SNP Links for Gene (Select 170959) - SNP

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Select item 14915431361.

rs1491543136 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 19:21187457 (GRCh38)
19:21370260 (GRCh37)
Canonical SPDI:: NC_000019.10:21187454:AGAG:AG
Gene:: ZNF431 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.01278/207 (TOMMO)
-=0.14853/2747 (GnomAD)
HGVS:: NC_000019.10:g.21187455AG[1], NC_000019.9:g.21370258AG[1], NG_051229.1:g.50447AG[1], NM_133473.4:c.*3421AG[1], NM_001319127.2:c.*3421AG[1], NM_001319126.2:c.*3421AG[1], NM_001319124.2:c.*3421AG[1], XR_001753620.2:n.4008AG[1], XR_001753620.1:n.4039AG[1], XR_007066664.1:n.4011AG[1], XR_007066667.1:n.3891AG[1], XR_007066669.1:n.3888AG[1]

Select item 14913537622.

rs1491353762 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 19:21147605 (GRCh38)
19:21330408 (GRCh37)
Canonical SPDI:: NC_000019.10:21147604:GA:
Gene:: ZNF431 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000019.10:g.21147605_21147606del, NC_000019.9:g.21330408_21330409del, NG_051229.1:g.10597_10598del

Select item 14913121843.

rs1491312184 has merged into rs550012306 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:21171727 (GRCh38)
19:21354530 (GRCh37)
Canonical SPDI:: NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:21171712:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZNF431 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.21171727_21171739del, NC_000019.10:g.21171728_21171739del, NC_000019.10:g.21171732_21171739del, NC_000019.10:g.21171733_21171739del, NC_000019.10:g.21171734_21171739del, NC_000019.10:g.21171735_21171739del, NC_000019.10:g.21171736_21171739del, NC_000019.10:g.21171737_21171739del, NC_000019.10:g.21171738_21171739del, NC_000019.10:g.21171739del, NC_000019.10:g.21171739dup, NC_000019.10:g.21171738_21171739dup, NC_000019.10:g.21171737_21171739dup, NC_000019.10:g.21171736_21171739dup, NC_000019.10:g.21171734_21171739dup, NC_000019.10:g.21171733_21171739dup, NC_000019.10:g.21171732_21171739dup, NC_000019.9:g.21354530_21354542del, NC_000019.9:g.21354531_21354542del, NC_000019.9:g.21354535_21354542del, NC_000019.9:g.21354536_21354542del, NC_000019.9:g.21354537_21354542del, NC_000019.9:g.21354538_21354542del, NC_000019.9:g.21354539_21354542del, NC_000019.9:g.21354540_21354542del, NC_000019.9:g.21354541_21354542del, NC_000019.9:g.21354542del, NC_000019.9:g.21354542dup, NC_000019.9:g.21354541_21354542dup, NC_000019.9:g.21354540_21354542dup, NC_000019.9:g.21354539_21354542dup, NC_000019.9:g.21354537_21354542dup, NC_000019.9:g.21354536_21354542dup, NC_000019.9:g.21354535_21354542dup, NG_051229.1:g.34719_34731del, NG_051229.1:g.34720_34731del, NG_051229.1:g.34724_34731del, NG_051229.1:g.34725_34731del, NG_051229.1:g.34726_34731del, NG_051229.1:g.34727_34731del, NG_051229.1:g.34728_34731del, NG_051229.1:g.34729_34731del, NG_051229.1:g.34730_34731del, NG_051229.1:g.34731del, NG_051229.1:g.34731dup, NG_051229.1:g.34730_34731dup, NG_051229.1:g.34729_34731dup, NG_051229.1:g.34728_34731dup, NG_051229.1:g.34726_34731dup, NG_051229.1:g.34725_34731dup, NG_051229.1:g.34724_34731dup

Select item 14910425914.

rs1491042591 has merged into rs112684254 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:21157859 (GRCh38)
19:21340662 (GRCh37)
Canonical SPDI:: NC_000019.10:21157848:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:21157848:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:21157848:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:21157848:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:21157848:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:21157848:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:21157848:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:21157848:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZNF431 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.21157859_21157864del, NC_000019.10:g.21157862_21157864del, NC_000019.10:g.21157863_21157864del, NC_000019.10:g.21157864del, NC_000019.10:g.21157864dup, NC_000019.10:g.21157863_21157864dup, NC_000019.10:g.21157862_21157864dup, NC_000019.10:g.21157853_21157864dup, NC_000019.9:g.21340662_21340667del, NC_000019.9:g.21340665_21340667del, NC_000019.9:g.21340666_21340667del, NC_000019.9:g.21340667del, NC_000019.9:g.21340667dup, NC_000019.9:g.21340666_21340667dup, NC_000019.9:g.21340665_21340667dup, NC_000019.9:g.21340656_21340667dup, NG_051229.1:g.20851_20856del, NG_051229.1:g.20854_20856del, NG_051229.1:g.20855_20856del, NG_051229.1:g.20856del, NG_051229.1:g.20856dup, NG_051229.1:g.20855_20856dup, NG_051229.1:g.20854_20856dup, NG_051229.1:g.20845_20856dup

