SNP Links for Nucleotide (Select 1050193341) - SNP

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Select item 14912916491.

rs1491291649 has merged into rs147536336 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 11:74492917 (GRCh38)
11:74203962 (GRCh37)
Canonical SPDI:: NC_000011.10:74492903:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:74492903:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:74492903:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:74492903:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:74492903:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:74492903:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:74492903:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:74492903:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:74492903:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:74492903:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: LIPT2 (Varview), LIPT2-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.488/2444 (1000Genomes)
HGVS:: NC_000011.10:g.74492917_74492923del, NC_000011.10:g.74492918_74492923del, NC_000011.10:g.74492919_74492923del, NC_000011.10:g.74492920_74492923del, NC_000011.10:g.74492921_74492923del, NC_000011.10:g.74492922_74492923del, NC_000011.10:g.74492923del, NC_000011.10:g.74492923dup, NC_000011.10:g.74492922_74492923dup, NC_000011.10:g.74492921_74492923dup, NC_000011.9:g.74203962_74203968del, NC_000011.9:g.74203963_74203968del, NC_000011.9:g.74203964_74203968del, NC_000011.9:g.74203965_74203968del, NC_000011.9:g.74203966_74203968del, NC_000011.9:g.74203967_74203968del, NC_000011.9:g.74203968del, NC_000011.9:g.74203968dup, NC_000011.9:g.74203967_74203968dup, NC_000011.9:g.74203966_74203968dup, NG_051333.1:g.5804_5810del, NG_051333.1:g.5805_5810del, NG_051333.1:g.5806_5810del, NG_051333.1:g.5807_5810del, NG_051333.1:g.5808_5810del, NG_051333.1:g.5809_5810del, NG_051333.1:g.5810del, NG_051333.1:g.5810dup, NG_051333.1:g.5809_5810dup, NG_051333.1:g.5808_5810dup

Select item 14910829532.

rs1491082953 [Homo sapiens]

Variant type:: SNV:
Alleles:: CT>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14905508903.

rs1490550890 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 11:74496779 (GRCh38)
11:74207824 (GRCh37)
Canonical SPDI:: NC_000011.10:74496778:G:A,NC_000011.10:74496778:G:C,NC_000011.10:74496778:G:T
Gene:: LIPT2-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.74496779G>A, NC_000011.10:g.74496779G>C, NC_000011.10:g.74496779G>T, NC_000011.9:g.74207824G>A, NC_000011.9:g.74207824G>C, NC_000011.9:g.74207824G>T, NG_051333.1:g.1935C>T, NG_051333.1:g.1935C>G, NG_051333.1:g.1935C>A, NM_001319240.2:c.-127G>A, NM_001319240.2:c.-127G>C, NM_001319240.2:c.-127G>T, NR_171028.1:n.725G>A, NR_171028.1:n.725G>C, NR_171028.1:n.725G>T, NM_001319240.1:c.-127G>A, NM_001319240.1:c.-127G>C, NM_001319240.1:c.-127G>T, NM_198519.1:c.-409G>A, NM_198519.1:c.-409G>C, NM_198519.1:c.-409G>T

Select item 14904789954.

rs1490478995 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:74488930 (GRCh38)
11:74199975 (GRCh37)
Canonical SPDI:: NC_000011.10:74488929:A:G
Gene:: LOC107984356 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000011.10:g.74488930A>G, NC_000011.9:g.74199975A>G, NG_051333.1:g.9784T>C

Select item 14903713755.

rs1490371375 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 11:74497348 (GRCh38)
11:74208394 (GRCh37)
Canonical SPDI:: NC_000011.10:74497348:T:TT
Gene:: LIPT2-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
HGVS:: NC_000011.10:g.74497349dup, NC_000011.9:g.74208394dup, NG_051333.1:g.1365dup, NM_001319240.2:c.444dup, NR_171028.1:n.1295dup, NM_001319240.1:c.444dup, NM_198519.1:c.162dup

Select item 14903564176.

rs1490356417 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:74493451 (GRCh38)
11:74204496 (GRCh37)
Canonical SPDI:: NC_000011.10:74493450:G:A
Gene:: LIPT2 (Varview), LIPT2-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.74493451G>A, NC_000011.9:g.74204496G>A, NG_051333.1:g.5263C>T, NM_001144869.3:c.253C>T, NM_001144869.2:c.253C>T, NM_001144869.1:c.253C>T, NM_001329941.2:c.253C>T, NM_001329941.1:c.253C>T, NM_001319240.2:c.-780G>A, NR_171028.1:n.72G>A, NM_001319240.1:c.-780G>A, NM_198519.1:c.-1062G>A, NP_001138341.1:p.Arg85Cys, NP_001316870.1:p.Arg85Cys

