SNP Links for Gene (Select 340745) - SNP

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Links from Gene

Items: 1 to 20 of 2026

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Select item 14909918131.

rs1490991813 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:84226609 (GRCh38)
10:85986365 (GRCh37)
Canonical SPDI:: NC_000010.11:84226608:G:C
Gene:: LRIT2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000010.11:g.84226609G>C, NC_000010.10:g.85986365G>C

Select item 14905860472.

rs1490586047 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 10:84224732 (GRCh38)
10:85984488 (GRCh37)
Canonical SPDI:: NC_000010.11:84224731:C:A,NC_000010.11:84224731:C:G,NC_000010.11:84224731:C:T
Gene:: LRIT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000223/1 (Estonian)
HGVS:: NC_000010.11:g.84224732C>A, NC_000010.11:g.84224732C>G, NC_000010.11:g.84224732C>T, NC_000010.10:g.85984488C>A, NC_000010.10:g.85984488C>G, NC_000010.10:g.85984488C>T, NM_001017924.5:c.493G>T, NM_001017924.5:c.493G>C, NM_001017924.5:c.493G>A, NM_001017924.4:c.493G>T, NM_001017924.4:c.493G>C, NM_001017924.4:c.493G>A, NM_001017924.3:c.493G>T, NM_001017924.3:c.493G>C, NM_001017924.3:c.493G>A, NM_001017924.2:c.493G>T, NM_001017924.2:c.493G>C, NM_001017924.2:c.493G>A, NM_001284223.1:c.493G>T, NM_001284223.1:c.493G>C, NM_001284223.1:c.493G>A, NP_001017924.1:p.Val165Phe, NP_001017924.1:p.Val165Leu, NP_001017924.1:p.Val165Ile, NP_001271152.1:p.Val165Phe, NP_001271152.1:p.Val165Leu, NP_001271152.1:p.Val165Ile

Select item 14902151413.

rs1490215141 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:84225453 (GRCh38)
10:85985209 (GRCh37)
Canonical SPDI:: NC_000010.11:84225452:A:C
Gene:: LRIT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.84225453A>C, NC_000010.10:g.85985209A>C, NM_001017924.5:c.68T>G, NM_001017924.4:c.68T>G, NM_001017924.3:c.68T>G, NM_001017924.2:c.68T>G, NM_001284223.1:c.68T>G, NP_001017924.1:p.Phe23Cys, NP_001271152.1:p.Phe23Cys

Select item 14901626634.

rs1490162663 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:84226670 (GRCh38)
10:85986426 (GRCh37)
Canonical SPDI:: NC_000010.11:84226669:A:G
Gene:: LRIT2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.0002/1 (ALFA)
G=0.0002/1 (Estonian)
HGVS:: NC_000010.11:g.84226670A>G, NC_000010.10:g.85986426A>G

Select item 14894322865.

rs1489432286 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:84221205 (GRCh38)
10:85980961 (GRCh37)
Canonical SPDI:: NC_000010.11:84221204:T:A
Gene:: LRIT2 (Varview)
Functional Consequence:: 3_prime_UTR_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.84221205T>A, NC_000010.10:g.85980961T>A, NG_028034.1:g.31550T>A, NM_001017924.5:c.*715A>T, NM_001017924.4:c.*715A>T, NM_001017924.3:c.*715A>T, NM_001017924.2:c.*715A>T, NM_001284223.1:c.*715A>T

Select item 14873330016.

rs1487333001 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:84227573 (GRCh38)
10:85987329 (GRCh37)
Canonical SPDI:: NC_000010.11:84227572:T:A
Gene:: LRIT2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.84227573T>A, NC_000010.10:g.85987329T>A

Select item 14872328307.

rs1487232830 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 10:84220886 (GRCh38)
10:85980642 (GRCh37)
Canonical SPDI:: NC_000010.11:84220885:TT:
Gene:: LRIT2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.84220886_84220887del, NC_000010.10:g.85980642_85980643del, NG_028034.1:g.31231_31232del, NM_001017924.5:c.*1033_*1034del, NM_001017924.4:c.*1033_*1034del, NM_001017924.3:c.*1033_*1034del, NM_001017924.2:c.*1033_*1034del, NM_001284223.1:c.*1033_*1034del

Select item 14866378048.

rs1486637804 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:84220333 (GRCh38)
10:85980089 (GRCh37)
Canonical SPDI:: NC_000010.11:84220332:A:G
Gene:: LRIT2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000010.11:g.84220333A>G, NC_000010.10:g.85980089A>G, NG_028034.1:g.30678A>G

Select item 14864322329.

rs1486432232 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:84223420 (GRCh38)
10:85983176 (GRCh37)
Canonical SPDI:: NC_000010.11:84223419:T:C
Gene:: LRIT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.84223420T>C, NC_000010.10:g.85983176T>C

