SNP Links for Gene (Select 56475) - SNP

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Select item 14908358081.

rs1490835808 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:153477535 (GRCh38)
2:154334049 (GRCh37)
Canonical SPDI:: NC_000002.12:153477534:A:G
Gene:: RPRM (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.153477535A>G, NC_000002.11:g.154334049A>G, NM_019845.3:c.*701T>C, NM_019845.2:c.*701T>C

Select item 14898531522.

rs1489853152 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:153478409 (GRCh38)
2:154334923 (GRCh37)
Canonical SPDI:: NC_000002.12:153478408:T:C,NC_000002.12:153478408:T:G
Gene:: RPRM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.153478409T>C, NC_000002.12:g.153478409T>G, NC_000002.11:g.154334923T>C, NC_000002.11:g.154334923T>G, NM_019845.3:c.157A>G, NM_019845.3:c.157A>C, NM_019845.2:c.157A>G, NM_019845.2:c.157A>C, NP_062819.1:p.Ile53Val, NP_062819.1:p.Ile53Leu

Select item 14886474433.

rs1488647443 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:153478264 (GRCh38)
2:154334778 (GRCh37)
Canonical SPDI:: NC_000002.12:153478263:A:C,NC_000002.12:153478263:A:G
Gene:: RPRM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000056/2 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
C=0.003275/6 (Korea1K)
HGVS:: NC_000002.12:g.153478264A>C, NC_000002.12:g.153478264A>G, NC_000002.11:g.154334778A>C, NC_000002.11:g.154334778A>G, NM_019845.3:c.302T>G, NM_019845.3:c.302T>C, NM_019845.2:c.302T>G, NM_019845.2:c.302T>C, NP_062819.1:p.Val101Gly, NP_062819.1:p.Val101Ala

Select item 14878014594.

rs1487801459 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:153480136 (GRCh38)
2:154336649 (GRCh37)
Canonical SPDI:: NC_000002.12:153480135:A:G
Gene:: RPRM (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000002.12:g.153480136A>G, NC_000002.11:g.154336649A>G

Select item 14874721985.

rs1487472198 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:153480701 (GRCh38)
2:154337214 (GRCh37)
Canonical SPDI:: NC_000002.12:153480700:T:C
Gene:: RPRM (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.153480701T>C, NC_000002.11:g.154337214T>C

Select item 14867351706.

rs1486735170 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:153477588 (GRCh38)
2:154334102 (GRCh37)
Canonical SPDI:: NC_000002.12:153477587:T:C
Gene:: RPRM (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: C=0.00279/46 (TOMMO)
HGVS:: NC_000002.12:g.153477588T>C, NC_000002.11:g.154334102T>C, NM_019845.3:c.*648A>G, NM_019845.2:c.*648A>G

Select item 14865537497.

rs1486553749 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:153480502 (GRCh38)
2:154337015 (GRCh37)
Canonical SPDI:: NC_000002.12:153480501:A:G
Gene:: RPRM (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.153480502A>G, NC_000002.11:g.154337015A>G

Select item 14864653688.

rs1486465368 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:153477365 (GRCh38)
2:154333879 (GRCh37)
Canonical SPDI:: NC_000002.12:153477364:G:A
Gene:: RPRM (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.153477365G>A, NC_000002.11:g.154333879G>A, NM_019845.3:c.*871C>T, NM_019845.2:c.*871C>T

Select item 14862079499.

rs1486207949 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:153478313 (GRCh38)
2:154334827 (GRCh37)
Canonical SPDI:: NC_000002.12:153478312:C:T
Gene:: RPRM (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000002.12:g.153478313C>T, NC_000002.11:g.154334827C>T, NM_019845.3:c.253G>A, NM_019845.2:c.253G>A, NP_062819.1:p.Glu85Lys

Select item 148552641010.

rs1485526410 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:153479128 (GRCh38)
2:154335642 (GRCh37)
Canonical SPDI:: NC_000002.12:153479127:A:G
Gene:: RPRM (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.153479128A>G, NC_000002.11:g.154335642A>G

Select item 148319722911.

