SNP Links for Gene (Select 9662) - SNP

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Select item 14915829171.

rs1491582917 has merged into rs60103294 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:55960937 (GRCh38)
4:56827103 (GRCh37)
Canonical SPDI:: NC_000004.12:55960925:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:55960925:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:55960925:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:55960925:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:55960925:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:55960925:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:55960925:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:55960925:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:55960925:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:55960925:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:55960925:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:55960925:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:55960925:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:55960925:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:55960925:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:55960925:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:55960925:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:55960925:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:55960925:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:55960925:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:55960925:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:55960925:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CEP135 (Varview), LOC124900705 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000004.12:g.55960937_55960949del, NC_000004.12:g.55960939_55960949del, NC_000004.12:g.55960940_55960949del, NC_000004.12:g.55960942_55960949del, NC_000004.12:g.55960943_55960949del, NC_000004.12:g.55960944_55960949del, NC_000004.12:g.55960945_55960949del, NC_000004.12:g.55960947_55960949del, NC_000004.12:g.55960948_55960949del, NC_000004.12:g.55960949del, NC_000004.12:g.55960949dup, NC_000004.12:g.55960948_55960949dup, NC_000004.12:g.55960947_55960949dup, NC_000004.12:g.55960945_55960949dup, NC_000004.12:g.55960944_55960949dup, NC_000004.12:g.55960943_55960949dup, NC_000004.12:g.55960942_55960949dup, NC_000004.12:g.55960941_55960949dup, NC_000004.12:g.55960940_55960949dup, NC_000004.12:g.55960939_55960949dup, NC_000004.12:g.55960938_55960949dup, NC_000004.12:g.55960936_55960949dup, NC_000004.11:g.56827103_56827115del, NC_000004.11:g.56827105_56827115del, NC_000004.11:g.56827106_56827115del, NC_000004.11:g.56827108_56827115del, NC_000004.11:g.56827109_56827115del, NC_000004.11:g.56827110_56827115del, NC_000004.11:g.56827111_56827115del, NC_000004.11:g.56827113_56827115del, NC_000004.11:g.56827114_56827115del, NC_000004.11:g.56827115del, NC_000004.11:g.56827115dup, NC_000004.11:g.56827114_56827115dup, NC_000004.11:g.56827113_56827115dup, NC_000004.11:g.56827111_56827115dup, NC_000004.11:g.56827110_56827115dup, NC_000004.11:g.56827109_56827115dup, NC_000004.11:g.56827108_56827115dup, NC_000004.11:g.56827107_56827115dup, NC_000004.11:g.56827106_56827115dup, NC_000004.11:g.56827105_56827115dup, NC_000004.11:g.56827104_56827115dup, NC_000004.11:g.56827102_56827115dup, NG_032806.1:g.17130_17142del, NG_032806.1:g.17132_17142del, NG_032806.1:g.17133_17142del, NG_032806.1:g.17135_17142del, NG_032806.1:g.17136_17142del, NG_032806.1:g.17137_17142del, NG_032806.1:g.17138_17142del, NG_032806.1:g.17140_17142del, NG_032806.1:g.17141_17142del, NG_032806.1:g.17142del, NG_032806.1:g.17142dup, NG_032806.1:g.17141_17142dup, NG_032806.1:g.17140_17142dup, NG_032806.1:g.17138_17142dup, NG_032806.1:g.17137_17142dup, NG_032806.1:g.17136_17142dup, NG_032806.1:g.17135_17142dup, NG_032806.1:g.17134_17142dup, NG_032806.1:g.17133_17142dup, NG_032806.1:g.17132_17142dup, NG_032806.1:g.17131_17142dup, NG_032806.1:g.17129_17142dup

Select item 14915562812.

rs1491556281 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 4:56011559 (GRCh38)
4:56877725 (GRCh37)
Canonical SPDI:: NC_000004.12:56011558:GT:
Gene:: CEP135 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000075/12 (GnomAD_exomes)
HGVS:: NC_000004.12:g.56011559_56011560del, NC_000004.11:g.56877725_56877726del, NG_032806.1:g.67752_67753del

Select item 14915467123.