Select item 14910299555.

rs1491029955 has merged into rs34934773 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 19:21164092 (GRCh38)
19:21346895 (GRCh37)
Canonical SPDI:: NC_000019.10:21164079:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:21164079:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:21164079:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:21164079:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:21164079:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:21164079:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:21164079:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:21164079:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:21164079:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: ZNF431 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.3375/1690 (1000Genomes)
HGVS:: NC_000019.10:g.21164092_21164095del, NC_000019.10:g.21164093_21164095del, NC_000019.10:g.21164094_21164095del, NC_000019.10:g.21164095del, NC_000019.10:g.21164095dup, NC_000019.10:g.21164094_21164095dup, NC_000019.10:g.21164093_21164095dup, NC_000019.10:g.21164092_21164095dup, NC_000019.10:g.21164091_21164095dup, NC_000019.9:g.21346895_21346898del, NC_000019.9:g.21346896_21346898del, NC_000019.9:g.21346897_21346898del, NC_000019.9:g.21346898del, NC_000019.9:g.21346898dup, NC_000019.9:g.21346897_21346898dup, NC_000019.9:g.21346896_21346898dup, NC_000019.9:g.21346895_21346898dup, NC_000019.9:g.21346894_21346898dup, NG_051229.1:g.27084_27087del, NG_051229.1:g.27085_27087del, NG_051229.1:g.27086_27087del, NG_051229.1:g.27087del, NG_051229.1:g.27087dup, NG_051229.1:g.27086_27087dup, NG_051229.1:g.27085_27087dup, NG_051229.1:g.27084_27087dup, NG_051229.1:g.27083_27087dup

Select item 14910163036.

rs1491016303 has merged into rs749424799 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 19:21162156 (GRCh38)
19:21344959 (GRCh37)
Canonical SPDI:: NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:21162144:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: ZNF431 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.078879/304 (ALSPAC)
HGVS:: NC_000019.10:g.21162146GT[5], NC_000019.10:g.21162146GT[11], NC_000019.10:g.21162146GT[12], NC_000019.10:g.21162146GT[13], NC_000019.10:g.21162146GT[14], NC_000019.10:g.21162146GT[15], NC_000019.10:g.21162146GT[16], NC_000019.10:g.21162146GT[17], NC_000019.10:g.21162146GT[18], NC_000019.10:g.21162146GT[19], NC_000019.10:g.21162146GT[21], NC_000019.10:g.21162146GT[22], NC_000019.10:g.21162146GT[23], NC_000019.10:g.21162146GT[24], NC_000019.10:g.21162146GT[25], NC_000019.10:g.21162146GT[26], NC_000019.10:g.21162146GT[28], NC_000019.9:g.21344949GT[5], NC_000019.9:g.21344949GT[11], NC_000019.9:g.21344949GT[12], NC_000019.9:g.21344949GT[13], NC_000019.9:g.21344949GT[14], NC_000019.9:g.21344949GT[15], NC_000019.9:g.21344949GT[16], NC_000019.9:g.21344949GT[17], NC_000019.9:g.21344949GT[18], NC_000019.9:g.21344949GT[19], NC_000019.9:g.21344949GT[21], NC_000019.9:g.21344949GT[22], NC_000019.9:g.21344949GT[23], NC_000019.9:g.21344949GT[24], NC_000019.9:g.21344949GT[25], NC_000019.9:g.21344949GT[26], NC_000019.9:g.21344949GT[28], NG_051229.1:g.25138GT[5], NG_051229.1:g.25138GT[11], NG_051229.1:g.25138GT[12], NG_051229.1:g.25138GT[13], NG_051229.1:g.25138GT[14], NG_051229.1:g.25138GT[15], NG_051229.1:g.25138GT[16], NG_051229.1:g.25138GT[17], NG_051229.1:g.25138GT[18], NG_051229.1:g.25138GT[19], NG_051229.1:g.25138GT[21], NG_051229.1:g.25138GT[22], NG_051229.1:g.25138GT[23], NG_051229.1:g.25138GT[24], NG_051229.1:g.25138GT[25], NG_051229.1:g.25138GT[26], NG_051229.1:g.25138GT[28]

Select item 14909290207.

rs1490929020 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:21180043 (GRCh38)
19:21362846 (GRCh37)
Canonical SPDI:: NC_000019.10:21180042:A:G
Gene:: ZNF431 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.21180043A>G, NC_000019.9:g.21362846A>G, NG_051229.1:g.43035A>G

Select item 14907585668.

