SNP Links for Gene (Select 10147) - SNP

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Select item 14915872041.

rs1491587204 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:18997782 (GRCh38)
19:19108591 (GRCh37)
Canonical SPDI:: NC_000019.10:18997781:CA:
Gene:: SUGP2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00531/63 (ALFA)
-=0.0017/47 (TOMMO)
HGVS:: NC_000019.10:g.18997782_18997783del, NC_000019.9:g.19108591_19108592del

Select item 14915446812.

rs1491544681 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,GAAAGAT [Show Flanks]
Chromosome:: 19:18997802 (GRCh38)
19:19108612 (GRCh37)
Canonical SPDI:: NC_000019.10:18997802::G,NC_000019.10:18997802::GAAAGAT
Gene:: SUGP2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000059/8 (GnomAD)
HGVS:: NC_000019.10:g.18997802_18997803insG, NC_000019.10:g.18997802_18997803insGAAAGAT, NC_000019.9:g.19108611_19108612insG, NC_000019.9:g.19108611_19108612insGAAAGAT

Select item 14915369363.

rs1491536936 [Homo sapiens]

Variant type:: INS
Alleles:: ->AGA [Show Flanks]
Chromosome:: 19:19024142 (GRCh38)
19:19134952 (GRCh37)
Canonical SPDI:: NC_000019.10:19024142::AGA
Gene:: SUGP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGA=0./0 (ALFA)
AGA=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.19024142_19024143insAGA, NC_000019.9:g.19134951_19134952insAGA

Select item 14913800654.

rs1491380065 has merged into rs58282570 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:19002514 (GRCh38)
19:19113323 (GRCh37)
Canonical SPDI:: NC_000019.10:19002505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000019.10:19002505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:19002505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:19002505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:19002505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:19002505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:19002505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:19002505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:19002505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:19002505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:19002505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19002505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19002505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19002505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19002505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19002505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19002505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19002505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19002505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19002505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19002505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19002505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19002505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19002505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19002505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19002505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19002505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19002505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SUGP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.268171/1343 (1000Genomes)
HGVS:: NC_000019.10:g.19002514_19002530del, NC_000019.10:g.19002516_19002530del, NC_000019.10:g.19002517_19002530del, NC_000019.10:g.19002518_19002530del, NC_000019.10:g.19002519_19002530del, NC_000019.10:g.19002522_19002530del, NC_000019.10:g.19002523_19002530del, NC_000019.10:g.19002524_19002530del, NC_000019.10:g.19002525_19002530del, NC_000019.10:g.19002526_19002530del, NC_000019.10:g.19002527_19002530del, NC_000019.10:g.19002528_19002530del, NC_000019.10:g.19002529_19002530del, NC_000019.10:g.19002530del, NC_000019.10:g.19002530dup, NC_000019.10:g.19002529_19002530dup, NC_000019.10:g.19002528_19002530dup, NC_000019.10:g.19002527_19002530dup, NC_000019.10:g.19002526_19002530dup, NC_000019.10:g.19002525_19002530dup, NC_000019.10:g.19002524_19002530dup, NC_000019.10:g.19002523_19002530dup, NC_000019.10:g.19002522_19002530dup, NC_000019.10:g.19002520_19002530dup, NC_000019.10:g.19002517_19002530dup, NC_000019.10:g.19002515_19002530dup, NC_000019.10:g.19002508_19002530dup, NC_000019.10:g.19002530_19002531insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.19113323_19113339del, NC_000019.9:g.19113325_19113339del, NC_000019.9:g.19113326_19113339del, NC_000019.9:g.19113327_19113339del, NC_000019.9:g.19113328_19113339del, NC_000019.9:g.19113331_19113339del, NC_000019.9:g.19113332_19113339del, NC_000019.9:g.19113333_19113339del, NC_000019.9:g.19113334_19113339del, NC_000019.9:g.19113335_19113339del, NC_000019.9:g.19113336_19113339del, NC_000019.9:g.19113337_19113339del, NC_000019.9:g.19113338_19113339del, NC_000019.9:g.19113339del, NC_000019.9:g.19113339dup, NC_000019.9:g.19113338_19113339dup, NC_000019.9:g.19113337_19113339dup, NC_000019.9:g.19113336_19113339dup, NC_000019.9:g.19113335_19113339dup, NC_000019.9:g.19113334_19113339dup, NC_000019.9:g.19113333_19113339dup, NC_000019.9:g.19113332_19113339dup, NC_000019.9:g.19113331_19113339dup, NC_000019.9:g.19113329_19113339dup, NC_000019.9:g.19113326_19113339dup, NC_000019.9:g.19113324_19113339dup, NC_000019.9:g.19113317_19113339dup, NC_000019.9:g.19113339_19113340insTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14913297935.

