RAB42 - SNP

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Select item 23183711.

rs2318371 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:28595159 (GRCh38)
1:28921671 (GRCh37)
Canonical SPDI:: NC_000001.11:28595158:A:C,NC_000001.11:28595158:A:G
Gene:: RAB42 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0./0 (HapMap)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.28595159A>C, NC_000001.11:g.28595159A>G, NC_000001.10:g.28921671A>C, NC_000001.10:g.28921671A>G, NM_001193532.3:c.*1042A>C, NM_001193532.3:c.*1042A>G, NM_001193532.2:c.*1042A>C, NM_001193532.2:c.*1042A>G, NM_152304.3:c.*1042A>C, NM_152304.3:c.*1042A>G, NM_152304.2:c.*1042A>C, NM_152304.2:c.*1042A>G, XM_047443959.1:c.*1042A>C, XM_047443959.1:c.*1042A>G

Select item 23183722.

rs2318372 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:28595219 (GRCh38)
1:28921731 (GRCh37)
Canonical SPDI:: NC_000001.11:28595218:T:C
Gene:: RAB42 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0./0 (HapMap)
HGVS:: NC_000001.11:g.28595219T>C, NC_000001.10:g.28921731T>C, NM_001193532.3:c.*1102T>C, NM_001193532.2:c.*1102T>C, NM_152304.3:c.*1102T>C, NM_152304.2:c.*1102T>C, XM_047443959.1:c.*1102T>C

Select item 46543103.

rs4654310 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:28591407 (GRCh38)
1:28917919 (GRCh37)
Canonical SPDI:: NC_000001.11:28591406:C:T
Gene:: RAB42 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.094336/1782 (ALFA)
T=0.000035/1 (TOMMO)
T=0.013333/8 (NorthernSweden)
T=0.05/2 (GENOME_DK)
T=0.054108/54 (GoNL)
T=0.060949/226 (TWINSUK)
T=0.070317/271 (ALSPAC)
T=0.070759/317 (Estonian)
T=0.10431/522 (1000Genomes)
T=0.111111/24 (Qatari)
T=0.11137/15564 (GnomAD)
T=0.111995/29644 (TOPMED)
C=0.471429/33 (SGDP_PRJ)
C=0.5/3 (Siberian)
HGVS:: NC_000001.11:g.28591407C>T, NC_000001.10:g.28917919C>T

Select item 46543414.

rs4654341 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:28594687 (GRCh38)
1:28921199 (GRCh37)
Canonical SPDI:: NC_000001.11:28594686:A:C
Gene:: RAB42 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.25172/4755 (ALFA)
C=0.066884/1121 (TOMMO)
C=0.068446/200 (KOREAN)
C=0.086245/158 (Korea1K)
C=0.090476/19 (Vietnamese)
C=0.160056/802 (1000Genomes)
C=0.212963/46 (Qatari)
C=0.217114/57468 (TOPMED)
C=0.222755/31196 (GnomAD)
C=0.255511/255 (GoNL)
C=0.268552/1035 (ALSPAC)
C=0.286677/1063 (TWINSUK)
C=0.299625/160 (MGP)
C=0.335/201 (NorthernSweden)
A=0.449495/89 (SGDP_PRJ)
HGVS:: NC_000001.11:g.28594687A>C, NC_000001.10:g.28921199A>C, NM_001193532.3:c.*570A>C, NM_001193532.2:c.*570A>C, NM_152304.3:c.*570A>C, NM_152304.2:c.*570A>C, XM_047443959.1:c.*570A>C

Select item 94262855.

rs9426285 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:28590743 (GRCh38)
1:28917255 (GRCh37)
Canonical SPDI:: NC_000001.11:28590742:C:T
Gene:: RAB42 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.205633/3884 (ALFA)
T=0.010616/178 (TOMMO)
T=0.013889/3 (Vietnamese)
T=0.014738/27 (Korea1K)
T=0.017112/50 (KOREAN)
T=0.106027/531 (1000Genomes)
T=0.12963/28 (Qatari)
T=0.171204/45316 (TOPMED)
T=0.175/7 (GENOME_DK)
T=0.177151/24760 (GnomAD)
T=0.222445/222 (GoNL)
T=0.228334/880 (ALSPAC)
T=0.235373/1054 (Estonian)
T=0.245685/911 (TWINSUK)
T=0.27/162 (NorthernSweden)
C=0.470149/63 (SGDP_PRJ)
C=0.5/6 (Siberian)
HGVS:: NC_000001.11:g.28590743C>T, NC_000001.10:g.28917255C>T

Select item 118008996.

rs11800899 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:28592015 (GRCh38)
1:28918527 (GRCh37)
Canonical SPDI:: NC_000001.11:28592014:G:A
Gene:: RAB42 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00974/161 (ALFA)
A=0./0 (TWINSUK)
A=0.000778/3 (ALSPAC)
A=0.005309/27 (1000Genomes)
A=0.009259/2 (Qatari)
A=0.009437/1323 (GnomAD)
A=0.009925/2627 (TOPMED)
A=0.010989/10 (HapMap)
A=0.013952/1098 (PAGE_STUDY)
G=0.5/2 (SGDP_PRJ)
HGVS:: NC_000001.11:g.28592015G>A, NC_000001.10:g.28918527G>A

