SNP Links for Gene (Select 148213) - SNP

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Select item 14915104511.

rs1491510451 has merged into rs35666566 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA [Show Flanks]
Chromosome:: 19:23755600 (GRCh38)
19:23938402 (GRCh37)
Canonical SPDI:: NC_000019.10:23755598:ATA:A,NC_000019.10:23755598:ATA:ATATA
Gene:: ZNF681 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.13261/1573 (ALFA)
-=0.07819/1310 (TOMMO)
-=0.18667/112 (NorthernSweden)
-=0.25/10 (GENOME_DK)
-=0.26016/17993 (GnomAD)
-=0.30642/10832 (ExAC)
HGVS:: NC_000019.10:g.23755600_23755601del, NC_000019.10:g.23755600_23755601dup, NC_000019.9:g.23938402_23938403del, NC_000019.9:g.23938402_23938403dup

Select item 14914960272.

rs1491496027 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATATA,ATATATA [Show Flanks]
Chromosome:: 19:23760670 (GRCh38)
19:23943473 (GRCh37)
Canonical SPDI:: NC_000019.10:23760670::A,NC_000019.10:23760670::ATA,NC_000019.10:23760670::ATATA,NC_000019.10:23760670::ATATATA
Gene:: ZNF681 (Varview), RPSAP58 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
A=0.00028/4 (TOMMO)
HGVS:: NC_000019.10:g.23760670_23760671insA, NC_000019.10:g.23760670_23760671insATA, NC_000019.10:g.23760670_23760671insATATA, NC_000019.10:g.23760670_23760671insATATATA, NC_000019.9:g.23943472_23943473insA, NC_000019.9:g.23943472_23943473insATA, NC_000019.9:g.23943472_23943473insATATA, NC_000019.9:g.23943472_23943473insATATATA

Select item 14914949633.

rs1491494963 has merged into rs57974422 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAACCAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:23747654 (GRCh38)
19:23930456 (GRCh37)
Canonical SPDI:: NC_000019.10:23747639:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:23747639:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:23747639:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:23747639:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:23747639:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:23747639:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:23747639:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:23747639:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:23747639:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:23747639:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:23747639:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:23747639:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:23747639:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:23747639:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:23747639:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAACCAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZNF681 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
AAAA=0.3548/1777 (1000Genomes)
HGVS:: NC_000019.10:g.23747654_23747661del, NC_000019.10:g.23747655_23747661del, NC_000019.10:g.23747656_23747661del, NC_000019.10:g.23747657_23747661del, NC_000019.10:g.23747658_23747661del, NC_000019.10:g.23747659_23747661del, NC_000019.10:g.23747660_23747661del, NC_000019.10:g.23747661del, NC_000019.10:g.23747661dup, NC_000019.10:g.23747660_23747661dup, NC_000019.10:g.23747657_23747661dup, NC_000019.10:g.23747651_23747661dup, NC_000019.10:g.23747661_23747662insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.23747640_23747661A[22]CAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000019.10:g.23747640_23747661A[22]CCAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000019.9:g.23930456_23930463del, NC_000019.9:g.23930457_23930463del, NC_000019.9:g.23930458_23930463del, NC_000019.9:g.23930459_23930463del, NC_000019.9:g.23930460_23930463del, NC_000019.9:g.23930461_23930463del, NC_000019.9:g.23930462_23930463del, NC_000019.9:g.23930463del, NC_000019.9:g.23930463dup, NC_000019.9:g.23930462_23930463dup, NC_000019.9:g.23930459_23930463dup, NC_000019.9:g.23930453_23930463dup, NC_000019.9:g.23930463_23930464insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.23930442_23930463A[22]CAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000019.9:g.23930442_23930463A[22]CCAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14914263834.

rs1491426383 has merged into rs11329521 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 19:23760677 (GRCh38)
19:23943479 (GRCh37)
Canonical SPDI:: NC_000019.10:23760669:TTTTTTTTTTTTT:TTTTTTT,NC_000019.10:23760669:TTTTTTTTTTTTT:TTTTTTTT,NC_000019.10:23760669:TTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:23760669:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:23760669:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:23760669:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:23760669:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:23760669:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: ZNF681 (Varview), RPSAP58 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.0957/369 (ALSPAC)
HGVS:: NC_000019.10:g.23760677_23760682del, NC_000019.10:g.23760678_23760682del, NC_000019.10:g.23760679_23760682del, NC_000019.10:g.23760680_23760682del, NC_000019.10:g.23760681_23760682del, NC_000019.10:g.23760682del, NC_000019.10:g.23760682dup, NC_000019.10:g.23760680_23760682dup, NC_000019.9:g.23943479_23943484del, NC_000019.9:g.23943480_23943484del, NC_000019.9:g.23943481_23943484del, NC_000019.9:g.23943482_23943484del, NC_000019.9:g.23943483_23943484del, NC_000019.9:g.23943484del, NC_000019.9:g.23943484dup, NC_000019.9:g.23943482_23943484dup

Select item 14913838695.

