SNP Links for Gene (Select 157638) - SNP

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Select item 14907991321.

rs1490799132 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:126557459 (GRCh38)
8:127569704 (GRCh37)
Canonical SPDI:: NC_000008.11:126557458:A:G
Gene:: LRATD2 (Varview), LOC105375751 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.126557459A>G, NC_000008.10:g.127569704A>G, NM_174911.5:c.-70T>C, NM_174911.4:c.-70T>C, XM_017013107.3:c.-70T>C, XM_017013107.2:c.-70T>C, XM_017013107.1:c.-70T>C, XM_017013108.3:c.-70T>C, XM_017013108.2:c.-70T>C, XM_017013108.1:c.-70T>C, NR_156466.2:n.472T>C, NR_156466.1:n.472T>C, XR_007060704.1:n.1020T>C, XR_007060705.1:n.486T>C, XR_007061097.1:n.916A>G

Select item 14907740702.

rs1490774070 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:126558195 (GRCh38)
8:127570440 (GRCh37)
Canonical SPDI:: NC_000008.11:126558194:T:G
Gene:: LRATD2 (Varview), LOC105375751 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.126558195T>G, NC_000008.10:g.127570440T>G, NM_174911.5:c.-258A>C, NM_174911.4:c.-258A>C, XM_017013107.3:c.-272A>C, XM_017013107.2:c.-272A>C, XM_017013107.1:c.-272A>C, XM_017013108.3:c.-258A>C, XM_017013108.2:c.-258A>C, XM_017013108.1:c.-258A>C, NR_156466.2:n.284A>C, NR_156466.1:n.284A>C, XR_007060704.1:n.284A>C, XR_007060705.1:n.284A>C

Select item 14905793073.

rs1490579307 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:126557529 (GRCh38)
8:127569774 (GRCh37)
Canonical SPDI:: NC_000008.11:126557528:G:T
Gene:: LRATD2 (Varview), LOC105375751 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.126557529G>T, NC_000008.10:g.127569774G>T, XR_007060704.1:n.950C>A, XR_007061097.1:n.986G>T

Select item 14901343334.

rs1490134333 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 8:126558960 (GRCh38)
8:127571205 (GRCh37)
Canonical SPDI:: NC_000008.11:126558959:AA:
Gene:: LRATD2 (Varview), LOC105375751 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.126558960_126558961del, NC_000008.10:g.127571205_127571206del

Select item 14899630265.

rs1489963026 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:126559885 (GRCh38)
8:127572130 (GRCh37)
Canonical SPDI:: NC_000008.11:126559884:T:C
Gene:: LRATD2 (Varview), LOC105375751 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_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_000008.11:g.126559885T>C, NC_000008.10:g.127572130T>C

Select item 14897838206.

rs1489783820 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 8:126557536 (GRCh38)
8:127569781 (GRCh37)
Canonical SPDI:: NC_000008.11:126557535:GGG:GG
Gene:: LRATD2 (Varview), LOC105375751 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.126557538del, NC_000008.10:g.127569783del, XR_007060704.1:n.943del, XR_007061097.1:n.995del

Select item 14895715377.

rs1489571537 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:126552759 (GRCh38)
8:127565004 (GRCh37)
Canonical SPDI:: NC_000008.11:126552758:C:T
Gene:: LRATD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.126552759C>T, NC_000008.10:g.127565004C>T, NM_174911.5:c.*3698G>A, NM_174911.4:c.*3698G>A, XM_017013107.3:c.*3698G>A, XM_017013107.2:c.*3698G>A, XM_017013107.1:c.*3698G>A, XM_017013108.3:c.*3698G>A, XM_017013108.2:c.*3698G>A, XM_017013108.1:c.*3698G>A, NR_156466.2:n.2411G>A, NR_156466.1:n.2411G>A, XR_007060704.1:n.2959G>A, XR_007060705.1:n.2425G>A

Select item 14894917868.

rs1489491786 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:126555061 (GRCh38)
8:127567306 (GRCh37)
Canonical SPDI:: NC_000008.11:126555060:C:T
Gene:: LRATD2 (Varview), LOC105375751 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,3_prime_UTR_variant
HGVS:: NC_000008.11:g.126555061C>T, NC_000008.10:g.127567306C>T, NM_174911.5:c.*1396G>A, NM_174911.4:c.*1396G>A, XM_017013107.3:c.*1396G>A, XM_017013107.2:c.*1396G>A, XM_017013107.1:c.*1396G>A, XM_017013108.3:c.*1396G>A, XM_017013108.2:c.*1396G>A, XM_017013108.1:c.*1396G>A