Select item 120653737.

rs12065373 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:28594083 (GRCh38)
1:28920595 (GRCh37)
Canonical SPDI:: NC_000001.11:28594082:G:A,NC_000001.11:28594082:G:C
Gene:: RAB42 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (HapMap)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
C=0.000018/2 (ExAC)
HGVS:: NC_000001.11:g.28594083G>A, NC_000001.11:g.28594083G>C, NC_000001.10:g.28920595G>A, NC_000001.10:g.28920595G>C, NM_001193532.3:c.623G>A, NM_001193532.3:c.623G>C, NM_001193532.2:c.623G>A, NM_001193532.2:c.623G>C, NM_001193532.1:c.623G>A, NM_001193532.1:c.623G>C, NM_152304.3:c.284G>A, NM_152304.3:c.284G>C, NM_152304.2:c.284G>A, NM_152304.2:c.284G>C, NM_152304.1:c.284G>A, NM_152304.1:c.284G>C, XM_047443959.1:c.284G>A, XM_047443959.1:c.284G>C, NP_001180461.1:p.Ser208Asn, NP_001180461.1:p.Ser208Thr, NP_689517.1:p.Ser95Asn, NP_689517.1:p.Ser95Thr, XP_047299915.1:p.Ser95Asn, XP_047299915.1:p.Ser95Thr

Select item 120691488.

rs12069148 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:28593360 (GRCh38)
1:28919872 (GRCh37)
Canonical SPDI:: NC_000001.11:28593359:C:G,NC_000001.11:28593359:C:T
Gene:: RAB42 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.014528/255 (ALFA)
C=0./0 (Siberian)
T=0.000035/1 (TOMMO)
T=0.000546/1 (Korea1K)
T=0.025/1 (GENOME_DK)
T=0.03192/143 (Estonian)
T=0.035/21 (NorthernSweden)
T=0.038026/141 (TWINSUK)
T=0.04008/40 (GoNL)
T=0.041667/9 (Qatari)
T=0.046705/180 (ALSPAC)
T=0.04747/238 (1000Genomes)
T=0.057989/15349 (TOPMED)
C=0.454545/10 (SGDP_PRJ)
HGVS:: NC_000001.11:g.28593360C>G, NC_000001.11:g.28593360C>T, NC_000001.10:g.28919872C>G, NC_000001.10:g.28919872C>T

Select item 121239319.

rs12123931 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:28592480 (GRCh38)
1:28918992 (GRCh37)
Canonical SPDI:: NC_000001.11:28592479:C:G
Gene:: RAB42 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.256751/4754 (ALFA)
G=0.065325/1094 (TOMMO)
G=0.067618/180 (KOREAN)
G=0.088335/156 (Korea1K)
G=0.167083/837 (1000Genomes)
G=0.221316/58580 (TOPMED)
G=0.230167/31834 (GnomAD)
G=0.236111/51 (Qatari)
G=0.270887/1044 (ALSPAC)
G=0.275/11 (GENOME_DK)
G=0.286677/1063 (TWINSUK)
G=0.294013/1316 (Estonian)
G=0.332258/103 (GnomAD_exomes)
G=0.338333/203 (NorthernSweden)
C=0.444444/8 (Siberian)
C=0.452632/86 (SGDP_PRJ)
HGVS:: NC_000001.11:g.28592480C>G, NC_000001.10:g.28918992C>G, NM_001193532.3:c.-32C>G, NM_001385188.1:c.-32C>G

Select item 3537269810.

rs35372698 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:28596078 (GRCh38)
1:28922591 (GRCh37)
Canonical SPDI:: NC_000001.11:28596078:CCCC:CCCCC
Gene:: RAB42 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000001.11:g.28596082dup, NC_000001.10:g.28922594dup

Select item 3614620311.

rs36146203 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 1:28592523 (GRCh38)
1:28919035 (GRCh37)
Canonical SPDI:: NC_000001.11:28592522:GGG:GG
Gene:: RAB42 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000324/45 (GnomAD)
-=0.000404/107 (TOPMED)
HGVS:: NC_000001.11:g.28592525del, NC_000001.10:g.28919037del, NM_001193532.3:c.14del, NM_001193532.2:c.14del, NM_001193532.1:c.14del, NM_001385188.1:c.14del, NP_001180461.1:p.Gly5fs, NP_001372117.1:p.Gly5fs

Select item 5587004112.

rs55870041 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:28594245 (GRCh38)
1:28920757 (GRCh37)
Canonical SPDI:: NC_000001.11:28594244:T:C,NC_000001.11:28594244:T:G
Gene:: RAB42 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.28594245T>C, NC_000001.11:g.28594245T>G, NC_000001.10:g.28920757T>C, NC_000001.10:g.28920757T>G, NM_001193532.3:c.*128T>C, NM_001193532.3:c.*128T>G, NM_001193532.2:c.*128T>C, NM_001193532.2:c.*128T>G, NM_001193532.1:c.*128T>C, NM_001193532.1:c.*128T>G, NM_152304.3:c.*128T>C, NM_152304.3:c.*128T>G, NM_152304.2:c.*128T>C, NM_152304.2:c.*128T>G, NM_152304.1:c.*128T>C, NM_152304.1:c.*128T>G, XM_047443959.1:c.*128T>C, XM_047443959.1:c.*128T>G

