SNP Links for Gene (Select 574406) - SNP

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Select item 14912507921.

rs1491250792 has merged into rs58754738 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:150569288 (GRCh38)
1:150541764 (GRCh37)
Canonical SPDI:: NC_000001.11:150569273:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:150569273:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:150569273:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:150569273:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:150569273:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:150569273:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:150569273:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:150569273:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:150569273:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:150569273:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ADAMTSL4-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.0697/28 (NorthernSweden)
HGVS:: NC_000001.11:g.150569288_150569293del, NC_000001.11:g.150569289_150569293del, NC_000001.11:g.150569290_150569293del, NC_000001.11:g.150569291_150569293del, NC_000001.11:g.150569292_150569293del, NC_000001.11:g.150569293del, NC_000001.11:g.150569293dup, NC_000001.11:g.150569292_150569293dup, NC_000001.11:g.150569291_150569293dup, NC_000001.11:g.150569288_150569293dup, NC_000001.10:g.150541764_150541769del, NC_000001.10:g.150541765_150541769del, NC_000001.10:g.150541766_150541769del, NC_000001.10:g.150541767_150541769del, NC_000001.10:g.150541768_150541769del, NC_000001.10:g.150541769del, NC_000001.10:g.150541769dup, NC_000001.10:g.150541768_150541769dup, NC_000001.10:g.150541767_150541769dup, NC_000001.10:g.150541764_150541769dup, NG_045835.1:g.91_96del, NG_045835.1:g.92_96del, NG_045835.1:g.93_96del, NG_045835.1:g.94_96del, NG_045835.1:g.95_96del, NG_045835.1:g.96del, NG_045835.1:g.96dup, NG_045835.1:g.95_96dup, NG_045835.1:g.94_96dup, NG_045835.1:g.91_96dup

Select item 14908654832.

rs1490865483 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:150561697 (GRCh38)
1:150534173 (GRCh37)
Canonical SPDI:: NC_000001.11:150561696:C:T
Gene:: ADAMTSL4-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.150561697C>T, NC_000001.10:g.150534173C>T, NG_012172.1:g.17276C>T, NM_001025493.1:c.-227G>A

Select item 14906663373.

rs1490666337 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:150574769 (GRCh38)
1:150547246 (GRCh37)
Canonical SPDI:: NC_000001.11:150574769:T:TT
Gene:: MCL1 (Varview), ADAMTSL4-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150574770dup, NC_000001.10:g.150547246dup, NG_029146.1:g.9973dup, NM_021960.5:c.*2605dup, NM_021960.4:c.*2609dup, NM_182763.3:c.*2594dup, NM_182763.2:c.*2598dup, NM_001197320.2:c.*2605dup, NM_001197320.1:c.*2609dup

Select item 14904075994.

rs1490407599 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:150562805 (GRCh38)
1:150535281 (GRCh37)
Canonical SPDI:: NC_000001.11:150562804:T:C
Gene:: ADAMTSL4-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000389/7 (TOMMO)
HGVS:: NC_000001.11:g.150562805T>C, NC_000001.10:g.150535281T>C, NG_012172.1:g.18384T>C

Select item 14903070485.

rs1490307048 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:150575752 (GRCh38)
1:150548228 (GRCh37)
Canonical SPDI:: NC_000001.11:150575749:CACA:CA
Gene:: MCL1 (Varview), ADAMTSL4-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACA=0./0 (ALFA)
-=0.00016/1 (1000Genomes)
HGVS:: NC_000001.11:g.150575750CA[1], NC_000001.10:g.150548226CA[1], NG_029146.1:g.8990TG[1], NM_021960.5:c.*1622TG[1], NM_021960.4:c.*1626TG[1], NM_182763.3:c.*1611TG[1], NM_182763.2:c.*1615TG[1], NM_001197320.2:c.*1622TG[1], NM_001197320.1:c.*1626TG[1]

Select item 14902999246.

