SNP Links for Gene (Select 79786) - SNP

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Select item 14915720541.

rs1491572054 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAAA [Show Flanks]
Chromosome:: 16:84647296 (GRCh38)
16:84680903 (GRCh37)
Canonical SPDI:: NC_000016.10:84647296:AAA:AAATAAA
Gene:: KLHL36 (Varview), LOC105371376 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAATAAA=0./0 (ALFA)
AAAT=0.00002/2 (GnomAD)
HGVS:: NC_000016.10:g.84647299_84647300insTAAA, NC_000016.9:g.84680905_84680906insTAAA

Select item 14914901032.

rs1491490103 has merged into rs71151239 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 16:84656640 (GRCh38)
16:84690246 (GRCh37)
Canonical SPDI:: NC_000016.10:84656631:AAAAAAAAAAAAA:AAAAAAAA,NC_000016.10:84656631:AAAAAAAAAAAAA:AAAAAAAAA,NC_000016.10:84656631:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:84656631:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:84656631:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:84656631:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:84656631:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: KLHL36 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
A=0./0 (ALSPAC)
A=0./0 (TWINSUK)
A=0.00728/122 (TOMMO)
A=0.03061/18 (NorthernSweden)
A=0.075/3 (GENOME_DK)
HGVS:: NC_000016.10:g.84656640_84656644del, NC_000016.10:g.84656641_84656644del, NC_000016.10:g.84656642_84656644del, NC_000016.10:g.84656643_84656644del, NC_000016.10:g.84656644del, NC_000016.10:g.84656644dup, NC_000016.10:g.84656642_84656644dup, NC_000016.9:g.84690246_84690250del, NC_000016.9:g.84690247_84690250del, NC_000016.9:g.84690248_84690250del, NC_000016.9:g.84690249_84690250del, NC_000016.9:g.84690250del, NC_000016.9:g.84690250dup, NC_000016.9:g.84690248_84690250dup

Select item 14912285163.

rs1491228516 has merged into rs1201073577 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:84647300 (GRCh38)
16:84680906 (GRCh37)
Canonical SPDI:: NC_000016.10:84647295:AAAAAAAA:AAAA,NC_000016.10:84647295:AAAAAAAA:AAAAA,NC_000016.10:84647295:AAAAAAAA:AAAAAA,NC_000016.10:84647295:AAAAAAAA:AAAAAAA,NC_000016.10:84647295:AAAAAAAA:AAAAAAAAA,NC_000016.10:84647295:AAAAAAAA:AAAAAAAAAA,NC_000016.10:84647295:AAAAAAAA:AAAAAAAAAAA,NC_000016.10:84647295:AAAAAAAA:AAAAAAAAAAAA,NC_000016.10:84647295:AAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:84647295:AAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:84647295:AAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:84647295:AAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:84647295:AAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:84647295:AAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: KLHL36 (Varview), LOC105371376 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
-=0.00042/7 (TOMMO)
AAAAAAAAAAA=0.00186/1 (NorthernSweden)
HGVS:: NC_000016.10:g.84647300_84647303del, NC_000016.10:g.84647301_84647303del, NC_000016.10:g.84647302_84647303del, NC_000016.10:g.84647303del, NC_000016.10:g.84647303dup, NC_000016.10:g.84647302_84647303dup, NC_000016.10:g.84647301_84647303dup, NC_000016.10:g.84647300_84647303dup, NC_000016.10:g.84647299_84647303dup, NC_000016.10:g.84647298_84647303dup, NC_000016.10:g.84647297_84647303dup, NC_000016.10:g.84647296_84647303dup, NC_000016.10:g.84647303_84647304insAAAAAAAAA, NC_000016.10:g.84647303_84647304insAAAAAAAAAAA, NC_000016.9:g.84680906_84680909del, NC_000016.9:g.84680907_84680909del, NC_000016.9:g.84680908_84680909del, NC_000016.9:g.84680909del, NC_000016.9:g.84680909dup, NC_000016.9:g.84680908_84680909dup, NC_000016.9:g.84680907_84680909dup, NC_000016.9:g.84680906_84680909dup, NC_000016.9:g.84680905_84680909dup, NC_000016.9:g.84680904_84680909dup, NC_000016.9:g.84680903_84680909dup, NC_000016.9:g.84680902_84680909dup, NC_000016.9:g.84680909_84680910insAAAAAAAAA, NC_000016.9:g.84680909_84680910insAAAAAAAAAAA

Select item 14910776894.

