CALML4 - SNP

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Select item 81421.

rs8142 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:68207323 (GRCh38)
15:68499661 (GRCh37)
Canonical SPDI:: NC_000015.10:68207322:G:A,NC_000015.10:68207322:G:C
Gene:: CLN6 (Varview), CALML4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.497468/24760 (ALFA)
A=0.136245/2283 (TOMMO)
A=0.147926/271 (Korea1K)
A=0.151877/445 (KOREAN)
A=0.193396/41 (Vietnamese)
G=0.3/12 (GENOME_DK)
G=0.315789/12 (Siberian)
G=0.363372/125 (SGDP_PRJ)
A=0.409432/2050 (1000Genomes)
G=0.41483/414 (GoNL)
A=0.430556/93 (Qatari)
G=0.440062/1696 (ALSPAC)
G=0.442017/1639 (TWINSUK)
G=0.448333/269 (NorthernSweden)
G=0.489192/68526 (GnomAD)
A=0.497321/2228 (Estonian)
G=0.498995/132079 (TOPMED)
HGVS:: NC_000015.10:g.68207323G>A, NC_000015.10:g.68207323G>C, NC_000015.9:g.68499661G>A, NC_000015.9:g.68499661G>C, NG_008764.2:g.54889C>T, NG_008764.2:g.54889C>G, NM_017882.3:c.*817C>T, NM_017882.3:c.*817C>G, NM_017882.2:c.*817C>T, NM_017882.2:c.*817C>G, NM_001411068.1:c.*817C>T, NM_001411068.1:c.*817C>G, XM_047432780.1:c.*817C>T, XM_047432780.1:c.*817C>G

Select item 38376922.

rs3837692 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACAC>-,AC,ACAC,ACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC [Show Flanks]
Chromosome:: 15:68207992 (GRCh38)
15:68500330 (GRCh37)
Canonical SPDI:: NC_000015.10:68207979:ACACACACACACACACACAC:ACACACACACAC,NC_000015.10:68207979:ACACACACACACACACACAC:ACACACACACACAC,NC_000015.10:68207979:ACACACACACACACACACAC:ACACACACACACACAC,NC_000015.10:68207979:ACACACACACACACACACAC:ACACACACACACACACAC,NC_000015.10:68207979:ACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000015.10:68207979:ACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000015.10:68207979:ACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000015.10:68207979:ACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000015.10:68207979:ACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000015.10:68207979:ACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000015.10:68207979:ACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC
Gene:: CLN6 (Varview), CALML4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Clinical significance:: uncertain-significance,benign,conflicting-interpretations-of-pathogenicity,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACAC=0./0 (ALFA)
ACACAC=0.0226/113 (1000Genomes)
HGVS:: NC_000015.10:g.68207980AC[6], NC_000015.10:g.68207980AC[7], NC_000015.10:g.68207980AC[8], NC_000015.10:g.68207980AC[9], NC_000015.10:g.68207980AC[11], NC_000015.10:g.68207980AC[12], NC_000015.10:g.68207980AC[13], NC_000015.10:g.68207980AC[14], NC_000015.10:g.68207980AC[15], NC_000015.10:g.68207980AC[16], NC_000015.10:g.68207980AC[17], NC_000015.9:g.68500318AC[6], NC_000015.9:g.68500318AC[7], NC_000015.9:g.68500318AC[8], NC_000015.9:g.68500318AC[9], NC_000015.9:g.68500318AC[11], NC_000015.9:g.68500318AC[12], NC_000015.9:g.68500318AC[13], NC_000015.9:g.68500318AC[14], NC_000015.9:g.68500318AC[15], NC_000015.9:g.68500318AC[16], NC_000015.9:g.68500318AC[17], NG_008764.2:g.54213GT[6], NG_008764.2:g.54213GT[7], NG_008764.2:g.54213GT[8], NG_008764.2:g.54213GT[9], NG_008764.2:g.54213GT[11], NG_008764.2:g.54213GT[12], NG_008764.2:g.54213GT[13], NG_008764.2:g.54213GT[14], NG_008764.2:g.54213GT[15], NG_008764.2:g.54213GT[16], NG_008764.2:g.54213GT[17], NM_017882.3:c.*141GT[6], NM_017882.3:c.*141GT[7], NM_017882.3:c.*141GT[8], NM_017882.3:c.*141GT[9], NM_017882.3:c.*141GT[11], NM_017882.3:c.*141GT[12], NM_017882.3:c.*141GT[13], NM_017882.3:c.*141GT[14], NM_017882.3:c.*141GT[15], NM_017882.3:c.*141GT[16], NM_017882.3:c.*141GT[17], NM_017882.2:c.*141GT[6], NM_017882.2:c.*141GT[7], NM_017882.2:c.*141GT[8], NM_017882.2:c.*141GT[9], NM_017882.2:c.*141GT[11], NM_017882.2:c.*141GT[12], NM_017882.2:c.*141GT[13], NM_017882.2:c.*141GT[14], NM_017882.2:c.*141GT[15], NM_017882.2:c.*141GT[16], NM_017882.2:c.*141GT[17], NM_001411068.1:c.*141GT[6], NM_001411068.1:c.*141GT[7], NM_001411068.1:c.*141GT[8], NM_001411068.1:c.*141GT[9], NM_001411068.1:c.*141GT[11], NM_001411068.1:c.*141GT[12], NM_001411068.1:c.*141GT[13], NM_001411068.1:c.*141GT[14], NM_001411068.1:c.*141GT[15], NM_001411068.1:c.*141GT[16], NM_001411068.1:c.*141GT[17], XM_047432780.1:c.*141GT[6], XM_047432780.1:c.*141GT[7], XM_047432780.1:c.*141GT[8], XM_047432780.1:c.*141GT[9], XM_047432780.1:c.*141GT[11], XM_047432780.1:c.*141GT[12], XM_047432780.1:c.*141GT[13], XM_047432780.1:c.*141GT[14], XM_047432780.1:c.*141GT[15], XM_047432780.1:c.*141GT[16], XM_047432780.1:c.*141GT[17]

