SNP Links for Gene (Select 55322) - SNP

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Select item 14915139001.

rs1491513900 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 5:31535023 (GRCh38)
5:31535131 (GRCh37)
Canonical SPDI:: NC_000005.10:31535023:T:TT
Gene:: C5orf22 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.31535024dup, NC_000005.9:g.31535131dup, NG_051574.1:g.2152dup, XM_011514062.4:c.293dup, XM_011514062.3:c.293dup, XM_011514062.2:c.293dup, XM_011514062.1:c.293dup, XM_017009607.2:c.293dup, XM_017009607.1:c.293dup, XP_011512364.1:p.Tyr99fs, XP_016865096.1:p.Tyr99fs

Select item 14913898842.

rs1491389884 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 5:31535027 (GRCh38)
5:31535134 (GRCh37)
Canonical SPDI:: NC_000005.10:31535022:ATATAT:ATAT
Gene:: C5orf22 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,stop_gained,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.31535023AT[2], NC_000005.9:g.31535130AT[2], NG_051574.1:g.2148AT[2], XM_011514062.4:c.296_297del, XM_011514062.3:c.296_297del, XM_011514062.2:c.296_297del, XM_011514062.1:c.296_297del, XM_017009607.2:c.296_297del, XM_017009607.1:c.296_297del, XP_011512364.1:p.Ile98_Tyr99insTer, XP_016865096.1:p.Ile98_Tyr99insTer

Select item 14910300353.

rs1491030035 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTAT [Show Flanks]
Chromosome:: 5:31541148 (GRCh38)
5:31541256 (GRCh37)
Canonical SPDI:: NC_000005.10:31541148:T:TGTAT
Gene:: C5orf22 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTAT=0./0 (ALFA)
TGTA=0.000015/4 (TOPMED)
TGTA=0.000023/3 (GnomAD)
HGVS:: NC_000005.10:g.31541149_31541150insGTAT, NC_000005.9:g.31541256_31541257insGTAT

Select item 14908292254.

rs1490829225 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:31544834 (GRCh38)
5:31544941 (GRCh37)
Canonical SPDI:: NC_000005.10:31544833:G:C
Gene:: C5orf22 (Varview)
Functional Consequence:: intron_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_000005.10:g.31544834G>C, NC_000005.9:g.31544941G>C

Select item 14908030375.

rs1490803037 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:31545990 (GRCh38)
5:31546097 (GRCh37)
Canonical SPDI:: NC_000005.10:31545989:C:T
Gene:: C5orf22 (Varview)
Functional Consequence:: intron_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_000005.10:g.31545990C>T, NC_000005.9:g.31546097C>T

Select item 14906641646.

rs1490664164 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:31545293 (GRCh38)
5:31545400 (GRCh37)
Canonical SPDI:: NC_000005.10:31545292:A:C
Gene:: C5orf22 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.31545293A>C, NC_000005.9:g.31545400A>C

Select item 14904825517.

rs1490482551 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 5:31553791 (GRCh38)
5:31553898 (GRCh37)
Canonical SPDI:: NC_000005.10:31553789:TGT:T
Gene:: C5orf22 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.31553791_31553792del, NC_000005.9:g.31553898_31553899del, XM_011514062.4:c.*889_*890del, XM_011514062.3:c.*889_*890del, XM_011514062.2:c.*889_*890del, XM_011514062.1:c.*889_*890del, XM_006714480.4:c.*889_*890del, XM_006714480.3:c.*889_*890del, XM_006714480.2:c.*889_*890del, XM_006714480.1:c.*889_*890del, XM_017009608.3:c.*889_*890del, XM_017009608.2:c.*889_*890del, XM_017009608.1:c.*889_*890del, NM_018356.3:c.*889_*890del, NM_018356.2:c.*889_*890del, XM_006714479.3:c.*889_*890del, XM_006714479.2:c.*889_*890del, XM_006714479.1:c.*889_*890del, XM_017009607.2:c.*889_*890del, XM_017009607.1:c.*889_*890del, XM_017009609.2:c.*889_*890del, XM_017009609.1:c.*889_*890del, NR_134298.2:n.2086_2087del, NR_134298.1:n.2121_2122del

Select item 14904027778.

rs1490402777 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:31537877 (GRCh38)
5:31537984 (GRCh37)
Canonical SPDI:: NC_000005.10:31537876:T:C
Gene:: C5orf22 (Varview)
Functional Consequence:: intron_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_000005.10:g.31537877T>C, NC_000005.9:g.31537984T>C

Select item 14903718469.

rs1490371846 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:31536739 (GRCh38)
5:31536846 (GRCh37)
Canonical SPDI:: NC_000005.10:31536738:A:G
Gene:: C5orf22 (Varview)
Functional Consequence:: intron_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_000005.10:g.31536739A>G, NC_000005.9:g.31536846A>G, NG_051574.1:g.437T>C

Select item 149033689410.

rs1490336894 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:31544435 (GRCh38)
5:31544542 (GRCh37)
Canonical SPDI:: NC_000005.10:31544434:T:C
Gene:: C5orf22 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.31544435T>C, NC_000005.9:g.31544542T>C

Select item 149031155511.

rs1490311555 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:31545441 (GRCh38)
5:31545548 (GRCh37)
Canonical SPDI:: NC_000005.10:31545440:A:T
Gene:: C5orf22 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.31545441A>T, NC_000005.9:g.31545548A>T

Select item 149018291912.