rs1490299924 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:150560560 (GRCh38)
1:150533036 (GRCh37)
Canonical SPDI:: NC_000001.11:150560559:G:A
Gene:: ADAMTSL4 (Varview), ADAMTSL4-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150560560G>A, NC_000001.10:g.150533036G>A, NG_012172.1:g.16139G>A, NM_019032.6:c.*364G>A, NM_019032.5:c.*364G>A, NM_019032.4:c.*364G>A, NM_001288608.2:c.*364G>A, NM_001288608.1:c.*364G>A, NM_001288607.2:c.*364G>A, NM_001288607.1:c.*364G>A, NM_001378596.1:c.*364G>A, XM_011509644.4:c.*364G>A, XM_011509644.3:c.*364G>A, XM_011509644.2:c.*364G>A, XM_011509644.1:c.*364G>A, XM_011509648.4:c.*364G>A, XM_011509648.3:c.*364G>A, XM_011509648.2:c.*364G>A, XM_011509648.1:c.*364G>A, XM_017001506.3:c.*364G>A, XM_017001506.2:c.*364G>A, XM_017001506.1:c.*364G>A, XM_011509651.3:c.*364G>A, XM_011509651.2:c.*364G>A, XM_011509651.1:c.*364G>A, XM_011509652.3:c.*364G>A, XM_011509652.2:c.*364G>A, XM_011509652.1:c.*364G>A, XM_047422820.1:c.*364G>A, XM_047422830.1:c.*364G>A, XM_047422824.1:c.*364G>A, XM_047422823.1:c.*364G>A, XM_047422819.1:c.*364G>A, XM_047422832.1:c.*364G>A, NM_001025493.1:c.*521C>T

Select item 14900542877.

rs1490054287 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:150569429 (GRCh38)
1:150541905 (GRCh37)
Canonical SPDI:: NC_000001.11:150569428:C:A
Gene:: ADAMTSL4-AS1 (Varview)
Functional Consequence:: intron_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_000001.11:g.150569429C>A, NC_000001.10:g.150541905C>A

Select item 14899149138.

rs1489914913 has merged into rs946295652 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 1:150569782 (GRCh38)
1:150542258 (GRCh37)
Canonical SPDI:: NC_000001.11:150569781:TTTTTTTTT:TTTTTTTT,NC_000001.11:150569781:TTTTTTTTT:TTTTTTTTTT
Gene:: ADAMTSL4-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000177/3 (TOMMO)
HGVS:: NC_000001.11:g.150569790del, NC_000001.11:g.150569790dup, NC_000001.10:g.150542266del, NC_000001.10:g.150542266dup

Select item 14898637129.

rs1489863712 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTA>- [Show Flanks]
Chromosome:: 1:150568919 (GRCh38)
1:150541395 (GRCh37)
Canonical SPDI:: NC_000001.11:150568915:TTATTTA:TTA
Gene:: ADAMTSL4-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTA=0./0 (ALFA)
HGVS:: NC_000001.11:g.150568919_150568922del, NC_000001.10:g.150541395_150541398del, NG_045835.1:g.451_454del

Select item 148982262910.

rs1489822629 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:150574377 (GRCh38)
1:150546853 (GRCh37)
Canonical SPDI:: NC_000001.11:150574376:A:C
Gene:: MCL1 (Varview), ADAMTSL4-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.150574377A>C, NC_000001.10:g.150546853A>C, NG_029146.1:g.10366T>G, NR_104133.1:n.176T>G

Select item 148978885011.

rs1489788850 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:150576511 (GRCh38)
1:150548987 (GRCh37)
Canonical SPDI:: NC_000001.11:150576510:C:T
Gene:: MCL1 (Varview), ADAMTSL4-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000035/1 (TOMMO)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.150576511C>T, NC_000001.10:g.150548987C>T, NG_029146.1:g.8228G>A, NM_021960.5:c.*864G>A, NM_021960.4:c.*864G>A, NM_182763.3:c.*853G>A, NM_182763.2:c.*853G>A, NM_001197320.2:c.*864G>A, NM_001197320.1:c.*864G>A

Select item 148972156912.

rs1489721569 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:150561475 (GRCh38)
1:150533951 (GRCh37)
Canonical SPDI:: NC_000001.11:150561474:CA:
Gene:: ADAMTSL4-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150561475_150561476del, NC_000001.10:g.150533951_150533952del, NG_012172.1:g.17054_17055del, NM_001025493.1:c.-6_-5del

Select item 148957372013.

rs1489573720 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:150575572 (GRCh38)
1:150548048 (GRCh37)
Canonical SPDI:: NC_000001.11:150575571:C:T
Gene:: MCL1 (Varview), ADAMTSL4-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150575572C>T, NC_000001.10:g.150548048C>T, NG_029146.1:g.9171G>A, NM_021960.5:c.*1803G>A, NM_021960.4:c.*1807G>A, NM_182763.3:c.*1792G>A, NM_182763.2:c.*1796G>A, NM_001197320.2:c.*1803G>A, NM_001197320.1:c.*1807G>A

