SNP Links for Gene (Select 284240) - SNP

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Items: 1 to 20 of 7149

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Select item 14915438741.

rs1491543874 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,CGG,T [Show Flanks]
Chromosome:: 18:79584097 (GRCh38)
18:77344098 (GRCh37)
Canonical SPDI:: NC_000018.10:79584097::A,NC_000018.10:79584097::CGG,NC_000018.10:79584097::T
Gene:: LOC284240 (Varview), LOC124904335 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00007/1 (TOMMO)
HGVS:: NC_000018.10:g.79584097_79584098insA, NC_000018.10:g.79584097_79584098insCGG, NC_000018.10:g.79584097_79584098insT, NC_000018.9:g.77344097_77344098insA, NC_000018.9:g.77344097_77344098insCGG, NC_000018.9:g.77344097_77344098insT, NT_187617.1:g.20976_20977insA, NT_187617.1:g.20976_20977insCGG, NT_187617.1:g.20976_20977insT

Select item 14915243812.

rs1491524381 [Homo sapiens]

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

Select item 14915118213.

rs1491511821 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 18:79584097 (GRCh38)
18:77344097 (GRCh37)
Canonical SPDI:: NC_000018.10:79584096:CG:
Gene:: LOC284240 (Varview), LOC124904335 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.000109/12 (GnomAD)
-=0.001256/21 (TOMMO)
HGVS:: NC_000018.10:g.79584097_79584098del, NC_000018.9:g.77344097_77344098del, NT_187617.1:g.20976_20977del

Select item 14914487054.

rs1491448705 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 18:79585988 (GRCh38)
18:77345988 (GRCh37)
Canonical SPDI:: NC_000018.10:79585987:CA:
Gene:: LOC284240 (Varview), LOC124904335 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000032/4 (GnomAD)
HGVS:: NC_000018.10:g.79585988_79585989del, NC_000018.9:g.77345988_77345989del, NT_187617.1:g.22867_22868del

Select item 14913978225.

rs1491397822 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 18:79580470 (GRCh38)
18:77340470 (GRCh37)
Canonical SPDI:: NC_000018.10:79580467:AGAG:AG
Gene:: LOC284240 (Varview), LOC124904335 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGAG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.79580468AG[1], NC_000018.9:g.77340468AG[1], NT_187617.1:g.17347AG[1], XR_007066427.1:n.3630CT[1], XR_007066428.1:n.3573CT[1], XR_007068690.1:n.3630CT[1], XR_007068691.1:n.3573CT[1]

Select item 14912681526.

rs1491268152 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>- [Show Flanks]
Chromosome:: 18:79585690 (GRCh38)
18:77345690 (GRCh37)
Canonical SPDI:: NC_000018.10:79585688:CCC:C
Gene:: LOC284240 (Varview), LOC124904335 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0011/13 (ALFA)
-=0.00016/5 (GnomAD)
HGVS:: NC_000018.10:g.79585690_79585691del, NC_000018.9:g.77345690_77345691del, NT_187617.1:g.22569_22570del

Select item 14911515777.

rs1491151577 [Homo sapiens]

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

Select item 14911337528.

rs1491133752 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGG [Show Flanks]
Chromosome:: 18:79580468 (GRCh38)
18:77340469 (GRCh37)
Canonical SPDI:: NC_000018.10:79580468:GAGG:GAGGAGG
Gene:: LOC284240 (Varview), LOC124904335 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: GAGGAGG=0./0 (ALFA)
GAG=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.79580470_79580472dup, NC_000018.9:g.77340470_77340472dup, NT_187617.1:g.17349_17351dup, XR_007066427.1:n.3630_3632dup, XR_007066428.1:n.3573_3575dup, XR_007068690.1:n.3630_3632dup, XR_007068691.1:n.3573_3575dup

Select item 14909944689.

rs1490994468 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGATTC>- [Show Flanks]
Chromosome:: 18:79591596 (GRCh38)
18:77351596 (GRCh37)
Canonical SPDI:: NC_000018.10:79591592:TTCCGATTC:TTC
Validated:: by frequency,by alfa
MAF:: TTC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.79591596_79591601del, NC_000018.9:g.77351596_77351601del, NT_187617.1:g.28475_28480del

Select item 149072462810.

rs1490724628 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 18:79587010 (GRCh38)
18:77347010 (GRCh37)
Canonical SPDI:: NC_000018.10:79587009:GGGGGG:GGGGG,NC_000018.10:79587009:GGGGGG:GGGGGGG
Gene:: LOC284240 (Varview), LOC124904335 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.79587015del, NC_000018.10:g.79587015dup, NC_000018.9:g.77347015del, NC_000018.9:g.77347015dup, NT_187617.1:g.23894del, NT_187617.1:g.23894dup, NR_148949.1:n.953del, NR_148949.1:n.953dup