Select item 14894705159.

rs1489470515 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:126559103 (GRCh38)
8:127571348 (GRCh37)
Canonical SPDI:: NC_000008.11:126559102:C:T
Gene:: LRATD2 (Varview), LOC105375751 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00531/63 (ALFA)
HGVS:: NC_000008.11:g.126559103C>T, NC_000008.10:g.127571348C>T

Select item 148944447910.

rs1489444479 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 8:126556012 (GRCh38)
8:127568257 (GRCh37)
Canonical SPDI:: NC_000008.11:126556011:C:A,NC_000008.11:126556011:C:G
Gene:: LRATD2 (Varview), LOC105375751 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000132/2 (ALFA)
G=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000446/2 (Estonian)
HGVS:: NC_000008.11:g.126556012C>A, NC_000008.11:g.126556012C>G, NC_000008.10:g.127568257C>A, NC_000008.10:g.127568257C>G, NM_174911.5:c.*445G>T, NM_174911.5:c.*445G>C, NM_174911.4:c.*445G>T, NM_174911.4:c.*445G>C, XM_017013107.3:c.*445G>T, XM_017013107.3:c.*445G>C, XM_017013107.2:c.*445G>T, XM_017013107.2:c.*445G>C, XM_017013107.1:c.*445G>T, XM_017013107.1:c.*445G>C, XM_017013108.3:c.*445G>T, XM_017013108.3:c.*445G>C, XM_017013108.2:c.*445G>T, XM_017013108.2:c.*445G>C, XM_017013108.1:c.*445G>T, XM_017013108.1:c.*445G>C

Select item 148935655911.

rs1489356559 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:126557155 (GRCh38)
8:127569400 (GRCh37)
Canonical SPDI:: NC_000008.11:126557154:G:T
Gene:: LRATD2 (Varview), LOC105375751 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.126557155G>T, NC_000008.10:g.127569400G>T, NM_174911.5:c.235C>A, NM_174911.4:c.235C>A, XM_017013107.3:c.235C>A, XM_017013107.2:c.235C>A, XM_017013107.1:c.235C>A, XM_017013108.3:c.181C>A, XM_017013108.2:c.181C>A, XM_017013108.1:c.181C>A, NR_156466.2:n.776C>A, NR_156466.1:n.776C>A, XR_007060704.1:n.1324C>A, XR_007060705.1:n.790C>A, XR_007061097.1:n.612G>T, NP_777571.1:p.His79Asn, XP_016868596.1:p.His79Asn, XP_016868597.1:p.His61Asn

Select item 148917400212.

rs1489174002 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAA>- [Show Flanks]
Chromosome:: 8:126559645 (GRCh38)
8:127571890 (GRCh37)
Canonical SPDI:: NC_000008.11:126559641:CAAACAA:CAA
Gene:: LRATD2 (Varview), LOC105375751 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.126559645_126559648del, NC_000008.10:g.127571890_127571893del

Select item 148862703313.

rs1488627033 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:126552621 (GRCh38)
8:127564866 (GRCh37)
Canonical SPDI:: NC_000008.11:126552620:T:C
Gene:: LRATD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_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_000008.11:g.126552621T>C, NC_000008.10:g.127564866T>C, NM_174911.5:c.*3836A>G, NM_174911.4:c.*3836A>G, XM_017013107.3:c.*3836A>G, XM_017013107.2:c.*3836A>G, XM_017013107.1:c.*3836A>G, XM_017013108.3:c.*3836A>G, XM_017013108.2:c.*3836A>G, XM_017013108.1:c.*3836A>G, NR_156466.2:n.2549A>G, NR_156466.1:n.2549A>G, XR_007060704.1:n.3097A>G, XR_007060705.1:n.2563A>G

Select item 148749769214.

rs1487497692 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:126558448 (GRCh38)
8:127570693 (GRCh37)
Canonical SPDI:: NC_000008.11:126558447:A:G
Gene:: LRATD2 (Varview), LOC105375751 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
G=0.000156/1 (1000Genomes)
G=0.000212/6 (TOMMO)
HGVS:: NC_000008.11:g.126558448A>G, NC_000008.10:g.127570693A>G, NM_174911.5:c.-511T>C, NM_174911.4:c.-511T>C, XM_017013107.3:c.-525T>C, XM_017013107.2:c.-525T>C, XM_017013107.1:c.-525T>C, XM_017013108.3:c.-511T>C, XM_017013108.1:c.-511T>C, NR_156466.2:n.31T>C, NR_156466.1:n.31T>C, XR_007060704.1:n.31T>C, XR_007060705.1:n.31T>C

