SNP Links for Gene (Select 162993) - SNP

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Select item 14915491951.

rs1491549195 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 19:9754564 (GRCh38)
19:9865240 (GRCh37)
Canonical SPDI:: NC_000019.10:9754563:TA:
Gene:: ZNF846 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00015/11 (GnomAD)
HGVS:: NC_000019.10:g.9754564_9754565del, NC_000019.9:g.9865240_9865241del

Select item 14915124892.

rs1491512489 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:9752614 (GRCh38)
19:9863290 (GRCh37)
Canonical SPDI:: NC_000019.10:9752613:CA:
Gene:: ZNF846 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000019.10:g.9752614_9752615del, NC_000019.9:g.9863290_9863291del

Select item 14914610413.

rs1491461041 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AAAA,AAAAA [Show Flanks]
Chromosome:: 19:9776339 (GRCh38)
19:9887016 (GRCh37)
Canonical SPDI:: NC_000019.10:9776339::A,NC_000019.10:9776339::AAAA,NC_000019.10:9776339::AAAAA
Gene:: ZNF846 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0.016898/256 (ALFA)
AAAA=0.037118/68 (Korea1K)
AAAA=0.057813/259 (Estonian)
AAAA=0.073333/44 (NorthernSweden)
A=0.099512/1668 (TOMMO)
AAAA=0.108456/15202 (GnomAD)
AAAA=0.144597/926 (1000Genomes)
HGVS:: NC_000019.10:g.9776339_9776340insA, NC_000019.10:g.9776339_9776340insAAAA, NC_000019.10:g.9776339_9776340insAAAAA, NC_000019.9:g.9887015_9887016insA, NC_000019.9:g.9887015_9887016insAAAA, NC_000019.9:g.9887015_9887016insAAAAA

Select item 14912759594.

rs1491275959 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:9778803 (GRCh38)
19:9889479 (GRCh37)
Canonical SPDI:: NC_000019.10:9778802:CA:
Gene:: ZNF846 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000019.10:g.9778803_9778804del, NC_000019.9:g.9889479_9889480del

Select item 14912439295.

rs1491243929 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAAA [Show Flanks]
Chromosome:: 19:9756386 (GRCh38)
19:9867062 (GRCh37)
Canonical SPDI:: NC_000019.10:9756384:AAA:A,NC_000019.10:9756384:AAA:AAAAA
Gene:: ZNF846 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: AAAAA=0./0 (ALFA)
-=0.000009/1 (GnomAD)
HGVS:: NC_000019.10:g.9756386_9756387del, NC_000019.10:g.9756386_9756387dup, NC_000019.9:g.9867062_9867063del, NC_000019.9:g.9867062_9867063dup, NM_001077624.3:c.*1089_*1090del, NM_001077624.3:c.*1089_*1090dup, NM_001353799.2:c.*1089_*1090del, NM_001353799.2:c.*1089_*1090dup, NM_001353798.2:c.*1089_*1090del, NM_001353798.2:c.*1089_*1090dup

Select item 14911333196.

rs1491133319 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 19:9776339 (GRCh38)
19:9887015 (GRCh37)
Canonical SPDI:: NC_000019.10:9776338:CC:
Gene:: ZNF846 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000071/8 (GnomAD)
HGVS:: NC_000019.10:g.9776339_9776340del, NC_000019.9:g.9887015_9887016del

Select item 14911222597.

rs1491122259 has merged into rs58139573 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:9766424 (GRCh38)
19:9877100 (GRCh37)
Canonical SPDI:: NC_000019.10:9766412:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:9766412:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:9766412:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:9766412:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:9766412:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:9766412:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:9766412:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:9766412:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:9766412:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:9766412:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9766412:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZNF846 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.000042/11 (TOPMED)
-=0.014644/7 (NorthernSweden)
HGVS:: NC_000019.10:g.9766424_9766429del, NC_000019.10:g.9766425_9766429del, NC_000019.10:g.9766426_9766429del, NC_000019.10:g.9766427_9766429del, NC_000019.10:g.9766428_9766429del, NC_000019.10:g.9766429del, NC_000019.10:g.9766429dup, NC_000019.10:g.9766428_9766429dup, NC_000019.10:g.9766427_9766429dup, NC_000019.10:g.9766422_9766429dup, NC_000019.10:g.9766429_9766430insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.9877100_9877105del, NC_000019.9:g.9877101_9877105del, NC_000019.9:g.9877102_9877105del, NC_000019.9:g.9877103_9877105del, NC_000019.9:g.9877104_9877105del, NC_000019.9:g.9877105del, NC_000019.9:g.9877105dup, NC_000019.9:g.9877104_9877105dup, NC_000019.9:g.9877103_9877105dup, NC_000019.9:g.9877098_9877105dup, NC_000019.9:g.9877105_9877106insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14910896818.

rs1491089681 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCACACACAC [Show Flanks]
Chromosome:: 19:9777139 (GRCh38)
19:9887816 (GRCh37)
Canonical SPDI:: NC_000019.10:9777139:CACACACACGCACACACAC:CACACACACGCACACACACGCACACACAC
Gene:: ZNF846 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CACACACACGCACACACACGCACACACAC=0./0 (ALFA)
HGVS:: NC_000019.10:g.9777149_9777158dup, NC_000019.9:g.9887825_9887834dup