Select item 148952276514.

rs1489522765 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:150574722 (GRCh38)
1:150547198 (GRCh37)
Canonical SPDI:: NC_000001.11:150574721:A:G
Gene:: MCL1 (Varview), ADAMTSL4-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150574722A>G, NC_000001.10:g.150547198A>G, NG_029146.1:g.10021T>C, NM_021960.5:c.*2653T>C, NM_021960.4:c.*2657T>C, NM_182763.3:c.*2642T>C, NM_182763.2:c.*2646T>C, NM_001197320.2:c.*2653T>C, NM_001197320.1:c.*2657T>C

Select item 148939533215.

rs1489395332 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:150561938 (GRCh38)
1:150534414 (GRCh37)
Canonical SPDI:: NC_000001.11:150561937:T:G
Gene:: ADAMTSL4-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.150561938T>G, NC_000001.10:g.150534414T>G, NG_012172.1:g.17517T>G, NM_001025493.1:c.-468A>C

Select item 148911896916.

rs1489118969 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:150560926 (GRCh38)
1:150533402 (GRCh37)
Canonical SPDI:: NC_000001.11:150560925:A:G
Gene:: ADAMTSL4 (Varview), ADAMTSL4-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.150560926A>G, NC_000001.10:g.150533402A>G, NG_012172.1:g.16505A>G, NM_019032.6:c.*730A>G, NM_019032.5:c.*730A>G, NM_019032.4:c.*730A>G, NM_001288608.2:c.*730A>G, NM_001288608.1:c.*730A>G, NM_001288607.2:c.*730A>G, NM_001288607.1:c.*730A>G, NM_001378596.1:c.*730A>G, XM_011509644.4:c.*730A>G, XM_011509644.3:c.*730A>G, XM_011509644.2:c.*730A>G, XM_011509644.1:c.*730A>G, XM_011509648.4:c.*730A>G, XM_011509648.3:c.*730A>G, XM_011509648.2:c.*730A>G, XM_011509648.1:c.*730A>G, XM_017001506.3:c.*730A>G, XM_017001506.2:c.*730A>G, XM_017001506.1:c.*730A>G, XM_011509651.3:c.*730A>G, XM_011509651.2:c.*730A>G, XM_011509651.1:c.*730A>G, XM_011509652.3:c.*730A>G, XM_011509652.2:c.*730A>G, XM_011509652.1:c.*730A>G, XM_047422820.1:c.*730A>G, XM_047422830.1:c.*730A>G, XM_047422824.1:c.*730A>G, XM_047422823.1:c.*730A>G, XM_047422819.1:c.*730A>G, XM_047422832.1:c.*730A>G, NM_001025493.1:c.*155T>C, NR_104133.1:n.1005T>C

Select item 148905923117.

rs1489059231 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:150565468 (GRCh38)
1:150537944 (GRCh37)
Canonical SPDI:: NC_000001.11:150565467:G:A
Gene:: ADAMTSL4-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.150565468G>A, NC_000001.10:g.150537944G>A

Select item 148883623418.

rs1488836234 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAGGTCTGTG>- [Show Flanks]
Chromosome:: 1:150575692 (GRCh38)
1:150548168 (GRCh37)
Canonical SPDI:: NC_000001.11:150575689:TGAAAGGTCTGTG:TG
Gene:: MCL1 (Varview), ADAMTSL4-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.150575692_150575702del, NC_000001.10:g.150548168_150548178del, NG_029146.1:g.9043_9053del, NM_021960.5:c.*1675_*1685del, NM_021960.4:c.*1679_*1689del, NM_182763.3:c.*1664_*1674del, NM_182763.2:c.*1668_*1678del, NM_001197320.2:c.*1675_*1685del, NM_001197320.1:c.*1679_*1689del

Select item 148882960919.

rs1488829609 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 1:150563179 (GRCh38)
1:150535655 (GRCh37)
Canonical SPDI:: NC_000001.11:150563178:A:
Gene:: ADAMTSL4-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.150563179del, NC_000001.10:g.150535655del, NR_104133.1:n.631del

Select item 148869971720.

rs1488699717 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:150570716 (GRCh38)
1:150543192 (GRCh37)
Canonical SPDI:: NC_000001.11:150570715:T:A
Gene:: ADAMTSL4-AS1 (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_000001.11:g.150570716T>A, NC_000001.10:g.150543192T>A

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