rs1491546712 has merged into rs148350973 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 4:55950766 (GRCh38)
4:56816932 (GRCh37)
Canonical SPDI:: NC_000004.12:55950759:TTTTTTTTT:TTTTTT,NC_000004.12:55950759:TTTTTTTTT:TTTTTTT,NC_000004.12:55950759:TTTTTTTTT:TTTTTTTT,NC_000004.12:55950759:TTTTTTTTT:TTTTTTTTTT,NC_000004.12:55950759:TTTTTTTTT:TTTTTTTTTTT
Gene:: CEP135 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
T=0.041667/25 (NorthernSweden)
T=0.077842/20604 (TOPMED)
T=0.135514/29 (Vietnamese)
HGVS:: NC_000004.12:g.55950766_55950768del, NC_000004.12:g.55950767_55950768del, NC_000004.12:g.55950768del, NC_000004.12:g.55950768dup, NC_000004.12:g.55950767_55950768dup, NC_000004.11:g.56816932_56816934del, NC_000004.11:g.56816933_56816934del, NC_000004.11:g.56816934del, NC_000004.11:g.56816934dup, NC_000004.11:g.56816933_56816934dup, NG_032806.1:g.6959_6961del, NG_032806.1:g.6960_6961del, NG_032806.1:g.6961del, NG_032806.1:g.6961dup, NG_032806.1:g.6960_6961dup

Select item 14915380664.

rs1491538066 [Homo sapiens]

Variant type:: INS
Alleles:: ->CAAAAAAA,TA,TAA,TAAA,TAAAA,TAAAAA [Show Flanks]
Chromosome:: 4:55961764 (GRCh38)
4:56827931 (GRCh37)
Canonical SPDI:: NC_000004.12:55961764::CAAAAAAA,NC_000004.12:55961764::TA,NC_000004.12:55961764::TAA,NC_000004.12:55961764::TAAA,NC_000004.12:55961764::TAAAA,NC_000004.12:55961764::TAAAAA
Gene:: CEP135 (Varview), LOC124900705 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAA=0./0 (ALFA)
TAA=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.55961764_55961765insCAAAAAAA, NC_000004.12:g.55961764_55961765insTA, NC_000004.12:g.55961764_55961765insTAA, NC_000004.12:g.55961764_55961765insTAAA, NC_000004.12:g.55961764_55961765insTAAAA, NC_000004.12:g.55961764_55961765insTAAAAA, NC_000004.11:g.56827930_56827931insCAAAAAAA, NC_000004.11:g.56827930_56827931insTA, NC_000004.11:g.56827930_56827931insTAA, NC_000004.11:g.56827930_56827931insTAAA, NC_000004.11:g.56827930_56827931insTAAAA, NC_000004.11:g.56827930_56827931insTAAAAA, NG_032806.1:g.17957_17958insCAAAAAAA, NG_032806.1:g.17957_17958insTA, NG_032806.1:g.17957_17958insTAA, NG_032806.1:g.17957_17958insTAAA, NG_032806.1:g.17957_17958insTAAAA, NG_032806.1:g.17957_17958insTAAAAA

Select item 14915084565.

rs1491508456 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AC [Show Flanks]
Chromosome:: 4:56010176 (GRCh38)
4:56876343 (GRCh37)
Canonical SPDI:: NC_000004.12:56010176:C:CAC
Gene:: CEP135 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CAC=0./0 (ALFA)
CA=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.56010177_56010178insAC, NC_000004.11:g.56876343_56876344insAC, NG_032806.1:g.66370_66371insAC

Select item 14914733326.

