SNP Links for Gene (Select 2840) - SNP

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Select item 14907475981.

rs1490747598 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAA>- [Show Flanks]
Chromosome:: 2:127649098 (GRCh38)
2:128406673 (GRCh37)
Canonical SPDI:: NC_000002.12:127649095:AAGAA:AA
Gene:: GPR17 (Varview), LIMS2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.00008/1 (ALFA)
-=0.00005/1 (TOMMO)
HGVS:: NC_000002.12:g.127649098_127649100del, NC_000002.11:g.128406673_128406675del, NG_042235.1:g.37689_37691del

Select item 14897970862.

rs1489797086 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:127648953 (GRCh38)
2:128406528 (GRCh37)
Canonical SPDI:: NC_000002.12:127648952:A:G
Gene:: GPR17 (Varview), LIMS2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00017/2 (ALFA)
A=0./0 (SGDP_PRJ)
G=0.0299/75 (KOREAN)
HGVS:: NC_000002.12:g.127648953A>G, NC_000002.11:g.128406528A>G, NG_042235.1:g.37834T>C

Select item 14897707093.

rs1489770709 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:127646794 (GRCh38)
2:128404369 (GRCh37)
Canonical SPDI:: NC_000002.12:127646793:T:A,NC_000002.12:127646793:T:C
Gene:: GPR17 (Varview), LIMS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.127646794T>A, NC_000002.12:g.127646794T>C, NC_000002.11:g.128404369T>A, NC_000002.11:g.128404369T>C, NG_042235.1:g.39993A>T, NG_042235.1:g.39993A>G

Select item 14895839284.

rs1489583928 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:127653127 (GRCh38)
2:128410701 (GRCh37)
Canonical SPDI:: NC_000002.12:127653126:A:G
Gene:: GPR17 (Varview), LIMS2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,500B_downstream_variant,downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_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.127653127A>G, NC_000002.11:g.128410701A>G, NG_042235.1:g.33660T>C, XM_006712628.4:c.530T>C, XM_006712628.3:c.530T>C, XM_006712628.2:c.530T>C, XM_006712628.1:c.530T>C, XP_006712691.1:p.Leu177Pro

Select item 14891634685.

rs1489163468 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:127649716 (GRCh38)
2:128407291 (GRCh37)
Canonical SPDI:: NC_000002.12:127649715:T:C
Gene:: GPR17 (Varview), LIMS2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.127649716T>C, NC_000002.11:g.128407291T>C, NG_042235.1:g.37071A>G, NG_075570.1:g.103T>C

Select item 14888922796.

rs1488892279 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:127644317 (GRCh38)
2:128401892 (GRCh37)
Canonical SPDI:: NC_000002.12:127644316:G:A
Gene:: GPR17 (Varview), LIMS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000023/6 (TOPMED)
A=0.000342/1 (KOREAN)
HGVS:: NC_000002.12:g.127644317G>A, NC_000002.11:g.128401892G>A, NG_042235.1:g.42470C>T

Select item 14884546767.

rs1488454676 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:127648448 (GRCh38)
2:128406023 (GRCh37)
Canonical SPDI:: NC_000002.12:127648447:G:T
Gene:: GPR17 (Varview), LIMS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.127648448G>T, NC_000002.11:g.128406023G>T, NG_042235.1:g.38339C>A, XM_047444975.1:c.-509C>A

Select item 14883199268.

rs1488319926 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:127650477 (GRCh38)
2:128408052 (GRCh37)
Canonical SPDI:: NC_000002.12:127650476:T:C
Gene:: GPR17 (Varview), LIMS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,genic_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)
C=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.127650477T>C, NC_000002.11:g.128408052T>C, NG_042235.1:g.36310A>G, XM_047444975.1:c.-1556A>G, XM_047444976.1:c.-1261A>G

Select item 14883136269.

rs1488313626 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAG,AAGGAAG,AAGGAAGGAAGGAAG,AAGGAAGGAAGGAAGGAAG,AAGGAAGGAAGGAAGGAAGGAACG [Show Flanks]
Chromosome:: 2:127649211 (GRCh38)
2:128406787 (GRCh37)
Canonical SPDI:: NC_000002.12:127649211:G:GAAG,NC_000002.12:127649211:G:GAAGGAAG,NC_000002.12:127649211:G:GAAGGAAGGAAGGAAG,NC_000002.12:127649211:G:GAAGGAAGGAAGGAAGGAAG,NC_000002.12:127649211:G:GAAGGAAGGAAGGAAGGAAGGAACG
Gene:: GPR17 (Varview), LIMS2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAAG=0.0011/5 (ALFA)
GAA=0./0 (Korea1K)
HGVS:: NC_000002.12:g.127649212_127649213insAAG, NC_000002.12:g.127649212_127649213insAAGGAAG, NC_000002.12:g.127649212_127649213insAAGGAAGGAAGGAAG, NC_000002.12:g.127649212_127649213insAAGGAAGGAAGGAAGGAAG, NC_000002.12:g.127649212GAAG[5]GAACG[1], NC_000002.11:g.128406787_128406788insAAG, NC_000002.11:g.128406787_128406788insAAGGAAG, NC_000002.11:g.128406787_128406788insAAGGAAGGAAGGAAG, NC_000002.11:g.128406787_128406788insAAGGAAGGAAGGAAGGAAG, NC_000002.11:g.128406787GAAG[5]GAACG[1], NG_042235.1:g.37575_37576insTTC, NG_042235.1:g.37575_37576insTTCCTTC, NG_042235.1:g.37575_37576insTTCCTTCCTTCCTTC, NG_042235.1:g.37575_37576insTTCCTTCCTTCCTTCCTTC, NG_042235.1:g.37575_37576insGTTCCTTCCTTCCTTCCTTCCTTC