Select item 64947203.

rs6494720 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:68207125 (GRCh38)
15:68499463 (GRCh37)
Canonical SPDI:: NC_000015.10:68207124:A:G
Gene:: CLN6 (Varview), CALML4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.041609/786 (ALFA)
G=0.003333/2 (NorthernSweden)
G=0.004687/21 (Estonian)
G=0.008016/8 (GoNL)
G=0.00836/31 (TWINSUK)
G=0.009081/35 (ALSPAC)
G=0.025/1 (GENOME_DK)
G=0.032407/7 (Qatari)
G=0.035934/105 (KOREAN)
G=0.040095/672 (TOMMO)
G=0.045852/84 (Korea1K)
G=0.072803/10201 (GnomAD)
G=0.077861/20609 (TOPMED)
G=0.081199/407 (1000Genomes)
A=0.45/27 (SGDP_PRJ)
HGVS:: NC_000015.10:g.68207125A>G, NC_000015.9:g.68499463A>G, NG_008764.2:g.55087T>C, NM_017882.3:c.*1015T>C, NM_017882.2:c.*1015T>C, NM_001411068.1:c.*1015T>C, XM_047432780.1:c.*1015T>C

Select item 80282414.

rs8028241 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:68206983 (GRCh38)
15:68499321 (GRCh37)
Canonical SPDI:: NC_000015.10:68206982:T:C
Gene:: CLN6 (Varview), CALML4 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.437118/64593 (ALFA)
C=0.176304/2955 (TOMMO)
C=0.186348/546 (KOREAN)
C=0.193777/355 (Korea1K)
T=0.275/11 (GENOME_DK)
T=0.315789/12 (Siberian)
T=0.332447/125 (SGDP_PRJ)
T=0.408818/408 (GoNL)
T=0.414888/58076 (GnomAD)
T=0.419785/111113 (TOPMED)
T=0.433316/1670 (ALSPAC)
T=0.437972/1624 (TWINSUK)
T=0.446667/268 (NorthernSweden)
C=0.462963/100 (Qatari)
T=0.471398/890 (HapMap)
C=0.494379/2476 (1000Genomes)
C=0.498884/2235 (Estonian)
HGVS:: NC_000015.10:g.68206983T>C, NC_000015.9:g.68499321T>C, NG_008764.2:g.55229A>G