Select item 149028337611.

rs1490283376 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>- [Show Flanks]
Chromosome:: 18:79582579 (GRCh38)
18:77342579 (GRCh37)
Canonical SPDI:: NC_000018.10:79582577:CGC:C
Gene:: LOC284240 (Varview), LOC124904335 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.00003/8 (TOPMED)
-=0.000049/6 (GnomAD)
HGVS:: NC_000018.10:g.79582579_79582580del, NC_000018.9:g.77342579_77342580del, NT_187617.1:g.19458_19459del, XR_007066427.1:n.1522_1523del, XR_007066428.1:n.1465_1466del, XR_007068690.1:n.1522_1523del, XR_007068691.1:n.1465_1466del

Select item 149027878912.

rs1490278789 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 18:79572639 (GRCh38)
18:77332639 (GRCh37)
Canonical SPDI:: NC_000018.10:79572638:GGGGGG:GGGGG,NC_000018.10:79572638:GGGGGG:GGGGGGG
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000021/3 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000018.10:g.79572644del, NC_000018.10:g.79572644dup, NC_000018.9:g.77332644del, NC_000018.9:g.77332644dup, NT_187617.1:g.9523del, NT_187617.1:g.9523dup

Select item 149018392213.

rs1490183922 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 18:79586356 (GRCh38)
18:77346356 (GRCh37)
Canonical SPDI:: NC_000018.10:79586355:A:T
Gene:: LOC284240 (Varview), LOC124904335 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.79586356A>T, NC_000018.9:g.77346356A>T, NT_187617.1:g.23235A>T

Select item 149015556214.

rs1490155562 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 18:79579756 (GRCh38)
18:77339756 (GRCh37)
Canonical SPDI:: NC_000018.10:79579755:A:C,NC_000018.10:79579755:A:G
Gene:: LOC284240 (Varview), LOC124904335 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000018.10:g.79579756A>C, NC_000018.10:g.79579756A>G, NC_000018.9:g.77339756A>C, NC_000018.9:g.77339756A>G, NT_187617.1:g.16635A>C, NT_187617.1:g.16635A>G

Select item 149011747215.

rs1490117472 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCAAAAGAGGAGCCCCTT>- [Show Flanks]
Chromosome:: 18:79586307 (GRCh38)
18:77346307 (GRCh37)
Canonical SPDI:: NC_000018.10:79586303:CTTTCAAAAGAGGAGCCCCTT:CTT
Gene:: LOC284240 (Varview), LOC124904335 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CTT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.79586307_79586324del, NC_000018.9:g.77346307_77346324del, NT_187617.1:g.23186_23203del

Select item 148997330516.

rs1489973305 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 18:79591576 (GRCh38)
18:77351576 (GRCh37)
Canonical SPDI:: NC_000018.10:79591575:G:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.79591576G>T, NC_000018.9:g.77351576G>T, NT_187617.1:g.28455G>T

Select item 148988136717.

rs1489881367 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 18:79572993 (GRCh38)
18:77332993 (GRCh37)
Canonical SPDI:: NC_000018.10:79572992:C:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.79572993C>G, NC_000018.9:g.77332993C>G, NT_187617.1:g.9872C>G

Select item 148985016118.

rs1489850161 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATGA>- [Show Flanks]
Chromosome:: 18:79591239 (GRCh38)
18:77351239 (GRCh37)
Canonical SPDI:: NC_000018.10:79591231:TGAATGAATGA:TGAATGA
Validated:: by frequency,by alfa,by cluster
MAF:: TGAATGA=0.000071/1 (ALFA)
-=0.000023/6 (TOPMED)
-=0.000036/5 (GnomAD)
-=0.000106/2 (TOMMO)
HGVS:: NC_000018.10:g.79591235ATGA[1], NC_000018.9:g.77351235ATGA[1], NT_187617.1:g.28114ATGA[1]

Select item 148983743419.

rs1489837434 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 18:79583922 (GRCh38)
18:77343922 (GRCh37)
Canonical SPDI:: NC_000018.10:79583921:G:A,NC_000018.10:79583921:G:T
Gene:: LOC284240 (Varview), LOC124904335 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000018.10:g.79583922G>A, NC_000018.10:g.79583922G>T, NC_000018.9:g.77343922G>A, NC_000018.9:g.77343922G>T, NT_187617.1:g.20801G>A, NT_187617.1:g.20801G>T

Select item 148967531620.

rs1489675316 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:79576769 (GRCh38)
18:77336769 (GRCh37)
Canonical SPDI:: NC_000018.10:79576768:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000071/1 (TOMMO)
T=0.000342/1 (KOREAN)
HGVS:: NC_000018.10:g.79576769C>T, NC_000018.9:g.77336769C>T, NT_187617.1:g.13648C>T

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