SNP Links for Nucleotide (Select 362999015) - SNP

Links from Nucleotide

Items: 1 to 20 of 5463

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Select item 14914513541.

rs1491451354 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 10:88756991 (GRCh38)
10:90516748 (GRCh37)
Canonical SPDI:: NC_000010.11:88756990:GA:
Gene:: LIPN (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00004/2 (GnomAD)
HGVS:: NC_000010.11:g.88756991_88756992del, NC_000010.10:g.90516748_90516749del, NG_031911.1:g.586_587del

Select item 14913128932.

rs1491312893 has merged into rs35647140 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 10:88756999 (GRCh38)
10:90516756 (GRCh37)
Canonical SPDI:: NC_000010.11:88756991:AAAAAAAAA:AAAAAAA,NC_000010.11:88756991:AAAAAAAAA:AAAAAAAA,NC_000010.11:88756991:AAAAAAAAA:AAAAAAAAAA
Gene:: LIPN (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
A=0./0 (Vietnamese)
A=0.000035/1 (TOMMO)
A=0.001638/3 (Korea1K)
A=0.122804/615 (1000Genomes)
A=0.198912/52650 (TOPMED)
A=0.301667/181 (NorthernSweden)
A=0.302679/1356 (Estonian)
A=0.316633/316 (GoNL)
A=0.320119/1187 (TWINSUK)
A=0.329787/1271 (ALSPAC)
A=0.35/14 (GENOME_DK)
HGVS:: NC_000010.11:g.88756999_88757000del, NC_000010.11:g.88757000del, NC_000010.11:g.88757000dup, NC_000010.10:g.90516756_90516757del, NC_000010.10:g.90516757del, NC_000010.10:g.90516757dup, NG_031911.1:g.594_595del, NG_031911.1:g.595del, NG_031911.1:g.595dup

Select item 14910723373.

rs1491072337 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 10:88772869 (GRCh38)
10:90532626 (GRCh37)
Canonical SPDI:: NC_000010.11:88772867:AGA:A
Gene:: LIPN (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.002313/307 (GnomAD)
HGVS:: NC_000010.11:g.88772869_88772870del, NC_000010.10:g.90532626_90532627del, NG_031911.1:g.16464_16465del

Select item 14910698444.

rs1491069844 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 10:88761731 (GRCh38)
10:90521488 (GRCh37)
Canonical SPDI:: NC_000010.11:88761729:TCT:T
Gene:: LIPN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.00001/1 (GnomAD)
HGVS:: NC_000010.11:g.88761731_88761732del, NC_000010.10:g.90521488_90521489del, NG_031911.1:g.5326_5327del

Select item 14909906575.

rs1490990657 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:88767429 (GRCh38)
10:90527186 (GRCh37)
Canonical SPDI:: NC_000010.11:88767428:G:A
Gene:: LIPN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.88767429G>A, NC_000010.10:g.90527186G>A, NG_031911.1:g.11024G>A

Select item 14907817266.

rs1490781726 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:88774402 (GRCh38)
10:90534159 (GRCh37)
Canonical SPDI:: NC_000010.11:88774401:C:A
Gene:: LIPN (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.88774402C>A, NC_000010.10:g.90534159C>A, NG_031911.1:g.17997C>A

Select item 14907051917.

rs1490705191 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:88760612 (GRCh38)
10:90520369 (GRCh37)
Canonical SPDI:: NC_000010.11:88760611:C:A
Gene:: LIPN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.88760612C>A, NC_000010.10:g.90520369C>A, NG_031911.1:g.4207C>A

Select item 14906899498.

rs1490689949 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:88759345 (GRCh38)
10:90519102 (GRCh37)
Canonical SPDI:: NC_000010.11:88759344:T:C
Gene:: LIPN (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.88759345T>C, NC_000010.10:g.90519102T>C, NG_031911.1:g.2940T>C

Select item 14905410559.

rs1490541055 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:88759330 (GRCh38)
10:90519087 (GRCh37)
Canonical SPDI:: NC_000010.11:88759329:A:C
Gene:: LIPN (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.88759330A>C, NC_000010.10:g.90519087A>C, NG_031911.1:g.2925A>C

Select item 149051566110.

rs1490515661 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:88756575 (GRCh38)
10:90516332 (GRCh37)
Canonical SPDI:: NC_000010.11:88756574:G:C
Gene:: LIPN (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.88756575G>C, NC_000010.10:g.90516332G>C, NG_031911.1:g.170G>C

Select item 149050134011.