rs1490758566 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:21173228 (GRCh38)
19:21356031 (GRCh37)
Canonical SPDI:: NC_000019.10:21173227:G:C
Gene:: ZNF431 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.21173228G>C, NC_000019.9:g.21356031G>C, NG_051229.1:g.36220G>C

Select item 14907345989.

rs1490734598 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCT>- [Show Flanks]
Chromosome:: 19:21178016 (GRCh38)
19:21360819 (GRCh37)
Canonical SPDI:: NC_000019.10:21178013:CTCCT:CT
Gene:: ZNF431 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.21178016_21178018del, NC_000019.9:g.21360819_21360821del, NG_051229.1:g.41008_41010del

Select item 149065970610.

rs1490659706 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:21161201 (GRCh38)
19:21344004 (GRCh37)
Canonical SPDI:: NC_000019.10:21161200:A:G
Gene:: ZNF431 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.21161201A>G, NC_000019.9:g.21344004A>G, NG_051229.1:g.24193A>G

Select item 149064465611.

rs1490644656 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:21163318 (GRCh38)
19:21346121 (GRCh37)
Canonical SPDI:: NC_000019.10:21163317:A:G
Gene:: ZNF431 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.21163318A>G, NC_000019.9:g.21346121A>G, NG_051229.1:g.26310A>G

Select item 149054340512.

rs1490543405 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 19:21143026 (GRCh38)
19:21325830 (GRCh37)
Canonical SPDI:: NC_000019.10:21143026:AA:AAA
Gene:: ZNF431 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.21143028dup, NC_000019.9:g.21325831dup, NG_051229.1:g.6020dup

Select item 149051625113.

rs1490516251 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:21157241 (GRCh38)
19:21340044 (GRCh37)
Canonical SPDI:: NC_000019.10:21157240:A:T
Gene:: ZNF431 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00006/1 (ALFA)
T=0.00018/5 (TOMMO)
T=0.00022/1 (Estonian)
HGVS:: NC_000019.10:g.21157241A>T, NC_000019.9:g.21340044A>T, NG_051229.1:g.20233A>T

Select item 149049732114.

rs1490497321 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:21180455 (GRCh38)
19:21363258 (GRCh37)
Canonical SPDI:: NC_000019.10:21180454:G:A
Gene:: ZNF431 (Varview)
Functional Consequence:: intron_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.21180455G>A, NC_000019.9:g.21363258G>A, NG_051229.1:g.43447G>A

Select item 149039223515.

rs1490392235 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:21194142 (GRCh38)
19:21376945 (GRCh37)
Canonical SPDI:: NC_000019.10:21194141:A:G
Gene:: ZNF431 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_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.21194142A>G, NC_000019.9:g.21376945A>G, NG_051229.1:g.57134A>G, NM_133473.4:c.*10108A>G, NM_001319127.2:c.*10108A>G, NM_001319126.2:c.*10108A>G, NM_001319124.2:c.*10108A>G, NR_138052.2:n.6786A>G, NR_138052.1:n.6816A>G, NR_138053.2:n.6719A>G, NR_138053.1:n.6749A>G

Select item 149035888816.

rs1490358888 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:21179432 (GRCh38)
19:21362235 (GRCh37)
Canonical SPDI:: NC_000019.10:21179431:T:A
Gene:: ZNF431 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.21179432T>A, NC_000019.9:g.21362235T>A, NG_051229.1:g.42424T>A

Select item 149034892117.

rs1490348921 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:21159077 (GRCh38)
19:21341880 (GRCh37)
Canonical SPDI:: NC_000019.10:21159076:G:A,NC_000019.10:21159076:G:T
Gene:: ZNF431 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.21159077G>A, NC_000019.10:g.21159077G>T, NC_000019.9:g.21341880G>A, NC_000019.9:g.21341880G>T, NG_051229.1:g.22069G>A, NG_051229.1:g.22069G>T

Select item 149031173118.

rs1490311731 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 19:21165519 (GRCh38)
19:21348322 (GRCh37)
Canonical SPDI:: NC_000019.10:21165518:G:
Gene:: ZNF431 (Varview)
Functional Consequence:: intron_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.21165519del, NC_000019.9:g.21348322del, NG_051229.1:g.28511del

Select item 149020793919.

rs1490207939 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:21143982 (GRCh38)
19:21326785 (GRCh37)
Canonical SPDI:: NC_000019.10:21143981:C:G
Gene:: ZNF431 (Varview)
Functional Consequence:: intron_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.21143982C>G, NC_000019.9:g.21326785C>G, NG_051229.1:g.6974C>G

Select item 149014328220.

rs1490143282 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:21150376 (GRCh38)
19:21333179 (GRCh37)
Canonical SPDI:: NC_000019.10:21150375:C:T
Gene:: ZNF431 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000162/3 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.21150376C>T, NC_000019.9:g.21333179C>T, NG_001317.4:g.183G>A, NG_051229.1:g.13368C>T

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