAT:ATATAT
Gene:: ARMC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000008.11:g.65631939AT[1], NC_000008.11:g.65631939AT[3], NC_000008.10:g.66544174AT[1], NC_000008.10:g.66544174AT[3]

Select item 14915414534.

rs1491541453 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 8:65632837 (GRCh38)
8:66545072 (GRCh37)
Canonical SPDI:: NC_000008.11:65632835:ATA:A
Gene:: ARMC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.65632837_65632838del, NC_000008.10:g.66545072_66545073del

Select item 14915311475.

rs1491531147 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 8:65615400 (GRCh38)
8:66527635 (GRCh37)
Canonical SPDI:: NC_000008.11:65615399:TA:
Gene:: ARMC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.65615400_65615401del, NC_000008.10:g.66527635_66527636del

Select item 14915223046.

rs1491522304 has merged into rs35519675 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:65609866 (GRCh38)
8:66522101 (GRCh37)
Canonical SPDI:: NC_000008.11:65609857:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000008.11:65609857:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000008.11:65609857:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:65609857:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:65609857:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:65609857:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:65609857:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:65609857:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:65609857:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:65609857:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:65609857:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:65609857:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:65609857:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:65609857:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:65609857:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:65609857:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:65609857:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:65609857:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:65609857:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:65609857:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:65609857:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:65609857:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:65609857:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ARMC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.325/13 (GENOME_DK)
HGVS:: NC_000008.11:g.65609866_65609876del, NC_000008.11:g.65609867_65609876del, NC_000008.11:g.65609869_65609876del, NC_000008.11:g.65609873_65609876del, NC_000008.11:g.65609874_65609876del, NC_000008.11:g.65609875_65609876del, NC_000008.11:g.65609876del, NC_000008.11:g.65609876dup, NC_000008.11:g.65609875_65609876dup, NC_000008.11:g.65609874_65609876dup, NC_000008.11:g.65609873_65609876dup, NC_000008.11:g.65609872_65609876dup, NC_000008.11:g.65609871_65609876dup, NC_000008.11:g.65609870_65609876dup, NC_000008.11:g.65609869_65609876dup, NC_000008.11:g.65609868_65609876dup, NC_000008.11:g.65609867_65609876dup, NC_000008.11:g.65609866_65609876dup, NC_000008.11:g.65609865_65609876dup, NC_000008.11:g.65609860_65609876dup, NC_000008.11:g.65609858_65609876dup, NC_000008.11:g.65609876_65609877insAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.65609876_65609877insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.66522101_66522111del, NC_000008.10:g.66522102_66522111del, NC_000008.10:g.66522104_66522111del, NC_000008.10:g.66522108_66522111del, NC_000008.10:g.66522109_66522111del, NC_000008.10:g.66522110_66522111del, NC_000008.10:g.66522111del, NC_000008.10:g.66522111dup, NC_000008.10:g.66522110_66522111dup, NC_000008.10:g.66522109_66522111dup, NC_000008.10:g.66522108_66522111dup, NC_000008.10:g.66522107_66522111dup, NC_000008.10:g.66522106_66522111dup, NC_000008.10:g.66522105_66522111dup, NC_000008.10:g.66522104_66522111dup, NC_000008.10:g.66522103_66522111dup, NC_000008.10:g.66522102_66522111dup, NC_000008.10:g.66522101_66522111dup, NC_000008.10:g.66522100_66522111dup, NC_000008.10:g.66522095_66522111dup, NC_000008.10:g.66522093_66522111dup, NC_000008.10:g.66522111_66522112insAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.66522111_66522112insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14913326627.

rs1491332662 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:65629798 (GRCh38)
8:66542033 (GRCh37)
Canonical SPDI:: NC_000008.11:65629797:CA:
Gene:: ARMC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01619/192 (ALFA)
-=0.00102/44 (GnomAD)
HGVS:: NC_000008.11:g.65629798_65629799del, NC_000008.10:g.66542033_66542034del

Select item 14912352818.