rs1490182919 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:31553912 (GRCh38)
5:31554019 (GRCh37)
Canonical SPDI:: NC_000005.10:31553911:C:G
Gene:: C5orf22 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.31553912C>G, NC_000005.9:g.31554019C>G, XM_011514062.4:c.*1010C>G, XM_011514062.3:c.*1010C>G, XM_011514062.2:c.*1010C>G, XM_011514062.1:c.*1010C>G, XM_006714480.4:c.*1010C>G, XM_006714480.3:c.*1010C>G, XM_006714480.2:c.*1010C>G, XM_006714480.1:c.*1010C>G, XM_017009608.3:c.*1010C>G, XM_017009608.2:c.*1010C>G, XM_017009608.1:c.*1010C>G, NM_018356.3:c.*1010C>G, NM_018356.2:c.*1010C>G, XM_006714479.3:c.*1010C>G, XM_006714479.2:c.*1010C>G, XM_006714479.1:c.*1010C>G, XM_017009607.2:c.*1010C>G, XM_017009607.1:c.*1010C>G, XM_017009609.2:c.*1010C>G, XM_017009609.1:c.*1010C>G, NR_134298.2:n.2207C>G, NR_134298.1:n.2242C>G

Select item 149001623913.

rs1490016239 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:31554510 (GRCh38)
5:31554617 (GRCh37)
Canonical SPDI:: NC_000005.10:31554509:A:G
Gene:: C5orf22 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.31554510A>G, NC_000005.9:g.31554617A>G, XM_011514062.4:c.*1608A>G, XM_011514062.3:c.*1608A>G, XM_011514062.2:c.*1608A>G, XM_011514062.1:c.*1608A>G, XM_006714480.4:c.*1608A>G, XM_006714480.3:c.*1608A>G, XM_006714480.2:c.*1608A>G, XM_006714480.1:c.*1608A>G, XM_017009608.3:c.*1608A>G, XM_017009608.2:c.*1608A>G, XM_017009608.1:c.*1608A>G, NM_018356.3:c.*1608A>G, NM_018356.2:c.*1608A>G, XM_006714479.3:c.*1608A>G, XM_006714479.2:c.*1608A>G, XM_006714479.1:c.*1608A>G, XM_017009607.2:c.*1608A>G, XM_017009607.1:c.*1608A>G, XM_017009609.2:c.*1608A>G, XM_017009609.1:c.*1608A>G, NR_134298.2:n.2805A>G, NR_134298.1:n.2840A>G

Select item 148993672814.

rs1489936728 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:31537466 (GRCh38)
5:31537573 (GRCh37)
Canonical SPDI:: NC_000005.10:31537465:T:C
Gene:: C5orf22 (Varview)
Functional Consequence:: intron_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_000005.10:g.31537466T>C, NC_000005.9:g.31537573T>C

Select item 148988529215.

rs1489885292 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:31553453 (GRCh38)
5:31553560 (GRCh37)
Canonical SPDI:: NC_000005.10:31553452:T:C
Gene:: C5orf22 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.31553453T>C, NC_000005.9:g.31553560T>C, XM_011514062.4:c.*551T>C, XM_011514062.3:c.*551T>C, XM_011514062.2:c.*551T>C, XM_011514062.1:c.*551T>C, XM_006714480.4:c.*551T>C, XM_006714480.3:c.*551T>C, XM_006714480.2:c.*551T>C, XM_006714480.1:c.*551T>C, XM_017009608.3:c.*551T>C, XM_017009608.2:c.*551T>C, XM_017009608.1:c.*551T>C, NM_018356.3:c.*551T>C, NM_018356.2:c.*551T>C, XM_006714479.3:c.*551T>C, XM_006714479.2:c.*551T>C, XM_006714479.1:c.*551T>C, XM_017009607.2:c.*551T>C, XM_017009607.1:c.*551T>C, XM_017009609.2:c.*551T>C, XM_017009609.1:c.*551T>C, NR_134298.2:n.1748T>C, NR_134298.1:n.1783T>C

Select item 148988052116.

rs1489880521 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:31536318 (GRCh38)
5:31536425 (GRCh37)
Canonical SPDI:: NC_000005.10:31536317:A:G
Gene:: C5orf22 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.31536318A>G, NC_000005.9:g.31536425A>G, NG_051574.1:g.858T>C

Select item 148957200917.

rs1489572009 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:31531916 (GRCh38)
5:31532023 (GRCh37)
Canonical SPDI:: NC_000005.10:31531915:C:T
Gene:: DROSHA (Varview), C5orf22 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000005.10:g.31531916C>T, NC_000005.9:g.31532023C>T, NG_051574.1:g.5260G>A

Select item 148942367018.

rs1489423670 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:31530499 (GRCh38)
5:31530606 (GRCh37)
Canonical SPDI:: NC_000005.10:31530498:G:A,NC_000005.10:31530498:G:C
Gene:: DROSHA (Varview), C5orf22 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.31530499G>A, NC_000005.10:g.31530499G>C, NC_000005.9:g.31530606G>A, NC_000005.9:g.31530606G>C, NG_051574.1:g.6677C>T, NG_051574.1:g.6677C>G

Select item 148939228719.

rs1489392287 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:31531556 (GRCh38)
5:31531663 (GRCh37)
Canonical SPDI:: NC_000005.10:31531555:T:G
Gene:: DROSHA (Varview), C5orf22 (Varview)
Functional Consequence:: intron_variant,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_000005.10:g.31531556T>G, NC_000005.9:g.31531663T>G, NG_051574.1:g.5620A>C

Select item 148906819920.

rs1489068199 [Homo sapiens]

Variant type:: SNV:
Alleles:: CACTGTGTTTGAC>-
Chromosome:: no mapping
Canonical SPDI:

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