SNP Links for Gene (Select 200942) - SNP

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Select item 14908057801.

rs1490805780 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:49169388 (GRCh38)
3:49206821 (GRCh37)
Canonical SPDI:: NC_000003.12:49169387:A:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.49169388A>T, NC_000003.11:g.49206821A>T, NG_027702.1:g.2804A>T

Select item 14907317222.

rs1490731722 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:49175158 (GRCh38)
3:49212591 (GRCh37)
Canonical SPDI:: NC_000003.12:49175157:G:A
Gene:: KLHDC8B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.49175158G>A, NC_000003.11:g.49212591G>A, NG_027702.1:g.8574G>A, NM_173546.3:c.863G>A, NM_173546.2:c.863G>A, XM_006713015.4:c.914G>A, XM_006713015.3:c.914G>A, XM_006713015.2:c.914G>A, XM_006713015.1:c.914G>A, XM_006713016.4:c.893G>A, XM_006713016.3:c.893G>A, XM_006713016.2:c.893G>A, XM_006713016.1:c.893G>A, XM_005264938.4:c.884G>A, XM_005264938.3:c.884G>A, XM_005264938.2:c.884G>A, XM_005264938.1:c.884G>A, NP_775817.1:p.Gly288Asp, XP_006713078.1:p.Gly305Asp, XP_006713079.1:p.Gly298Asp, XP_005264995.1:p.Gly295Asp

Select item 14903151203.

rs1490315120 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGACCTCTTCCCA>- [Show Flanks]
Chromosome:: 3:49170696 (GRCh38)
3:49208129 (GRCh37)
Canonical SPDI:: NC_000003.12:49170694:AGGACCTCTTCCCA:A
Gene:: KLHDC8B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000064/9 (GnomAD)
-=0.000068/18 (TOPMED)
HGVS:: NC_000003.12:g.49170696_49170708del, NC_000003.11:g.49208129_49208141del, NG_027702.1:g.4112_4124del

Select item 14898974854.

rs1489897485 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:49175647 (GRCh38)
3:49213080 (GRCh37)
Canonical SPDI:: NC_000003.12:49175646:T:G
Gene:: KLHDC8B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.49175647T>G, NC_000003.11:g.49213080T>G, NG_027702.1:g.9063T>G, NM_173546.3:c.911T>G, NM_173546.2:c.911T>G, XM_006713015.4:c.962T>G, XM_006713015.3:c.962T>G, XM_006713015.2:c.962T>G, XM_006713015.1:c.962T>G, XM_006713016.4:c.941T>G, XM_006713016.3:c.941T>G, XM_006713016.2:c.941T>G, XM_006713016.1:c.941T>G, XM_005264938.4:c.932T>G, XM_005264938.3:c.932T>G, XM_005264938.2:c.932T>G, XM_005264938.1:c.932T>G, NP_775817.1:p.Leu304Arg, XP_006713078.1:p.Leu321Arg, XP_006713079.1:p.Leu314Arg, XP_005264995.1:p.Leu311Arg

Select item 14892979805.

rs1489297980 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:49173074 (GRCh38)
3:49210507 (GRCh37)
Canonical SPDI:: NC_000003.12:49173073:T:C
Gene:: KLHDC8B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.49173074T>C, NC_000003.11:g.49210507T>C, NG_027702.1:g.6490T>C, NM_173546.3:c.305T>C, NM_173546.2:c.305T>C, XM_006713015.4:c.305T>C, XM_006713015.3:c.305T>C, XM_006713015.2:c.305T>C, XM_006713015.1:c.305T>C, XM_006713016.4:c.305T>C, XM_006713016.3:c.305T>C, XM_006713016.2:c.305T>C, XM_006713016.1:c.305T>C, XM_005264938.4:c.305T>C, XM_005264938.3:c.305T>C, XM_005264938.2:c.305T>C, XM_005264938.1:c.305T>C, NP_775817.1:p.Met102Thr, XP_006713078.1:p.Met102Thr, XP_006713079.1:p.Met102Thr, XP_005264995.1:p.Met102Thr

Select item 14886110686.

rs1488611068 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:49169923 (GRCh38)
3:49207356 (GRCh37)
Canonical SPDI:: NC_000003.12:49169922:G:T
Gene:: KLHDC8B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.49169923G>T, NC_000003.11:g.49207356G>T, NG_027702.1:g.3339G>T

Select item 14885790127.

rs1488579012 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:49169227 (GRCh38)
3:49206660 (GRCh37)
Canonical SPDI:: NC_000003.12:49169226:T:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.49169227T>G, NC_000003.11:g.49206660T>G, NG_027702.1:g.2643T>G

Select item 14880114588.

rs1488011458 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:49176664 (GRCh38)
3:49214097 (GRCh37)
Canonical SPDI:: NC_000003.12:49176663:T:C
Gene:: KLHDC8B (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.49176664T>C, NC_000003.11:g.49214097T>C, NG_027702.1:g.10080T>C

Select item 14875589009.

rs1487558900 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 3:49173362 (GRCh38)
3:49210795 (GRCh37)
Canonical SPDI:: NC_000003.12:49173361:G:A,NC_000003.12:49173361:G:C,NC_000003.12:49173361:G:T
Gene:: KLHDC8B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.00004/1 (TOMMO)
HGVS:: NC_000003.12:g.49173362G>A, NC_000003.12:g.49173362G>C, NC_000003.12:g.49173362G>T, NC_000003.11:g.49210795G>A, NC_000003.11:g.49210795G>C, NC_000003.11:g.49210795G>T, NG_027702.1:g.6778G>A, NG_027702.1:g.6778G>C, NG_027702.1:g.6778G>T