Select item 14909757729.

rs1490975772 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:9757262 (GRCh38)
19:9867938 (GRCh37)
Canonical SPDI:: NC_000019.10:9757261:A:T
Gene:: ZNF846 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.9757262A>T, NC_000019.9:g.9867938A>T, NM_001077624.3:c.*213T>A, NM_001353799.2:c.*213T>A, NM_001353798.2:c.*213T>A

Select item 149089137310.

rs1490891373 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:9771894 (GRCh38)
19:9882570 (GRCh37)
Canonical SPDI:: NC_000019.10:9771893:A:G
Gene:: ZNF846 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.9771894A>G, NC_000019.9:g.9882570A>G

Select item 149082683711.

rs1490826837 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 19:9785660 (GRCh38)
19:9896336 (GRCh37)
Canonical SPDI:: NC_000019.10:9785659:A:C,NC_000019.10:9785659:A:T
Gene:: ZNF846 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0891/1040 (ALFA)
A=0./0 (SGDP_PRJ)
T=0.00007/1 (GnomAD)
C=0.08149/214 (KOREAN)
HGVS:: NC_000019.10:g.9785660A>C, NC_000019.10:g.9785660A>T, NC_000019.9:g.9896336A>C, NC_000019.9:g.9896336A>T

Select item 149079714812.

rs1490797148 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:9785086 (GRCh38)
19:9895762 (GRCh37)
Canonical SPDI:: NC_000019.10:9785085:C:G
Gene:: ZNF846 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.9785086C>G, NC_000019.9:g.9895762C>G

Select item 149067562113.

rs1490675621 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:9761976 (GRCh38)
19:9872652 (GRCh37)
Canonical SPDI:: NC_000019.10:9761975:A:G
Gene:: ZNF846 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.9761976A>G, NC_000019.9:g.9872652A>G

Select item 149067305514.

rs1490673055 has merged into rs907897144 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAAACAAA>-,CAAA,CAAACAAACAAA [Show Flanks]
Chromosome:: 19:9765689 (GRCh38)
19:9876365 (GRCh37)
Canonical SPDI:: NC_000019.10:9765673:AAACAAACAAACAAACAAACAAA:AAACAAACAAACAAA,NC_000019.10:9765673:AAACAAACAAACAAACAAACAAA:AAACAAACAAACAAACAAA,NC_000019.10:9765673:AAACAAACAAACAAACAAACAAA:AAACAAACAAACAAACAAACAAACAAA
Gene:: ZNF846 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAACAAACAAACAAACAAACAAACAAA=0./0 (ALFA)
AAAC=0.00006/1 (TOMMO)
-=0.00055/1 (Korea1K)
-=0.00067/3 (Estonian)
-=0.00109/7 (1000Genomes)
HGVS:: NC_000019.10:g.9765677CAAA[3], NC_000019.10:g.9765677CAAA[4], NC_000019.10:g.9765677CAAA[6], NC_000019.9:g.9876353CAAA[3], NC_000019.9:g.9876353CAAA[4], NC_000019.9:g.9876353CAAA[6]

Select item 149065209715.

rs1490652097 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:9778434 (GRCh38)
19:9889110 (GRCh37)
Canonical SPDI:: NC_000019.10:9778433:T:G
Gene:: ZNF846 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.9778434T>G, NC_000019.9:g.9889110T>G

Select item 149061963816.

rs1490619638 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:9764879 (GRCh38)
19:9875555 (GRCh37)
Canonical SPDI:: NC_000019.10:9764878:G:T
Gene:: ZNF846 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,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.9764879G>T, NC_000019.9:g.9875555G>T, NR_172872.1:n.607C>A, NM_001395833.1:c.-163C>A

Select item 149048082017.

rs1490480820 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:9757645 (GRCh38)
19:9868321 (GRCh37)
Canonical SPDI:: NC_000019.10:9757644:A:G
Gene:: ZNF846 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.9757645A>G, NC_000019.9:g.9868321A>G, NM_001077624.3:c.1432T>C, NM_001077624.2:c.1432T>C, NM_001077624.1:c.1432T>C, NM_001353799.2:c.1429T>C, NM_001353799.1:c.1429T>C, NM_001353798.2:c.1045T>C, NM_001353798.1:c.1045T>C, NP_001071092.1:p.Tyr478His, NP_001340728.1:p.Tyr477His, NP_001340727.1:p.Tyr349His

Select item 149038226018.

rs1490382260 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:9778746 (GRCh38)
19:9889422 (GRCh37)
Canonical SPDI:: NC_000019.10:9778745:T:C
Gene:: ZNF846 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000142/2 (ALFA)
C=0.000015/2 (GnomAD)
HGVS:: NC_000019.10:g.9778746T>C, NC_000019.9:g.9889422T>C

Select item 149036078719.

rs1490360787 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:9771323 (GRCh38)
19:9881999 (GRCh37)
Canonical SPDI:: NC_000019.10:9771322:A:G
Gene:: ZNF846 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.9771323A>G, NC_000019.9:g.9881999A>G

Select item 149025544120.

rs1490255441 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:9775768 (GRCh38)
19:9886444 (GRCh37)
Canonical SPDI:: NC_000019.10:9775767:G:A
Gene:: ZNF846 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.9775768G>A, NC_000019.9:g.9886444G>A

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