SNP Links for Gene (Select 26507) - SNP

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Select item 14914935311.

rs1491493531 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:99389416 (GRCh38)
10:101149173 (GRCh37)
Canonical SPDI:: NC_000010.11:99389415:CA:
Gene:: CNNM1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00228/27 (ALFA)
HGVS:: NC_000010.11:g.99389416_99389417del, NC_000010.10:g.101149173_101149174del, NG_051577.1:g.65318_65319del

Select item 14914327352.

rs1491432735 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAA,GAAAAGAA,GAAAAGAAAAGAA,GAAAAGAAAAGAAAAGAA,GAAAGAA,GAAAGAAAAGAA,GAAAGAAAGAA,GAAAGAAAGAAAAGAA,GAAAGAAAGAAAGAAAAGAA,GAAAGAAAGAAAGAAAGAAAAGAA,GAAAGAAAGAAAGAAAGAAAGAAAAGAA,GAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAA,GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAA,GAAAGAAAGAAAGAAAGAAAGGAA,GAAAGAAAGGAA,GAAGGAA,GGAA [Show Flanks]
Chromosome:: 10:99356605 (GRCh38)
10:101116363 (GRCh37)
Canonical SPDI:: NC_000010.11:99356605:AA:AAGAA,NC_000010.11:99356605:AA:AAGAAAAGAA,NC_000010.11:99356605:AA:AAGAAAAGAAAAGAA,NC_000010.11:99356605:AA:AAGAAAAGAAAAGAAAAGAA,NC_000010.11:99356605:AA:AAGAAAGAA,NC_000010.11:99356605:AA:AAGAAAGAAAAGAA,NC_000010.11:99356605:AA:AAGAAAGAAAGAA,NC_000010.11:99356605:AA:AAGAAAGAAAGAAAAGAA,NC_000010.11:99356605:AA:AAGAAAGAAAGAAAGAAAAGAA,NC_000010.11:99356605:AA:AAGAAAGAAAGAAAGAAAGAAAAGAA,NC_000010.11:99356605:AA:AAGAAAGAAAGAAAGAAAGAAAGAAAAGAA,NC_000010.11:99356605:AA:AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAA,NC_000010.11:99356605:AA:AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAA,NC_000010.11:99356605:AA:AAGAAAGAAAGAAAGAAAGAAAGGAA,NC_000010.11:99356605:AA:AAGAAAGAAAGGAA,NC_000010.11:99356605:AA:AAGAAGGAA,NC_000010.11:99356605:AA:AAGGAA
Gene:: CNNM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGAAAAGAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.99356607_99356608insGAA, NC_000010.11:g.99356607_99356608insGAAAAGAA, NC_000010.11:g.99356607_99356608insGAAAAGAAAAGAA, NC_000010.11:g.99356607_99356608insGAAAAGAAAAGAAAAGAA, NC_000010.11:g.99356606_99356607AAGA[2]A[1], NC_000010.11:g.99356606_99356607AAGA[2]AAAGAA[1], NC_000010.11:g.99356606_99356607AAGA[3]A[1], NC_000010.11:g.99356606_99356607AAGA[3]AAAGAA[1], NC_000010.11:g.99356606_99356607AAGA[4]AAAGAA[1], NC_000010.11:g.99356606_99356607AAGA[5]AAAGAA[1], NC_000010.11:g.99356606_99356607AAGA[6]AAAGAA[1], NC_000010.11:g.99356606_99356607AAGA[7]AAAGAA[1], NC_000010.11:g.99356606_99356607AAGA[9]AAAGAA[1], NC_000010.11:g.99356606_99356607AAGA[5]AAGGAA[1], NC_000010.11:g.99356606_99356607AAGA[2]AAGGAA[1], NC_000010.11:g.99356606_99356607AAG[2]GAA[1], NC_000010.11:g.99356607_99356608insGGAA, NC_000010.10:g.101116364_101116365insGAA, NC_000010.10:g.101116364_101116365insGAAAAGAA, NC_000010.10:g.101116364_101116365insGAAAAGAAAAGAA, NC_000010.10:g.101116364_101116365insGAAAAGAAAAGAAAAGAA, NC_000010.10:g.101116363_101116364AAGA[2]A[1], NC_000010.10:g.101116363_101116364AAGA[2]AAAGAA[1], NC_000010.10:g.101116363_101116364AAGA[3]A[1], NC_000010.10:g.101116363_101116364AAGA[3]AAAGAA[1], NC_000010.10:g.101116363_101116364AAGA[4]AAAGAA[1], NC_000010.10:g.101116363_101116364AAGA[5]AAAGAA[1], NC_000010.10:g.101116363_101116364AAGA[6]AAAGAA[1], NC_000010.10:g.101116363_101116364AAGA[7]AAAGAA[1], NC_000010.10:g.101116363_101116364AAGA[9]AAAGAA[1], NC_000010.10:g.101116363_101116364AAGA[5]AAGGAA[1], NC_000010.10:g.101116363_101116364AAGA[2]AAGGAA[1], NC_000010.10:g.101116363_101116364AAG[2]GAA[1], NC_000010.10:g.101116364_101116365insGGAA, NG_051577.1:g.32509_32510insGAA, NG_051577.1:g.32509_32510insGAAAAGAA, NG_051577.1:g.32509_32510insGAAAAGAAAAGAA, NG_051577.1:g.32509_32510insGAAAAGAAAAGAAAAGAA, NG_051577.1:g.32508_32509AAGA[2]A[1], NG_051577.1:g.32508_32509AAGA[2]AAAGAA[1], NG_051577.1:g.32508_32509AAGA[3]A[1], NG_051577.1:g.32508_32509AAGA[3]AAAGAA[1], NG_051577.1:g.32508_32509AAGA[4]AAAGAA[1], NG_051577.1:g.32508_32509AAGA[5]AAAGAA[1], NG_051577.1:g.32508_32509AAGA[6]AAAGAA[1], NG_051577.1:g.32508_32509AAGA[7]AAAGAA[1], NG_051577.1:g.32508_32509AAGA[9]AAAGAA[1], NG_051577.1:g.32508_32509AAGA[5]AAGGAA[1], NG_051577.1:g.32508_32509AAGA[2]AAGGAA[1], NG_051577.1:g.32508_32509AAG[2]GAA[1], NG_051577.1:g.32509_32510insGGAA