Select item 80331905.

rs8033190 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:68207450 (GRCh38)
15:68499788 (GRCh37)
Canonical SPDI:: NC_000015.10:68207449:T:C
Gene:: CLN6 (Varview), CALML4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.020768/2507 (ALFA)
C=0.003333/2 (NorthernSweden)
C=0.004687/21 (Estonian)
C=0.008016/8 (GoNL)
C=0.00836/31 (TWINSUK)
C=0.009081/35 (ALSPAC)
C=0.025/1 (GENOME_DK)
C=0.032407/7 (Qatari)
C=0.032407/7 (Vietnamese)
C=0.035616/104 (KOREAN)
C=0.040059/671 (TOMMO)
C=0.045852/84 (Korea1K)
C=0.072624/10174 (GnomAD)
C=0.077782/20588 (TOPMED)
C=0.080887/405 (1000Genomes)
C=0.100117/171 (HapMap)
T=0.45/27 (SGDP_PRJ)
HGVS:: NC_000015.10:g.68207450T>C, NC_000015.9:g.68499788T>C, NG_008764.2:g.54762A>G, NM_017882.3:c.*690A>G, NM_017882.2:c.*690A>G, NM_001411068.1:c.*690A>G, XM_047432780.1:c.*690A>G

Select item 570582896.

rs57058289 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:68208065 (GRCh38)
15:68500403 (GRCh37)
Canonical SPDI:: NC_000015.10:68208064:C:G,NC_000015.10:68208064:C:T
Gene:: CLN6 (Varview), CALML4 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.003113/52 (ALFA)
G=0.000035/1 (TOMMO)
G=0.000446/2 (Estonian)
G=0.001816/7 (ALSPAC)
G=0.001873/1 (MGP)
G=0.002427/9 (TWINSUK)
G=0.003666/514 (GnomAD)
G=0.004303/1139 (TOPMED)
G=0.00609/30 (1000Genomes)
G=0.018519/4 (Qatari)
C=0.5/10 (SGDP_PRJ)
HGVS:: NC_000015.10:g.68208065C>G, NC_000015.10:g.68208065C>T, NC_000015.9:g.68500403C>G, NC_000015.9:g.68500403C>T, NG_008764.2:g.54147G>C, NG_008764.2:g.54147G>A, NM_017882.3:c.*75G>C, NM_017882.3:c.*75G>A, NM_017882.2:c.*75G>C, NM_017882.2:c.*75G>A, NM_001411068.1:c.*75G>C, NM_001411068.1:c.*75G>A, XM_047432780.1:c.*75G>C, XM_047432780.1:c.*75G>A

Select item 1118795617.

rs111879561 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 15:68207473 (GRCh38)
15:68499811 (GRCh37)
Canonical SPDI:: NC_000015.10:68207472:C:A,NC_000015.10:68207472:C:G,NC_000015.10:68207472:C:T
Gene:: CLN6 (Varview), CALML4 (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00139/26 (ALFA)
T=0.00333/2 (NorthernSweden)
T=0.00469/21 (Estonian)
T=0.00802/8 (GoNL)
T=0.0083/32 (ALSPAC)
T=0.00836/31 (TWINSUK)
T=0.01046/52 (1000Genomes)
T=0.025/1 (GENOME_DK)
T=0.03241/7 (Vietnamese)
T=0.03388/99 (KOREAN)
T=0.03925/658 (TOMMO)
T=0.04531/83 (Korea1K)
C=0.5/7 (SGDP_PRJ)
HGVS:: NC_000015.10:g.68207473C>A, NC_000015.10:g.68207473C>G, NC_000015.10:g.68207473C>T, NC_000015.9:g.68499811C>A, NC_000015.9:g.68499811C>G, NC_000015.9:g.68499811C>T, NG_008764.2:g.54739G>T, NG_008764.2:g.54739G>C, NG_008764.2:g.54739G>A, NM_017882.3:c.*667G>T, NM_017882.3:c.*667G>C, NM_017882.3:c.*667G>A, NM_017882.2:c.*667G>T, NM_017882.2:c.*667G>C, NM_017882.2:c.*667G>A, NM_001411068.1:c.*667G>T, NM_001411068.1:c.*667G>C, NM_001411068.1:c.*667G>A, XM_047432780.1:c.*667G>T, XM_047432780.1:c.*667G>C, XM_047432780.1:c.*667G>A