rs1491077689 has merged into rs3086332 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
Chromosome:: 16:84665260 (GRCh38)
16:84698866 (GRCh37)
Canonical SPDI:: NC_000016.10:84665248:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:84665248:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:84665248:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:84665248:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:84665248:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: KLHL36 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.4987/1966 (1000Genomes)
HGVS:: NC_000016.10:g.84665260_84665261del, NC_000016.10:g.84665261del, NC_000016.10:g.84665261dup, NC_000016.10:g.84665260_84665261dup, NC_000016.10:g.84665259_84665261dup, NC_000016.9:g.84698866_84698867del, NC_000016.9:g.84698867del, NC_000016.9:g.84698867dup, NC_000016.9:g.84698866_84698867dup, NC_000016.9:g.84698865_84698867dup, NM_024731.4:c.*3127_*3128del, NM_024731.4:c.*3128del, NM_024731.4:c.*3128dup, NM_024731.4:c.*3127_*3128dup, NM_024731.4:c.*3126_*3128dup, NM_024731.3:c.*3127_*3128del, NM_024731.3:c.*3128del, NM_024731.3:c.*3128dup, NM_024731.3:c.*3127_*3128dup, NM_024731.3:c.*3126_*3128dup, XM_005256149.3:c.*3127_*3128del, XM_005256149.3:c.*3128del, XM_005256149.3:c.*3128dup, XM_005256149.3:c.*3127_*3128dup, XM_005256149.3:c.*3126_*3128dup, XM_005256149.2:c.*3127_*3128del, XM_005256149.2:c.*3128del, XM_005256149.2:c.*3128dup, XM_005256149.2:c.*3127_*3128dup, XM_005256149.2:c.*3126_*3128dup, XM_005256149.1:c.*3127_*3128del, XM_005256149.1:c.*3128del, XM_005256149.1:c.*3128dup, XM_005256149.1:c.*3127_*3128dup, XM_005256149.1:c.*3126_*3128dup, NM_001303451.2:c.*3127_*3128del, NM_001303451.2:c.*3128del, NM_001303451.2:c.*3128dup, NM_001303451.2:c.*3127_*3128dup, NM_001303451.2:c.*3126_*3128dup, NM_001303451.1:c.*3127_*3128del, NM_001303451.1:c.*3128del, NM_001303451.1:c.*3128dup, NM_001303451.1:c.*3127_*3128dup, NM_001303451.1:c.*3126_*3128dup, XM_047434649.1:c.*3127_*3128del, XM_047434649.1:c.*3128del, XM_047434649.1:c.*3128dup, XM_047434649.1:c.*3127_*3128dup, XM_047434649.1:c.*3126_*3128dup, XM_047434648.1:c.*3127_*3128del, XM_047434648.1:c.*3128del, XM_047434648.1:c.*3128dup, XM_047434648.1:c.*3127_*3128dup, XM_047434648.1:c.*3126_*3128dup

Select item 14910347825.

rs1491034782 has merged into rs67608719 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:84653849 (GRCh38)
16:84687455 (GRCh37)
Canonical SPDI:: NC_000016.10:84653840:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000016.10:84653840:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000016.10:84653840:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:84653840:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:84653840:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:84653840:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:84653840:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:84653840:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:84653840:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:84653840:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:84653840:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:84653840:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:84653840:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:84653840:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:84653840:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: KLHL36 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.2248/1126 (1000Genomes)
HGVS:: NC_000016.10:g.84653849_84653859del, NC_000016.10:g.84653850_84653859del, NC_000016.10:g.84653851_84653859del, NC_000016.10:g.84653852_84653859del, NC_000016.10:g.84653853_84653859del, NC_000016.10:g.84653854_84653859del, NC_000016.10:g.84653855_84653859del, NC_000016.10:g.84653856_84653859del, NC_000016.10:g.84653857_84653859del, NC_000016.10:g.84653858_84653859del, NC_000016.10:g.84653859del, NC_000016.10:g.84653859dup, NC_000016.10:g.84653858_84653859dup, NC_000016.10:g.84653857_84653859dup, NC_000016.10:g.84653856_84653859dup, NC_000016.9:g.84687455_84687465del, NC_000016.9:g.84687456_84687465del, NC_000016.9:g.84687457_84687465del, NC_000016.9:g.84687458_84687465del, NC_000016.9:g.84687459_84687465del, NC_000016.9:g.84687460_84687465del, NC_000016.9:g.84687461_84687465del, NC_000016.9:g.84687462_84687465del, NC_000016.9:g.84687463_84687465del, NC_000016.9:g.84687464_84687465del, NC_000016.9:g.84687465del, NC_000016.9:g.84687465dup, NC_000016.9:g.84687464_84687465dup, NC_000016.9:g.84687463_84687465dup, NC_000016.9:g.84687462_84687465dup

Select item 14909028486.