Select item 14913063743.

rs1491306374 has merged into rs67360569 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAAA,AAATAAAA [Show Flanks]
Chromosome:: 10:99356607 (GRCh38)
10:101116364 (GRCh37)
Canonical SPDI:: NC_000010.11:99356604:AAAA:AA,NC_000010.11:99356604:AAAA:AAA,NC_000010.11:99356604:AAAA:AAAAA,NC_000010.11:99356604:AAAA:AAAAAA,NC_000010.11:99356604:AAAA:AAAAAAAA,NC_000010.11:99356604:AAAA:AAAAATAAAA
Gene:: CNNM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
-=0.00755/28 (TWINSUK)
-=0.00856/33 (ALSPAC)
HGVS:: NC_000010.11:g.99356607_99356608del, NC_000010.11:g.99356608del, NC_000010.11:g.99356608dup, NC_000010.11:g.99356607_99356608dup, NC_000010.11:g.99356605_99356608dup, NC_000010.11:g.99356605_99356608A[5]TAAAA[1], NC_000010.10:g.101116364_101116365del, NC_000010.10:g.101116365del, NC_000010.10:g.101116365dup, NC_000010.10:g.101116364_101116365dup, NC_000010.10:g.101116362_101116365dup, NC_000010.10:g.101116362_101116365A[5]TAAAA[1], NG_051577.1:g.32509_32510del, NG_051577.1:g.32510del, NG_051577.1:g.32510dup, NG_051577.1:g.32509_32510dup, NG_051577.1:g.32507_32510dup, NG_051577.1:g.32507_32510A[5]TAAAA[1]

Select item 14912091814.