Select item 1145514178.

rs114551417 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:68207206 (GRCh38)
15:68499544 (GRCh37)
Canonical SPDI:: NC_000015.10:68207205:C:A
Gene:: CLN6 (Varview), CALML4 (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00136/35 (ALFA)
A=0./0 (TWINSUK)
A=0.000778/3 (ALSPAC)
A=0.003408/478 (GnomAD)
A=0.003699/979 (TOPMED)
A=0.004528/23 (1000Genomes)
HGVS:: NC_000015.10:g.68207206C>A, NC_000015.9:g.68499544C>A, NG_008764.2:g.55006G>T, NM_017882.3:c.*934G>T, NM_017882.2:c.*934G>T, NM_001411068.1:c.*934G>T, XM_047432780.1:c.*934G>T

Select item 1148331259.

rs114833125 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:68207747 (GRCh38)
15:68500085 (GRCh37)
Canonical SPDI:: NC_000015.10:68207746:C:T
Gene:: CLN6 (Varview), CALML4 (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.003261/48 (ALFA)
T=0.00463/1 (Qatari)
T=0.005456/765 (GnomAD)
T=0.005818/1540 (TOPMED)
T=0.006402/32 (1000Genomes)
C=0.5/2 (SGDP_PRJ)
HGVS:: NC_000015.10:g.68207747C>T, NC_000015.9:g.68500085C>T, NG_008764.2:g.54465G>A, NM_017882.3:c.*393G>A, NM_017882.2:c.*393G>A, NM_001411068.1:c.*393G>A, XM_047432780.1:c.*393G>A

Select item 14497644810.

rs144976448 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 15:68207494 (GRCh38)
15:68499832 (GRCh37)
Canonical SPDI:: NC_000015.10:68207493:G:A,NC_000015.10:68207493:G:C,NC_000015.10:68207493:G:T
Gene:: CLN6 (Varview), CALML4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.001667/1 (NorthernSweden)
C=0.002655/13 (1000Genomes)
C=0.004464/20 (Estonian)
C=0.005728/803 (GnomAD)
C=0.006472/24 (TWINSUK)
C=0.008822/34 (ALSPAC)
C=0.01002/10 (GoNL)
HGVS:: NC_000015.10:g.68207494G>A, NC_000015.10:g.68207494G>C, NC_000015.10:g.68207494G>T, NC_000015.9:g.68499832G>A, NC_000015.9:g.68499832G>C, NC_000015.9:g.68499832G>T, NG_008764.2:g.54718C>T, NG_008764.2:g.54718C>G, NG_008764.2:g.54718C>A, NM_017882.3:c.*646C>T, NM_017882.3:c.*646C>G, NM_017882.3:c.*646C>A, NM_017882.2:c.*646C>T, NM_017882.2:c.*646C>G, NM_017882.2:c.*646C>A, NM_001411068.1:c.*646C>T, NM_001411068.1:c.*646C>G, NM_001411068.1:c.*646C>A, XM_047432780.1:c.*646C>T, XM_047432780.1:c.*646C>G, XM_047432780.1:c.*646C>A

Select item 14736251611.