rs1490902848 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAC [Show Flanks]
Chromosome:: 16:84654765 (GRCh38)
16:84688372 (GRCh37)
Canonical SPDI:: NC_000016.10:84654765:ACAAC:ACAACAAC
Gene:: KLHL36 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACAACAAC=0.000142/2 (ALFA)
ACA=0.00005/7 (GnomAD)
ACA=0.000053/14 (TOPMED)
ACA=0.000156/1 (1000Genomes)
HGVS:: NC_000016.10:g.84654768_84654770dup, NC_000016.9:g.84688374_84688376dup

Select item 14908025397.

rs1490802539 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:84663968 (GRCh38)
16:84697574 (GRCh37)
Canonical SPDI:: NC_000016.10:84663967:G:A
Gene:: KLHL36 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.84663968G>A, NC_000016.9:g.84697574G>A, NM_024731.4:c.*1835G>A, NM_024731.3:c.*1835G>A, XM_005256149.3:c.*1835G>A, XM_005256149.2:c.*1835G>A, XM_005256149.1:c.*1835G>A, NM_001303451.2:c.*1835G>A, NM_001303451.1:c.*1835G>A, XM_047434649.1:c.*1835G>A, XM_047434648.1:c.*1835G>A

Select item 14907061918.

rs1490706191 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:84664720 (GRCh38)
16:84698326 (GRCh37)
Canonical SPDI:: NC_000016.10:84664719:C:G
Gene:: KLHL36 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.84664720C>G, NC_000016.9:g.84698326C>G, NM_024731.4:c.*2587C>G, NM_024731.3:c.*2587C>G, XM_005256149.3:c.*2587C>G, XM_005256149.2:c.*2587C>G, XM_005256149.1:c.*2587C>G, NM_001303451.2:c.*2587C>G, NM_001303451.1:c.*2587C>G, XM_047434649.1:c.*2587C>G, XM_047434648.1:c.*2587C>G

Select item 14906526509.

rs1490652650 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:84657505 (GRCh38)
16:84691111 (GRCh37)
Canonical SPDI:: NC_000016.10:84657504:A:G
Gene:: KLHL36 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.84657505A>G, NC_000016.9:g.84691111A>G, NM_024731.4:c.698A>G, NM_024731.3:c.698A>G, NM_024731.2:c.698A>G, XM_005256149.3:c.698A>G, XM_005256149.2:c.698A>G, XM_005256149.1:c.698A>G, NM_001303451.2:c.698A>G, NM_001303451.1:c.698A>G, XM_047434649.1:c.698A>G, XM_047434648.1:c.698A>G, XM_047434650.1:c.698A>G, NP_079007.2:p.Glu233Gly, XP_005256206.1:p.Glu233Gly, NP_001290380.1:p.Glu233Gly, XP_047290605.1:p.Glu233Gly, XP_047290604.1:p.Glu233Gly, XP_047290606.1:p.Glu233Gly

Select item 149064148610.

rs1490641486 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:84665683 (GRCh38)
16:84699289 (GRCh37)
Canonical SPDI:: NC_000016.10:84665682:C:A
Gene:: KLHL36 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.00007/1 (TOMMO)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000016.10:g.84665683C>A, NC_000016.9:g.84699289C>A, NM_024731.4:c.*3550C>A, NM_024731.3:c.*3550C>A, XM_005256149.3:c.*3550C>A, XM_005256149.2:c.*3550C>A, XM_005256149.1:c.*3550C>A, NM_001303451.2:c.*3550C>A, NM_001303451.1:c.*3550C>A, XM_047434649.1:c.*3550C>A, XM_047434648.1:c.*3550C>A

Select item 149063647111.

rs1490636471 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:84647622 (GRCh38)
16:84681228 (GRCh37)
Canonical SPDI:: NC_000016.10:84647621:T:A
Gene:: KLHL36 (Varview), LOC105371376 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.84647622T>A, NC_000016.9:g.84681228T>A

Select item 149061637312.

rs1490616373 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 16:84663902 (GRCh38)
16:84697508 (GRCh37)
Canonical SPDI:: NC_000016.10:84663901:G:A,NC_000016.10:84663901:G:C,NC_000016.10:84663901:G:T
Gene:: KLHL36 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.00004/1 (TOMMO)
HGVS:: NC_000016.10:g.84663902G>A, NC_000016.10:g.84663902G>C, NC_000016.10:g.84663902G>T, NC_000016.9:g.84697508G>A, NC_000016.9:g.84697508G>C, NC_000016.9:g.84697508G>T, NM_024731.4:c.*1769G>A, NM_024731.4:c.*1769G>C, NM_024731.4:c.*1769G>T, NM_024731.3:c.*1769G>A, NM_024731.3:c.*1769G>C, NM_024731.3:c.*1769G>T, XM_005256149.3:c.*1769G>A, XM_005256149.3:c.*1769G>C, XM_005256149.3:c.*1769G>T, XM_005256149.2:c.*1769G>A, XM_005256149.2:c.*1769G>C, XM_005256149.2:c.*1769G>T, XM_005256149.1:c.*1769G>A, XM_005256149.1:c.*1769G>C, XM_005256149.1:c.*1769G>T, NM_001303451.2:c.*1769G>A, NM_001303451.2:c.*1769G>C, NM_001303451.2:c.*1769G>T, NM_001303451.1:c.*1769G>A, NM_001303451.1:c.*1769G>C, NM_001303451.1:c.*1769G>T, XM_047434649.1:c.*1769G>A, XM_047434649.1:c.*1769G>C, XM_047434649.1:c.*1769G>T, XM_047434648.1:c.*1769G>A, XM_047434648.1:c.*1769G>C, XM_047434648.1:c.*1769G>T