Select item 148828314810.

rs1488283148 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:127645065 (GRCh38)
2:128402640 (GRCh37)
Canonical SPDI:: NC_000002.12:127645064:A:C
Gene:: GPR17 (Varview), LIMS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_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_000002.12:g.127645065A>C, NC_000002.11:g.128402640A>C, NG_042235.1:g.41722T>G

Select item 148825409111.

rs1488254091 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:127645692 (GRCh38)
2:128403267 (GRCh37)
Canonical SPDI:: NC_000002.12:127645691:G:T
Gene:: GPR17 (Varview), LIMS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.127645692G>T, NC_000002.11:g.128403267G>T, NG_042235.1:g.41095C>A

Select item 148730712312.

rs1487307123 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:127644626 (GRCh38)
2:128402201 (GRCh37)
Canonical SPDI:: NC_000002.12:127644625:T:G
Gene:: GPR17 (Varview), LIMS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.127644626T>G, NC_000002.11:g.128402201T>G, NG_042235.1:g.42161A>C

Select item 148723961513.

rs1487239615 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:127650152 (GRCh38)
2:128407727 (GRCh37)
Canonical SPDI:: NC_000002.12:127650151:C:T
Gene:: GPR17 (Varview), LIMS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000546/1 (Korea1K)
HGVS:: NC_000002.12:g.127650152C>T, NC_000002.11:g.128407727C>T, NG_042235.1:g.36635G>A, XM_047444975.1:c.-1231G>A, XM_047444976.1:c.-936G>A

Select item 148688287714.

rs1486882877 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:127649221 (GRCh38)
2:128406796 (GRCh37)
Canonical SPDI:: NC_000002.12:127649220:A:G
Gene:: GPR17 (Varview), LIMS2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00045/2 (ALFA)
G=0.00036/6 (TOMMO)
G=0.00045/2 (Estonian)
HGVS:: NC_000002.12:g.127649221A>G, NC_000002.11:g.128406796A>G, NG_042235.1:g.37566T>C

Select item 148653267415.

rs1486532674 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:127646305 (GRCh38)
2:128403880 (GRCh37)
Canonical SPDI:: NC_000002.12:127646304:G:A
Gene:: GPR17 (Varview), LIMS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.127646305G>A, NC_000002.11:g.128403880G>A, NG_042235.1:g.40482C>T

Select item 148536335616.

rs1485363356 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:127652355 (GRCh38)
2:128409929 (GRCh37)
Canonical SPDI:: NC_000002.12:127652354:C:A,NC_000002.12:127652354:C:T
Gene:: GPR17 (Varview), LIMS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.127652355C>A, NC_000002.12:g.127652355C>T, NC_000002.11:g.128409929C>A, NC_000002.11:g.128409929C>T, NG_042235.1:g.34432G>T, NG_042235.1:g.34432G>A, NM_005291.3:c.*600C>A, NM_005291.3:c.*600C>T, NM_005291.2:c.*600C>A, NM_005291.2:c.*600C>T, NM_001161415.2:c.*600C>A, NM_001161415.2:c.*600C>T, NM_001161415.1:c.*600C>A, NM_001161415.1:c.*600C>T, NM_001161416.2:c.*600C>A, NM_001161416.2:c.*600C>T, NM_001161416.1:c.*600C>A, NM_001161416.1:c.*600C>T, NM_001161417.2:c.*600C>A, NM_001161417.2:c.*600C>T, NM_001161417.1:c.*600C>A, NM_001161417.1:c.*600C>T

Select item 148518906317.

rs1485189063 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:127649072 (GRCh38)
2:128406647 (GRCh37)
Canonical SPDI:: NC_000002.12:127649071:G:A,NC_000002.12:127649071:G:C
Gene:: GPR17 (Varview), LIMS2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00025/3 (ALFA)
C=0.00054/9 (TOMMO)
HGVS:: NC_000002.12:g.127649072G>A, NC_000002.12:g.127649072G>C, NC_000002.11:g.128406647G>A, NC_000002.11:g.128406647G>C, NG_042235.1:g.37715C>T, NG_042235.1:g.37715C>G

Select item 148432810818.

rs1484328108 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:127650770 (GRCh38)
2:128408344 (GRCh37)
Canonical SPDI:: NC_000002.12:127650769:T:C
Gene:: GPR17 (Varview), LIMS2 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.127650770T>C, NC_000002.11:g.128408344T>C, NG_042235.1:g.36017A>G, NM_005291.3:c.119T>C, NM_005291.2:c.119T>C, NM_001161415.2:c.119T>C, NM_001161415.1:c.119T>C, NM_001161416.2:c.35T>C, NM_001161416.1:c.35T>C, NM_001161417.2:c.35T>C, NM_001161417.1:c.35T>C, NP_005282.1:p.Ile40Thr, NP_001154887.1:p.Ile40Thr, NP_001154888.1:p.Ile12Thr, NP_001154889.1:p.Ile12Thr

Select item 148371939119.

rs1483719391 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:127646464 (GRCh38)
2:128404039 (GRCh37)
Canonical SPDI:: NC_000002.12:127646463:G:A
Gene:: GPR17 (Varview), LIMS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.127646464G>A, NC_000002.11:g.128404039G>A, NG_042235.1:g.40323C>T

Select item 148348795120.

rs1483487951 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:127649887 (GRCh38)
2:128407462 (GRCh37)
Canonical SPDI:: NC_000002.12:127649886:T:C
Gene:: GPR17 (Varview), LIMS2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,intron_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_000002.12:g.127649887T>C, NC_000002.11:g.128407462T>C, NG_042235.1:g.36900A>G, NG_075570.1:g.274T>C, XM_047444975.1:c.-966A>G, XM_047444976.1:c.-671A>G

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