SNP Links for Nucleotide (Select 217272809) - SNP

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Select item 14911181851.

rs1491118185 has merged into rs796098464 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:129533856 (GRCh38)
3:129252699 (GRCh37)
Canonical SPDI:: NC_000003.12:129533842:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:129533842:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:129533842:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:129533842:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:129533842:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:129533842:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RHO (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: benign,uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.175/7 (GENOME_DK)
-=0.48283/2418 (1000Genomes)
HGVS:: NC_000003.12:g.129533856_129533858del, NC_000003.12:g.129533857_129533858del, NC_000003.12:g.129533858del, NC_000003.12:g.129533858dup, NC_000003.12:g.129533857_129533858dup, NC_000003.12:g.129533850_129533858dup, NC_000003.11:g.129252699_129252701del, NC_000003.11:g.129252700_129252701del, NC_000003.11:g.129252701del, NC_000003.11:g.129252701dup, NC_000003.11:g.129252700_129252701dup, NC_000003.11:g.129252693_129252701dup, NG_009115.1:g.10218_10220del, NG_009115.1:g.10219_10220del, NG_009115.1:g.10220del, NG_009115.1:g.10220dup, NG_009115.1:g.10219_10220dup, NG_009115.1:g.10212_10220dup, NM_000539.3:c.*138_*140del, NM_000539.3:c.*139_*140del, NM_000539.3:c.*140del, NM_000539.3:c.*140dup, NM_000539.3:c.*139_*140dup, NM_000539.3:c.*132_*140dup

Select item 14908064462.

rs1490806446 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:129529618 (GRCh38)
3:129248461 (GRCh37)
Canonical SPDI:: NC_000003.12:129529617:G:A
Gene:: RHO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000003.12:g.129529618G>A, NC_000003.11:g.129248461G>A, NG_009115.1:g.5980G>A

Select item 14907588133.

rs1490758813 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:129529656 (GRCh38)
3:129248499 (GRCh37)
Canonical SPDI:: NC_000003.12:129529655:C:A,NC_000003.12:129529655:C:T
Gene:: RHO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.129529656C>A, NC_000003.12:g.129529656C>T, NC_000003.11:g.129248499C>A, NC_000003.11:g.129248499C>T, NG_009115.1:g.6018C>A, NG_009115.1:g.6018C>T

Select item 14906015394.

rs1490601539 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:129530640 (GRCh38)
3:129249483 (GRCh37)
Canonical SPDI:: NC_000003.12:129530639:G:A,NC_000003.12:129530639:G:C
Gene:: RHO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.129530640G>A, NC_000003.12:g.129530640G>C, NC_000003.11:g.129249483G>A, NC_000003.11:g.129249483G>C, NG_009115.1:g.7002G>A, NG_009115.1:g.7002G>C

Select item 14903720165.

rs1490372016 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:129535733 (GRCh38)
3:129254576 (GRCh37)
Canonical SPDI:: NC_000003.12:129535732:A:C
Gene:: RHO (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000461/8 (TOMMO)
HGVS:: NC_000003.12:g.129535733A>C, NC_000003.11:g.129254576A>C, NG_009115.1:g.12095A>C

Select item 14901024606.

rs1490102460 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:129528313 (GRCh38)
3:129247156 (GRCh37)
Canonical SPDI:: NC_000003.12:129528312:T:C
Gene:: RHO (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000003.12:g.129528313T>C, NC_000003.11:g.129247156T>C, NG_009115.1:g.4675T>C

Select item 14898824197.

rs1489882419 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:129535274 (GRCh38)
3:129254117 (GRCh37)
Canonical SPDI:: NC_000003.12:129535273:A:G
Gene:: RHO (Varview)
Functional Consequence:: 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_000003.12:g.129535274A>G, NC_000003.11:g.129254117A>G, NG_009115.1:g.11636A>G, NM_000539.3:c.*1556A>G

Select item 14898671958.

rs1489867195 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCT>- [Show Flanks]
Chromosome:: 3:129534233 (GRCh38)
3:129253076 (GRCh37)
Canonical SPDI:: NC_000003.12:129534230:CTCCT:CT
Gene:: RHO (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.129534233_129534235del, NC_000003.11:g.129253076_129253078del, NG_009115.1:g.10595_10597del, NM_000539.3:c.*515_*517del

Select item 14897747109.

rs1489774710 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:129529696 (GRCh38)
3:129248539 (GRCh37)
Canonical SPDI:: NC_000003.12:129529695:C:T
Gene:: RHO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000342/1 (KOREAN)
T=0.000425/7 (TOMMO)
T=0.001638/3 (Korea1K)
HGVS:: NC_000003.12:g.129529696C>T, NC_000003.11:g.129248539C>T, NG_009115.1:g.6058C>T

Select item 148943290310.

rs1489432903 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:129527837 (GRCh38)
3:129246680 (GRCh37)
Canonical SPDI:: NC_000003.12:129527836:C:G,NC_000003.12:129527836:C:T
Gene:: RHO (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.129527837C>G, NC_000003.12:g.129527837C>T, NC_000003.11:g.129246680C>G, NC_000003.11:g.129246680C>T, NG_009115.1:g.4199C>G, NG_009115.1:g.4199C>T

Select item 148943031011.

rs1489430310 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:129527004 (GRCh38)
3:129245847 (GRCh37)
Canonical SPDI:: NC_000003.12:129527003:G:A
Gene:: RHO (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.129527004G>A, NC_000003.11:g.129245847G>A, NG_009115.1:g.3366G>A

Select item 148941543512.

rs1489415435 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:129536355 (GRCh38)
3:129255198 (GRCh37)
Canonical SPDI:: NC_000003.12:129536354:C:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.129536355C>T, NC_000003.11:g.129255198C>T, NG_009115.1:g.12717C>T

Select item 148915533313.

rs1489155333 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 3:129527585 (GRCh38)
3:129246428 (GRCh37)
Canonical SPDI:: NC_000003.12:129527584:C:A,NC_000003.12:129527584:C:G
Gene:: RHO (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000003.12:g.129527585C>A, NC_000003.12:g.129527585C>G, NC_000003.11:g.129246428C>A, NC_000003.11:g.129246428C>G, NG_009115.1:g.3947C>A, NG_009115.1:g.3947C>G

Select item 148902246014.

rs1489022460 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:129534754 (GRCh38)
3:129253597 (GRCh37)
Canonical SPDI:: NC_000003.12:129534753:T:C
Gene:: RHO (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.129534754T>C, NC_000003.11:g.129253597T>C, NG_009115.1:g.11116T>C, NM_000539.3:c.*1036T>C

Select item 148889210515.

rs1488892105 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:129530946 (GRCh38)
3:129249789 (GRCh37)
Canonical SPDI:: NC_000003.12:129530945:C:T
Gene:: RHO (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000012/3 (GnomAD_exomes)
T=0.000038/10 (TOPMED)
T=0.00005/7 (GnomAD)
HGVS:: NC_000003.12:g.129530946C>T, NC_000003.11:g.129249789C>T, NG_009115.1:g.7308C>T, NM_000539.3:c.432C>T

Select item 148886316916.

rs1488863169 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:129526860 (GRCh38)
3:129245703 (GRCh37)
Canonical SPDI:: NC_000003.12:129526859:G:C
Gene:: RHO (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.129526860G>C, NC_000003.11:g.129245703G>C, NG_009115.1:g.3222G>C, NG_050698.1:g.231G>C

Select item 148883159717.

rs1488831597 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:129532693 (GRCh38)
3:129251536 (GRCh37)
Canonical SPDI:: NC_000003.12:129532692:T:C
Gene:: RHO (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.129532693T>C, NC_000003.11:g.129251536T>C, NG_009115.1:g.9055T>C, NM_000539.3:c.857T>C, NP_000530.1:p.Ile286Thr

Select item 148838366018.

rs1488383660 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:129526609 (GRCh38)
3:129245452 (GRCh37)
Canonical SPDI:: NC_000003.12:129526608:A:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.129526609A>G, NC_000003.11:g.129245452A>G, NG_009115.1:g.2971A>G

Select item 148810113119.

rs1488101131 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:129525514 (GRCh38)
3:129244357 (GRCh37)
Canonical SPDI:: NC_000003.12:129525513:C:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.129525514C>G, NC_000003.11:g.129244357C>G, NG_009115.1:g.1876C>G

Select item 148806705420.

rs1488067054 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:129529051 (GRCh38)
3:129247894 (GRCh37)
Canonical SPDI:: NC_000003.12:129529050:G:A,NC_000003.12:129529050:G:T
Gene:: RHO (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.129529051G>A, NC_000003.12:g.129529051G>T, NC_000003.11:g.129247894G>A, NC_000003.11:g.129247894G>T, NG_009115.1:g.5413G>A, NG_009115.1:g.5413G>T, NM_000539.3:c.318G>A, NM_000539.3:c.318G>T

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