rs1491329793 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 19:19024144 (GRCh38)
19:19134953 (GRCh37)
Canonical SPDI:: NC_000019.10:19024141:CTCT:CT
Gene:: SUGP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0.000142/2 (ALFA)
-=0.000029/4 (GnomAD)
-=0.000045/12 (TOPMED)
HGVS:: NC_000019.10:g.19024142CT[1], NC_000019.9:g.19134951CT[1]

Select item 14912942026.

rs1491294202 has merged into rs201253179 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT,GTGTGT [Show Flanks]
Chromosome:: 19:18998584 (GRCh38)
19:19109393 (GRCh37)
Canonical SPDI:: NC_000019.10:18998576:TGTGTGTGTGT:TGTGTGT,NC_000019.10:18998576:TGTGTGTGTGT:TGTGTGTGT,NC_000019.10:18998576:TGTGTGTGTGT:TGTGTGTGTGTGT
Gene:: SUGP2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGT=0./0 (ALFA)
TG=0.001/1 (GoNL)
-=0.00156/6 (ALSPAC)
-=0.00189/7 (TWINSUK)
TG=0.01749/88 (1000Genomes)
HGVS:: NC_000019.10:g.18998578GT[3], NC_000019.10:g.18998578GT[4], NC_000019.10:g.18998578GT[6], NC_000019.9:g.19109387GT[3], NC_000019.9:g.19109387GT[4], NC_000019.9:g.19109387GT[6]

Select item 14912045677.

rs1491204567 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTTTTGTTTTTTTT [Show Flanks]
Chromosome:: 19:19002506 (GRCh38)
19:19113316 (GRCh37)
Canonical SPDI:: NC_000019.10:19002506:TTTTTTTT:TTTTTTTTGTTTTTGTTTTTTTT
Gene:: SUGP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTTTGTTTTTGTTTTTTTT=0.00059/7 (ALFA)
HGVS:: NC_000019.10:g.19002507_19002514T[8]GTTTTT[2]TTT[1], NC_000019.9:g.19113316_19113323T[8]GTTTTT[2]TTT[1]

Select item 14911883388.

rs1491188338 has merged into rs3214142 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 19:19034038 (GRCh38)
19:19144847 (GRCh37)
Canonical SPDI:: NC_000019.10:19034030:AAAAAAAAAA:AAAAAAA,NC_000019.10:19034030:AAAAAAAAAA:AAAAAAAA,NC_000019.10:19034030:AAAAAAAAAA:AAAAAAAAA,NC_000019.10:19034030:AAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:19034030:AAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:19034030:AAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:19034030:AAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: SUGP2 (Varview), ARMC6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
AAAA=0.00011/29 (TOPMED)
A=0.085694/242 (1000Genomes)
-=0.437702/1623 (TWINSUK)
-=0.470161/1812 (ALSPAC)
-=0.489493/2143 (Estonian)
HGVS:: NC_000019.10:g.19034038_19034040del, NC_000019.10:g.19034039_19034040del, NC_000019.10:g.19034040del, NC_000019.10:g.19034040dup, NC_000019.10:g.19034039_19034040dup, NC_000019.10:g.19034038_19034040dup, NC_000019.10:g.19034037_19034040dup, NC_000019.9:g.19144847_19144849del, NC_000019.9:g.19144848_19144849del, NC_000019.9:g.19144849del, NC_000019.9:g.19144849dup, NC_000019.9:g.19144848_19144849dup, NC_000019.9:g.19144847_19144849dup, NC_000019.9:g.19144846_19144849dup, NR_147915.1:n.20_22del, NR_147915.1:n.21_22del, NR_147915.1:n.22del, NR_147915.1:n.22dup, NR_147915.1:n.21_22dup, NR_147915.1:n.20_22dup, NR_147915.1:n.19_22dup, NM_001352071.1:c.-283_-281del, NM_001352071.1:c.-282_-281del, NM_001352071.1:c.-281del, NM_001352071.1:c.-281dup, NM_001352071.1:c.-282_-281dup, NM_001352071.1:c.-283_-281dup, NM_001352071.1:c.-284_-281dup, NM_001321697.1:c.-283_-281del, NM_001321697.1:c.-282_-281del, NM_001321697.1:c.-281del, NM_001321697.1:c.-281dup, NM_001321697.1:c.-282_-281dup, NM_001321697.1:c.-283_-281dup, NM_001321697.1:c.-284_-281dup