rs147362516 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:68207037 (GRCh38)
15:68499375 (GRCh37)
Canonical SPDI:: NC_000015.10:68207036:C:T
Gene:: CLN6 (Varview), CALML4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000611/9 (ALFA)
T=0./0 (TWINSUK)
T=0.000259/1 (ALSPAC)
T=0.000625/3 (1000Genomes)
T=0.001012/142 (GnomAD)
T=0.001092/289 (TOPMED)
HGVS:: NC_000015.10:g.68207037C>T, NC_000015.9:g.68499375C>T, NG_008764.2:g.55175G>A, NM_017882.3:c.*1103G>A, NM_017882.2:c.*1103G>A, NM_001411068.1:c.*1103G>A, XM_047432780.1:c.*1103G>A

Select item 36922579512.

rs369225795 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:68207415 (GRCh38)
15:68499753 (GRCh37)
Canonical SPDI:: NC_000015.10:68207414:G:A
Gene:: CLN6 (Varview), CALML4 (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000208/3 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000128/34 (TOPMED)
A=0.004841/24 (1000Genomes)
G=0.5/5 (SGDP_PRJ)
HGVS:: NC_000015.10:g.68207415G>A, NC_000015.9:g.68499753G>A, NG_008764.2:g.54797C>T, NM_017882.3:c.*725C>T, NM_017882.2:c.*725C>T, NM_001411068.1:c.*725C>T, XM_047432780.1:c.*725C>T

Select item 53603911413.

rs536039114 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:68207856 (GRCh38)
15:68500194 (GRCh37)
Canonical SPDI:: NC_000015.10:68207855:G:A
Gene:: CLN6 (Varview), CALML4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000208/3 (ALFA)
A=0./0 (TWINSUK)
A=0.000264/37 (GnomAD)
A=0.000312/2 (1000Genomes)
A=0.000321/85 (TOPMED)
A=0.000519/2 (ALSPAC)
A=0.001002/1 (GoNL)
HGVS:: NC_000015.10:g.68207856G>A, NC_000015.9:g.68500194G>A, NG_008764.2:g.54356C>T, NM_017882.3:c.*284C>T, NM_017882.2:c.*284C>T, NM_001411068.1:c.*284C>T, XM_047432780.1:c.*284C>T

Select item 53781949214.

rs537819492 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:68207149 (GRCh38)
15:68499487 (GRCh37)
Canonical SPDI:: NC_000015.10:68207148:G:T
Gene:: CLN6 (Varview), CALML4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000208/3 (ALFA)
T=0.000107/15 (GnomAD)
T=0.000113/30 (TOPMED)
T=0.00027/1 (TWINSUK)
T=0.000778/3 (ALSPAC)
T=0.001002/1 (GoNL)
HGVS:: NC_000015.10:g.68207149G>T, NC_000015.9:g.68499487G>T, NG_008764.2:g.55063C>A, NM_017882.3:c.*991C>A, NM_017882.2:c.*991C>A, NM_001411068.1:c.*991C>A, XM_047432780.1:c.*991C>A

Select item 55639257015.

rs556392570 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:68208009 (GRCh38)
15:68500347 (GRCh37)
Canonical SPDI:: NC_000015.10:68208008:C:A
Gene:: CLN6 (Varview), CALML4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000555/8 (ALFA)
A=0.000409/57 (GnomAD)
A=0.000457/121 (TOPMED)
A=0.002004/2 (GoNL)
HGVS:: NC_000015.10:g.68208009C>A, NC_000015.9:g.68500347C>A, NG_008764.2:g.54203G>T, NM_017882.3:c.*131G>T, NM_017882.2:c.*131G>T, NM_001411068.1:c.*131G>T, XM_047432780.1:c.*131G>T

Select item 56071303016.

