SNP Links for Nucleotide (Select 678246479) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Nucleotide

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14915819601.

rs1491581960 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTC [Show Flanks]
Chromosome:: 20:38353507 (GRCh38)
20:36981908 (GRCh37)
Canonical SPDI:: NC_000020.11:38353507::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTC
Gene:: LBP (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000020.11:g.38353507_38353508insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTC, NC_000020.10:g.36981907_36981908insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTC, NG_034239.1:g.12097_12098insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTC

Select item 14914950882.

rs1491495088 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 20:38365746 (GRCh38)
20:36994390 (GRCh37)
Canonical SPDI:: NC_000020.11:38365744:TTT:T
Gene:: LBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000038/5 (GnomAD)
HGVS:: NC_000020.11:g.38365746_38365747del, NC_000020.10:g.36994390_36994391del, NG_034239.1:g.24336_24337del

Select item 14913847153.

rs1491384715 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGTTT,TGTTTTGTTT,TGTTTTGTTTTGTTT [Show Flanks]
Chromosome:: 20:38348777 (GRCh38)
20:36977181 (GRCh37)
Canonical SPDI:: NC_000020.11:38348777:GTTT:GTTTTGTTT,NC_000020.11:38348777:GTTT:GTTTTGTTTTGTTT,NC_000020.11:38348777:GTTT:GTTTTGTTTTGTTTTGTTT
Gene:: LBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTTTTGTTTTGTTT=0./0 (ALFA)
GTTTTGTTTTGTTTT=0.000004/1 (TOPMED)
GTTTT=0.000106/2 (TOMMO)
HGVS:: NC_000020.11:g.38348781_38348782insTGTTT, NC_000020.11:g.38348781_38348782insTGTTTTGTTT, NC_000020.11:g.38348782TGTTT[3], NC_000020.10:g.36977184_36977185insTGTTT, NC_000020.10:g.36977184_36977185insTGTTTTGTTT, NC_000020.10:g.36977185TGTTT[3], NG_034239.1:g.7371_7372insTGTTT, NG_034239.1:g.7371_7372insTGTTTTGTTT, NG_034239.1:g.7372TGTTT[3]

Select item 14913591094.

rs1491359109 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 20:38353507 (GRCh38)
20:36981907 (GRCh37)
Canonical SPDI:: NC_000020.11:38353506:TG:
Gene:: LBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.00007/4 (GnomAD)
-=0.00011/3 (TOMMO)
HGVS:: NC_000020.11:g.38353507_38353508del, NC_000020.10:g.36981907_36981908del, NG_034239.1:g.12097_12098del

Select item 14912704695.

rs1491270469 has merged into rs11478545 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:38360270 (GRCh38)
20:36988924 (GRCh37)
Canonical SPDI:: NC_000020.11:38360259:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:38360259:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:38360259:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:38360259:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:38360259:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:38360259:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:38360259:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:38360259:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: LBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.3513/189 (NorthernSweden)
HGVS:: NC_000020.11:g.38360270_38360274del, NC_000020.11:g.38360272_38360274del, NC_000020.11:g.38360273_38360274del, NC_000020.11:g.38360274del, NC_000020.11:g.38360274dup, NC_000020.11:g.38360273_38360274dup, NC_000020.11:g.38360272_38360274dup, NC_000020.11:g.38360268_38360274dup, NC_000020.10:g.36988924_36988928del, NC_000020.10:g.36988926_36988928del, NC_000020.10:g.36988927_36988928del, NC_000020.10:g.36988928del, NC_000020.10:g.36988928dup, NC_000020.10:g.36988927_36988928dup, NC_000020.10:g.36988926_36988928dup, NC_000020.10:g.36988922_36988928dup, NG_034239.1:g.18860_18864del, NG_034239.1:g.18862_18864del, NG_034239.1:g.18863_18864del, NG_034239.1:g.18864del, NG_034239.1:g.18864dup, NG_034239.1:g.18863_18864dup, NG_034239.1:g.18862_18864dup, NG_034239.1:g.18858_18864dup

Select item 14911921026.

rs1491192102 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 20:38348777 (GRCh38)
20:36977180 (GRCh37)
Canonical SPDI:: NC_000020.11:38348776:AG:
Gene:: LBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000071/2 (TOMMO)
-=0.000513/62 (GnomAD)
HGVS:: NC_000020.11:g.38348777_38348778del, NC_000020.10:g.36977180_36977181del, NG_034239.1:g.7367_7368del

Select item 14911754717.

rs1491175471 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:38360259 (GRCh38)
20:36988913 (GRCh37)
Canonical SPDI:: NC_000020.11:38360258:CA:
Gene:: LBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000020.11:g.38360259_38360260del, NC_000020.10:g.36988913_36988914del, NG_034239.1:g.18849_18850del

Select item 14911037378.

rs1491103737 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 20:38365745 (GRCh38)
20:36994390 (GRCh37)
Canonical SPDI:: NC_000020.11:38365745::A
Gene:: LBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.00004/1 (TOMMO)
HGVS:: NC_000020.11:g.38365745_38365746insA, NC_000020.10:g.36994389_36994390insA, NG_034239.1:g.24335_24336insA