Select item 148532629210.

rs1485326292 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:84221751 (GRCh38)
10:85981507 (GRCh37)
Canonical SPDI:: NC_000010.11:84221750:T:C
Gene:: LRIT2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.84221751T>C, NC_000010.10:g.85981507T>C, NM_001017924.5:c.*169A>G, NM_001017924.4:c.*169A>G, NM_001017924.3:c.*169A>G, NM_001017924.2:c.*169A>G, NM_001284223.1:c.*169A>G

Select item 148484836611.

rs1484848366 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:84222043 (GRCh38)
10:85981799 (GRCh37)
Canonical SPDI:: NC_000010.11:84222042:G:A
Gene:: LRIT2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.84222043G>A, NC_000010.10:g.85981799G>A, NM_001017924.5:c.1530C>T, NM_001017924.4:c.1530C>T, NM_001017924.3:c.1530C>T, NM_001017924.2:c.1530C>T, NM_001284223.1:c.1560C>T

Select item 148477852212.

rs1484778522 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:84224064 (GRCh38)
10:85983820 (GRCh37)
Canonical SPDI:: NC_000010.11:84224063:A:G
Gene:: LRIT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.84224064A>G, NC_000010.10:g.85983820A>G

Select item 148392238113.

rs1483922381 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:84224335 (GRCh38)
10:85984091 (GRCh37)
Canonical SPDI:: NC_000010.11:84224334:T:C
Gene:: LRIT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.84224335T>C, NC_000010.10:g.85984091T>C, NM_001017924.5:c.890A>G, NM_001017924.4:c.890A>G, NM_001017924.3:c.890A>G, NM_001017924.2:c.890A>G, NM_001284223.1:c.890A>G, NP_001017924.1:p.Asp297Gly, NP_001271152.1:p.Asp297Gly

Select item 148367901714.

rs1483679017 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:84225604 (GRCh38)
10:85985360 (GRCh37)
Canonical SPDI:: NC_000010.11:84225603:A:G
Gene:: LRIT2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.84225604A>G, NC_000010.10:g.85985360A>G

Select item 148330530515.

rs1483305305 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:84223729 (GRCh38)
10:85983485 (GRCh37)
Canonical SPDI:: NC_000010.11:84223728:A:C
Gene:: LRIT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.84223729A>C, NC_000010.10:g.85983485A>C

Select item 148306644416.

rs1483066444 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:84226520 (GRCh38)
10:85986276 (GRCh37)
Canonical SPDI:: NC_000010.11:84226519:G:C
Gene:: LRIT2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000010.11:g.84226520G>C, NC_000010.10:g.85986276G>C

Select item 148238931317.

rs1482389313 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:84224706 (GRCh38)
10:85984462 (GRCh37)
Canonical SPDI:: NC_000010.11:84224705:G:T
Gene:: LRIT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.84224706G>T, NC_000010.10:g.85984462G>T, NM_001017924.5:c.519C>A, NM_001017924.4:c.519C>A, NM_001017924.3:c.519C>A, NM_001017924.2:c.519C>A, NM_001284223.1:c.519C>A, NP_001017924.1:p.Asn173Lys, NP_001271152.1:p.Asn173Lys

Select item 148227069118.

rs1482270691 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:84222616 (GRCh38)
10:85982372 (GRCh37)
Canonical SPDI:: NC_000010.11:84222615:C:A,NC_000010.11:84222615:C:T
Gene:: LRIT2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
T=0.000546/1 (Korea1K)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000010.11:g.84222616C>A, NC_000010.11:g.84222616C>T, NC_000010.10:g.85982372C>A, NC_000010.10:g.85982372C>T, NM_001017924.5:c.957G>T, NM_001017924.5:c.957G>A, NM_001017924.4:c.957G>T, NM_001017924.4:c.957G>A, NM_001017924.3:c.957G>T, NM_001017924.3:c.957G>A, NM_001017924.2:c.957G>T, NM_001017924.2:c.957G>A, NM_001284223.1:c.987G>T, NM_001284223.1:c.987G>A

Select item 148197249519.

rs1481972495 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:84221482 (GRCh38)
10:85981238 (GRCh37)
Canonical SPDI:: NC_000010.11:84221481:T:C
Gene:: LRIT2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.84221482T>C, NC_000010.10:g.85981238T>C, NG_028034.1:g.31827T>C, NM_001017924.5:c.*438A>G, NM_001017924.4:c.*438A>G, NM_001017924.3:c.*438A>G, NM_001017924.2:c.*438A>G, NM_001284223.1:c.*438A>G

Select item 148163757520.

rs1481637575 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:84226715 (GRCh38)
10:85986471 (GRCh37)
Canonical SPDI:: NC_000010.11:84226714:T:C
Gene:: LRIT2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.84226715T>C, NC_000010.10:g.85986471T>C

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