Select item 14903298657.

rs1490329865 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:74489533 (GRCh38)
11:74200578 (GRCh37)
Canonical SPDI:: NC_000011.10:74489532:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00034/1 (KOREAN)
C=0.00467/1 (Vietnamese)
HGVS:: NC_000011.10:g.74489533T>C, NC_000011.9:g.74200578T>C, NG_051333.1:g.9181A>G

Select item 14900312418.

rs1490031241 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:74497283 (GRCh38)
11:74208328 (GRCh37)
Canonical SPDI:: NC_000011.10:74497282:A:T
Gene:: LIPT2-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.74497283A>T, NC_000011.9:g.74208328A>T, NG_051333.1:g.1431T>A, NM_001319240.2:c.378A>T, NR_171028.1:n.1229A>T, NM_001319240.1:c.378A>T, NM_198519.1:c.96A>T

Select item 14896583469.

rs1489658346 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:74494402 (GRCh38)
11:74205447 (GRCh37)
Canonical SPDI:: NC_000011.10:74494401:T:C
Gene:: LIPT2 (Varview), LIPT2-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/1 (GnomAD)
C=0.000251/4 (TOMMO)
HGVS:: NC_000011.10:g.74494402T>C, NC_000011.9:g.74205447T>C, NG_051333.1:g.4312A>G

Select item 148959086010.

rs1489590860 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:74491854 (GRCh38)
11:74202899 (GRCh37)
Canonical SPDI:: NC_000011.10:74491853:C:G
Gene:: LIPT2 (Varview), LIPT2-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_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_000011.10:g.74491854C>G, NC_000011.9:g.74202899C>G, NG_051333.1:g.6860G>C, NM_001144869.3:c.*281G>C, NM_001144869.2:c.*281G>C, NM_001329941.2:c.*391G>C, NM_001329941.1:c.*391G>C, NM_001329942.2:c.*391G>C, NM_001329942.1:c.*391G>C

Select item 148937612911.

rs1489376129 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 11:74493219 (GRCh38)
11:74204264 (GRCh37)
Canonical SPDI:: NC_000011.10:74493218:C:A,NC_000011.10:74493218:C:G
Gene:: LIPT2 (Varview), LIPT2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.74493219C>A, NC_000011.10:g.74493219C>G, NC_000011.9:g.74204264C>A, NC_000011.9:g.74204264C>G, NG_051333.1:g.5495G>T, NG_051333.1:g.5495G>C, NM_001329941.2:c.485G>T, NM_001329941.2:c.485G>C, NM_001329941.1:c.485G>T, NM_001329941.1:c.485G>C, NP_001316870.1:p.Gly162Val, NP_001316870.1:p.Gly162Ala

Select item 148846806212.

rs1488468062 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:74494210 (GRCh38)
11:74205255 (GRCh37)
Canonical SPDI:: NC_000011.10:74494209:T:C
Gene:: LIPT2 (Varview), LIPT2-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.74494210T>C, NC_000011.9:g.74205255T>C, NG_051333.1:g.4504A>G

Select item 148802787713.

rs1488027877 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:74497502 (GRCh38)
11:74208547 (GRCh37)
Canonical SPDI:: NC_000011.10:74497501:T:C
Gene:: LIPT2-AS1 (Varview)
Functional Consequence:: non_coding_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_000011.10:g.74497502T>C, NC_000011.9:g.74208547T>C, NG_051333.1:g.1212A>G, NM_001319240.2:c.597T>C, NR_171028.1:n.1448T>C, NM_001319240.1:c.597T>C, NM_198519.1:c.315T>C

Select item 148795755314.

rs1487957553 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:74491248 (GRCh38)
11:74202293 (GRCh37)
Canonical SPDI:: NC_000011.10:74491247:C:G
Gene:: LIPT2 (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_000011.10:g.74491248C>G, NC_000011.9:g.74202293C>G, NG_051333.1:g.7466G>C, NM_001144869.3:c.*887G>C, NM_001144869.2:c.*887G>C, NM_001329941.2:c.*997G>C, NM_001329941.1:c.*997G>C, NM_001329942.2:c.*997G>C, NM_001329942.1:c.*997G>C

Select item 148773868715.

