SNP Links for Gene (Select 90233) - SNP

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Select item 14915770461.

rs1491577046 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA [Show Flanks]
Chromosome:: 19:57690044 (GRCh38)
19:58201413 (GRCh37)
Canonical SPDI:: NC_000019.10:57690044:A:ATA
Gene:: ZNF551 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
AT=0.000021/3 (GnomAD)
AT=0.000034/9 (TOPMED)
HGVS:: NC_000019.10:g.57690045_57690046insTA, NC_000019.9:g.58201413_58201414insTA, NM_138347.5:c.*1757_*1758insTA, NM_001270938.2:c.*1757_*1758insTA, NR_073102.2:n.3833_3834insTA

Select item 14912958572.

rs1491295857 has merged into rs869070526 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 19:57681188 (GRCh38)
19:58192556 (GRCh37)
Canonical SPDI:: NC_000019.10:57681177:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:57681177:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:57681177:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:57681177:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:57681177:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: ZNF551 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.57681188_57681190del, NC_000019.10:g.57681189_57681190del, NC_000019.10:g.57681190del, NC_000019.10:g.57681190dup, NC_000019.10:g.57681189_57681190dup, NC_000019.9:g.58192556_58192558del, NC_000019.9:g.58192557_58192558del, NC_000019.9:g.58192558del, NC_000019.9:g.58192558dup, NC_000019.9:g.58192557_58192558dup

Select item 14912452293.

rs1491245229 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:57681005 (GRCh38)
19:58192373 (GRCh37)
Canonical SPDI:: NC_000019.10:57681004:AT:
Gene:: ZNF551 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.57681005_57681006del, NC_000019.9:g.58192373_58192374del

Select item 14903923424.

rs1490392342 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:57682309 (GRCh38)
19:58193677 (GRCh37)
Canonical SPDI:: NC_000019.10:57682308:G:A
Gene:: ZNF551 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.57682309G>A, NC_000019.9:g.58193677G>A

Select item 14901392595.

rs1490139259 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:57687084 (GRCh38)
19:58198452 (GRCh37)
Canonical SPDI:: NC_000019.10:57687083:A:G
Gene:: ZNF551 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_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.57687084A>G, NC_000019.9:g.58198452A>G, NM_138347.5:c.809A>G, NM_138347.4:c.809A>G, NM_001270938.2:c.725A>G, NM_001270938.1:c.725A>G, NR_073102.2:n.872A>G, NR_073102.1:n.880A>G, NP_612356.2:p.Gln270Arg, NP_001257867.1:p.Gln242Arg

Select item 14901244566.

rs1490124456 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:57685978 (GRCh38)
19:58197346 (GRCh37)
Canonical SPDI:: NC_000019.10:57685977:A:G
Gene:: ZNF551 (Varview)
Functional Consequence:: intron_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.57685978A>G, NC_000019.9:g.58197346A>G

Select item 14900689147.

rs1490068914 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:57684386 (GRCh38)
19:58195754 (GRCh37)
Canonical SPDI:: NC_000019.10:57684385:G:A,NC_000019.10:57684385:G:T
Gene:: ZNF551 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.57684386G>A, NC_000019.10:g.57684386G>T, NC_000019.9:g.58195754G>A, NC_000019.9:g.58195754G>T

Select item 14895291098.

rs1489529109 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:57688806 (GRCh38)
19:58200174 (GRCh37)
Canonical SPDI:: NC_000019.10:57688805:A:G
Gene:: ZNF551 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.57688806A>G, NC_000019.9:g.58200174A>G, NM_138347.5:c.*518A>G, NM_138347.4:c.*518A>G, NM_001270938.2:c.*518A>G, NM_001270938.1:c.*518A>G, NR_073102.2:n.2594A>G, NR_073102.1:n.2602A>G

Select item 14885212619.

rs1488521261 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:57688179 (GRCh38)
19:58199547 (GRCh37)
Canonical SPDI:: NC_000019.10:57688178:G:C
Gene:: ZNF551 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.57688179G>C, NC_000019.9:g.58199547G>C, NM_138347.5:c.1904G>C, NM_138347.4:c.1904G>C, NM_001270938.2:c.1820G>C, NM_001270938.1:c.1820G>C, NR_073102.2:n.1967G>C, NR_073102.1:n.1975G>C, NP_612356.2:p.Arg635Thr, NP_001257867.1:p.Arg607Thr