Select item 148715314615.

rs1487153146 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:126555011 (GRCh38)
8:127567256 (GRCh37)
Canonical SPDI:: NC_000008.11:126555010:A:G
Gene:: LRATD2 (Varview), LOC105375751 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.126555011A>G, NC_000008.10:g.127567256A>G, NM_174911.5:c.*1446T>C, NM_174911.4:c.*1446T>C, XM_017013107.3:c.*1446T>C, XM_017013107.2:c.*1446T>C, XM_017013107.1:c.*1446T>C, XM_017013108.3:c.*1446T>C, XM_017013108.2:c.*1446T>C, XM_017013108.1:c.*1446T>C

Select item 148712244316.

rs1487122443 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:126560203 (GRCh38)
8:127572448 (GRCh37)
Canonical SPDI:: NC_000008.11:126560202:G:A
Gene:: LRATD2 (Varview), LOC105375751 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_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_000008.11:g.126560203G>A, NC_000008.10:g.127572448G>A

Select item 148654456917.

rs1486544569 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:126557796 (GRCh38)
8:127570041 (GRCh37)
Canonical SPDI:: NC_000008.11:126557795:T:C
Gene:: LRATD2 (Varview), LOC105375751 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.126557796T>C, NC_000008.10:g.127570041T>C, XR_007060704.1:n.683A>G, XR_007061097.1:n.1253T>C

Select item 148631658118.

rs1486316581 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:126553870 (GRCh38)
8:127566115 (GRCh37)
Canonical SPDI:: NC_000008.11:126553869:C:T
Gene:: LRATD2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.126553870C>T, NC_000008.10:g.127566115C>T, NM_174911.5:c.*2587G>A, NM_174911.4:c.*2587G>A, XM_017013107.3:c.*2587G>A, XM_017013107.2:c.*2587G>A, XM_017013107.1:c.*2587G>A, XM_017013108.3:c.*2587G>A, XM_017013108.2:c.*2587G>A, XM_017013108.1:c.*2587G>A

Select item 148600384319.

rs1486003843 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:126557018 (GRCh38)
8:127569263 (GRCh37)
Canonical SPDI:: NC_000008.11:126557017:G:A,NC_000008.11:126557017:G:C
Gene:: LRATD2 (Varview), LOC105375751 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.126557018G>A, NC_000008.11:g.126557018G>C, NC_000008.10:g.127569263G>A, NC_000008.10:g.127569263G>C, NM_174911.5:c.372C>T, NM_174911.5:c.372C>G, NM_174911.4:c.372C>T, NM_174911.4:c.372C>G, XM_017013107.3:c.372C>T, XM_017013107.3:c.372C>G, XM_017013107.2:c.372C>T, XM_017013107.2:c.372C>G, XM_017013107.1:c.372C>T, XM_017013107.1:c.372C>G, XM_017013108.3:c.318C>T, XM_017013108.3:c.318C>G, XM_017013108.2:c.318C>T, XM_017013108.2:c.318C>G, XM_017013108.1:c.318C>T, XM_017013108.1:c.318C>G, NR_156466.2:n.913C>T, NR_156466.2:n.913C>G, NR_156466.1:n.913C>T, NR_156466.1:n.913C>G, XR_007060704.1:n.1461C>T, XR_007060704.1:n.1461C>G, XR_007060705.1:n.927C>T, XR_007060705.1:n.927C>G, XR_007061097.1:n.475G>A, XR_007061097.1:n.475G>C, NP_777571.1:p.Phe124Leu, XP_016868596.1:p.Phe124Leu, XP_016868597.1:p.Phe106Leu

Select item 148506667720.

rs1485066677 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:126556652 (GRCh38)
8:127568897 (GRCh37)
Canonical SPDI:: NC_000008.11:126556651:A:C
Gene:: LRATD2 (Varview), LOC105375751 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.126556652A>C, NC_000008.10:g.127568897A>C, NM_174911.5:c.738T>G, NM_174911.4:c.738T>G, XM_017013107.3:c.738T>G, XM_017013107.2:c.738T>G, XM_017013107.1:c.738T>G, XM_017013108.3:c.684T>G, XM_017013108.2:c.684T>G, XM_017013108.1:c.684T>G, NR_156466.2:n.1279T>G, NR_156466.1:n.1279T>G, XR_007060704.1:n.1827T>G, XR_007060705.1:n.1293T>G, XR_007061097.1:n.109A>C, NP_777571.1:p.Ser246Arg, XP_016868596.1:p.Ser246Arg, XP_016868597.1:p.Ser228Arg

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