rs1491473332 has merged into rs141401678 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTAAGGGCTTTATGTTTCCTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:56004938 (GRCh38)
4:56871104 (GRCh37)
Canonical SPDI:: NC_000004.12:56004926:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:56004926:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:56004926:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:56004926:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:56004926:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:56004926:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:56004926:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:56004926:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:56004926:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:56004926:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:56004926:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTAAGGGCTTTATGTTTCCTTTTTTTTTTTTTTTTTTT
Gene:: CEP135 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.2141/1072 (1000Genomes)
HGVS:: NC_000004.12:g.56004938_56004944del, NC_000004.12:g.56004940_56004944del, NC_000004.12:g.56004941_56004944del, NC_000004.12:g.56004942_56004944del, NC_000004.12:g.56004943_56004944del, NC_000004.12:g.56004944del, NC_000004.12:g.56004944dup, NC_000004.12:g.56004943_56004944dup, NC_000004.12:g.56004942_56004944dup, NC_000004.12:g.56004941_56004944dup, NC_000004.12:g.56004927_56004944T[37]ATTTTTAAGGGCTTTATGTTTCCTTTTTTTTTTTTTTTTTTT[1], NC_000004.11:g.56871104_56871110del, NC_000004.11:g.56871106_56871110del, NC_000004.11:g.56871107_56871110del, NC_000004.11:g.56871108_56871110del, NC_000004.11:g.56871109_56871110del, NC_000004.11:g.56871110del, NC_000004.11:g.56871110dup, NC_000004.11:g.56871109_56871110dup, NC_000004.11:g.56871108_56871110dup, NC_000004.11:g.56871107_56871110dup, NC_000004.11:g.56871093_56871110T[37]ATTTTTAAGGGCTTTATGTTTCCTTTTTTTTTTTTTTTTTTT[1], NG_032806.1:g.61131_61137del, NG_032806.1:g.61133_61137del, NG_032806.1:g.61134_61137del, NG_032806.1:g.61135_61137del, NG_032806.1:g.61136_61137del, NG_032806.1:g.61137del, NG_032806.1:g.61137dup, NG_032806.1:g.61136_61137dup, NG_032806.1:g.61135_61137dup, NG_032806.1:g.61134_61137dup, NG_032806.1:g.61120_61137T[37]ATTTTTAAGGGCTTTATGTTTCCTTTTTTTTTTTTTTTTTTT[1]

Select item 14914594267.

rs1491459426 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 4:55961764 (GRCh38)
4:56827930 (GRCh37)
Canonical SPDI:: NC_000004.12:55961763:TA:
Gene:: CEP135 (Varview), LOC124900705 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.55961764_55961765del, NC_000004.11:g.56827930_56827931del, NG_032806.1:g.17957_17958del

Select item 14914570558.

rs1491457055 has merged into rs34298751 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:56004926 (GRCh38)
4:56871092 (GRCh37)
Canonical SPDI:: NC_000004.12:56004925:AT:
Gene:: CEP135 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.00649/25 (ALSPAC)
-=0.01133/42 (TWINSUK)
HGVS:: NC_000004.12:g.56004926_56004927del, NC_000004.11:g.56871092_56871093del, NG_032806.1:g.61119_61120del

Select item 14913898559.

rs1491389855 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 4:56010175 (GRCh38)
4:56876341 (GRCh37)
Canonical SPDI:: NC_000004.12:56010174:AC:
Gene:: CEP135 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00244/29 (ALFA)
-=0.00437/28 (1000Genomes)
-=0.00733/441 (GnomAD)
HGVS:: NC_000004.12:g.56010175_56010176del, NC_000004.11:g.56876341_56876342del, NG_032806.1:g.66368_66369del

Select item 149138919410.

rs1491389194 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 4:56004927 (GRCh38)
4:56871094 (GRCh37)
Canonical SPDI:: NC_000004.12:56004927::A
Gene:: CEP135 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.56004927_56004928insA, NC_000004.11:g.56871093_56871094insA, NG_032806.1:g.61120_61121insA

Select item 149124718511.