Select item 5596461613.

rs55964616 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:28594915 (GRCh38)
1:28921427 (GRCh37)
Canonical SPDI:: NC_000001.11:28594914:G:A
Gene:: RAB42 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.28594915G>A, NC_000001.10:g.28921427G>A, NM_001193532.3:c.*798G>A, NM_001193532.2:c.*798G>A, NM_152304.3:c.*798G>A, NM_152304.2:c.*798G>A, XM_047443959.1:c.*798G>A

Select item 5608354214.

rs56083542 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:28593747 (GRCh38)
1:28920259 (GRCh37)
Canonical SPDI:: NC_000001.11:28593746:A:G
Gene:: RAB42 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,5_prime_UTR_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.28593747A>G, NC_000001.10:g.28920259A>G, NM_001193532.3:c.287A>G, NM_001193532.2:c.287A>G, NM_001193532.1:c.287A>G, NM_152304.3:c.-53A>G, NM_152304.2:c.-53A>G, NM_152304.1:c.-53A>G, XM_047443959.1:c.-53A>G, NP_001180461.1:p.Asp96Gly

Select item 5720301115.

rs57203011 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:28597027 (GRCh38)
1:28923539 (GRCh37)
Canonical SPDI:: NC_000001.11:28597026:G:A
Gene:: RAB42 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.28597027G>A, NC_000001.10:g.28923539G>A

Select item 6178602516.

rs61786025 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:28593169 (GRCh38)
1:28919681 (GRCh37)
Canonical SPDI:: NC_000001.11:28593168:C:T
Gene:: RAB42 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.003335/64 (ALFA)
T=0.000035/1 (TOMMO)
T=0.001093/5 (1000Genomes)
T=0.001563/7 (Estonian)
T=0.001816/7 (ALSPAC)
T=0.002349/329 (GnomAD)
T=0.002357/624 (TOPMED)
T=0.003776/14 (TWINSUK)
T=0.00463/1 (Qatari)
T=0.006012/6 (GoNL)
C=0.5/2 (SGDP_PRJ)
HGVS:: NC_000001.11:g.28593169C>T, NC_000001.10:g.28919681C>T

Select item 7406502817.

rs74065028 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:28593594 (GRCh38)
1:28920106 (GRCh37)
Canonical SPDI:: NC_000001.11:28593593:G:A
Gene:: RAB42 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000498/7 (ALFA)
A=0.000781/4 (1000Genomes)
A=0.000806/113 (GnomAD)
A=0.000865/229 (TOPMED)
HGVS:: NC_000001.11:g.28593594G>A, NC_000001.10:g.28920106G>A

Select item 7406502918.

rs74065029 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:28595205 (GRCh38)
1:28921717 (GRCh37)
Canonical SPDI:: NC_000001.11:28595204:C:T
Gene:: RAB42 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.001803/26 (ALFA)
T=0.002967/15 (1000Genomes)
T=0.003106/822 (TOPMED)
T=0.003188/447 (GnomAD)
C=0.5/3 (SGDP_PRJ)
HGVS:: NC_000001.11:g.28595205C>T, NC_000001.10:g.28921717C>T, NM_001193532.3:c.*1088C>T, NM_001193532.2:c.*1088C>T, NM_152304.3:c.*1088C>T, NM_152304.2:c.*1088C>T, XM_047443959.1:c.*1088C>T

Select item 7498751519.

rs74987515 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:28596195 (GRCh38)
1:28922707 (GRCh37)
Canonical SPDI:: NC_000001.11:28596194:C:G,NC_000001.11:28596194:C:T
Gene:: RAB42 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00288/54 (ALFA)
G=0.00406/20 (1000Genomes)
G=0.00463/1 (Qatari)
G=0.00501/5 (GoNL)
G=0.00649/25 (ALSPAC)
G=0.00728/27 (TWINSUK)
G=0.00781/35 (Estonian)
G=0.00833/5 (NorthernSweden)
C=0.5/2 (SGDP_PRJ)
HGVS:: NC_000001.11:g.28596195C>G, NC_000001.11:g.28596195C>T, NC_000001.10:g.28922707C>G, NC_000001.10:g.28922707C>T

Select item 7535526520.

rs75355265 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:28595241 (GRCh38)
1:28921753 (GRCh37)
Canonical SPDI:: NC_000001.11:28595240:G:T
Gene:: RAB42 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
HGVS:: NC_000001.11:g.28595241G>T, NC_000001.10:g.28921753G>T, NM_001193532.3:c.*1124G>T, NM_001193532.2:c.*1124G>T, NM_152304.3:c.*1124G>T, NM_152304.2:c.*1124G>T, XM_047443959.1:c.*1124G>T

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