SNP Links for Gene (Select 80144) - SNP

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Select item 14915849541.

rs1491584954 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCATAT [Show Flanks]
Chromosome:: 4:78140650 (GRCh38)
4:79061805 (GRCh37)
Canonical SPDI:: NC_000004.12:78140650:ATAT:ATATGCATAT
Gene:: FRAS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATATGCATAT=0./0 (ALFA)
ATATGC=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.78140651_78140654AT[2]GCATAT[1], NC_000004.11:g.79061805_79061808AT[2]GCATAT[1], NG_015812.2:g.88082_88085AT[2]GCATAT[1]

Select item 14915780302.

rs1491578030 has merged into rs1294591927 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 4:78393024 (GRCh38)
4:79314178 (GRCh37)
Canonical SPDI:: NC_000004.12:78393023:AAAAAAAA:AAAAAAA,NC_000004.12:78393023:AAAAAAAA:AAAAAAAAA
Gene:: FRAS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0.00123/20 (ALFA)
-=0.00004/1 (TOMMO)
-=0.00334/2 (NorthernSweden)
HGVS:: NC_000004.12:g.78393031del, NC_000004.12:g.78393031dup, NC_000004.11:g.79314185del, NC_000004.11:g.79314185dup, NG_015812.2:g.340462del, NG_015812.2:g.340462dup

Select item 14915474653.

rs1491547465 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 4:78069786 (GRCh38)
4:78990940 (GRCh37)
Canonical SPDI:: NC_000004.12:78069785:GT:
Gene:: FRAS1 (Varview), LOC107986293 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00017/2 (ALFA)
-=0.00035/11 (GnomAD)
HGVS:: NC_000004.12:g.78069786_78069787del, NC_000004.11:g.78990940_78990941del, NG_015812.2:g.17217_17218del

Select item 14915458104.

rs1491545810 has merged into rs11304207 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAAAAAA [Show Flanks]
Chromosome:: 4:78246756 (GRCh38)
4:79167910 (GRCh37)
Canonical SPDI:: NC_000004.12:78246747:AAAAAAAAAA:AAAAAAAA,NC_000004.12:78246747:AAAAAAAAAA:AAAAAAAAA,NC_000004.12:78246747:AAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:78246747:AAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: FRAS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
A=0.275/11 (GENOME_DK)
A=0.2839/1270 (Estonian)
A=0.3077/1141 (TWINSUK)
A=0.3117/187 (NorthernSweden)
A=0.3146/314 (GoNL)
A=0.323/1245 (ALSPAC)
-=0.4443/2225 (1000Genomes)
HGVS:: NC_000004.12:g.78246756_78246757del, NC_000004.12:g.78246757del, NC_000004.12:g.78246757dup, NC_000004.12:g.78246752_78246757dup, NC_000004.11:g.79167910_79167911del, NC_000004.11:g.79167911del, NC_000004.11:g.79167911dup, NC_000004.11:g.79167906_79167911dup, NG_015812.2:g.194187_194188del, NG_015812.2:g.194188del, NG_015812.2:g.194188dup, NG_015812.2:g.194183_194188dup

Select item 14915364325.