Select item 148752755410.

rs1487527554 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:49172059 (GRCh38)
3:49209492 (GRCh37)
Canonical SPDI:: NC_000003.12:49172058:G:C
Gene:: KLHDC8B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000054/1 (ALFA)
C=0.000023/6 (TOPMED)
C=0.000029/4 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.49172059G>C, NC_000003.11:g.49209492G>C, NG_027702.1:g.5475G>C

Select item 148690827411.

rs1486908274 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:49176115 (GRCh38)
3:49213548 (GRCh37)
Canonical SPDI:: NC_000003.12:49176114:A:G
Gene:: KLHDC8B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.49176115A>G, NC_000003.11:g.49213548A>G, NG_027702.1:g.9531A>G, NM_173546.3:c.*314A>G, NM_173546.2:c.*314A>G, XM_006713015.4:c.*314A>G, XM_006713015.3:c.*314A>G, XM_006713015.2:c.*314A>G, XM_006713015.1:c.*314A>G, XM_006713016.4:c.*314A>G, XM_006713016.3:c.*314A>G, XM_006713016.2:c.*314A>G, XM_006713016.1:c.*314A>G, XM_005264938.4:c.*314A>G, XM_005264938.3:c.*314A>G, XM_005264938.2:c.*314A>G, XM_005264938.1:c.*314A>G

Select item 148655419912.

rs1486554199 [Homo sapiens]

Variant type:: INS
Alleles:: ->CG [Show Flanks]
Chromosome:: 3:49171971 (GRCh38)
3:49209405 (GRCh37)
Canonical SPDI:: NC_000003.12:49171971::CG
Gene:: KLHDC8B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CG=0./0 (ALFA)
CG=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.49171971_49171972insCG, NC_000003.11:g.49209404_49209405insCG, NG_027702.1:g.5387_5388insCG

Select item 148629717213.

rs1486297172 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:49176637 (GRCh38)
3:49214070 (GRCh37)
Canonical SPDI:: NC_000003.12:49176636:C:T
Gene:: KLHDC8B (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000003.12:g.49176637C>T, NC_000003.11:g.49214070C>T, NG_027702.1:g.10053C>T

Select item 148566027414.

rs1485660274 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:49169404 (GRCh38)
3:49206837 (GRCh37)
Canonical SPDI:: NC_000003.12:49169403:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.49169404G>A, NC_000003.11:g.49206837G>A, NG_027702.1:g.2820G>A

Select item 148553103915.

rs1485531039 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:49170422 (GRCh38)
3:49207855 (GRCh37)
Canonical SPDI:: NC_000003.12:49170421:G:A
Gene:: KLHDC8B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.49170422G>A, NC_000003.11:g.49207855G>A, NG_027702.1:g.3838G>A

Select item 148540631316.

rs1485406313 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTT>- [Show Flanks]
Chromosome:: 3:49175732 (GRCh38)
3:49213165 (GRCh37)
Canonical SPDI:: NC_000003.12:49175727:TGTTTGTT:TGTT
Gene:: KLHDC8B (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.49175728TGTT[1], NC_000003.11:g.49213161TGTT[1], NG_027702.1:g.9144TGTT[1], NM_173546.3:c.996_999del, NM_173546.2:c.996_999del, XM_006713015.4:c.1047_1050del, XM_006713015.3:c.1047_1050del, XM_006713015.2:c.1047_1050del, XM_006713015.1:c.1047_1050del, XM_006713016.4:c.1026_1029del, XM_006713016.3:c.1026_1029del, XM_006713016.2:c.1026_1029del, XM_006713016.1:c.1026_1029del, XM_005264938.4:c.1017_1020del, XM_005264938.3:c.1017_1020del, XM_005264938.2:c.1017_1020del, XM_005264938.1:c.1017_1020del, NP_775817.1:p.Phe332fs, XP_006713078.1:p.Phe349fs, XP_006713079.1:p.Phe342fs, XP_005264995.1:p.Phe339fs

Select item 148518335717.

rs1485183357 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:49173120 (GRCh38)
3:49210553 (GRCh37)
Canonical SPDI:: NC_000003.12:49173119:C:A
Gene:: KLHDC8B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.49173120C>A, NC_000003.11:g.49210553C>A, NG_027702.1:g.6536C>A, NM_173546.3:c.351C>A, NM_173546.2:c.351C>A, XM_006713015.4:c.351C>A, XM_006713015.3:c.351C>A, XM_006713015.2:c.351C>A, XM_006713015.1:c.351C>A, XM_006713016.4:c.351C>A, XM_006713016.3:c.351C>A, XM_006713016.2:c.351C>A, XM_006713016.1:c.351C>A, XM_005264938.4:c.351C>A, XM_005264938.3:c.351C>A, XM_005264938.2:c.351C>A, XM_005264938.1:c.351C>A

Select item 148456664918.

rs1484566649 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:49171024 (GRCh38)
3:49208457 (GRCh37)
Canonical SPDI:: NC_000003.12:49171023:A:G
Gene:: KLHDC8B (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_000003.12:g.49171024A>G, NC_000003.11:g.49208457A>G, NG_027702.1:g.4440A>G

Select item 148445612019.

rs1484456120 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:49170898 (GRCh38)
3:49208331 (GRCh37)
Canonical SPDI:: NC_000003.12:49170897:T:C
Gene:: KLHDC8B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.49170898T>C, NC_000003.11:g.49208331T>C, NG_027702.1:g.4314T>C