SNP Links for Nucleotide (Select 212549720) - SNP

Links from Nucleotide

Items: 1 to 20 of 3884

<< First< Prev

Page of 195

Next >Last >>

Select item 14915006611.

rs1491500661 has merged into rs1007691150 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:67478499 (GRCh38)
11:67245970 (GRCh37)
Canonical SPDI:: NC_000011.10:67478489:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000011.10:67478489:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:67478489:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:67478489:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:67478489:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:67478489:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:67478489:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:67478489:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:67478489:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:67478489:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:67478489:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:67478489:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:67478489:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:67478489:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000011.10:g.67478499_67478512del, NC_000011.10:g.67478503_67478512del, NC_000011.10:g.67478505_67478512del, NC_000011.10:g.67478506_67478512del, NC_000011.10:g.67478508_67478512del, NC_000011.10:g.67478509_67478512del, NC_000011.10:g.67478510_67478512del, NC_000011.10:g.67478511_67478512del, NC_000011.10:g.67478512del, NC_000011.10:g.67478512dup, NC_000011.10:g.67478511_67478512dup, NC_000011.10:g.67478510_67478512dup, NC_000011.10:g.67478509_67478512dup, NC_000011.10:g.67478507_67478512dup, NC_000011.9:g.67245970_67245983del, NC_000011.9:g.67245974_67245983del, NC_000011.9:g.67245976_67245983del, NC_000011.9:g.67245977_67245983del, NC_000011.9:g.67245979_67245983del, NC_000011.9:g.67245980_67245983del, NC_000011.9:g.67245981_67245983del, NC_000011.9:g.67245982_67245983del, NC_000011.9:g.67245983del, NC_000011.9:g.67245983dup, NC_000011.9:g.67245982_67245983dup, NC_000011.9:g.67245981_67245983dup, NC_000011.9:g.67245980_67245983dup, NC_000011.9:g.67245978_67245983dup, NG_008969.1:g.466_479del, NG_008969.1:g.470_479del, NG_008969.1:g.472_479del, NG_008969.1:g.473_479del, NG_008969.1:g.475_479del, NG_008969.1:g.476_479del, NG_008969.1:g.477_479del, NG_008969.1:g.478_479del, NG_008969.1:g.479del, NG_008969.1:g.479dup, NG_008969.1:g.478_479dup, NG_008969.1:g.477_479dup, NG_008969.1:g.476_479dup, NG_008969.1:g.474_479dup

Select item 14915000482.

rs1491500048 has merged into rs1452514681 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 11:67481220 (GRCh38)
11:67248691 (GRCh37)
Canonical SPDI:: NC_000011.10:67481206:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:67481206:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:67481206:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:67481206:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: AIP (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000011.10:g.67481220_67481221del, NC_000011.10:g.67481221del, NC_000011.10:g.67481221dup, NC_000011.10:g.67481220_67481221dup, NC_000011.9:g.67248691_67248692del, NC_000011.9:g.67248692del, NC_000011.9:g.67248692dup, NC_000011.9:g.67248691_67248692dup, NG_008969.1:g.3187_3188del, NG_008969.1:g.3188del, NG_008969.1:g.3188dup, NG_008969.1:g.3187_3188dup

Select item 14913656683.

rs1491365668 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:67478489 (GRCh38)
11:67245960 (GRCh37)
Canonical SPDI:: NC_000011.10:67478488:CA:
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000011.10:g.67478489_67478490del, NC_000011.9:g.67245960_67245961del, NG_008969.1:g.456_457del

Select item 14907851144.

rs1490785114 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 11:67493094 (GRCh38)
11:67260565 (GRCh37)
Canonical SPDI:: NC_000011.10:67493093:GGGG:GGG
Gene:: PITPNM1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.67493097del, NC_000011.9:g.67260568del, NG_008969.1:g.15064del

Select item 14907422515.

rs1490742251 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:67478940 (GRCh38)
11:67246411 (GRCh37)
Canonical SPDI:: NC_000011.10:67478939:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.67478940G>A, NC_000011.9:g.67246411G>A, NG_008969.1:g.907G>A

Select item 14906776616.

rs1490677661 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:67492580 (GRCh38)
11:67260051 (GRCh37)
Canonical SPDI:: NC_000011.10:67492579:G:A
Gene:: PITPNM1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.67492580G>A, NC_000011.9:g.67260051G>A, NG_008969.1:g.14547G>A

Select item 14906354837.

rs1490635483 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:67478474 (GRCh38)
11:67245945 (GRCh37)
Canonical SPDI:: NC_000011.10:67478473:A:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/1 (GnomAD)
HGVS:: NC_000011.10:g.67478474A>G, NC_000011.9:g.67245945A>G, NG_008969.1:g.441A>G

Select item 14904917458.

rs1490491745 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:67478720 (GRCh38)
11:67246191 (GRCh37)
Canonical SPDI:: NC_000011.10:67478719:G:A
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000022/3 (GnomAD)
HGVS:: NC_000011.10:g.67478720G>A, NC_000011.9:g.67246191G>A, NG_008969.1:g.687G>A

Select item 14904563489.

