SNP Links for Gene (Select 339366) - SNP

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Select item 14912451371.

rs1491245137 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 19:1514779 (GRCh38)
19:1514778 (GRCh37)
Canonical SPDI:: NC_000019.10:1514778:GG:
Gene:: ADAMTSL5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000037/1 (TOMMO)
-=0.000091/12 (GnomAD)
HGVS:: NC_000019.10:g.1514779_1514780del, NC_000019.9:g.1514778_1514779del

Select item 14911906402.

rs1491190640 has merged into rs772185176 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAA>-,AGAAAGAA,AGAAAGAAAGAA [Show Flanks]
Chromosome:: 19:1514795 (GRCh38)
19:1514794 (GRCh37)
Canonical SPDI:: NC_000019.10:1514779:GAAAGAAAGAAAGAAAGAA:GAAAGAAAGAAAGAA,NC_000019.10:1514779:GAAAGAAAGAAAGAAAGAA:GAAAGAAAGAAAGAAAGAAAGAA,NC_000019.10:1514779:GAAAGAAAGAAAGAAAGAA:GAAAGAAAGAAAGAAAGAAAGAAAGAA
Gene:: ADAMTSL5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAAAGAAAGAAAGAAAGAAAGAA=0./0 (ALFA)
-=0.00037/6 (TOMMO)
-=0.00164/3 (Korea1K)
HGVS:: NC_000019.10:g.1514783AGAA[3], NC_000019.10:g.1514783AGAA[5], NC_000019.10:g.1514783AGAA[6], NC_000019.9:g.1514782AGAA[3], NC_000019.9:g.1514782AGAA[5], NC_000019.9:g.1514782AGAA[6]

Select item 14911837983.

rs1491183798 has merged into rs905411090 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 19:1512708 (GRCh38)
19:1512707 (GRCh37)
Canonical SPDI:: NC_000019.10:1512707:GGGGG:GGGG,NC_000019.10:1512707:GGGGG:GGGGGG
Gene:: ADAMTSL5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.1512712del, NC_000019.10:g.1512712dup, NC_000019.9:g.1512711del, NC_000019.9:g.1512711dup

Select item 14911107174.

rs1491110717 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 19:1505385 (GRCh38)
19:1505384 (GRCh37)
Canonical SPDI:: NC_000019.10:1505383:GAG:G
Gene:: ADAMTSL5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: -=0.0023/9 (ALSPAC)
-=0.0038/14 (TWINSUK)
HGVS:: NC_000019.10:g.1505385_1505386del, NC_000019.9:g.1505384_1505385del, NM_213604.3:c.*630_*631del, NM_213604.2:c.*630_*631del, XM_017026745.2:c.*630_*631del, XM_017026745.1:c.*630_*631del, XM_011527961.2:c.*630_*631del, XM_011527961.1:c.*630_*631del, XM_047438751.1:c.*630_*631del, XM_047438754.1:c.*630_*631del, XM_047438753.1:c.*630_*631del, XM_047438752.1:c.*630_*631del, NM_001367197.1:c.*630_*631del, XM_047438755.1:c.*630_*631del, XM_047438756.1:c.*630_*631del, XM_047438757.1:c.*630_*631del, XM_047438758.1:c.*630_*631del

Select item 14910555645.

rs1491055564 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 19:1509280 (GRCh38)
19:1509279 (GRCh37)
Canonical SPDI:: NC_000019.10:1509278:AGA:A
Gene:: ADAMTSL5 (Varview), LOC124904609 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.000066/1 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.1509280_1509281del, NC_000019.9:g.1509279_1509280del

Select item 14908884886.

rs1490888488 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:1505193 (GRCh38)
19:1505192 (GRCh37)
Canonical SPDI:: NC_000019.10:1505192:C:A
Gene:: ADAMTSL5 (Varview)
Functional Consequence:: 3_prime_UTR_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.1505193C>A, NC_000019.9:g.1505192C>A, NM_213604.3:c.*822G>T, NM_213604.2:c.*822G>T, XM_017026745.2:c.*822G>T, XM_017026745.1:c.*822G>T, XM_011527961.2:c.*822G>T, XM_011527961.1:c.*822G>T, XM_047438751.1:c.*822G>T, XM_047438754.1:c.*822G>T, XM_047438753.1:c.*822G>T, XM_047438752.1:c.*822G>T, NM_001367197.1:c.*822G>T, XM_047438755.1:c.*822G>T, XM_047438756.1:c.*822G>T, XM_047438757.1:c.*822G>T, XM_047438758.1:c.*822G>T

Select item 14906562427.

