SNP Links for Gene (Select 400966) - SNP

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Select item 14915805731.

rs1491580573 has merged into rs560720648 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 2:86939588 (GRCh38)
2:87166711 (GRCh37)
Canonical SPDI:: NC_000002.12:86939578:AAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:86939578:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:86939578:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:86939578:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:86939578:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:86939578:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:86939578:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:86939578:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:86939578:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:86939578:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: RGPD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.01997/100 (1000Genomes)
HGVS:: NC_000002.12:g.86939588_86939593del, NC_000002.12:g.86939589_86939593del, NC_000002.12:g.86939590_86939593del, NC_000002.12:g.86939591_86939593del, NC_000002.12:g.86939592_86939593del, NC_000002.12:g.86939593del, NC_000002.12:g.86939593dup, NC_000002.12:g.86939592_86939593dup, NC_000002.12:g.86939591_86939593dup, NC_000002.12:g.86939590_86939593dup, NC_000002.11:g.87166711_87166716del, NC_000002.11:g.87166712_87166716del, NC_000002.11:g.87166713_87166716del, NC_000002.11:g.87166714_87166716del, NC_000002.11:g.87166715_87166716del, NC_000002.11:g.87166716del, NC_000002.11:g.87166716dup, NC_000002.11:g.87166715_87166716dup, NC_000002.11:g.87166714_87166716dup, NC_000002.11:g.87166713_87166716dup

Select item 14915541252.

rs1491554125 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:86962507 (GRCh38)
2:87189630 (GRCh37)
Canonical SPDI:: NC_000002.12:86962506:CA:
Gene:: RGPD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00003/1 (GnomAD)
HGVS:: NC_000002.12:g.86962507_86962508del, NC_000002.11:g.87189630_87189631del

Select item 14915482043.

rs1491548204 [Homo sapiens]

Variant type:: SNV:
Alleles:: AT>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14915465004.

rs1491546500 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:86939593 (GRCh38)
2:87166717 (GRCh37)
Canonical SPDI:: NC_000002.12:86939593:G:GG
Gene:: RGPD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000029/3 (GnomAD)
HGVS:: NC_000002.12:g.86939594dup, NC_000002.11:g.87166717dup

Select item 14915457825.

rs1491545782 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGCCGC,GGCGGCGGCCGC [Show Flanks]
Chromosome:: 2:86914571 (GRCh38)
2:87141695 (GRCh37)
Canonical SPDI:: NC_000002.12:86914571:GC:GCGGCCGC,NC_000002.12:86914571:GC:GCGGCGGCGGCCGC
Gene:: RGPD1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GCGGCGGCGGCCGC=0./0 (ALFA)
HGVS:: NC_000002.12:g.86914573_86914574insGGCCGC, NC_000002.12:g.86914572_86914573GCG[3]GCCGC[1], NC_000002.11:g.87141696_87141697insGGCCGC, NC_000002.11:g.87141695_87141696GCG[3]GCCGC[1]

Select item 14915277686.

rs1491527768 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:86939578 (GRCh38)
2:87166701 (GRCh37)
Canonical SPDI:: NC_000002.12:86939577:CA:
Gene:: RGPD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000002.12:g.86939578_86939579del, NC_000002.11:g.87166701_87166702del

Select item 14915147997.

rs1491514799 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 2:86914643 (GRCh38)
2:87141766 (GRCh37)
Canonical SPDI:: NC_000002.12:86914642:CG:
Gene:: RGPD1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.86914643_86914644del, NC_000002.11:g.87141766_87141767del

Select item 14914684438.

rs1491468443 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:86943189 (GRCh38)
2:87170313 (GRCh37)
Canonical SPDI:: NC_000002.12:86943189:GGGG:GGGGG
Gene:: RGPD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.86943193dup, NC_000002.11:g.87170316dup

Select item 14914533009.

rs1491453300 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 2:86914571 (GRCh38)
2:87141694 (GRCh37)
Canonical SPDI:: NC_000002.12:86914570:GG:
Gene:: RGPD1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.86914571_86914572del, NC_000002.11:g.87141694_87141695del

Select item 149143428510.