rs1491209181 has merged into rs34165882 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,TT,TTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:99380028 (GRCh38)
10:101139785 (GRCh37)
Canonical SPDI:: NC_000010.11:99380021:TTTTTTTTTTTTTTTTTTTT:TTTTTT,NC_000010.11:99380021:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000010.11:99380021:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:99380021:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:99380021:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:99380021:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:99380021:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:99380021:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:99380021:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:99380021:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:99380021:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:99380021:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CNNM1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
T=0.2841/1423 (1000Genomes)
HGVS:: NC_000010.11:g.99380028_99380041del, NC_000010.11:g.99380030_99380041del, NC_000010.11:g.99380033_99380041del, NC_000010.11:g.99380036_99380041del, NC_000010.11:g.99380037_99380041del, NC_000010.11:g.99380038_99380041del, NC_000010.11:g.99380039_99380041del, NC_000010.11:g.99380040_99380041del, NC_000010.11:g.99380041del, NC_000010.11:g.99380041dup, NC_000010.11:g.99380040_99380041dup, NC_000010.11:g.99380038_99380041dup, NC_000010.10:g.101139785_101139798del, NC_000010.10:g.101139787_101139798del, NC_000010.10:g.101139790_101139798del, NC_000010.10:g.101139793_101139798del, NC_000010.10:g.101139794_101139798del, NC_000010.10:g.101139795_101139798del, NC_000010.10:g.101139796_101139798del, NC_000010.10:g.101139797_101139798del, NC_000010.10:g.101139798del, NC_000010.10:g.101139798dup, NC_000010.10:g.101139797_101139798dup, NC_000010.10:g.101139795_101139798dup, NG_051577.1:g.55930_55943del, NG_051577.1:g.55932_55943del, NG_051577.1:g.55935_55943del, NG_051577.1:g.55938_55943del, NG_051577.1:g.55939_55943del, NG_051577.1:g.55940_55943del, NG_051577.1:g.55941_55943del, NG_051577.1:g.55942_55943del, NG_051577.1:g.55943del, NG_051577.1:g.55943dup, NG_051577.1:g.55942_55943dup, NG_051577.1:g.55940_55943dup

Select item 14912045095.

rs1491204509 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 10:99380022 (GRCh38)
10:101139780 (GRCh37)
Canonical SPDI:: NC_000010.11:99380022::C
Gene:: CNNM1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00125/3 (GnomAD)
HGVS:: NC_000010.11:g.99380022_99380023insC, NC_000010.10:g.101139779_101139780insC, NG_051577.1:g.55924_55925insC

Select item 14911446546.

rs1491144654 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAAGAAAG [Show Flanks]
Chromosome:: 10:99356585 (GRCh38)
10:101116343 (GRCh37)
Canonical SPDI:: NC_000010.11:99356585:AAGAAAG:AAGAAAGGAAGAAAG
Gene:: CNNM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAGAAAGGAAGAAAG=0./0 (ALFA)
HGVS:: NC_000010.11:g.99356592_99356593insGAAGAAAG, NC_000010.10:g.101116349_101116350insGAAGAAAG, NG_051577.1:g.32494_32495insGAAGAAAG

Select item 14910891737.

rs1491089173 has merged into rs1554938699 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT,ATATATAT [Show Flanks]
Chromosome:: 10:99348050 (GRCh38)
10:101107807 (GRCh37)
Canonical SPDI:: NC_000010.11:99348038:TATATATATATAT:TATATATATAT,NC_000010.11:99348038:TATATATATATAT:TATATATATATATAT,NC_000010.11:99348038:TATATATATATAT:TATATATATATATATAT,NC_000010.11:99348038:TATATATATATAT:TATATATATATATATATAT
Gene:: CNNM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATAT=0./0 (ALFA)
-=0.000015/4 (TOPMED)
TATA=0.001129/2 (Korea1K)
TA=0.001239/20 (TOMMO)
TA=0.0952/353 (TWINSUK)
TA=0.095745/369 (ALSPAC)
HGVS:: NC_000010.11:g.99348040AT[5], NC_000010.11:g.99348040AT[7], NC_000010.11:g.99348040AT[8], NC_000010.11:g.99348040AT[9], NC_000010.10:g.101107797AT[5], NC_000010.10:g.101107797AT[7], NC_000010.10:g.101107797AT[8], NC_000010.10:g.101107797AT[9], NG_051577.1:g.23942AT[5], NG_051577.1:g.23942AT[7], NG_051577.1:g.23942AT[8], NG_051577.1:g.23942AT[9]

Select item 14910800938.

rs1491080093 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA [Show Flanks]
Chromosome:: 10:99356604 (GRCh38)
10:101116361 (GRCh37)
Canonical SPDI:: NC_000010.11:99356602:AGA:A,NC_000010.11:99356602:AGA:AGAGA
Gene:: CNNM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGAGA=0./0 (ALFA)
-=0.000031/4 (GnomAD)
HGVS:: NC_000010.11:g.99356604_99356605del, NC_000010.11:g.99356604_99356605dup, NC_000010.10:g.101116361_101116362del, NC_000010.10:g.101116361_101116362dup, NG_051577.1:g.32506_32507del, NG_051577.1:g.32506_32507dup

