SNP Links for Gene (Select 145873) - SNP

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Items: 1 to 20 of 1429

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Select item 14913954601.

rs1491395460 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 15:89776913 (GRCh38)
15:90320144 (GRCh37)
Canonical SPDI:: NC_000015.10:89776912:CA:
Gene:: MESP2 (Varview), LOC124903550 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by cluster
MAF:: -=0.00001/1 (GnomAD_exomes)
-=0.00004/1 (TOMMO)
HGVS:: NC_000015.10:g.89776913_89776914del, NC_000015.9:g.90320144_90320145del, NG_008608.2:g.21323_21324del, NM_001039958.2:c.556_557del, NM_001039958.1:c.556_557del, NP_001035047.1:p.Gln186fs

Select item 14911971602.

rs1491197160 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 15:89776913 (GRCh38)
15:90320145 (GRCh37)
Canonical SPDI:: NC_000015.10:89776913:A:AA
Gene:: MESP2 (Varview), LOC124903550 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by cluster
MAF:: A=0.00001/1 (GnomAD_exomes)
A=0.00076/3 (GnomAD)
HGVS:: NC_000015.10:g.89776914dup, NC_000015.9:g.90320145dup, NG_008608.2:g.21324dup, NM_001039958.2:c.557dup, NM_001039958.1:c.557dup, NP_001035047.1:p.Gln188fs

Select item 14907181953.

rs1490718195 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:89778138 (GRCh38)
15:90321369 (GRCh37)
Canonical SPDI:: NC_000015.10:89778137:G:A
Gene:: MESP2 (Varview), LOC124903550 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.89778138G>A, NC_000015.9:g.90321369G>A, NG_008608.2:g.22548G>A, NM_001039958.2:c.998G>A, NM_001039958.1:c.998G>A, NP_001035047.1:p.Arg333Lys

Select item 14906897064.

rs1490689706 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 15:89776928 (GRCh38)
15:90320159 (GRCh37)
Canonical SPDI:: NC_000015.10:89776927:GGG:GG
Gene:: MESP2 (Varview), LOC124903550 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,frameshift_variant
HGVS:: NC_000015.10:g.89776930del, NC_000015.9:g.90320161del, NG_008608.2:g.21340del, NM_001039958.2:c.573del, NM_001039958.1:c.573del, NP_001035047.1:p.Gln192fs

Select item 14902068835.

rs1490206883 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:89774933 (GRCh38)
15:90318164 (GRCh37)
Canonical SPDI:: NC_000015.10:89774932:T:C
Gene:: MESP2 (Varview), LOC124903550 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.89774933T>C, NC_000015.9:g.90318164T>C, NG_008608.2:g.19343T>C, XR_007064752.1:n.650A>G, XR_007064751.1:n.439A>G

Select item 14874978236.

rs1487497823 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:89776600 (GRCh38)
15:90319831 (GRCh37)
Canonical SPDI:: NC_000015.10:89776599:A:G
Gene:: MESP2 (Varview), LOC124903550 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant
HGVS:: NC_000015.10:g.89776600A>G, NC_000015.9:g.90319831A>G, NG_008608.2:g.21010A>G, NM_001039958.2:c.243A>G, NM_001039958.1:c.243A>G, XR_007064751.1:n.10T>C

Select item 14874083107.

rs1487408310 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:89776446 (GRCh38)
15:90319677 (GRCh37)
Canonical SPDI:: NC_000015.10:89776445:C:T
Gene:: MESP2 (Varview), LOC124903550 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.89776446C>T, NC_000015.9:g.90319677C>T, NG_008608.2:g.20856C>T, NM_001039958.2:c.89C>T, NM_001039958.1:c.89C>T, XR_007064752.1:n.129G>A, XR_007064751.1:n.164G>A, NP_001035047.1:p.Ser30Phe

Select item 14868281688.

rs1486828168 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:89775521 (GRCh38)
15:90318752 (GRCh37)
Canonical SPDI:: NC_000015.10:89775520:C:A,NC_000015.10:89775520:C:T
Gene:: MESP2 (Varview), LOC124903550 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000015.10:g.89775521C>A, NC_000015.10:g.89775521C>T, NC_000015.9:g.90318752C>A, NC_000015.9:g.90318752C>T, NG_008608.2:g.19931C>A, NG_008608.2:g.19931C>T

Select item 14867763089.

rs1486776308 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:89777105 (GRCh38)
15:90320336 (GRCh37)
Canonical SPDI:: NC_000015.10:89777104:C:A,NC_000015.10:89777104:C:T
Gene:: MESP2 (Varview), LOC124903550 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.89777105C>A, NC_000015.10:g.89777105C>T, NC_000015.9:g.90320336C>A, NC_000015.9:g.90320336C>T, NG_008608.2:g.21515C>A, NG_008608.2:g.21515C>T, NM_001039958.2:c.748C>A, NM_001039958.2:c.748C>T, NM_001039958.1:c.748C>A, NM_001039958.1:c.748C>T, NP_001035047.1:p.Pro250Thr, NP_001035047.1:p.Pro250Ser

Select item 148658769910.

rs1486587699 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:89774786 (GRCh38)
15:90318017 (GRCh37)
Canonical SPDI:: NC_000015.10:89774785:C:T
Gene:: MESP2 (Varview), LOC124903550 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.89774786C>T, NC_000015.9:g.90318017C>T, NG_008608.2:g.19196C>T, XR_007064752.1:n.797G>A, XR_007064751.1:n.586G>A

Select item 148623026811.

rs1486230268 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:89778852 (GRCh38)
15:90322083 (GRCh37)
Canonical SPDI:: NC_000015.10:89778851:C:T
Gene:: MESP2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000015.10:g.89778852C>T, NC_000015.9:g.90322083C>T, NG_008608.2:g.23262C>T