rs1491383869 has merged into rs148484383 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A,AA,AAA,AAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 19:23738929 (GRCh38)
19:23921732 (GRCh37)
Canonical SPDI:: NC_000019.10:23738929:AAAAAAA:AAAAAAAA,NC_000019.10:23738929:AAAAAAA:AAAAAAAAA,NC_000019.10:23738929:AAAAAAA:AAAAAAAAAA,NC_000019.10:23738929:AAAAAAA:AAAAAAAAAAAAA,NC_000019.10:23738929:AAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: ZNF681 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.23738936dup, NC_000019.10:g.23738935_23738936dup, NC_000019.10:g.23738934_23738936dup, NC_000019.10:g.23738931_23738936dup, NC_000019.10:g.23738936_23738937insAAAAAAAAAAA, NC_000019.9:g.23921738dup, NC_000019.9:g.23921737_23921738dup, NC_000019.9:g.23921736_23921738dup, NC_000019.9:g.23921733_23921738dup, NC_000019.9:g.23921738_23921739insAAAAAAAAAAA

Select item 14913107336.

rs1491310733 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:23747639 (GRCh38)
19:23930441 (GRCh37)
Canonical SPDI:: NC_000019.10:23747638:CA:
Gene:: ZNF681 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00717/85 (ALFA)
HGVS:: NC_000019.10:g.23747639_23747640del, NC_000019.9:g.23930441_23930442del

Select item 14909335307.

rs1490933530 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:23752462 (GRCh38)
19:23935264 (GRCh37)
Canonical SPDI:: NC_000019.10:23752461:T:C
Gene:: ZNF681 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000053/14 (TOPMED)
C=0.000057/8 (GnomAD)
HGVS:: NC_000019.10:g.23752462T>C, NC_000019.9:g.23935264T>C

Select item 14909305218.

rs1490930521 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:23746560 (GRCh38)
19:23929362 (GRCh37)
Canonical SPDI:: NC_000019.10:23746559:G:A
Gene:: ZNF681 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.23746560G>A, NC_000019.9:g.23929362G>A

Select item 14908154459.

rs1490815445 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:23746237 (GRCh38)
19:23929039 (GRCh37)
Canonical SPDI:: NC_000019.10:23746236:C:T
Gene:: ZNF681 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.23746237C>T, NC_000019.9:g.23929039C>T

Select item 149075012110.

rs1490750121 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:23760018 (GRCh38)
19:23942820 (GRCh37)
Canonical SPDI:: NC_000019.10:23760017:G:C
Gene:: ZNF681 (Varview), RPSAP58 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_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_000019.10:g.23760018G>C, NC_000019.9:g.23942820G>C

Select item 149072539711.

rs1490725397 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:23759039 (GRCh38)
19:23941841 (GRCh37)
Canonical SPDI:: NC_000019.10:23759038:C:A
Gene:: ZNF681 (Varview), RPSAP58 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.23759039C>A, NC_000019.9:g.23941841C>A, NR_170714.1:n.544C>A

Select item 149065029912.

rs1490650299 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:23745643 (GRCh38)
19:23928445 (GRCh37)
Canonical SPDI:: NC_000019.10:23745642:G:T
Gene:: ZNF681 (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.23745643G>T, NC_000019.9:g.23928445G>T

Select item 149061274713.

rs1490612747 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:23760501 (GRCh38)
19:23943303 (GRCh37)
Canonical SPDI:: NC_000019.10:23760500:G:C
Gene:: ZNF681 (Varview), RPSAP58 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.23760501G>C, NC_000019.9:g.23943303G>C

Select item 148999375114.

rs1489993751 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:23750893 (GRCh38)
19:23933695 (GRCh37)
Canonical SPDI:: NC_000019.10:23750892:G:A,NC_000019.10:23750892:G:T
Gene:: ZNF681 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.23750893G>A, NC_000019.10:g.23750893G>T, NC_000019.9:g.23933695G>A, NC_000019.9:g.23933695G>T

Select item 148991057015.

rs1489910570 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAT>- [Show Flanks]
Chromosome:: 19:23743286 (GRCh38)
19:23926088 (GRCh37)
Canonical SPDI:: NC_000019.10:23743283:ATAAT:AT
Gene:: ZNF681 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AT=0.000071/1 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.23743286_23743288del, NC_000019.9:g.23926088_23926090del, NM_138286.3:c.*326_*328del, NM_138286.2:c.*326_*328del

Select item 148978299016.

rs1489782990 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:23751929 (GRCh38)
19:23934731 (GRCh37)
Canonical SPDI:: NC_000019.10:23751928:C:T
Gene:: ZNF681 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.23751929C>T, NC_000019.9:g.23934731C>T

Select item 148975383117.

rs1489753831 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:23744447 (GRCh38)
19:23927249 (GRCh37)
Canonical SPDI:: NC_000019.10:23744446:C:A
Gene:: ZNF681 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.23744447C>A, NC_000019.9:g.23927249C>A, NM_138286.3:c.1103G>T, NM_138286.2:c.1103G>T, NP_612143.2:p.Cys368Phe

Select item 148973852418.

rs1489738524 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:23748816 (GRCh38)
19:23931618 (GRCh37)
Canonical SPDI:: NC_000019.10:23748815:A:G
Gene:: ZNF681 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000023/6 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.23748816A>G, NC_000019.9:g.23931618A>G

Select item 148973220019.

rs1489732200 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 19:23751129 (GRCh38)
19:23933931 (GRCh37)
Canonical SPDI:: NC_000019.10:23751128:C:
Gene:: ZNF681 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000019.10:g.23751129del, NC_000019.9:g.23933931del

Select item 148952341120.

rs1489523411 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:23739745 (GRCh38)
19:23922547 (GRCh37)
Canonical SPDI:: NC_000019.10:23739744:T:C
Gene:: ZNF681 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.23739745T>C, NC_000019.9:g.23922547T>C, NG_015697.1:g.271A>G, NM_138286.3:c.*3867A>G, NM_138286.2:c.*3867A>G

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