rs1490656242 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:1511077 (GRCh38)
19:1511076 (GRCh37)
Canonical SPDI:: NC_000019.10:1511076:G:A
Gene:: ADAMTSL5 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.1511077G>A, NC_000019.9:g.1511076G>A, NM_213604.3:c.-134C>T, NM_213604.2:c.-134C>T, XM_017026745.2:c.-134C>T, XM_017026745.1:c.-134C>T, XM_047438751.1:c.-134C>T, XM_047438752.1:c.-255C>T, XM_047438755.1:c.-681C>T, XM_047438756.1:c.-669C>T

Select item 14906402708.

rs1490640270 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:1510611 (GRCh38)
19:1510610 (GRCh37)
Canonical SPDI:: NC_000019.10:1510610:G:A
Gene:: ADAMTSL5 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD_exomes)
A=0.000344/1 (KOREAN)
A=0.000531/9 (TOMMO)
HGVS:: NC_000019.10:g.1510611G>A, NC_000019.9:g.1510610G>A, XM_047438754.1:c.-58C>T, XM_047438753.1:c.-58C>T, XM_047438752.1:c.-58C>T

Select item 14906009709.

rs1490600970 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:1513780 (GRCh38)
19:1513779 (GRCh37)
Canonical SPDI:: NC_000019.10:1513779:C:T
Gene:: ADAMTSL5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.1513780C>T, NC_000019.9:g.1513779C>T

Select item 149042816310.

rs1490428163 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:1508477 (GRCh38)
19:1508476 (GRCh37)
Canonical SPDI:: NC_000019.10:1508476:C:A,NC_000019.10:1508476:C:G
Gene:: ADAMTSL5 (Varview), LOC124904609 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.1508477C>A, NC_000019.10:g.1508477C>G, NC_000019.9:g.1508476C>A, NC_000019.9:g.1508476C>G, NM_213604.3:c.455G>T, NM_213604.3:c.455G>C, NM_213604.2:c.455G>T, NM_213604.2:c.455G>C, XM_017026745.2:c.455G>T, XM_017026745.2:c.455G>C, XM_017026745.1:c.455G>T, XM_017026745.1:c.455G>C, XM_011527961.2:c.485G>T, XM_011527961.2:c.485G>C, XM_011527961.1:c.485G>T, XM_011527961.1:c.485G>C, XM_047438751.1:c.455G>T, XM_047438751.1:c.455G>C, XM_047438754.1:c.389G>T, XM_047438754.1:c.389G>C, XM_047438753.1:c.389G>T, XM_047438753.1:c.389G>C, XM_047438752.1:c.389G>T, XM_047438752.1:c.389G>C, NM_001367197.1:c.485G>T, NM_001367197.1:c.485G>C, XM_047438755.1:c.-251G>T, XM_047438755.1:c.-251G>C, XM_047438756.1:c.-239G>T, XM_047438756.1:c.-239G>C, XM_047438757.1:c.-251G>T, XM_047438757.1:c.-251G>C, XM_047438758.1:c.-239G>T, XM_047438758.1:c.-239G>C, NP_998769.2:p.Gly152Val, NP_998769.2:p.Gly152Ala, XP_016882234.1:p.Gly152Val, XP_016882234.1:p.Gly152Ala, XP_011526263.1:p.Gly162Val, XP_011526263.1:p.Gly162Ala, XP_047294707.1:p.Gly152Val, XP_047294707.1:p.Gly152Ala, XP_047294710.1:p.Gly130Val, XP_047294710.1:p.Gly130Ala, XP_047294709.1:p.Gly130Val, XP_047294709.1:p.Gly130Ala, XP_047294708.1:p.Gly130Val, XP_047294708.1:p.Gly130Ala, NP_001354126.1:p.Gly162Val, NP_001354126.1:p.Gly162Ala

Select item 149042033111.

rs1490420331 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:1506391 (GRCh38)
19:1506390 (GRCh37)
Canonical SPDI:: NC_000019.10:1506390:G:C
Gene:: ADAMTSL5 (Varview), LOC124904609 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.1506391G>C, NC_000019.9:g.1506390G>C

Select item 149039370412.

rs1490393704 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 19:1505581 (GRCh38)
19:1505580 (GRCh37)
Canonical SPDI:: NC_000019.10:1505580:G:
Gene:: ADAMTSL5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.1505581del, NC_000019.9:g.1505580del, NM_213604.3:c.*434del, NM_213604.2:c.*434del, XM_017026745.2:c.*434del, XM_017026745.1:c.*434del, XM_011527961.2:c.*434del, XM_011527961.1:c.*434del, XM_047438751.1:c.*434del, XM_047438754.1:c.*434del, XM_047438753.1:c.*434del, XM_047438752.1:c.*434del, NM_001367197.1:c.*434del, XM_047438755.1:c.*434del, XM_047438756.1:c.*434del, XM_047438757.1:c.*434del, XM_047438758.1:c.*434del

Select item 149016529913.