rs1491434285 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGG [Show Flanks]
Chromosome:: 2:86914643 (GRCh38)
2:87141767 (GRCh37)
Canonical SPDI:: NC_000002.12:86914643:GGG:GGGGGG
Gene:: RGPD1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GGGGGG=0./0 (ALFA)
HGVS:: NC_000002.12:g.86914644_86914646dup, NC_000002.11:g.87141767_87141769dup

Select item 149142113811.

rs1491421138 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 2:86918454 (GRCh38)
2:87145578 (GRCh37)
Canonical SPDI:: NC_000002.12:86918454:T:TAT
Gene:: RGPD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TAT=0./0 (ALFA)
TA=0.00011/4 (GnomAD)
HGVS:: NC_000002.12:g.86918455_86918456insAT, NC_000002.11:g.87145578_87145579insAT

Select item 149138531612.

rs1491385316 has merged into rs61486857 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:86962521 (GRCh38)
2:87189644 (GRCh37)
Canonical SPDI:: NC_000002.12:86962507:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:86962507:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:86962507:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:86962507:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:86962507:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:86962507:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:86962507:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:86962507:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86962507:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86962507:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86962507:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86962507:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86962507:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86962507:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86962507:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:86962507:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RGPD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.86962521_86962533del, NC_000002.12:g.86962523_86962533del, NC_000002.12:g.86962524_86962533del, NC_000002.12:g.86962525_86962533del, NC_000002.12:g.86962526_86962533del, NC_000002.12:g.86962527_86962533del, NC_000002.12:g.86962528_86962533del, NC_000002.12:g.86962529_86962533del, NC_000002.12:g.86962530_86962533del, NC_000002.12:g.86962531_86962533del, NC_000002.12:g.86962532_86962533del, NC_000002.12:g.86962533del, NC_000002.12:g.86962533dup, NC_000002.12:g.86962532_86962533dup, NC_000002.12:g.86962530_86962533dup, NC_000002.12:g.86962529_86962533dup, NC_000002.11:g.87189644_87189656del, NC_000002.11:g.87189646_87189656del, NC_000002.11:g.87189647_87189656del, NC_000002.11:g.87189648_87189656del, NC_000002.11:g.87189649_87189656del, NC_000002.11:g.87189650_87189656del, NC_000002.11:g.87189651_87189656del, NC_000002.11:g.87189652_87189656del, NC_000002.11:g.87189653_87189656del, NC_000002.11:g.87189654_87189656del, NC_000002.11:g.87189655_87189656del, NC_000002.11:g.87189656del, NC_000002.11:g.87189656dup, NC_000002.11:g.87189655_87189656dup, NC_000002.11:g.87189653_87189656dup, NC_000002.11:g.87189652_87189656dup

Select item 149128348113.

rs1491283481 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:86951870 (GRCh38)
2:87178994 (GRCh37)
Canonical SPDI:: NC_000002.12:86951870:GGG:GGGG
Gene:: RGPD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0./0 (ALFA)
G=0.0001/3 (GnomAD)
G=0.00177/23 (TOMMO)
G=0.00188/3 (Korea1K)
HGVS:: NC_000002.12:g.86951873dup, NC_000002.11:g.87178996dup

Select item 149127579714.

rs1491275797 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:86929716 (GRCh38)
2:87156839 (GRCh37)
Canonical SPDI:: NC_000002.12:86929715:TA:
Gene:: RGPD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.004552/54 (ALFA)
-=0.004787/526 (GnomAD)
HGVS:: NC_000002.12:g.86929716_86929717del, NC_000002.11:g.87156839_87156840del, NG_023579.4:g.1293_1294del

Select item 149126899615.

rs1491268996 has merged into rs1204179315 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 2:86936021 (GRCh38)
2:87163144 (GRCh37)
Canonical SPDI:: NC_000002.12:86936010:TTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:86936010:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:86936010:TTTTTTTTTTTT:TTTTTTTTTTTTT
Gene:: RGPD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0.00068/8 (ALFA)
HGVS:: NC_000002.12:g.86936021_86936022del, NC_000002.12:g.86936022del, NC_000002.12:g.86936022dup, NC_000002.11:g.87163144_87163145del, NC_000002.11:g.87163145del, NC_000002.11:g.87163145dup