Select item 14910645319.

rs1491064531 has merged into rs144227322 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAA,AAAA,AAAAGAAAA,AAAGAAAA,AAAGAAAAGAAAA,AAAGAAAAGAAAAGAAAGAAAGAAAGAAAA [Show Flanks]
Chromosome:: 10:99356602 (GRCh38)
10:101116359 (GRCh37)
Canonical SPDI:: NC_000010.11:99356600:AAA:A,NC_000010.11:99356600:AAA:AAAA,NC_000010.11:99356600:AAA:AAAAA,NC_000010.11:99356600:AAA:AAAAAGAAAA,NC_000010.11:99356600:AAA:AAAAGAAAA,NC_000010.11:99356600:AAA:AAAAGAAAAGAAAA,NC_000010.11:99356600:AAA:AAAAGAAAAGAAAAGAAAGAAAGAAAGAAAA
Gene:: CNNM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.99356602_99356603del, NC_000010.11:g.99356603dup, NC_000010.11:g.99356602_99356603dup, NC_000010.11:g.99356601_99356603A[5]GAAAA[1], NC_000010.11:g.99356601_99356603A[4]GAAAA[1], NC_000010.11:g.99356601_99356603AAAAG[2]A[4], NC_000010.11:g.99356601_99356603AAAAG[3]AAAG[3]A[4], NC_000010.10:g.101116359_101116360del, NC_000010.10:g.101116360dup, NC_000010.10:g.101116359_101116360dup, NC_000010.10:g.101116358_101116360A[5]GAAAA[1], NC_000010.10:g.101116358_101116360A[4]GAAAA[1], NC_000010.10:g.101116358_101116360AAAAG[2]A[4], NC_000010.10:g.101116358_101116360AAAAG[3]AAAG[3]A[4], NG_051577.1:g.32504_32505del, NG_051577.1:g.32505dup, NG_051577.1:g.32504_32505dup, NG_051577.1:g.32503_32505A[5]GAAAA[1], NG_051577.1:g.32503_32505A[4]GAAAA[1], NG_051577.1:g.32503_32505AAAAG[2]A[4], NG_051577.1:g.32503_32505AAAAG[3]AAAG[3]A[4]

Select item 149105003810.

rs1491050038 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>- [Show Flanks]
Chromosome:: 10:99392963 (GRCh38)
10:101152720 (GRCh37)
Canonical SPDI:: NC_000010.11:99392961:CGC:C
Gene:: CNNM1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.0005/2 (ALFA)
HGVS:: NC_000010.11:g.99392963_99392964del, NC_000010.10:g.101152720_101152721del, NG_051577.1:g.68865_68866del, NM_020348.3:c.*1447_*1448del, NM_020348.2:c.*1447_*1448del, NM_001345887.2:c.*1447_*1448del, NM_001345887.1:c.*1447_*1448del, NR_144311.2:n.4331_4332del, NR_144311.1:n.4588_4589del, NM_001345889.2:c.*1447_*1448del, NM_001345889.1:c.*1447_*1448del, NM_001345888.2:c.*1447_*1448del, NM_001345888.1:c.*1447_*1448del

Select item 149104288611.

rs1491042886 has merged into rs11305524 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:99379650 (GRCh38)
10:101139407 (GRCh37)
Canonical SPDI:: NC_000010.11:99379640:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000010.11:99379640:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:99379640:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:99379640:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:99379640:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:99379640:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:99379640:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:99379640:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:99379640:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CNNM1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.3153/1579 (1000Genomes)
HGVS:: NC_000010.11:g.99379650_99379658del, NC_000010.11:g.99379655_99379658del, NC_000010.11:g.99379656_99379658del, NC_000010.11:g.99379657_99379658del, NC_000010.11:g.99379658del, NC_000010.11:g.99379658dup, NC_000010.11:g.99379657_99379658dup, NC_000010.11:g.99379656_99379658dup, NC_000010.11:g.99379650_99379658dup, NC_000010.10:g.101139407_101139415del, NC_000010.10:g.101139412_101139415del, NC_000010.10:g.101139413_101139415del, NC_000010.10:g.101139414_101139415del, NC_000010.10:g.101139415del, NC_000010.10:g.101139415dup, NC_000010.10:g.101139414_101139415dup, NC_000010.10:g.101139413_101139415dup, NC_000010.10:g.101139407_101139415dup, NG_051577.1:g.55552_55560del, NG_051577.1:g.55557_55560del, NG_051577.1:g.55558_55560del, NG_051577.1:g.55559_55560del, NG_051577.1:g.55560del, NG_051577.1:g.55560dup, NG_051577.1:g.55559_55560dup, NG_051577.1:g.55558_55560dup, NG_051577.1:g.55552_55560dup