rs1487738687 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 11:74497472 (GRCh38)
11:74208517 (GRCh37)
Canonical SPDI:: NC_000011.10:74497471:TG:
Gene:: LIPT2-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0528/236 (ALFA)
-=0.00099/17 (TOMMO)
-=0.0529/237 (Estonian)
HGVS:: NC_000011.10:g.74497472_74497473del, NC_000011.9:g.74208517_74208518del, NG_051333.1:g.1241_1242del, NM_001319240.2:c.567_568del, NR_171028.1:n.1418_1419del, NM_001319240.1:c.567_568del, NM_198519.1:c.285_286del

Select item 148756713716.

rs1487567137 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:74489388 (GRCh38)
11:74200433 (GRCh37)
Canonical SPDI:: NC_000011.10:74489387:T:C
Gene:: LOC107984356 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000011.10:g.74489388T>C, NC_000011.9:g.74200433T>C, NG_051333.1:g.9326A>G

Select item 148742578417.

rs1487425784 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 11:74497274 (GRCh38)
11:74208319 (GRCh37)
Canonical SPDI:: NC_000011.10:74497273:T:A,NC_000011.10:74497273:T:C
Gene:: LIPT2-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000016/2 (GnomAD)
A=0.096851/283 (KOREAN)
T=0.5/30 (SGDP_PRJ)
HGVS:: NC_000011.10:g.74497274T>A, NC_000011.10:g.74497274T>C, NC_000011.9:g.74208319T>A, NC_000011.9:g.74208319T>C, NG_051333.1:g.1440A>T, NG_051333.1:g.1440A>G, NM_001319240.2:c.369T>A, NM_001319240.2:c.369T>C, NR_171028.1:n.1220T>A, NR_171028.1:n.1220T>C, NM_001319240.1:c.369T>A, NM_001319240.1:c.369T>C, NM_198519.1:c.87T>A, NM_198519.1:c.87T>C

Select item 148725183618.

rs1487251836 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:74496320 (GRCh38)
11:74207365 (GRCh37)
Canonical SPDI:: NC_000011.10:74496319:C:G
Gene:: LIPT2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/1 (GnomAD)
HGVS:: NC_000011.10:g.74496320C>G, NC_000011.9:g.74207365C>G, NG_051333.1:g.2394G>C

Select item 148691943519.

rs1486919435 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:74493360 (GRCh38)
11:74204405 (GRCh37)
Canonical SPDI:: NC_000011.10:74493359:T:G
Gene:: LIPT2 (Varview), LIPT2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.74493360T>G, NC_000011.9:g.74204405T>G, NG_051333.1:g.5354A>C, NM_001144869.3:c.344A>C, NM_001144869.2:c.344A>C, NM_001144869.1:c.344A>C, NM_001329941.2:c.344A>C, NM_001329941.1:c.344A>C, NP_001138341.1:p.His115Pro, NP_001316870.1:p.His115Pro

Select item 148653930920.

rs1486539309 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:74493625 (GRCh38)
11:74204670 (GRCh37)
Canonical SPDI:: NC_000011.10:74493624:G:A,NC_000011.10:74493624:G:C
Gene:: LIPT2 (Varview), LIPT2-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,synonymous_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_000011.10:g.74493625G>A, NC_000011.10:g.74493625G>C, NC_000011.9:g.74204670G>A, NC_000011.9:g.74204670G>C, NG_051333.1:g.5089C>T, NG_051333.1:g.5089C>G, NM_001144869.3:c.79C>T, NM_001144869.3:c.79C>G, NM_001144869.2:c.79C>T, NM_001144869.2:c.79C>G, NM_001144869.1:c.79C>T, NM_001144869.1:c.79C>G, NM_001329941.2:c.79C>T, NM_001329941.2:c.79C>G, NM_001329941.1:c.79C>T, NM_001329941.1:c.79C>G, NM_001329942.2:c.79C>T, NM_001329942.2:c.79C>G, NM_001329942.1:c.79C>T, NM_001329942.1:c.79C>G, NM_001319240.2:c.-606G>A, NM_001319240.2:c.-606G>C, NR_171028.1:n.246G>A, NR_171028.1:n.246G>C, NM_001319240.1:c.-606G>A, NM_001319240.1:c.-606G>C, NM_198519.1:c.-888G>A, NM_198519.1:c.-888G>C, NP_001138341.1:p.Leu27Val, NP_001316870.1:p.Leu27Val, NP_001316871.1:p.Leu27Val

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