rs1491235281 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 8:65632836 (GRCh38)
8:66545072 (GRCh37)
Canonical SPDI:: NC_000008.11:65632836::G
Gene:: ARMC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.65632836_65632837insG, NC_000008.10:g.66545071_66545072insG

Select item 14912344679.

rs1491234467 has merged into rs10612716 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:65615411 (GRCh38)
8:66527646 (GRCh37)
Canonical SPDI:: NC_000008.11:65615400:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:65615400:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:65615400:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:65615400:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:65615400:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:65615400:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:65615400:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:65615400:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:65615400:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ARMC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.1843/923 (1000Genomes)
HGVS:: NC_000008.11:g.65615411_65615419del, NC_000008.11:g.65615415_65615419del, NC_000008.11:g.65615416_65615419del, NC_000008.11:g.65615417_65615419del, NC_000008.11:g.65615418_65615419del, NC_000008.11:g.65615419del, NC_000008.11:g.65615419dup, NC_000008.11:g.65615418_65615419dup, NC_000008.11:g.65615415_65615419dup, NC_000008.10:g.66527646_66527654del, NC_000008.10:g.66527650_66527654del, NC_000008.10:g.66527651_66527654del, NC_000008.10:g.66527652_66527654del, NC_000008.10:g.66527653_66527654del, NC_000008.10:g.66527654del, NC_000008.10:g.66527654dup, NC_000008.10:g.66527653_66527654dup, NC_000008.10:g.66527650_66527654dup

Select item 149119215110.

rs1491192151 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:65609857 (GRCh38)
8:66522092 (GRCh37)
Canonical SPDI:: NC_000008.11:65609856:CA:
Gene:: ARMC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00101/12 (ALFA)
HGVS:: NC_000008.11:g.65609857_65609858del, NC_000008.10:g.66522092_66522093del

Select item 149108983011.

rs1491089830 has merged into rs755112362 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:65620306 (GRCh38)
8:66532541 (GRCh37)
Canonical SPDI:: NC_000008.11:65620294:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:65620294:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:65620294:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:65620294:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:65620294:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:65620294:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:65620294:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:65620294:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:65620294:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:65620294:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:65620294:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:65620294:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:65620294:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:65620294:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:65620294:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:65620294:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:65620294:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:65620294:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:65620294:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:65620294:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:65620294:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:65620294:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:65620294:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ARMC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
TTTTTT=0.425/17 (GENOME_DK)
HGVS:: NC_000008.11:g.65620306_65620319del, NC_000008.11:g.65620307_65620319del, NC_000008.11:g.65620308_65620319del, NC_000008.11:g.65620309_65620319del, NC_000008.11:g.65620310_65620319del, NC_000008.11:g.65620311_65620319del, NC_000008.11:g.65620312_65620319del, NC_000008.11:g.65620313_65620319del, NC_000008.11:g.65620314_65620319del, NC_000008.11:g.65620315_65620319del, NC_000008.11:g.65620316_65620319del, NC_000008.11:g.65620317_65620319del, NC_000008.11:g.65620318_65620319del, NC_000008.11:g.65620319del, NC_000008.11:g.65620319dup, NC_000008.11:g.65620318_65620319dup, NC_000008.11:g.65620317_65620319dup, NC_000008.11:g.65620316_65620319dup, NC_000008.11:g.65620315_65620319dup, NC_000008.11:g.65620314_65620319dup, NC_000008.11:g.65620313_65620319dup, NC_000008.11:g.65620302_65620319dup, NC_000008.11:g.65620297_65620319dup, NC_000008.10:g.66532541_66532554del, NC_000008.10:g.66532542_66532554del, NC_000008.10:g.66532543_66532554del, NC_000008.10:g.66532544_66532554del, NC_000008.10:g.66532545_66532554del, NC_000008.10:g.66532546_66532554del, NC_000008.10:g.66532547_66532554del, NC_000008.10:g.66532548_66532554del, NC_000008.10:g.66532549_66532554del, NC_000008.10:g.66532550_66532554del, NC_000008.10:g.66532551_66532554del, NC_000008.10:g.66532552_66532554del, NC_000008.10:g.66532553_66532554del, NC_000008.10:g.66532554del, NC_000008.10:g.66532554dup, NC_000008.10:g.66532553_66532554dup, NC_000008.10:g.66532552_66532554dup, NC_000008.10:g.66532551_66532554dup, NC_000008.10:g.66532550_66532554dup, NC_000008.10:g.66532549_66532554dup, NC_000008.10:g.66532548_66532554dup, NC_000008.10:g.66532537_66532554dup, NC_000008.10:g.66532532_66532554dup

