SNP Links for Gene (Select 376940) - SNP

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Select item 14914675591.

rs1491467559 has merged into rs1259718904 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG,GGG [Show Flanks]
Chromosome:: 2:112273988 (GRCh38)
2:113031565 (GRCh37)
Canonical SPDI:: NC_000002.12:112273987:GGGG:GGG,NC_000002.12:112273987:GGGG:GGGGG,NC_000002.12:112273987:GGGG:GGGGGG
Gene:: ZC3H6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
HGVS:: NC_000002.12:g.112273991del, NC_000002.12:g.112273991dup, NC_000002.12:g.112273990_112273991dup, NC_000002.11:g.113031568del, NC_000002.11:g.113031568dup, NC_000002.11:g.113031567_113031568dup

Select item 14914600632.

rs1491460063 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:112290120 (GRCh38)
2:113047698 (GRCh37)
Canonical SPDI:: NC_000002.12:112290120::G
Gene:: ZC3H6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.112290120_112290121insG, NC_000002.11:g.113047697_113047698insG

Select item 14914454793.

rs1491445479 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 2:112273987 (GRCh38)
2:113031564 (GRCh37)
Canonical SPDI:: NC_000002.12:112273986:AG:
Gene:: ZC3H6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0.000084/1 (ALFA)
-=0.000058/8 (GnomAD)
HGVS:: NC_000002.12:g.112273987_112273988del, NC_000002.11:g.113031564_113031565del

Select item 14914389804.

rs1491438980 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:112304118 (GRCh38)
2:113061696 (GRCh37)
Canonical SPDI:: NC_000002.12:112304118:T:TT
Gene:: ZC3H6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.112304119dup, NC_000002.11:g.113061696dup

Select item 14914294545.

rs1491429454 has merged into rs564035069 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:112317209 (GRCh38)
2:113074786 (GRCh37)
Canonical SPDI:: NC_000002.12:112317198:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:112317198:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:112317198:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:112317198:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:112317198:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:112317198:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:112317198:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:112317198:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:112317198:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:112317198:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:112317198:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112317198:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112317198:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112317198:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112317198:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112317198:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112317198:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112317198:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZC3H6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.3595/1333 (TWINSUK)
T=0.375/15 (GENOME_DK)
T=0.383/1476 (ALSPAC)
-=0.4595/2301 (1000Genomes)
HGVS:: NC_000002.12:g.112317209_112317212del, NC_000002.12:g.112317210_112317212del, NC_000002.12:g.112317211_112317212del, NC_000002.12:g.112317212del, NC_000002.12:g.112317212dup, NC_000002.12:g.112317211_112317212dup, NC_000002.12:g.112317210_112317212dup, NC_000002.12:g.112317209_112317212dup, NC_000002.12:g.112317208_112317212dup, NC_000002.12:g.112317207_112317212dup, NC_000002.12:g.112317206_112317212dup, NC_000002.12:g.112317205_112317212dup, NC_000002.12:g.112317204_112317212dup, NC_000002.12:g.112317203_112317212dup, NC_000002.12:g.112317202_112317212dup, NC_000002.12:g.112317212_112317213insTTTTTTTTTTTTTTTT, NC_000002.12:g.112317212_112317213insTTTTTTTTTTTTTTTTT, NC_000002.12:g.112317212_112317213insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.113074786_113074789del, NC_000002.11:g.113074787_113074789del, NC_000002.11:g.113074788_113074789del, NC_000002.11:g.113074789del, NC_000002.11:g.113074789dup, NC_000002.11:g.113074788_113074789dup, NC_000002.11:g.113074787_113074789dup, NC_000002.11:g.113074786_113074789dup, NC_000002.11:g.113074785_113074789dup, NC_000002.11:g.113074784_113074789dup, NC_000002.11:g.113074783_113074789dup, NC_000002.11:g.113074782_113074789dup, NC_000002.11:g.113074781_113074789dup, NC_000002.11:g.113074780_113074789dup, NC_000002.11:g.113074779_113074789dup, NC_000002.11:g.113074789_113074790insTTTTTTTTTTTTTTTT, NC_000002.11:g.113074789_113074790insTTTTTTTTTTTTTTTTT, NC_000002.11:g.113074789_113074790insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14912850436.