Select item 149126655216.

rs1491266552 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 2:86951870 (GRCh38)
2:87178993 (GRCh37)
Canonical SPDI:: NC_000002.12:86951869:AG:
Gene:: RGPD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.86951870_86951871del, NC_000002.11:g.87178993_87178994del

Select item 149125212117.

rs1491252121 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:87013427 (GRCh38)
2:87240551 (GRCh37)
Canonical SPDI:: NC_000002.12:87013427:GGGGGG:GGGGGGG
Gene:: PLGLB1 (Varview), RGPD1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.87013433dup, NC_000002.11:g.87240556dup, XM_011532845.4:c.*886dup, NM_001024457.4:c.*886dup, NM_001024457.3:c.*886dup, XM_047444327.1:c.*886dup, NM_001410915.1:c.*886dup, NM_001382344.1:c.*886dup

Select item 149123867518.

rs1491238675 has merged into rs1160123598 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:86918465 (GRCh38)
2:87145588 (GRCh37)
Canonical SPDI:: NC_000002.12:86918453:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:86918453:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:86918453:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:86918453:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:86918453:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:86918453:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:86918453:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:86918453:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:86918453:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:86918453:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:86918453:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:86918453:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:86918453:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:86918453:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:86918453:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:86918453:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:86918453:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:86918453:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:86918453:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:86918453:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:86918453:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:86918453:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:86918453:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RGPD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.000072/19 (TOPMED)
HGVS:: NC_000002.12:g.86918465_86918477del, NC_000002.12:g.86918466_86918477del, NC_000002.12:g.86918467_86918477del, NC_000002.12:g.86918468_86918477del, NC_000002.12:g.86918469_86918477del, NC_000002.12:g.86918470_86918477del, NC_000002.12:g.86918471_86918477del, NC_000002.12:g.86918472_86918477del, NC_000002.12:g.86918473_86918477del, NC_000002.12:g.86918474_86918477del, NC_000002.12:g.86918475_86918477del, NC_000002.12:g.86918476_86918477del, NC_000002.12:g.86918477del, NC_000002.12:g.86918477dup, NC_000002.12:g.86918476_86918477dup, NC_000002.12:g.86918475_86918477dup, NC_000002.12:g.86918474_86918477dup, NC_000002.12:g.86918473_86918477dup, NC_000002.12:g.86918472_86918477dup, NC_000002.12:g.86918471_86918477dup, NC_000002.12:g.86918470_86918477dup, NC_000002.12:g.86918477_86918478insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.86918477_86918478insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.87145588_87145600del, NC_000002.11:g.87145589_87145600del, NC_000002.11:g.87145590_87145600del, NC_000002.11:g.87145591_87145600del, NC_000002.11:g.87145592_87145600del, NC_000002.11:g.87145593_87145600del, NC_000002.11:g.87145594_87145600del, NC_000002.11:g.87145595_87145600del, NC_000002.11:g.87145596_87145600del, NC_000002.11:g.87145597_87145600del, NC_000002.11:g.87145598_87145600del, NC_000002.11:g.87145599_87145600del, NC_000002.11:g.87145600del, NC_000002.11:g.87145600dup, NC_000002.11:g.87145599_87145600dup, NC_000002.11:g.87145598_87145600dup, NC_000002.11:g.87145597_87145600dup, NC_000002.11:g.87145596_87145600dup, NC_000002.11:g.87145595_87145600dup, NC_000002.11:g.87145594_87145600dup, NC_000002.11:g.87145593_87145600dup, NC_000002.11:g.87145600_87145601insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.87145600_87145601insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149120090819.

rs1491200908 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:86929716 (GRCh38)
2:87156840 (GRCh37)
Canonical SPDI:: NC_000002.12:86929716:A:AA
Gene:: RGPD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000048/5 (GnomAD)
HGVS:: NC_000002.12:g.86929717dup, NC_000002.11:g.87156840dup, NG_023579.4:g.1293dup

Select item 149100321320.

rs1491003213 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:86920427 (GRCh38)
2:87147550 (GRCh37)
Canonical SPDI:: NC_000002.12:86920426:C:T
Gene:: RGPD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.86920427C>T, NC_000002.11:g.87147550C>T

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