Select item 14910565279.

rs1491056527 has merged into rs55923416 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:19018700 (GRCh38)
19:19129509 (GRCh37)
Canonical SPDI:: NC_000019.10:19018686:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:19018686:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:19018686:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:19018686:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:19018686:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:19018686:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:19018686:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:19018686:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:19018686:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:19018686:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:19018686:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:19018686:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:19018686:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:19018686:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SUGP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.19018700_19018708del, NC_000019.10:g.19018704_19018708del, NC_000019.10:g.19018705_19018708del, NC_000019.10:g.19018707_19018708del, NC_000019.10:g.19018708del, NC_000019.10:g.19018708dup, NC_000019.10:g.19018707_19018708dup, NC_000019.10:g.19018706_19018708dup, NC_000019.10:g.19018705_19018708dup, NC_000019.10:g.19018704_19018708dup, NC_000019.10:g.19018703_19018708dup, NC_000019.10:g.19018702_19018708dup, NC_000019.10:g.19018701_19018708dup, NC_000019.10:g.19018699_19018708dup, NC_000019.9:g.19129509_19129517del, NC_000019.9:g.19129513_19129517del, NC_000019.9:g.19129514_19129517del, NC_000019.9:g.19129516_19129517del, NC_000019.9:g.19129517del, NC_000019.9:g.19129517dup, NC_000019.9:g.19129516_19129517dup, NC_000019.9:g.19129515_19129517dup, NC_000019.9:g.19129514_19129517dup, NC_000019.9:g.19129513_19129517dup, NC_000019.9:g.19129512_19129517dup, NC_000019.9:g.19129511_19129517dup, NC_000019.9:g.19129510_19129517dup, NC_000019.9:g.19129508_19129517dup

Select item 149100688210.

rs1491006882 has merged into rs374873309 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:19031837 (GRCh38)
19:19142646 (GRCh37)
Canonical SPDI:: NC_000019.10:19031824:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:19031824:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:19031824:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:19031824:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:19031824:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:19031824:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:19031824:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:19031824:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:19031824:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19031824:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTT,NC_000019.10:19031824:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SUGP2 (Varview), ARMC6 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.3291/1648 (1000Genomes)
HGVS:: NC_000019.10:g.19031837_19031842del, NC_000019.10:g.19031838_19031842del, NC_000019.10:g.19031839_19031842del, NC_000019.10:g.19031840_19031842del, NC_000019.10:g.19031841_19031842del, NC_000019.10:g.19031842del, NC_000019.10:g.19031842dup, NC_000019.10:g.19031841_19031842dup, NC_000019.10:g.19031840_19031842dup, NC_000019.10:g.19031825_19031842T[26]ATTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.19031832_19031842dup, NC_000019.9:g.19142646_19142651del, NC_000019.9:g.19142647_19142651del, NC_000019.9:g.19142648_19142651del, NC_000019.9:g.19142649_19142651del, NC_000019.9:g.19142650_19142651del, NC_000019.9:g.19142651del, NC_000019.9:g.19142651dup, NC_000019.9:g.19142650_19142651dup, NC_000019.9:g.19142649_19142651dup, NC_000019.9:g.19142634_19142651T[26]ATTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.19142641_19142651dup

Select item 149094069611.

rs1490940696 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:19000749 (GRCh38)
19:19111558 (GRCh37)
Canonical SPDI:: NC_000019.10:19000748:C:T
Gene:: SUGP2 (Varview)
Functional Consequence:: genic_downstream_transcript_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.19000749C>T, NC_000019.9:g.19111558C>T

Select item 149087623812.