rs560713030 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:68207031 (GRCh38)
15:68499369 (GRCh37)
Canonical SPDI:: NC_000015.10:68207030:C:T
Gene:: CLN6 (Varview), CALML4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (ALSPAC)
T=0.000035/1 (TOMMO)
T=0.000091/24 (TOPMED)
T=0.000093/13 (GnomAD)
T=0.000539/2 (TWINSUK)
T=0.002004/2 (GoNL)
HGVS:: NC_000015.10:g.68207031C>T, NC_000015.9:g.68499369C>T, NG_008764.2:g.55181G>A, NM_017882.3:c.*1109G>A, NM_017882.2:c.*1109G>A, NM_001411068.1:c.*1109G>A, XM_047432780.1:c.*1109G>A

Select item 56500619317.

rs565006193 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:68207670 (GRCh38)
15:68500008 (GRCh37)
Canonical SPDI:: NC_000015.10:68207669:G:A
Gene:: CLN6 (Varview), CALML4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000139/2 (ALFA)
G=0./0 (SGDP_PRJ)
A=0./0 (TWINSUK)
A=0.000078/11 (GnomAD)
A=0.000147/39 (TOPMED)
A=0.000259/1 (ALSPAC)
A=0.000781/4 (1000Genomes)
A=0.00463/1 (Qatari)
HGVS:: NC_000015.10:g.68207670G>A, NC_000015.9:g.68500008G>A, NG_008764.2:g.54542C>T, NM_017882.3:c.*470C>T, NM_017882.2:c.*470C>T, NM_001411068.1:c.*470C>T, XM_047432780.1:c.*470C>T

Select item 57132988318.

rs571329883 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:68207485 (GRCh38)
15:68499823 (GRCh37)
Canonical SPDI:: NC_000015.10:68207484:G:A
Gene:: CLN6 (Varview), CALML4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.002427/35 (ALFA)
A=0./0 (ALSPAC)
A=0.00027/1 (TWINSUK)
A=0.000546/1 (Korea1K)
A=0.002811/14 (1000Genomes)
A=0.003159/443 (GnomAD)
A=0.00337/892 (TOPMED)
HGVS:: NC_000015.10:g.68207485G>A, NC_000015.9:g.68499823G>A, NG_008764.2:g.54727C>T, NM_017882.3:c.*655C>T, NM_017882.2:c.*655C>T, NM_001411068.1:c.*655C>T, XM_047432780.1:c.*655C>T

Select item 74641665819.

rs746416658 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:68207659 (GRCh38)
15:68499997 (GRCh37)
Canonical SPDI:: NC_000015.10:68207658:A:C
Gene:: CLN6 (Varview), CALML4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0./0 (ALSPAC)
C=0.00006/16 (TOPMED)
C=0.000078/11 (GnomAD)
C=0.00027/1 (TWINSUK)
HGVS:: NC_000015.10:g.68207659A>C, NC_000015.9:g.68499997A>C, NG_008764.2:g.54553T>G, NM_017882.3:c.*481T>G, NM_017882.2:c.*481T>G, NM_001411068.1:c.*481T>G, XM_047432780.1:c.*481T>G

Select item 74714465520.

rs747144655 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:68207828 (GRCh38)
15:68500166 (GRCh37)
Canonical SPDI:: NC_000015.10:68207827:G:A,NC_000015.10:68207827:G:C
Gene:: CLN6 (Varview), CALML4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000212/4 (ALFA)
C=0./0 (KOREAN)
A=0.000223/1 (Estonian)
A=0.000567/150 (TOPMED)
A=0.000599/84 (GnomAD)
A=0.000809/3 (TWINSUK)
A=0.001557/6 (ALSPAC)
HGVS:: NC_000015.10:g.68207828G>A, NC_000015.10:g.68207828G>C, NC_000015.9:g.68500166G>A, NC_000015.9:g.68500166G>C, NG_008764.2:g.54384C>T, NG_008764.2:g.54384C>G, NM_017882.3:c.*312C>T, NM_017882.3:c.*312C>G, NM_017882.2:c.*312C>T, NM_017882.2:c.*312C>G, NM_001411068.1:c.*312C>T, NM_001411068.1:c.*312C>G, XM_047432780.1:c.*312C>T, XM_047432780.1:c.*312C>G

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