Select item 14910307689.

rs1491030768 has merged into rs540710354 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:38361181 (GRCh38)
20:36989835 (GRCh37)
Canonical SPDI:: NC_000020.11:38361168:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:38361168:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:38361168:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:38361168:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:38361168:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:38361168:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:38361168:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.01342/8 (NorthernSweden)
-=0.07522/366 (1000Genomes)
HGVS:: NC_000020.11:g.38361181_38361183del, NC_000020.11:g.38361182_38361183del, NC_000020.11:g.38361183del, NC_000020.11:g.38361183dup, NC_000020.11:g.38361182_38361183dup, NC_000020.11:g.38361181_38361183dup, NC_000020.11:g.38361175_38361183dup, NC_000020.10:g.36989835_36989837del, NC_000020.10:g.36989836_36989837del, NC_000020.10:g.36989837del, NC_000020.10:g.36989837dup, NC_000020.10:g.36989836_36989837dup, NC_000020.10:g.36989835_36989837dup, NC_000020.10:g.36989829_36989837dup, NG_034239.1:g.19771_19773del, NG_034239.1:g.19772_19773del, NG_034239.1:g.19773del, NG_034239.1:g.19773dup, NG_034239.1:g.19772_19773dup, NG_034239.1:g.19771_19773dup, NG_034239.1:g.19765_19773dup

Select item 149101548810.

rs1491015488 has merged into rs1480203171 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 20:38378958 (GRCh38)
20:37007599 (GRCh37)
Canonical SPDI:: NC_000020.11:38378957:T:
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
HGVS:: NC_000020.11:g.38378958del, NC_000020.10:g.37007599del, NG_034239.1:g.37548del

Select item 149100855211.

rs1491008552 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 20:38348751 (GRCh38)
20:36977154 (GRCh37)
Canonical SPDI:: NC_000020.11:38348750:TA:
Gene:: LBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.38348751_38348752del, NC_000020.10:g.36977154_36977155del, NG_034239.1:g.7341_7342del

Select item 149091257512.

rs1490912575 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:38354348 (GRCh38)
20:36982748 (GRCh37)
Canonical SPDI:: NC_000020.11:38354347:G:A
Gene:: LBP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.38354348G>A, NC_000020.10:g.36982748G>A, NG_034239.1:g.12938G>A, NM_004139.5:c.433G>A, NM_004139.4:c.433G>A, NM_004139.3:c.433G>A, NP_004130.2:p.Gly145Ser

Select item 149090295413.

rs1490902954 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:38346441 (GRCh38)
20:36974844 (GRCh37)
Canonical SPDI:: NC_000020.11:38346440:G:A
Gene:: LBP (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000020.11:g.38346441G>A, NC_000020.10:g.36974844G>A, NG_034239.1:g.5031G>A, NM_004139.4:c.-76G>A, NM_004139.3:c.-76G>A

Select item 149087750814.

rs1490877508 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:38375613 (GRCh38)
20:37004255 (GRCh37)
Canonical SPDI:: NC_000020.11:38375612:T:G
Gene:: LBP (Varview)
Functional Consequence:: intron_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_000020.11:g.38375613T>G, NC_000020.10:g.37004255T>G, NG_034239.1:g.34203T>G

Select item 149075987315.

rs1490759873 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:38354968 (GRCh38)
20:36983368 (GRCh37)
Canonical SPDI:: NC_000020.11:38354967:G:C
Gene:: LBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.38354968G>C, NC_000020.10:g.36983368G>C, NG_034239.1:g.13558G>C

Select item 149050847716.

rs1490508477 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:38355394 (GRCh38)
20:36983794 (GRCh37)
Canonical SPDI:: NC_000020.11:38355393:A:G
Gene:: LBP (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000056/2 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.38355394A>G, NC_000020.10:g.36983794A>G, NG_034239.1:g.13984A>G, NM_004139.5:c.573A>G, NM_004139.4:c.573A>G, NM_004139.3:c.573A>G

Select item 149050009117.

rs1490500091 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:38360996 (GRCh38)
20:36989650 (GRCh37)
Canonical SPDI:: NC_000020.11:38360995:C:A
Gene:: LBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.38360996C>A, NC_000020.10:g.36989650C>A, NG_034239.1:g.19586C>A

Select item 149041896218.

rs1490418962 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:38366683 (GRCh38)
20:36995327 (GRCh37)
Canonical SPDI:: NC_000020.11:38366682:G:T
Gene:: LBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.38366683G>T, NC_000020.10:g.36995327G>T, NG_034239.1:g.25273G>T

Select item 149038585419.

rs1490385854 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:38346992 (GRCh38)
20:36975395 (GRCh37)
Canonical SPDI:: NC_000020.11:38346991:G:T
Gene:: LBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.38346992G>T, NC_000020.10:g.36975395G>T, NG_034239.1:g.5582G>T

Select item 149036180720.

rs1490361807 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:38361934 (GRCh38)
20:36990588 (GRCh37)
Canonical SPDI:: NC_000020.11:38361933:T:A
Gene:: LBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.38361934T>A, NC_000020.10:g.36990588T>A, NG_034239.1:g.20524T>A