Select item 148811966810.

rs1488119668 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:57681656 (GRCh38)
19:58193024 (GRCh37)
Canonical SPDI:: NC_000019.10:57681655:T:G
Gene:: ZNF551 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.57681656T>G, NC_000019.9:g.58193024T>G

Select item 148809451811.

rs1488094518 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:57680244 (GRCh38)
19:58191612 (GRCh37)
Canonical SPDI:: NC_000019.10:57680243:C:G
Gene:: ZNF551 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.0002/1 (ALFA)
G=0.0002/1 (Estonian)
HGVS:: NC_000019.10:g.57680244C>G, NC_000019.9:g.58191612C>G

Select item 148779776212.

rs1487797762 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:57688679 (GRCh38)
19:58200047 (GRCh37)
Canonical SPDI:: NC_000019.10:57688678:C:G
Gene:: ZNF551 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_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.57688679C>G, NC_000019.9:g.58200047C>G, NM_138347.5:c.*391C>G, NM_138347.4:c.*391C>G, NM_001270938.2:c.*391C>G, NM_001270938.1:c.*391C>G, NR_073102.2:n.2467C>G, NR_073102.1:n.2475C>G

Select item 148709165913.

rs1487091659 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:57682006 (GRCh38)
19:58193374 (GRCh37)
Canonical SPDI:: NC_000019.10:57682005:C:T
Gene:: ZNF551 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000546/1 (Korea1K)
HGVS:: NC_000019.10:g.57682006C>T, NC_000019.9:g.58193374C>T, NM_138347.5:c.-158C>T, NM_138347.4:c.-158C>T, NM_001270938.2:c.-120C>T, NM_001270938.1:c.-120C>T, NR_073102.2:n.30C>T, NR_073102.1:n.38C>T

Select item 148670674614.

rs1486706746 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:57682362 (GRCh38)
19:58193730 (GRCh37)
Canonical SPDI:: NC_000019.10:57682361:G:T
Gene:: ZNF551 (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.57682362G>T, NC_000019.9:g.58193730G>T

Select item 148667979415.

rs1486679794 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:57682088 (GRCh38)
19:58193456 (GRCh37)
Canonical SPDI:: NC_000019.10:57682087:G:C
Gene:: ZNF551 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_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.57682088G>C, NC_000019.9:g.58193456G>C, NM_138347.5:c.-76G>C, NM_138347.4:c.-76G>C, NM_001270938.2:c.-38G>C, NM_001270938.1:c.-38G>C, NR_073102.2:n.112G>C, NR_073102.1:n.120G>C

Select item 148665776716.

rs1486657767 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:57681465 (GRCh38)
19:58192833 (GRCh37)
Canonical SPDI:: NC_000019.10:57681464:C:T
Gene:: ZNF551 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.57681465C>T, NC_000019.9:g.58192833C>T

Select item 148663241717.

rs1486632417 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:57681226 (GRCh38)
19:58192594 (GRCh37)
Canonical SPDI:: NC_000019.10:57681225:T:C,NC_000019.10:57681225:T:G
Gene:: ZNF551 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
C=0.000029/4 (GnomAD)
G=0.000546/1 (Korea1K)
HGVS:: NC_000019.10:g.57681226T>C, NC_000019.10:g.57681226T>G, NC_000019.9:g.58192594T>C, NC_000019.9:g.58192594T>G

Select item 148554343518.

rs1485543435 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:57683739 (GRCh38)
19:58195107 (GRCh37)
Canonical SPDI:: NC_000019.10:57683738:T:G
Gene:: ZNF551 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000991/17 (TOMMO)
G=0.001027/3 (KOREAN)
G=0.001092/2 (Korea1K)
HGVS:: NC_000019.10:g.57683739T>G, NC_000019.9:g.58195107T>G

Select item 148507417219.

rs1485074172 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:57682790 (GRCh38)
19:58194158 (GRCh37)
Canonical SPDI:: NC_000019.10:57682789:G:T
Gene:: ZNF551 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.57682790G>T, NC_000019.9:g.58194158G>T

Select item 148502250320.

rs1485022503 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:57681923 (GRCh38)
19:58193291 (GRCh37)
Canonical SPDI:: NC_000019.10:57681922:G:A
Gene:: ZNF551 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000019.10:g.57681923G>A, NC_000019.9:g.58193291G>A

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