Select item 149053157913.

rs1490531579 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:84648408 (GRCh38)
16:84682014 (GRCh37)
Canonical SPDI:: NC_000016.10:84648407:C:A,NC_000016.10:84648407:C:T
Gene:: KLHL36 (Varview), LOC105371376 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.84648408C>A, NC_000016.10:g.84648408C>T, NC_000016.9:g.84682014C>A, NC_000016.9:g.84682014C>T

Select item 149051006214.

rs1490510062 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:84651351 (GRCh38)
16:84684957 (GRCh37)
Canonical SPDI:: NC_000016.10:84651350:G:C
Gene:: KLHL36 (Varview), LOC105371376 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000016.10:g.84651351G>C, NC_000016.9:g.84684957G>C

Select item 149034292715.

rs1490342927 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:84650436 (GRCh38)
16:84684042 (GRCh37)
Canonical SPDI:: NC_000016.10:84650435:A:G
Gene:: KLHL36 (Varview), LOC105371376 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.84650436A>G, NC_000016.9:g.84684042A>G

Select item 149032583616.

rs1490325836 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:84657023 (GRCh38)
16:84690629 (GRCh37)
Canonical SPDI:: NC_000016.10:84657022:C:G
Gene:: KLHL36 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.84657023C>G, NC_000016.9:g.84690629C>G, NM_024731.4:c.216C>G, NM_024731.3:c.216C>G, NM_024731.2:c.216C>G, XM_005256149.3:c.216C>G, XM_005256149.2:c.216C>G, XM_005256149.1:c.216C>G, NM_001303451.2:c.216C>G, NM_001303451.1:c.216C>G, XM_047434649.1:c.216C>G, XM_047434648.1:c.216C>G, XM_047434650.1:c.216C>G, NP_079007.2:p.Asn72Lys, XP_005256206.1:p.Asn72Lys, NP_001290380.1:p.Asn72Lys, XP_047290605.1:p.Asn72Lys, XP_047290604.1:p.Asn72Lys, XP_047290606.1:p.Asn72Lys

Select item 149005525717.

rs1490055257 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 16:84649181 (GRCh38)
16:84682787 (GRCh37)
Canonical SPDI:: NC_000016.10:84649180:GGGGG:GGGG
Gene:: KLHL36 (Varview), LOC105371376 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.84649185del, NC_000016.9:g.84682791del

Select item 148982562118.

rs1489825621 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>- [Show Flanks]
Chromosome:: 16:84664769 (GRCh38)
16:84698375 (GRCh37)
Canonical SPDI:: NC_000016.10:84664766:TTTTT:TT
Gene:: KLHL36 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.84664769_84664771del, NC_000016.9:g.84698375_84698377del, NM_024731.4:c.*2636_*2638del, NM_024731.3:c.*2636_*2638del, XM_005256149.3:c.*2636_*2638del, XM_005256149.2:c.*2636_*2638del, XM_005256149.1:c.*2636_*2638del, NM_001303451.2:c.*2636_*2638del, NM_001303451.1:c.*2636_*2638del, XM_047434649.1:c.*2636_*2638del, XM_047434648.1:c.*2636_*2638del

Select item 148980119519.

rs1489801195 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:84654342 (GRCh38)
16:84687948 (GRCh37)
Canonical SPDI:: NC_000016.10:84654341:C:A
Gene:: KLHL36 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.84654342C>A, NC_000016.9:g.84687948C>A

Select item 148960798520.

rs1489607985 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 16:84666425 (GRCh38)
16:84700031 (GRCh37)
Canonical SPDI:: NC_000016.10:84666424:CCCCC:CCCC
Gene:: KLHL36 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CCCC=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.84666429del, NC_000016.9:g.84700035del, NM_024731.4:c.*4296del, NM_024731.3:c.*4296del, XM_005256149.3:c.*4296del, XM_005256149.2:c.*4296del, XM_005256149.1:c.*4296del, NM_001303451.2:c.*4296del, NM_001303451.1:c.*4296del, XM_047434649.1:c.*4296del, XM_047434648.1:c.*4296del

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