rs1491247185 has merged into rs3036749 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CC,CCCC,CCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCC,CCCCCCCCCCCCCC,CCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCC [Show Flanks]
Chromosome:: 4:56010183 (GRCh38)
4:56876349 (GRCh37)
Canonical SPDI:: NC_000004.12:56010175:CCCCCCCCCC:CCCCCCC,NC_000004.12:56010175:CCCCCCCCCC:CCCCCCCC,NC_000004.12:56010175:CCCCCCCCCC:CCCCCCCCC,NC_000004.12:56010175:CCCCCCCCCC:CCCCCCCCCCC,NC_000004.12:56010175:CCCCCCCCCC:CCCCCCCCCCCC,NC_000004.12:56010175:CCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000004.12:56010175:CCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000004.12:56010175:CCCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000004.12:56010175:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCC,NC_000004.12:56010175:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000004.12:56010175:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCC,NC_000004.12:56010175:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCC,NC_000004.12:56010175:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCC
Gene:: CEP135 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCC=0./0 (ALFA)
-=0.1542/772 (1000Genomes)
-=0.3472/1338 (ALSPAC)
HGVS:: NC_000004.12:g.56010183_56010185del, NC_000004.12:g.56010184_56010185del, NC_000004.12:g.56010185del, NC_000004.12:g.56010185dup, NC_000004.12:g.56010184_56010185dup, NC_000004.12:g.56010180_56010185dup, NC_000004.12:g.56010179_56010185dup, NC_000004.12:g.56010178_56010185dup, NC_000004.12:g.56010177_56010185dup, NC_000004.12:g.56010176_56010185dup, NC_000004.12:g.56010185_56010186insCCCCCCCCCCC, NC_000004.12:g.56010185_56010186insCCCCCCCCCCCC, NC_000004.12:g.56010185_56010186insCCCCCCCCCCCCCCC, NC_000004.11:g.56876349_56876351del, NC_000004.11:g.56876350_56876351del, NC_000004.11:g.56876351del, NC_000004.11:g.56876351dup, NC_000004.11:g.56876350_56876351dup, NC_000004.11:g.56876346_56876351dup, NC_000004.11:g.56876345_56876351dup, NC_000004.11:g.56876344_56876351dup, NC_000004.11:g.56876343_56876351dup, NC_000004.11:g.56876342_56876351dup, NC_000004.11:g.56876351_56876352insCCCCCCCCCCC, NC_000004.11:g.56876351_56876352insCCCCCCCCCCCC, NC_000004.11:g.56876351_56876352insCCCCCCCCCCCCCCC, NG_032806.1:g.66376_66378del, NG_032806.1:g.66377_66378del, NG_032806.1:g.66378del, NG_032806.1:g.66378dup, NG_032806.1:g.66377_66378dup, NG_032806.1:g.66373_66378dup, NG_032806.1:g.66372_66378dup, NG_032806.1:g.66371_66378dup, NG_032806.1:g.66370_66378dup, NG_032806.1:g.66369_66378dup, NG_032806.1:g.66378_66379insCCCCCCCCCCC, NG_032806.1:g.66378_66379insCCCCCCCCCCCC, NG_032806.1:g.66378_66379insCCCCCCCCCCCCCCC

Select item 149119362212.

rs1491193622 has merged into rs141401678 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTAAGGGCTTTATGTTTCCTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:56004938 (GRCh38)
4:56871104 (GRCh37)
Canonical SPDI:: NC_000004.12:56004926:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:56004926:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:56004926:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:56004926:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:56004926:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:56004926:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:56004926:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:56004926:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:56004926:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:56004926:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:56004926:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTAAGGGCTTTATGTTTCCTTTTTTTTTTTTTTTTTTT
Gene:: CEP135 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.2141/1072 (1000Genomes)
HGVS:: NC_000004.12:g.56004938_56004944del, NC_000004.12:g.56004940_56004944del, NC_000004.12:g.56004941_56004944del, NC_000004.12:g.56004942_56004944del, NC_000004.12:g.56004943_56004944del, NC_000004.12:g.56004944del, NC_000004.12:g.56004944dup, NC_000004.12:g.56004943_56004944dup, NC_000004.12:g.56004942_56004944dup, NC_000004.12:g.56004941_56004944dup, NC_000004.12:g.56004927_56004944T[37]ATTTTTAAGGGCTTTATGTTTCCTTTTTTTTTTTTTTTTTTT[1], NC_000004.11:g.56871104_56871110del, NC_000004.11:g.56871106_56871110del, NC_000004.11:g.56871107_56871110del, NC_000004.11:g.56871108_56871110del, NC_000004.11:g.56871109_56871110del, NC_000004.11:g.56871110del, NC_000004.11:g.56871110dup, NC_000004.11:g.56871109_56871110dup, NC_000004.11:g.56871108_56871110dup, NC_000004.11:g.56871107_56871110dup, NC_000004.11:g.56871093_56871110T[37]ATTTTTAAGGGCTTTATGTTTCCTTTTTTTTTTTTTTTTTTT[1], NG_032806.1:g.61131_61137del, NG_032806.1:g.61133_61137del, NG_032806.1:g.61134_61137del, NG_032806.1:g.61135_61137del, NG_032806.1:g.61136_61137del, NG_032806.1:g.61137del, NG_032806.1:g.61137dup, NG_032806.1:g.61136_61137dup, NG_032806.1:g.61135_61137dup, NG_032806.1:g.61134_61137dup, NG_032806.1:g.61120_61137T[37]ATTTTTAAGGGCTTTATGTTTCCTTTTTTTTTTTTTTTTTTT[1]