rs1490876238 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:19032410 (GRCh38)
19:19143219 (GRCh37)
Canonical SPDI:: NC_000019.10:19032409:C:A,NC_000019.10:19032409:C:T
Gene:: SUGP2 (Varview), ARMC6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.19032410C>A, NC_000019.10:g.19032410C>T, NC_000019.9:g.19143219C>A, NC_000019.9:g.19143219C>T

Select item 149086565913.

rs1490865659 [Homo sapiens]

Variant type:: DEL
Alleles:: CCC>- [Show Flanks]
Chromosome:: 19:19033673 (GRCh38)
19:19144482 (GRCh37)
Canonical SPDI:: NC_000019.10:19033672:CCC:
Gene:: SUGP2 (Varview), ARMC6 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0002/1 (ALFA)
-=0.0002/1 (Estonian)
HGVS:: NC_000019.10:g.19033673_19033675del, NC_000019.9:g.19144482_19144484del, NM_033415.4:c.-304_-302del, NM_033415.3:c.-304_-302del, XM_017027484.3:c.-304_-302del, XM_017027484.2:c.-304_-302del, XM_017027484.1:c.-304_-302del, NM_001199196.2:c.-337_-335del, NM_001199196.1:c.-337_-335del, XM_047439714.1:c.-420_-418del, XM_047439715.1:c.-304_-302del

Select item 149083719714.

rs1490837197 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:19009844 (GRCh38)
19:19120653 (GRCh37)
Canonical SPDI:: NC_000019.10:19009843:T:C,NC_000019.10:19009843:T:G
Gene:: SUGP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.19009844T>C, NC_000019.10:g.19009844T>G, NC_000019.9:g.19120653T>C, NC_000019.9:g.19120653T>G

Select item 149076224715.

rs1490762247 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:19019308 (GRCh38)
19:19130117 (GRCh37)
Canonical SPDI:: NC_000019.10:19019307:G:C
Gene:: SUGP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.19019308G>C, NC_000019.9:g.19130117G>C

Select item 149060132816.

rs1490601328 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:19020078 (GRCh38)
19:19130887 (GRCh37)
Canonical SPDI:: NC_000019.10:19020077:T:A
Gene:: SUGP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00295/35 (ALFA)
A=0.01062/31 (KOREAN)
HGVS:: NC_000019.10:g.19020078T>A, NC_000019.9:g.19130887T>A

Select item 149046697017.

rs1490466970 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:19005011 (GRCh38)
19:19115820 (GRCh37)
Canonical SPDI:: NC_000019.10:19005010:C:T
Gene:: SUGP2 (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.19005011C>T, NC_000019.9:g.19115820C>T

Select item 149041083418.

rs1490410834 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:19018132 (GRCh38)
19:19128941 (GRCh37)
Canonical SPDI:: NC_000019.10:19018131:T:C
Gene:: SUGP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000036/5 (GnomAD)
C=0.000068/18 (TOPMED)
HGVS:: NC_000019.10:g.19018132T>C, NC_000019.9:g.19128941T>C

Select item 149036791619.

rs1490367916 has merged into rs57972000 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AAA,AAAAA [Show Flanks]
Chromosome:: 19:19019775 (GRCh38)
19:19130584 (GRCh37)
Canonical SPDI:: NC_000019.10:19019768:AAAAAAAAAA:AAAAAA,NC_000019.10:19019768:AAAAAAAAAA:AAAAAAAAA,NC_000019.10:19019768:AAAAAAAAAA:AAAAAAAAAAA
Gene:: SUGP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
A=0.000223/1 (Estonian)
-=0.000743/12 (TOMMO)
-=0.004792/24 (1000Genomes)
-=0.013495/3572 (TOPMED)
HGVS:: NC_000019.10:g.19019775_19019778del, NC_000019.10:g.19019778del, NC_000019.10:g.19019778dup, NC_000019.9:g.19130584_19130587del, NC_000019.9:g.19130587del, NC_000019.9:g.19130587dup

Select item 149021389620.

rs1490213896 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:19011209 (GRCh38)
19:19122018 (GRCh37)
Canonical SPDI:: NC_000019.10:19011208:T:C
Gene:: SUGP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.19011209T>C, NC_000019.9:g.19122018T>C

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