rs1491285043 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 2:112304122 (GRCh38)
2:113061699 (GRCh37)
Canonical SPDI:: NC_000002.12:112304117:GTGTGT:GTGT
Gene:: ZC3H6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGT=0./0 (ALFA)
-=0.000021/3 (GnomAD)
-=0.000026/7 (TOPMED)
-=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.112304118GT[2], NC_000002.11:g.113061695GT[2]

Select item 14911235467.

rs1491123546 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:112273644 (GRCh38)
2:113031222 (GRCh37)
Canonical SPDI:: NC_000002.12:112273644:GGGG:GGGGG
Gene:: ZC3H6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0.000142/2 (ALFA)
G=0.000193/27 (GnomAD)
G=0.000234/62 (TOPMED)
HGVS:: NC_000002.12:g.112273648dup, NC_000002.11:g.113031225dup

Select item 14911143968.

rs1491114396 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 2:112338841 (GRCh38)
2:113096418 (GRCh37)
Canonical SPDI:: NC_000002.12:112338839:TGT:T
Gene:: ZC3H6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00033/5 (ALFA)
-=0.000029/3 (GnomAD)
-=0.000597/10 (TOMMO)
HGVS:: NC_000002.12:g.112338841_112338842del, NC_000002.11:g.113096418_113096419del, XM_006712519.4:c.*4854_*4855del, XM_006712519.2:c.*4854_*4855del, NM_198581.3:c.*6353_*6354del, NM_198581.2:c.*6353_*6354del

Select item 14910803019.

rs1491080301 has merged into rs5833443 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 2:112312877 (GRCh38)
2:113070454 (GRCh37)
Canonical SPDI:: NC_000002.12:112312864:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:112312864:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:112312864:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:112312864:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:112312864:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:112312864:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: ZC3H6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
A=0.2827/160 (NorthernSweden)
-=0.375/3 (KOREAN)
-=0.4802/2405 (1000Genomes)
HGVS:: NC_000002.12:g.112312877_112312879del, NC_000002.12:g.112312878_112312879del, NC_000002.12:g.112312879del, NC_000002.12:g.112312879dup, NC_000002.12:g.112312878_112312879dup, NC_000002.12:g.112312877_112312879dup, NC_000002.11:g.113070454_113070456del, NC_000002.11:g.113070455_113070456del, NC_000002.11:g.113070456del, NC_000002.11:g.113070456dup, NC_000002.11:g.113070455_113070456dup, NC_000002.11:g.113070454_113070456dup

Select item 149106898010.

rs1491068980 has merged into rs55807138 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:112273930 (GRCh38)
2:113031507 (GRCh37)
Canonical SPDI:: NC_000002.12:112273918:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:112273918:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:112273918:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:112273918:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:112273918:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:112273918:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:112273918:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:112273918:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZC3H6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.1623/813 (1000Genomes)
HGVS:: NC_000002.12:g.112273930_112273933del, NC_000002.12:g.112273931_112273933del, NC_000002.12:g.112273932_112273933del, NC_000002.12:g.112273933del, NC_000002.12:g.112273933dup, NC_000002.12:g.112273932_112273933dup, NC_000002.12:g.112273931_112273933dup, NC_000002.12:g.112273923_112273933dup, NC_000002.11:g.113031507_113031510del, NC_000002.11:g.113031508_113031510del, NC_000002.11:g.113031509_113031510del, NC_000002.11:g.113031510del, NC_000002.11:g.113031510dup, NC_000002.11:g.113031509_113031510dup, NC_000002.11:g.113031508_113031510dup, NC_000002.11:g.113031500_113031510dup

Select item 149105556011.