rs1490165299 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:1511475 (GRCh38)
19:1511474 (GRCh37)
Canonical SPDI:: NC_000019.10:1511474:C:T
Gene:: ADAMTSL5 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_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.1511475C>T, NC_000019.9:g.1511474C>T

Select item 148965422514.

rs1489654225 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:1514940 (GRCh38)
19:1514939 (GRCh37)
Canonical SPDI:: NC_000019.10:1514939:A:T
Gene:: ADAMTSL5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.1514940A>T, NC_000019.9:g.1514939A>T

Select item 148954776815.

rs1489547768 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 19:1508012 (GRCh38)
19:1508011 (GRCh37)
Canonical SPDI:: NC_000019.10:1508009:ACAC:AC
Gene:: ADAMTSL5 (Varview), LOC124904609 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.1508010AC[1], NC_000019.9:g.1508009AC[1], NM_213604.3:c.588_589del, NM_213604.2:c.588_589del, XM_017026745.2:c.588_589del, XM_017026745.1:c.588_589del, XM_011527961.2:c.618_619del, XM_011527961.1:c.618_619del, XM_047438751.1:c.588_589del, XM_047438754.1:c.522_523del, XM_047438753.1:c.522_523del, XM_047438752.1:c.522_523del, NM_001367197.1:c.618_619del, XM_047438755.1:c.-120GT[1], XM_047438756.1:c.-108GT[1], XM_047438757.1:c.-120GT[1], XM_047438758.1:c.-108GT[1], XR_007067084.1:n.19AC[1], NP_998769.2:p.Phe197fs, XP_016882234.1:p.Phe197fs, XP_011526263.1:p.Phe207fs, XP_047294707.1:p.Phe197fs, XP_047294710.1:p.Phe175fs, XP_047294709.1:p.Phe175fs, XP_047294708.1:p.Phe175fs, NP_001354126.1:p.Phe207fs

Select item 148952099416.

rs1489520994 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 19:1507224 (GRCh38)
19:1507223 (GRCh37)
Canonical SPDI:: NC_000019.10:1507223:T:A,NC_000019.10:1507223:T:C
Gene:: ADAMTSL5 (Varview), LOC124904609 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.1507224T>A, NC_000019.10:g.1507224T>C, NC_000019.9:g.1507223T>A, NC_000019.9:g.1507223T>C

Select item 148933395217.

rs1489333952 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:1509297 (GRCh38)
19:1509297 (GRCh37)
Canonical SPDI:: NC_000019.10:1509297:CCC:CCCC
Gene:: ADAMTSL5 (Varview), LOC124904609 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: CCCC=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.1509300dup, NC_000019.9:g.1509299dup

Select item 148922039218.

rs1489220392 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:1510075 (GRCh38)
19:1510074 (GRCh37)
Canonical SPDI:: NC_000019.10:1510074:C:T
Gene:: ADAMTSL5 (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_000019.10:g.1510075C>T, NC_000019.9:g.1510074C>T

Select item 148906569419.

rs1489065694 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:1506799 (GRCh38)
19:1506798 (GRCh37)
Canonical SPDI:: NC_000019.10:1506798:C:A
Gene:: ADAMTSL5 (Varview), LOC124904609 (Varview)
Functional Consequence:: 2KB_upstream_variant,stop_gained,upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.1506799C>A, NC_000019.9:g.1506798C>A, NM_213604.3:c.982G>T, NM_213604.2:c.982G>T, XM_017026745.2:c.982G>T, XM_017026745.1:c.982G>T, XM_011527961.2:c.1024G>T, XM_011527961.1:c.1024G>T, XM_047438751.1:c.994G>T, XM_047438754.1:c.916G>T, XM_047438753.1:c.916G>T, XM_047438752.1:c.916G>T, NM_001367197.1:c.1012G>T, XM_047438755.1:c.289G>T, XM_047438756.1:c.289G>T, XM_047438757.1:c.289G>T, XM_047438758.1:c.289G>T, NP_998769.2:p.Glu328Ter, XP_016882234.1:p.Glu328Ter, XP_011526263.1:p.Glu342Ter, XP_047294707.1:p.Glu332Ter, XP_047294710.1:p.Glu306Ter, XP_047294709.1:p.Glu306Ter, XP_047294708.1:p.Glu306Ter, NP_001354126.1:p.Glu338Ter, XP_047294711.1:p.Glu97Ter, XP_047294712.1:p.Glu97Ter, XP_047294713.1:p.Glu97Ter, XP_047294714.1:p.Glu97Ter

Select item 148854197920.

rs1488541979 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:1509773 (GRCh38)
19:1509772 (GRCh37)
Canonical SPDI:: NC_000019.10:1509772:T:A
Gene:: ADAMTSL5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.1509773T>A, NC_000019.9:g.1509772T>A

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