Select item 149104286112.

rs1491042861 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA [Show Flanks]
Chromosome:: 10:99356584 (GRCh38)
10:101116341 (GRCh37)
Canonical SPDI:: NC_000010.11:99356582:AGA:A,NC_000010.11:99356582:AGA:AGAGA
Gene:: CNNM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGA=0./0 (ALFA)
-=0.000122/14 (GnomAD)
HGVS:: NC_000010.11:g.99356584_99356585del, NC_000010.11:g.99356584_99356585dup, NC_000010.10:g.101116341_101116342del, NC_000010.10:g.101116341_101116342dup, NG_051577.1:g.32486_32487del, NG_051577.1:g.32486_32487dup

Select item 149104244213.

rs1491042442 has merged into rs55670936 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AA,AAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:99381415 (GRCh38)
10:101141172 (GRCh37)
Canonical SPDI:: NC_000010.11:99381409:AAAAAAAAAAAAAAAA:AAAAA,NC_000010.11:99381409:AAAAAAAAAAAAAAAA:AAAAAAA,NC_000010.11:99381409:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000010.11:99381409:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:99381409:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:99381409:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:99381409:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:99381409:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:99381409:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:99381409:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CNNM1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
A=0.25/10 (GENOME_DK)
-=0.3762/1884 (1000Genomes)
HGVS:: NC_000010.11:g.99381415_99381425del, NC_000010.11:g.99381417_99381425del, NC_000010.11:g.99381419_99381425del, NC_000010.11:g.99381422_99381425del, NC_000010.11:g.99381423_99381425del, NC_000010.11:g.99381424_99381425del, NC_000010.11:g.99381425del, NC_000010.11:g.99381425dup, NC_000010.11:g.99381424_99381425dup, NC_000010.11:g.99381418_99381425dup, NC_000010.10:g.101141172_101141182del, NC_000010.10:g.101141174_101141182del, NC_000010.10:g.101141176_101141182del, NC_000010.10:g.101141179_101141182del, NC_000010.10:g.101141180_101141182del, NC_000010.10:g.101141181_101141182del, NC_000010.10:g.101141182del, NC_000010.10:g.101141182dup, NC_000010.10:g.101141181_101141182dup, NC_000010.10:g.101141175_101141182dup, NG_051577.1:g.57317_57327del, NG_051577.1:g.57319_57327del, NG_051577.1:g.57321_57327del, NG_051577.1:g.57324_57327del, NG_051577.1:g.57325_57327del, NG_051577.1:g.57326_57327del, NG_051577.1:g.57327del, NG_051577.1:g.57327dup, NG_051577.1:g.57326_57327dup, NG_051577.1:g.57320_57327dup

Select item 149103546214.

rs1491035462 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA,GAGAGAGAGAGAGAGAGATAGAGA [Show Flanks]
Chromosome:: 10:99356516 (GRCh38)
10:101116273 (GRCh37)
Canonical SPDI:: NC_000010.11:99356512:AGAGA:AGA,NC_000010.11:99356512:AGAGA:AGAGAGA,NC_000010.11:99356512:AGAGA:AGAGAGAGAGAGAGAGAGAGATAGAGA
Gene:: CNNM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGA=0./0 (ALFA)
-=0.00011/2 (TOMMO)
HGVS:: NC_000010.11:g.99356514GA[1], NC_000010.11:g.99356514GA[3], NC_000010.11:g.99356513_99356517AG[10]ATAGAGA[1], NC_000010.10:g.101116271GA[1], NC_000010.10:g.101116271GA[3], NC_000010.10:g.101116270_101116274AG[10]ATAGAGA[1], NG_051577.1:g.32416GA[1], NG_051577.1:g.32416GA[3], NG_051577.1:g.32415_32419AG[10]ATAGAGA[1]

Select item 149095193715.

rs1490951937 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:99361278 (GRCh38)
10:101121035 (GRCh37)
Canonical SPDI:: NC_000010.11:99361277:G:A
Gene:: CNNM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000010.11:g.99361278G>A, NC_000010.10:g.101121035G>A, NG_051577.1:g.37180G>A