rs1491055560 has merged into rs5833445 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 2:112321375 (GRCh38)
2:113078952 (GRCh37)
Canonical SPDI:: NC_000002.12:112321368:TTTTTTTT:TTTTTT,NC_000002.12:112321368:TTTTTTTT:TTTTTTT,NC_000002.12:112321368:TTTTTTTT:TTTTTTTTT,NC_000002.12:112321368:TTTTTTTT:TTTTTTTTTT
Gene:: ZC3H6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
T=0.19111/3203 (TOMMO)
T=0.30921/1380 (1000Genomes)
HGVS:: NC_000002.12:g.112321375_112321376del, NC_000002.12:g.112321376del, NC_000002.12:g.112321376dup, NC_000002.12:g.112321375_112321376dup, NC_000002.11:g.113078952_113078953del, NC_000002.11:g.113078953del, NC_000002.11:g.113078953dup, NC_000002.11:g.113078952_113078953dup

Select item 149100227112.

rs1491002271 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAGT>- [Show Flanks]
Chromosome:: 2:112297802 (GRCh38)
2:113055379 (GRCh37)
Canonical SPDI:: NC_000002.12:112297800:TTAGT:T
Gene:: ZC3H6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000021/3 (GnomAD)
-=0.000038/10 (TOPMED)
HGVS:: NC_000002.12:g.112297802_112297805del, NC_000002.11:g.113055379_113055382del

Select item 149091343613.

rs1490913436 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:112284245 (GRCh38)
2:113041822 (GRCh37)
Canonical SPDI:: NC_000002.12:112284244:C:A
Gene:: ZC3H6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.112284245C>A, NC_000002.11:g.113041822C>A

Select item 149086476214.

rs1490864762 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 2:112323671 (GRCh38)
2:113081248 (GRCh37)
Canonical SPDI:: NC_000002.12:112323670:TT:T
Gene:: ZC3H6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.112323672del, NC_000002.11:g.113081249del

Select item 149083310415.

rs1490833104 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:112320694 (GRCh38)
2:113078272 (GRCh37)
Canonical SPDI:: NC_000002.12:112320694:A:AA
Gene:: ZC3H6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0.000084/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.112320695dup, NC_000002.11:g.113078272dup

Select item 149079755416.

rs1490797554 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:112290498 (GRCh38)
2:113048075 (GRCh37)
Canonical SPDI:: NC_000002.12:112290497:A:G
Gene:: ZC3H6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.112290498A>G, NC_000002.11:g.113048075A>G

Select item 149076475017.

rs1490764750 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:112286536 (GRCh38)
2:113044113 (GRCh37)
Canonical SPDI:: NC_000002.12:112286535:C:G,NC_000002.12:112286535:C:T
Gene:: ZC3H6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000042/11 (TOPMED)
T=0.000043/6 (GnomAD)
HGVS:: NC_000002.12:g.112286536C>G, NC_000002.12:g.112286536C>T, NC_000002.11:g.113044113C>G, NC_000002.11:g.113044113C>T, NG_046370.1:g.7G>C, NG_046370.1:g.7G>A

Select item 149072848718.

rs1490728487 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:112284327 (GRCh38)
2:113041904 (GRCh37)
Canonical SPDI:: NC_000002.12:112284326:G:A
Gene:: ZC3H6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.112284327G>A, NC_000002.11:g.113041904G>A

Select item 149072054919.

rs1490720549 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:112334668 (GRCh38)
2:113092245 (GRCh37)
Canonical SPDI:: NC_000002.12:112334667:G:C
Gene:: ZC3H6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.112334668G>C, NC_000002.11:g.113092245G>C, XM_006712519.4:c.*681G>C, XM_006712519.3:c.*681G>C, XM_006712519.2:c.*681G>C, XM_006712519.1:c.*681G>C, NM_198581.3:c.*2180G>C, NM_198581.2:c.*2180G>C

Select item 149063015020.

rs1490630150 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:112287635 (GRCh38)
2:113045212 (GRCh37)
Canonical SPDI:: NC_000002.12:112287634:C:G,NC_000002.12:112287634:C:T
Gene:: ZC3H6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.112287635C>G, NC_000002.12:g.112287635C>T, NC_000002.11:g.113045212C>G, NC_000002.11:g.113045212C>T

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