Select item 149108988913.

rs1491089889 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 4:56010186 (GRCh38)
4:56876352 (GRCh37)
Canonical SPDI:: NC_000004.12:56010184:CAC:C
Gene:: CEP135 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000004.12:g.56010186_56010187del, NC_000004.11:g.56876352_56876353del, NG_032806.1:g.66379_66380del

Select item 149106518114.

rs1491065181 has merged into rs34678871 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 4:55988673 (GRCh38)
4:56854839 (GRCh37)
Canonical SPDI:: NC_000004.12:55988661:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:55988661:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:55988661:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:55988661:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: CEP135 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.125/5 (GENOME_DK)
A=0.24281/1216 (1000Genomes)
HGVS:: NC_000004.12:g.55988673_55988674del, NC_000004.12:g.55988674del, NC_000004.12:g.55988674dup, NC_000004.12:g.55988673_55988674dup, NC_000004.11:g.56854839_56854840del, NC_000004.11:g.56854840del, NC_000004.11:g.56854840dup, NC_000004.11:g.56854839_56854840dup, NG_032806.1:g.44866_44867del, NG_032806.1:g.44867del, NG_032806.1:g.44867dup, NG_032806.1:g.44866_44867dup

Select item 149099777515.

rs1490997775 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:56007910 (GRCh38)
4:56874076 (GRCh37)
Canonical SPDI:: NC_000004.12:56007909:T:C
Gene:: CEP135 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000004.12:g.56007910T>C, NC_000004.11:g.56874076T>C, NG_032806.1:g.64103T>C

Select item 149098713616.

rs1490987136 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:56016564 (GRCh38)
4:56882730 (GRCh37)
Canonical SPDI:: NC_000004.12:56016563:T:C
Gene:: CEP135 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.56016564T>C, NC_000004.11:g.56882730T>C, NG_032806.1:g.72757T>C

Select item 149092763817.

rs1490927638 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 4:55948500 (GRCh38)
4:56814667 (GRCh37)
Canonical SPDI:: NC_000004.12:55948500:G:GG
Gene:: CEP135 (Varview), LOC105377663 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.55948501dup, NC_000004.11:g.56814667dup, NG_032806.1:g.4694dup

Select item 149092552618.

rs1490925526 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:56008951 (GRCh38)
4:56875117 (GRCh37)
Canonical SPDI:: NC_000004.12:56008950:G:A
Gene:: CEP135 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000113/30 (TOPMED)
A=0.000128/18 (GnomAD)
HGVS:: NC_000004.12:g.56008951G>A, NC_000004.11:g.56875117G>A, NG_032806.1:g.65144G>A

Select item 149087046019.

rs1490870460 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:55991800 (GRCh38)
4:56857966 (GRCh37)
Canonical SPDI:: NC_000004.12:55991799:AT:
Gene:: CEP135 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.000071/2 (TOMMO)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000004.12:g.55991800_55991801del, NC_000004.11:g.56857966_56857967del, NG_032806.1:g.47993_47994del

Select item 149085949920.

rs1490859499 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:56016845 (GRCh38)
4:56883011 (GRCh37)
Canonical SPDI:: NC_000004.12:56016844:G:A
Gene:: CEP135 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.56016845G>A, NC_000004.11:g.56883011G>A, NG_032806.1:g.73038G>A

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