rs1483197229 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:153480614 (GRCh38)
2:154337127 (GRCh37)
Canonical SPDI:: NC_000002.12:153480613:A:C,NC_000002.12:153480613:A:G
Gene:: RPRM (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.153480614A>C, NC_000002.12:g.153480614A>G, NC_000002.11:g.154337127A>C, NC_000002.11:g.154337127A>G

Select item 148298248512.

rs1482982485 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:153477177 (GRCh38)
2:154333691 (GRCh37)
Canonical SPDI:: NC_000002.12:153477176:A:C,NC_000002.12:153477176:A:G
Gene:: RPRM (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)
C=0.000546/1 (Korea1K)
HGVS:: NC_000002.12:g.153477177A>C, NC_000002.12:g.153477177A>G, NC_000002.11:g.154333691A>C, NC_000002.11:g.154333691A>G

Select item 147978104913.

rs1479781049 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:153478501 (GRCh38)
2:154335015 (GRCh37)
Canonical SPDI:: NC_000002.12:153478500:G:T
Gene:: RPRM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.153478501G>T, NC_000002.11:g.154335015G>T, NM_019845.3:c.65C>A, NM_019845.2:c.65C>A, NP_062819.1:p.Ala22Glu

Select item 147941186114.

rs1479411861 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:153479194 (GRCh38)
2:154335708 (GRCh37)
Canonical SPDI:: NC_000002.12:153479193:C:T
Gene:: RPRM (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.153479194C>T, NC_000002.11:g.154335708C>T

Select item 147908565815.

rs1479085658 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:153479712 (GRCh38)
2:154336225 (GRCh37)
Canonical SPDI:: NC_000002.12:153479711:C:T
Gene:: RPRM (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.153479712C>T, NC_000002.11:g.154336225C>T

Select item 147814770216.

rs1478147702 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:153478209 (GRCh38)
2:154334723 (GRCh37)
Canonical SPDI:: NC_000002.12:153478208:G:A,NC_000002.12:153478208:G:T
Gene:: RPRM (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.153478209G>A, NC_000002.12:g.153478209G>T, NC_000002.11:g.154334723G>A, NC_000002.11:g.154334723G>T, NM_019845.3:c.*27C>T, NM_019845.3:c.*27C>A, NM_019845.2:c.*27C>T, NM_019845.2:c.*27C>A

Select item 147806151017.

rs1478061510 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 2:153477168 (GRCh38)
2:154333682 (GRCh37)
Canonical SPDI:: NC_000002.12:153477167:A:C,NC_000002.12:153477167:A:T
Gene:: RPRM (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
C=0.000071/1 (TOMMO)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000002.12:g.153477168A>C, NC_000002.12:g.153477168A>T, NC_000002.11:g.154333682A>C, NC_000002.11:g.154333682A>T

Select item 147619611818.

rs1476196118 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:153477386 (GRCh38)
2:154333900 (GRCh37)
Canonical SPDI:: NC_000002.12:153477385:A:C,NC_000002.12:153477385:A:G
Gene:: RPRM (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.153477386A>C, NC_000002.12:g.153477386A>G, NC_000002.11:g.154333900A>C, NC_000002.11:g.154333900A>G, NM_019845.3:c.*850T>G, NM_019845.3:c.*850T>C, NM_019845.2:c.*850T>G, NM_019845.2:c.*850T>C

Select item 147611316919.

rs1476113169 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:153477901 (GRCh38)
2:154334415 (GRCh37)
Canonical SPDI:: NC_000002.12:153477900:A:T
Gene:: RPRM (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.153477901A>T, NC_000002.11:g.154334415A>T, NM_019845.3:c.*335T>A, NM_019845.2:c.*335T>A

Select item 147609454220.

rs1476094542 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:153479349 (GRCh38)
2:154335862 (GRCh37)
Canonical SPDI:: NC_000002.12:153479348:G:A
Gene:: RPRM (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00033/5 (ALFA)
A=0.000036/5 (GnomAD)
HGVS:: NC_000002.12:g.153479349G>A, NC_000002.11:g.154335862G>A

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