Select item 149108350212.

rs1491083502 has merged into rs36010251 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 8:65613972 (GRCh38)
8:66526207 (GRCh37)
Canonical SPDI:: NC_000008.11:65613959:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:65613959:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:65613959:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:65613959:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:65613959:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:65613959:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: ARMC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.3526/1766 (1000Genomes)
HGVS:: NC_000008.11:g.65613972_65613973del, NC_000008.11:g.65613973del, NC_000008.11:g.65613973dup, NC_000008.11:g.65613972_65613973dup, NC_000008.11:g.65613971_65613973dup, NC_000008.11:g.65613970_65613973dup, NC_000008.10:g.66526207_66526208del, NC_000008.10:g.66526208del, NC_000008.10:g.66526208dup, NC_000008.10:g.66526207_66526208dup, NC_000008.10:g.66526206_66526208dup, NC_000008.10:g.66526205_66526208dup

Select item 149089318313.

rs1490893183 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:65629861 (GRCh38)
8:66542096 (GRCh37)
Canonical SPDI:: NC_000008.11:65629860:G:A
Gene:: ARMC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.65629861G>A, NC_000008.10:g.66542096G>A

Select item 149072025114.

rs1490720251 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:65619956 (GRCh38)
8:66532191 (GRCh37)
Canonical SPDI:: NC_000008.11:65619955:C:G
Gene:: ARMC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.65619956C>G, NC_000008.10:g.66532191C>G

Select item 149067532415.

rs1490675324 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 8:65623791 (GRCh38)
8:66536027 (GRCh37)
Canonical SPDI:: NC_000008.11:65623791::C
Gene:: ARMC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000009/1 (GnomAD)
HGVS:: NC_000008.11:g.65623791_65623792insC, NC_000008.10:g.66536026_66536027insC

Select item 149053043816.

rs1490530438 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:65618839 (GRCh38)
8:66531074 (GRCh37)
Canonical SPDI:: NC_000008.11:65618838:C:T
Gene:: ARMC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000035/1 (TOMMO)
T=0.000043/6 (GnomAD)
HGVS:: NC_000008.11:g.65618839C>T, NC_000008.10:g.66531074C>T

Select item 149050308917.

rs1490503089 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:65634484 (GRCh38)
8:66546719 (GRCh37)
Canonical SPDI:: NC_000008.11:65634483:G:A,NC_000008.11:65634483:G:C
Gene:: ARMC1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.65634484G>A, NC_000008.11:g.65634484G>C, NC_000008.10:g.66546719G>A, NC_000008.10:g.66546719G>C

Select item 149045029818.

rs1490450298 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:65602010 (GRCh38)
8:66514245 (GRCh37)
Canonical SPDI:: NC_000008.11:65602009:A:G
Gene:: ARMC1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.65602010A>G, NC_000008.10:g.66514245A>G

Select item 149037431119.

rs1490374311 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:65623182 (GRCh38)
8:66535417 (GRCh37)
Canonical SPDI:: NC_000008.11:65623181:C:T
Gene:: ARMC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.65623182C>T, NC_000008.10:g.66535417C>T

Select item 149034905020.

rs1490349050 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:65623268 (GRCh38)
8:66535503 (GRCh37)
Canonical SPDI:: NC_000008.11:65623267:G:A
Gene:: ARMC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000009/1 (GnomAD)
HGVS:: NC_000008.11:g.65623268G>A, NC_000008.10:g.66535503G>A

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