SNP Links for Gene (Select 64284) - SNP

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Select item 14915480471.

rs1491548047 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 2:237578941 (GRCh38)
2:238487584 (GRCh37)
Canonical SPDI:: NC_000002.12:237578940:AA:
Gene:: RAB17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000066/9 (GnomAD)
-=0.001097/18 (TOMMO)
HGVS:: NC_000002.12:g.237578941_237578942del, NC_000002.11:g.238487584_238487585del

Select item 14914286792.

rs1491428679 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,CAC,CACAC,CACACAC,CACACACAC,CACACACACAC,CACACACACACAC,CACACACACACACACAC,CACC [Show Flanks]
Chromosome:: 2:237578941 (GRCh38)
2:238487585 (GRCh37)
Canonical SPDI:: NC_000002.12:237578941::C,NC_000002.12:237578941::CAC,NC_000002.12:237578941::CACAC,NC_000002.12:237578941::CACACAC,NC_000002.12:237578941::CACACACAC,NC_000002.12:237578941::CACACACACAC,NC_000002.12:237578941::CACACACACACAC,NC_000002.12:237578941::CACACACACACACACAC,NC_000002.12:237578941::CACC
Gene:: RAB17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACC=0./0 (ALFA)
C=0.00167/1 (NorthernSweden)
HGVS:: NC_000002.12:g.237578941_237578942insC, NC_000002.12:g.237578941_237578942insCAC, NC_000002.12:g.237578941_237578942insCACAC, NC_000002.12:g.237578941_237578942insCACACAC, NC_000002.12:g.237578941_237578942insCACACACAC, NC_000002.12:g.237578941_237578942insCACACACACAC, NC_000002.12:g.237578941_237578942insCACACACACACAC, NC_000002.12:g.237578941_237578942insCACACACACACACACAC, NC_000002.12:g.237578941_237578942insCACC, NC_000002.11:g.238487584_238487585insC, NC_000002.11:g.238487584_238487585insCAC, NC_000002.11:g.238487584_238487585insCACAC, NC_000002.11:g.238487584_238487585insCACACAC, NC_000002.11:g.238487584_238487585insCACACACAC, NC_000002.11:g.238487584_238487585insCACACACACAC, NC_000002.11:g.238487584_238487585insCACACACACACAC, NC_000002.11:g.238487584_238487585insCACACACACACACACAC, NC_000002.11:g.238487584_238487585insCACC

Select item 14909733843.

rs1490973384 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:237582880 (GRCh38)
2:238491523 (GRCh37)
Canonical SPDI:: NC_000002.12:237582879:G:A,NC_000002.12:237582879:G:T
Gene:: RAB17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.237582880G>A, NC_000002.12:g.237582880G>T, NC_000002.11:g.238491523G>A, NC_000002.11:g.238491523G>T

Select item 14908658254.

rs1490865825 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:237583816 (GRCh38)
2:238492459 (GRCh37)
Canonical SPDI:: NC_000002.12:237583815:C:G
Gene:: RAB17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.237583816C>G, NC_000002.11:g.238492459C>G

Select item 14906119725.

rs1490611972 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:237575087 (GRCh38)
2:238483730 (GRCh37)
Canonical SPDI:: NC_000002.12:237575086:G:A
Gene:: RAB17 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000056/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.237575087G>A, NC_000002.11:g.238483730G>A, NM_022449.4:c.571C>T, NM_022449.3:c.571C>T, XM_006712689.3:c.505C>T, XM_006712689.2:c.505C>T, XM_006712689.1:c.505C>T, NR_033308.2:n.690C>T, NR_033308.1:n.1082C>T, XM_047445412.1:c.599C>T, XM_047445413.1:c.533C>T, XP_047301368.1:p.Ser200Phe, XP_047301369.1:p.Ser178Phe

Select item 14904988596.

rs1490498859 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:237590887 (GRCh38)
2:238499530 (GRCh37)
Canonical SPDI:: NC_000002.12:237590886:A:T
Gene:: RAB17 (Varview), RAB17-DT (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.237590887A>T, NC_000002.11:g.238499530A>T, NM_022449.3:c.-424T>A, XR_001739965.3:n.47A>T, NR_033308.1:n.240T>A

Select item 14904686797.

rs1490468679 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:237590080 (GRCh38)
2:238498723 (GRCh37)
Canonical SPDI:: NC_000002.12:237590079:T:C,NC_000002.12:237590079:T:G
Gene:: RAB17 (Varview), RAB17-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_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.237590080T>C, NC_000002.12:g.237590080T>G, NC_000002.11:g.238498723T>C, NC_000002.11:g.238498723T>G

Select item 14903347028.

rs1490334702 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:237590432 (GRCh38)
2:238499075 (GRCh37)
Canonical SPDI:: NC_000002.12:237590431:C:G
Gene:: RAB17 (Varview), RAB17-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_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.237590432C>G, NC_000002.11:g.238499075C>G

Select item 14901628429.

rs1490162842 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:237580447 (GRCh38)
2:238489090 (GRCh37)
Canonical SPDI:: NC_000002.12:237580446:A:G
Gene:: RAB17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.237580447A>G, NC_000002.11:g.238489090A>G

Select item 149015511410.

rs1490155114 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:237582436 (GRCh38)
2:238491079 (GRCh37)
Canonical SPDI:: NC_000002.12:237582435:G:A,NC_000002.12:237582435:G:T
Gene:: RAB17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.237582436G>A, NC_000002.12:g.237582436G>T, NC_000002.11:g.238491079G>A, NC_000002.11:g.238491079G>T

Select item 149004775711.

rs1490047757 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:237583416 (GRCh38)
2:238492059 (GRCh37)
Canonical SPDI:: NC_000002.12:237583415:C:T
Gene:: RAB17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.237583416C>T, NC_000002.11:g.238492059C>T