rs1490456348 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:67486426 (GRCh38)
11:67253897 (GRCh37)
Canonical SPDI:: NC_000011.10:67486425:G:T
Gene:: AIP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.67486426G>T, NC_000011.9:g.67253897G>T, NG_008969.1:g.8393G>T

Select item 149034676110.

rs1490346761 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:67481244 (GRCh38)
11:67248715 (GRCh37)
Canonical SPDI:: NC_000011.10:67481243:C:T
Gene:: AIP (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000072/10 (GnomAD)
HGVS:: NC_000011.10:g.67481244C>T, NC_000011.9:g.67248715C>T, NG_008969.1:g.3211C>T

Select item 149025616111.

rs1490256161 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:67491487 (GRCh38)
11:67258958 (GRCh37)
Canonical SPDI:: NC_000011.10:67491486:G:T
Gene:: AIP (Varview), PITPNM1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000011.10:g.67491487G>T, NC_000011.9:g.67258958G>T, NG_008969.1:g.13454G>T

Select item 148995331312.

rs1489953313 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:67490594 (GRCh38)
11:67258065 (GRCh37)
Canonical SPDI:: NC_000011.10:67490593:A:G
Gene:: AIP (Varview), MIR6752 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
HGVS:: NC_000011.10:g.67490594A>G, NC_000011.9:g.67258065A>G, NG_008969.1:g.12561A>G

Select item 148973902613.

rs1489739026 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:67493105 (GRCh38)
11:67260576 (GRCh37)
Canonical SPDI:: NC_000011.10:67493104:G:C
Gene:: PITPNM1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.67493105G>C, NC_000011.9:g.67260576G>C, NG_008969.1:g.15072G>C

Select item 148955308514.

rs1489553085 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:67487081 (GRCh38)
11:67254552 (GRCh37)
Canonical SPDI:: NC_000011.10:67487080:C:T
Gene:: AIP (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.67487081C>T, NC_000011.9:g.67254552C>T, NG_008969.1:g.9048C>T, NM_003977.4:c.175C>T, NM_003977.3:c.175C>T, NM_003977.2:c.175C>T, NM_001302960.2:c.175C>T, NM_001302960.1:c.175C>T, NM_001302959.2:c.-3C>T, NM_001302959.1:c.-3C>T, NP_003968.3:p.Pro59Ser, NP_001289889.1:p.Pro59Ser

Select item 148945414115.

rs1489454141 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:67489997 (GRCh38)
11:67257468 (GRCh37)
Canonical SPDI:: NC_000011.10:67489996:G:A
Gene:: AIP (Varview), MIR6752 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000011.10:g.67489997G>A, NC_000011.9:g.67257468G>A, NG_008969.1:g.11964G>A

Select item 148925537916.

rs1489255379 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:67486334 (GRCh38)
11:67253805 (GRCh37)
Canonical SPDI:: NC_000011.10:67486333:C:A
Gene:: AIP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000106/2 (TOMMO)
A=0.000546/1 (Korea1K)
A=0.00137/4 (KOREAN)
HGVS:: NC_000011.10:g.67486334C>A, NC_000011.9:g.67253805C>A, NG_008969.1:g.8301C>A

Select item 148915039317.

rs1489150393 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:67479801 (GRCh38)
11:67247272 (GRCh37)
Canonical SPDI:: NC_000011.10:67479800:T:A
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.67479801T>A, NC_000011.9:g.67247272T>A, NG_008969.1:g.1768T>A

Select item 148914546818.

rs1489145468 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:67489321 (GRCh38)
11:67256792 (GRCh37)
Canonical SPDI:: NC_000011.10:67489320:A:G
Gene:: AIP (Varview), MIR6752 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.67489321A>G, NC_000011.9:g.67256792A>G, NG_008969.1:g.11288A>G, NM_003977.4:c.334A>G, NM_003977.3:c.334A>G, NM_003977.2:c.334A>G, NM_001302960.2:c.334A>G, NM_001302960.1:c.334A>G, NM_001302959.2:c.157A>G, NM_001302959.1:c.157A>G, NP_003968.3:p.Lys112Glu, NP_001289889.1:p.Lys112Glu, NP_001289888.1:p.Lys53Glu

Select item 148887614419.

rs1488876144 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:67480262 (GRCh38)
11:67247733 (GRCh37)
Canonical SPDI:: NC_000011.10:67480261:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.67480262G>A, NC_000011.9:g.67247733G>A, NG_008969.1:g.2229G>A

Select item 148857304120.

rs1488573041 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:67489412 (GRCh38)
11:67256883 (GRCh37)
Canonical SPDI:: NC_000011.10:67489411:A:G
Gene:: AIP (Varview), MIR6752 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.67489412A>G, NC_000011.9:g.67256883A>G, NG_008969.1:g.11379A>G, NM_003977.4:c.425A>G, NM_003977.3:c.425A>G, NM_003977.2:c.425A>G, NM_001302960.2:c.425A>G, NM_001302960.1:c.425A>G, NM_001302959.2:c.248A>G, NM_001302959.1:c.248A>G, NP_003968.3:p.Gln142Arg, NP_001289889.1:p.Gln142Arg, NP_001289888.1:p.Gln83Arg

<< First< Prev

Page of 195

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Nucleotide

Items: 1 to 20 of 3884

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity