SNP Links for Nucleotide (Select 169808383) - 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 14898824192.

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 14898671953.

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 14890224604.

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 14888921055.

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 14888315976.

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 14880670547.

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

Select item 14880457168.

rs1488045716 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:129532347 (GRCh38)
3:129251190 (GRCh37)
Canonical SPDI:: NC_000003.12:129532346:G:T
Gene:: RHO (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.129532347G>T, NC_000003.11:g.129251190G>T, NG_009115.1:g.8709G>T, NM_000539.3:c.627G>T

Select item 14874593589.

rs1487459358 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:129534003 (GRCh38)
3:129252846 (GRCh37)
Canonical SPDI:: NC_000003.12:129534002:G:A
Gene:: RHO (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000026/7 (TOPMED)
A=0.00005/7 (GnomAD)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000003.12:g.129534003G>A, NC_000003.11:g.129252846G>A, NG_009115.1:g.10365G>A, NM_000539.3:c.*285G>A

Select item 148659465710.

rs1486594657 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:129533700 (GRCh38)
3:129252543 (GRCh37)
Canonical SPDI:: NC_000003.12:129533699:C:G
Gene:: RHO (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.129533700C>G, NC_000003.11:g.129252543C>G, NG_009115.1:g.10062C>G, NM_000539.3:c.1029C>G, NP_000530.1:p.Ser343Arg

Select item 148070434211.

rs1480704342 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:129534735 (GRCh38)
3:129253578 (GRCh37)
Canonical SPDI:: NC_000003.12:129534734:C:T
Gene:: RHO (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.129534735C>T, NC_000003.11:g.129253578C>T, NG_009115.1:g.11097C>T, NM_000539.3:c.*1017C>T

Select item 147972685412.

rs1479726854 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:129534313 (GRCh38)
3:129253156 (GRCh37)
Canonical SPDI:: NC_000003.12:129534312:A:G
Gene:: RHO (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000003.12:g.129534313A>G, NC_000003.11:g.129253156A>G, NG_009115.1:g.10675A>G, NM_000539.3:c.*595A>G

Select item 147927111613.

rs1479271116 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:129535259 (GRCh38)
3:129254102 (GRCh37)
Canonical SPDI:: NC_000003.12:129535258:G:A
Gene:: RHO (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.129535259G>A, NC_000003.11:g.129254102G>A, NG_009115.1:g.11621G>A, NM_000539.3:c.*1541G>A

Select item 147825019214.

rs1478250192 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:129532608 (GRCh38)
3:129251451 (GRCh37)
Canonical SPDI:: NC_000003.12:129532607:G:A
Gene:: RHO (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.129532608G>A, NC_000003.11:g.129251451G>A, NG_009115.1:g.8970G>A, NM_000539.3:c.772G>A, NP_000530.1:p.Val258Ile

Select item 147824806415.

rs1478248064 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 3:129528967 (GRCh38)
3:129247810 (GRCh37)
Canonical SPDI:: NC_000003.12:129528966:CC:C
Gene:: RHO (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0.000071/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.129528968del, NC_000003.11:g.129247811del, NG_009115.1:g.5330del, NM_000539.3:c.235del, NP_000530.1:p.Asn78_Leu79insTer

Select item 147653154016.

rs1476531540 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:129529090 (GRCh38)
3:129247933 (GRCh37)
Canonical SPDI:: NC_000003.12:129529089:G:A
Gene:: RHO (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.129529090G>A, NC_000003.11:g.129247933G>A, NG_009115.1:g.5452G>A, NM_000539.3:c.357G>A

Select item 147617983817.

rs1476179838 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 3:129533652 (GRCh38)
3:129252495 (GRCh37)
Canonical SPDI:: NC_000003.12:129533651:A:C,NC_000003.12:129533651:A:T
Gene:: RHO (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.00002/5 (GnomAD_exomes)
T=0.000036/5 (GnomAD)
HGVS:: NC_000003.12:g.129533652A>C, NC_000003.12:g.129533652A>T, NC_000003.11:g.129252495A>C, NC_000003.11:g.129252495A>T, NG_009115.1:g.10014A>C, NG_009115.1:g.10014A>T, NM_000539.3:c.981A>C, NM_000539.3:c.981A>T

Select item 147454007718.

rs1474540077 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:129534477 (GRCh38)
3:129253320 (GRCh37)
Canonical SPDI:: NC_000003.12:129534476:T:C
Gene:: RHO (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.129534477T>C, NC_000003.11:g.129253320T>C, NG_009115.1:g.10839T>C, NM_000539.3:c.*759T>C

Select item 147426543819.

rs1474265438 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 3:129535340 (GRCh38)
3:129254183 (GRCh37)
Canonical SPDI:: NC_000003.12:129535339:CCCC:CCC
Gene:: RHO (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0.000071/1 (ALFA)
-=0.000032/3 (GnomAD)
-=0.000034/9 (TOPMED)
HGVS:: NC_000003.12:g.129535343del, NC_000003.11:g.129254186del, NG_009115.1:g.11705del, NM_000539.3:c.*1625del

Select item 147418198320.

rs1474181983 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:129534946 (GRCh38)
3:129253789 (GRCh37)
Canonical SPDI:: NC_000003.12:129534945:C:T
Gene:: RHO (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000003.12:g.129534946C>T, NC_000003.11:g.129253789C>T, NG_009115.1:g.11308C>T, NM_000539.3:c.*1228C>T

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