Select item 148980171312.

rs1489801713 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:237576581 (GRCh38)
2:238485224 (GRCh37)
Canonical SPDI:: NC_000002.12:237576580:C:G,NC_000002.12:237576580:C:T
Gene:: RAB17 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.237576581C>G, NC_000002.12:g.237576581C>T, NC_000002.11:g.238485224C>G, NC_000002.11:g.238485224C>T, XM_017004693.3:c.*94G>C, XM_017004693.3:c.*94G>A, XM_017004693.2:c.*94G>C, XM_017004693.2:c.*94G>A, XM_017004693.1:c.*94G>C, XM_017004693.1:c.*94G>A, XM_017004694.3:c.*94G>C, XM_017004694.3:c.*94G>A, XM_017004694.2:c.*94G>C, XM_017004694.2:c.*94G>A, XM_017004694.1:c.*94G>C, XM_017004694.1:c.*94G>A

Select item 148975047113.

rs1489750471 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 2:237574410 (GRCh38)
2:238483053 (GRCh37)
Canonical SPDI:: NC_000002.12:237574409:T:
Gene:: RAB17 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
HGVS:: NC_000002.12:g.237574410del, NC_000002.11:g.238483053del, NM_022449.4:c.*609del, NM_022449.3:c.*609del, XM_006712689.3:c.*609del, XM_006712689.2:c.*609del, XM_006712689.1:c.*609del, NR_033308.2:n.1367del, NR_033308.1:n.1759del, XM_047445412.1:c.*547del, XM_047445413.1:c.*547del

Select item 148958968814.

rs1489589688 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:237575708 (GRCh38)
2:238484351 (GRCh37)
Canonical SPDI:: NC_000002.12:237575707:T:C
Gene:: RAB17 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.237575708T>C, NC_000002.11:g.238484351T>C, XM_017004693.3:c.*967A>G, XM_017004693.2:c.*967A>G, XM_017004693.1:c.*967A>G, XM_017004694.3:c.*967A>G, XM_017004694.2:c.*967A>G, XM_017004694.1:c.*967A>G

Select item 148931611515.

rs1489316115 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:237574378 (GRCh38)
2:238483021 (GRCh37)
Canonical SPDI:: NC_000002.12:237574377:T:G
Gene:: RAB17 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.237574378T>G, NC_000002.11:g.238483021T>G, NM_022449.4:c.*641A>C, NM_022449.3:c.*641A>C, XM_006712689.3:c.*641A>C, XM_006712689.2:c.*641A>C, XM_006712689.1:c.*641A>C, NR_033308.2:n.1399A>C, NR_033308.1:n.1791A>C, XM_047445412.1:c.*579A>C, XM_047445413.1:c.*579A>C

Select item 148914872316.

rs1489148723 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:237588502 (GRCh38)
2:238497145 (GRCh37)
Canonical SPDI:: NC_000002.12:237588501:G:A,NC_000002.12:237588501:G:C
Gene:: RAB17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.237588502G>A, NC_000002.12:g.237588502G>C, NC_000002.11:g.238497145G>A, NC_000002.11:g.238497145G>C

Select item 148906671517.

rs1489066715 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:237591217 (GRCh38)
2:238499860 (GRCh37)
Canonical SPDI:: NC_000002.12:237591216:C:A
Gene:: RAB17 (Varview), RAB17-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
HGVS:: NC_000002.12:g.237591217C>A, NC_000002.11:g.238499860C>A, XR_001739964.3:n.98C>A, XR_001739964.2:n.20C>A, XR_001739964.1:n.149C>A, XR_001739965.3:n.377C>A, XR_001739965.2:n.49C>A, XR_001739965.1:n.149C>A, XR_007088144.1:n.98C>A

Select item 148902307918.

rs1489023079 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:237575471 (GRCh38)
2:238484114 (GRCh37)
Canonical SPDI:: NC_000002.12:237575470:C:T
Gene:: RAB17 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.237575471C>T, NC_000002.11:g.238484114C>T, NM_022449.4:c.445G>A, NM_022449.3:c.445G>A, XM_006712689.3:c.379G>A, XM_006712689.2:c.379G>A, XM_006712689.1:c.379G>A, NR_033308.2:n.564G>A, NR_033308.1:n.956G>A, XM_047445412.1:c.473G>A, XM_047445413.1:c.407G>A, NP_071894.1:p.Glu149Lys, XP_006712752.1:p.Glu127Lys, XP_047301368.1:p.Gly158Glu, XP_047301369.1:p.Gly136Glu

Select item 148902205419.

rs1489022054 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:237590635 (GRCh38)
2:238499278 (GRCh37)
Canonical SPDI:: NC_000002.12:237590634:G:A
Gene:: RAB17 (Varview), RAB17-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000066/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.237590635G>A, NC_000002.11:g.238499278G>A, NM_022449.4:c.-172C>T, NM_022449.3:c.-172C>T, XM_017004693.3:c.-172C>T, XM_017004693.2:c.-172C>T, XM_017004693.1:c.-172C>T, XM_017004694.3:c.-172C>T, XM_017004694.2:c.-172C>T, XM_017004694.1:c.-172C>T, XM_006712689.3:c.-172C>T, XM_006712689.2:c.-172C>T, XM_006712689.1:c.-172C>T, NR_033308.2:n.100C>T, NR_033308.1:n.492C>T, XM_047445412.1:c.-172C>T, XM_047445413.1:c.-172C>T

Select item 148826428320.

rs1488264283 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:237581323 (GRCh38)
2:238489966 (GRCh37)
Canonical SPDI:: NC_000002.12:237581322:G:C
Gene:: RAB17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.237581323G>C, NC_000002.11:g.238489966G>C

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