Select item 149089010316.

rs1490890103 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGC>-,GGCGGC [Show Flanks]
Chromosome:: 10:99329408 (GRCh38)
10:101089165 (GRCh37)
Canonical SPDI:: NC_000010.11:99329399:GCGGCGGCGGC:GCGGCGGC,NC_000010.11:99329399:GCGGCGGCGGC:GCGGCGGCGGCGGC
Gene:: CNNM1 (Varview)
Functional Consequence:: inframe_deletion,inframe_insertion,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GCGGCGGCGGCGGC=0./0 (ALFA)
-=0.00036/8 (GnomAD_exomes)
HGVS:: NC_000010.11:g.99329402GGC[2], NC_000010.11:g.99329402GGC[4], NC_000010.10:g.101089159GGC[2], NC_000010.10:g.101089159GGC[4], NG_051577.1:g.5304GGC[2], NG_051577.1:g.5304GGC[4], NM_020348.3:c.15GGC[2], NM_020348.3:c.15GGC[4], NM_020348.2:c.15GGC[2], NM_020348.2:c.15GGC[4], NM_001345887.2:c.15GGC[2], NM_001345887.2:c.15GGC[4], NM_001345887.1:c.15GGC[2], NM_001345887.1:c.15GGC[4], NR_144311.2:n.47GGC[2], NR_144311.2:n.47GGC[4], NR_144311.1:n.304GGC[2], NR_144311.1:n.304GGC[4], NM_001345889.2:c.15GGC[2], NM_001345889.2:c.15GGC[4], NM_001345889.1:c.15GGC[2], NM_001345889.1:c.15GGC[4], NM_001345888.2:c.15GGC[2], NM_001345888.2:c.15GGC[4], NM_001345888.1:c.15GGC[2], NM_001345888.1:c.15GGC[4], XM_011539631.4:c.15GGC[2], XM_011539631.4:c.15GGC[4], XM_011539631.3:c.15GGC[2], XM_011539631.3:c.15GGC[4], XM_011539631.2:c.15GGC[2], XM_011539631.2:c.15GGC[4], XM_011539631.1:c.15GGC[2], XM_011539631.1:c.15GGC[4], XM_047425047.1:c.15GGC[2], XM_047425047.1:c.15GGC[4], NP_065081.2:p.Ala10del, NP_065081.2:p.Ala10dup, NP_001332816.1:p.Ala10del, NP_001332816.1:p.Ala10dup, NP_001332818.1:p.Ala10del, NP_001332818.1:p.Ala10dup, NP_001332817.1:p.Ala10del, NP_001332817.1:p.Ala10dup, XP_011537933.1:p.Ala10del, XP_011537933.1:p.Ala10dup, XP_047281003.1:p.Ala10del, XP_047281003.1:p.Ala10dup

Select item 149086708517.

rs1490867085 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:99346615 (GRCh38)
10:101106372 (GRCh37)
Canonical SPDI:: NC_000010.11:99346614:A:G
Gene:: CNNM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.99346615A>G, NC_000010.10:g.101106372A>G, NG_051577.1:g.22517A>G

Select item 149079987118.

rs1490799871 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 10:99386481 (GRCh38)
10:101146238 (GRCh37)
Canonical SPDI:: NC_000010.11:99386480:A:C,NC_000010.11:99386480:A:G
Gene:: CNNM1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.99386481A>C, NC_000010.11:g.99386481A>G, NC_000010.10:g.101146238A>C, NC_000010.10:g.101146238A>G, NG_051577.1:g.62383A>C, NG_051577.1:g.62383A>G

Select item 149073093319.

rs1490730933 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:99367861 (GRCh38)
10:101127618 (GRCh37)
Canonical SPDI:: NC_000010.11:99367860:G:C
Gene:: CNNM1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.99367861G>C, NC_000010.10:g.101127618G>C, NG_051577.1:g.43763G>C

Select item 149062869020.

rs1490628690 [Homo sapiens]

Variant type:: DEL
Alleles:: AGTA>- [Show Flanks]
Chromosome:: 10:99374755 (GRCh38)
10:101134512 (GRCh37)
Canonical SPDI:: NC_000010.11:99374754:AGTA:
Gene:: CNNM1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.99374755_99374758del, NC_000010.10:g.101134512_101134515del, NG_051577.1:g.50657_50660del

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