rs1490501340 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:88777871 (GRCh38)
10:90537628 (GRCh37)
Canonical SPDI:: NC_000010.11:88777870:G:A,NC_000010.11:88777870:G:C
Gene:: LIPN (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.88777871G>A, NC_000010.11:g.88777871G>C, NC_000010.10:g.90537628G>A, NC_000010.10:g.90537628G>C, NG_031911.1:g.21466G>A, NG_031911.1:g.21466G>C

Select item 149044003312.

rs1490440033 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:88765853 (GRCh38)
10:90525610 (GRCh37)
Canonical SPDI:: NC_000010.11:88765852:G:A
Gene:: LIPN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.88765853G>A, NC_000010.10:g.90525610G>A, NG_031911.1:g.9448G>A

Select item 149001203713.

rs1490012037 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:88779068 (GRCh38)
10:90538825 (GRCh37)
Canonical SPDI:: NC_000010.11:88779067:T:A
Gene:: LIPN (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.88779068T>A, NC_000010.10:g.90538825T>A, NG_031911.1:g.22663T>A, NM_001102469.2:c.*826T>A, XM_005270049.4:c.*826T>A, XM_005270049.3:c.*826T>A, XM_011540084.3:c.*826T>A, XM_011540084.2:c.*826T>A, XM_047425642.1:c.*826T>A, XM_047425643.1:c.*826T>A, XM_047425644.1:c.*826T>A

Select item 148934595814.

rs1489345958 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:88765391 (GRCh38)
10:90525148 (GRCh37)
Canonical SPDI:: NC_000010.11:88765390:T:C
Gene:: LIPN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.88765391T>C, NC_000010.10:g.90525148T>C, NG_031911.1:g.8986T>C

Select item 148900892115.

rs1489008921 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:88770594 (GRCh38)
10:90530351 (GRCh37)
Canonical SPDI:: NC_000010.11:88770593:G:A
Gene:: LIPN (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.88770594G>A, NC_000010.10:g.90530351G>A, NG_031911.1:g.14189G>A, XM_017016549.2:c.*978G>A, XM_017016549.1:c.*978G>A

Select item 148874070616.

rs1488740706 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:88778080 (GRCh38)
10:90537837 (GRCh37)
Canonical SPDI:: NC_000010.11:88778079:C:G,NC_000010.11:88778079:C:T
Gene:: LIPN (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.88778080C>G, NC_000010.11:g.88778080C>T, NC_000010.10:g.90537837C>G, NC_000010.10:g.90537837C>T, NG_031911.1:g.21675C>G, NG_031911.1:g.21675C>T, NM_001102469.2:c.1035C>G, NM_001102469.2:c.1035C>T, NM_001102469.1:c.1035C>G, NM_001102469.1:c.1035C>T, XM_005270049.4:c.1035C>G, XM_005270049.4:c.1035C>T, XM_005270049.3:c.1035C>G, XM_005270049.3:c.1035C>T, XM_005270049.2:c.1035C>G, XM_005270049.2:c.1035C>T, XM_005270049.1:c.1035C>G, XM_005270049.1:c.1035C>T, XM_011540084.3:c.1035C>G, XM_011540084.3:c.1035C>T, XM_011540084.2:c.1035C>G, XM_011540084.2:c.1035C>T, XM_011540084.1:c.1035C>G, XM_011540084.1:c.1035C>T, XM_047425642.1:c.1035C>G, XM_047425642.1:c.1035C>T, XM_047425643.1:c.963C>G, XM_047425643.1:c.963C>T, XM_047425644.1:c.891C>G, XM_047425644.1:c.891C>T

Select item 148868114717.

rs1488681147 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATT>- [Show Flanks]
Chromosome:: 10:88756762 (GRCh38)
10:90516519 (GRCh37)
Canonical SPDI:: NC_000010.11:88756754:TATTATTATT:TATTATT
Gene:: LIPN (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATTATT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.88756756ATT[2], NC_000010.10:g.90516513ATT[2], NG_031911.1:g.351ATT[2]

Select item 148862852318.

rs1488628523 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:88763962 (GRCh38)
10:90523719 (GRCh37)
Canonical SPDI:: NC_000010.11:88763961:C:A
Gene:: LIPN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000010.11:g.88763962C>A, NC_000010.10:g.90523719C>A, NG_031911.1:g.7557C>A

Select item 148838242319.

rs1488382423 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:88757104 (GRCh38)
10:90516861 (GRCh37)
Canonical SPDI:: NC_000010.11:88757103:T:C
Gene:: LIPN (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.88757104T>C, NC_000010.10:g.90516861T>C, NG_031911.1:g.699T>C

Select item 148835670120.

rs1488356701 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:88780237 (GRCh38)
10:90539994 (GRCh37)
Canonical SPDI:: NC_000010.11:88780236:T:C
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.88780237T>C, NC_000010.10:g.90539994T>C, NG_031911.1:g.23832T>C

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