Select item 148525790112.

rs1485257901 has merged into rs768139078 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 15:89778312 (GRCh38)
15:90321543 (GRCh37)
Canonical SPDI:: NC_000015.10:89778311:CCC:CC,NC_000015.10:89778311:CCC:CCCC
Gene:: MESP2 (Varview), LOC124903550 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0.000071/1 (ALFA)
-=0.000009/1 (ExAC)
-=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.89778314del, NC_000015.10:g.89778314dup, NC_000015.9:g.90321545del, NC_000015.9:g.90321545dup, NG_008608.2:g.22724del, NG_008608.2:g.22724dup, NM_001039958.2:c.1174del, NM_001039958.2:c.1174dup, NM_001039958.1:c.1174del, NM_001039958.1:c.1174dup, NP_001035047.1:p.Arg392fs, NP_001035047.1:p.Arg392fs

Select item 148487673313.

rs1484876733 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:89774803 (GRCh38)
15:90318034 (GRCh37)
Canonical SPDI:: NC_000015.10:89774802:A:G
Gene:: MESP2 (Varview), LOC124903550 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.89774803A>G, NC_000015.9:g.90318034A>G, NG_008608.2:g.19213A>G, XR_007064752.1:n.780T>C, XR_007064751.1:n.569T>C

Select item 148299013214.

rs1482990132 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:89775564 (GRCh38)
15:90318795 (GRCh37)
Canonical SPDI:: NC_000015.10:89775563:T:A
Gene:: MESP2 (Varview), LOC124903550 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000015.10:g.89775564T>A, NC_000015.9:g.90318795T>A, NG_008608.2:g.19974T>A

Select item 148282065915.

rs1482820659 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:89778838 (GRCh38)
15:90322069 (GRCh37)
Canonical SPDI:: NC_000015.10:89778837:C:A
Gene:: MESP2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.89778838C>A, NC_000015.9:g.90322069C>A, NG_008608.2:g.23248C>A

Select item 148281879516.

rs1482818795 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:89777176 (GRCh38)
15:90320407 (GRCh37)
Canonical SPDI:: NC_000015.10:89777175:G:A
Gene:: MESP2 (Varview), LOC124903550 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.89777176G>A, NC_000015.9:g.90320407G>A, NG_008608.2:g.21586G>A, NM_001039958.2:c.819G>A, NM_001039958.1:c.819G>A

Select item 148275291217.

rs1482752912 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 15:89776652 (GRCh38)
15:90319883 (GRCh37)
Canonical SPDI:: NC_000015.10:89776651:C:A,NC_000015.10:89776651:C:G,NC_000015.10:89776651:C:T
Gene:: MESP2 (Varview), LOC124903550 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000015.10:g.89776652C>A, NC_000015.10:g.89776652C>G, NC_000015.10:g.89776652C>T, NC_000015.9:g.90319883C>A, NC_000015.9:g.90319883C>G, NC_000015.9:g.90319883C>T, NG_008608.2:g.21062C>A, NG_008608.2:g.21062C>G, NG_008608.2:g.21062C>T, NM_001039958.2:c.295C>A, NM_001039958.2:c.295C>G, NM_001039958.2:c.295C>T, NM_001039958.1:c.295C>A, NM_001039958.1:c.295C>G, NM_001039958.1:c.295C>T, NP_001035047.1:p.Arg99Ser, NP_001035047.1:p.Arg99Gly, NP_001035047.1:p.Arg99Cys

Select item 148206174218.

rs1482061742 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 15:89774545 (GRCh38)
15:90317776 (GRCh37)
Canonical SPDI:: NC_000015.10:89774544:A:G,NC_000015.10:89774544:A:T
Gene:: MESP2 (Varview), LOC124903550 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000015.10:g.89774545A>G, NC_000015.10:g.89774545A>T, NC_000015.9:g.90317776A>G, NC_000015.9:g.90317776A>T, NG_008608.2:g.18955A>G, NG_008608.2:g.18955A>T, XR_007064752.1:n.1038T>C, XR_007064752.1:n.1038T>A, XR_007064751.1:n.827T>C, XR_007064751.1:n.827T>A

Select item 148183621519.

rs1481836215 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:89778295 (GRCh38)
15:90321526 (GRCh37)
Canonical SPDI:: NC_000015.10:89778294:A:G
Gene:: MESP2 (Varview), LOC124903550 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_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_000015.10:g.89778295A>G, NC_000015.9:g.90321526A>G, NG_008608.2:g.22705A>G, NM_001039958.2:c.1155A>G, NM_001039958.1:c.1155A>G

Select item 148136162620.

rs1481361626 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGAGGACCAGAGGACC [Show Flanks]
Chromosome:: 15:89778208 (GRCh38)
15:90321440 (GRCh37)
Canonical SPDI:: NC_000015.10:89778208:GGACC:GGACCAGAGGACCAGAGGACC
Gene:: MESP2 (Varview), LOC124903550 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,upstream_transcript_variant,2KB_upstream_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: GGACCAGAGGACCAGAGGACC=0./0 (ALFA)
GGACCAGAGGACCAGA=0.000008/2 (TOPMED)
GGACCAGAGGACCAGA=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.89778213_89778214insAGAGGACCAGAGGACC, NC_000015.9:g.90321444_90321445insAGAGGACCAGAGGACC, NG_008608.2:g.22623_22624insAGAGGACCAGAGGACC, NM_001039958.2:c.1073_1074insAGAGGACCAGAGGACC, NM_001039958.1:c.1073_1074insAGAGGACCAGAGGACC, NP_001035047.1:p.Gly359fs

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