rs1491536432 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT,ATAT,ATATAT,ATATATAAATATATATATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAGATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATGT [Show Flanks]
Chromosome:: 4:78483768 (GRCh38)
4:79404923 (GRCh37)
Canonical SPDI:: NC_000004.12:78483768:T:TAT,NC_000004.12:78483768:T:TATAT,NC_000004.12:78483768:T:TATATAT,NC_000004.12:78483768:T:TATATATAAATATATATATATAT,NC_000004.12:78483768:T:TATATATAT,NC_000004.12:78483768:T:TATATATATAT,NC_000004.12:78483768:T:TATATATATATAT,NC_000004.12:78483768:T:TATATATATATATAT,NC_000004.12:78483768:T:TATATATATATATATAGATAT,NC_000004.12:78483768:T:TATATATATATATATAT,NC_000004.12:78483768:T:TATATATATATATATATAT,NC_000004.12:78483768:T:TATATATATATATATATATAT,NC_000004.12:78483768:T:TATATATATATATATATATATAT,NC_000004.12:78483768:T:TATATATATATATATATATATATAT,NC_000004.12:78483768:T:TATATATATATATATATATATATATAT,NC_000004.12:78483768:T:TATATATATATATATATATATATATATATATAT,NC_000004.12:78483768:T:TATATATATATATATGT
Gene:: FRAS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATAT=0./0 (ALFA)
HGVS:: NC_000004.12:g.78483769_78483770insAT, NC_000004.12:g.78483769_78483770insATAT, NC_000004.12:g.78483770AT[3], NC_000004.12:g.78483769TA[4]AATATATATATATAT[1], NC_000004.12:g.78483770AT[4], NC_000004.12:g.78483770AT[5], NC_000004.12:g.78483770AT[6], NC_000004.12:g.78483770AT[7], NC_000004.12:g.78483769TA[8]GATAT[1], NC_000004.12:g.78483770AT[8], NC_000004.12:g.78483770AT[9], NC_000004.12:g.78483770AT[10], NC_000004.12:g.78483770AT[11], NC_000004.12:g.78483770AT[12], NC_000004.12:g.78483770AT[13], NC_000004.12:g.78483770AT[16], NC_000004.12:g.78483769TA[7]TGT[1], NC_000004.11:g.79404923_79404924insAT, NC_000004.11:g.79404923_79404924insATAT, NC_000004.11:g.79404924AT[3], NC_000004.11:g.79404923TA[4]AATATATATATATAT[1], NC_000004.11:g.79404924AT[4], NC_000004.11:g.79404924AT[5], NC_000004.11:g.79404924AT[6], NC_000004.11:g.79404924AT[7], NC_000004.11:g.79404923TA[8]GATAT[1], NC_000004.11:g.79404924AT[8], NC_000004.11:g.79404924AT[9], NC_000004.11:g.79404924AT[10], NC_000004.11:g.79404924AT[11], NC_000004.11:g.79404924AT[12], NC_000004.11:g.79404924AT[13], NC_000004.11:g.79404924AT[16], NC_000004.11:g.79404923TA[7]TGT[1], NG_015812.2:g.431200_431201insAT, NG_015812.2:g.431200_431201insATAT, NG_015812.2:g.431201AT[3], NG_015812.2:g.431200TA[4]AATATATATATATAT[1], NG_015812.2:g.431201AT[4], NG_015812.2:g.431201AT[5], NG_015812.2:g.431201AT[6], NG_015812.2:g.431201AT[7], NG_015812.2:g.431200TA[8]GATAT[1], NG_015812.2:g.431201AT[8], NG_015812.2:g.431201AT[9], NG_015812.2:g.431201AT[10], NG_015812.2:g.431201AT[11], NG_015812.2:g.431201AT[12], NG_015812.2:g.431201AT[13], NG_015812.2:g.431201AT[16], NG_015812.2:g.431200TA[7]TGT[1]

Select item 14915290896.

rs1491529089 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 4:78083627 (GRCh38)
4:79004782 (GRCh37)
Canonical SPDI:: NC_000004.12:78083627::G
Gene:: FRAS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00013/1 (GnomAD)
HGVS:: NC_000004.12:g.78083627_78083628insG, NC_000004.11:g.79004781_79004782insG, NG_015812.2:g.31058_31059insG

Select item 14915281297.

rs1491528129 has merged into rs35377781 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 4:78454186 (GRCh38)
4:79375340 (GRCh37)
Canonical SPDI:: NC_000004.12:78454173:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:78454173:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:78454173:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:78454173:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:78454173:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:78454173:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: FRAS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.3286/186 (NorthernSweden)
-=0.3712/1859 (1000Genomes)
-=0.3744/1443 (ALSPAC)
-=0.3843/1425 (TWINSUK)
HGVS:: NC_000004.12:g.78454186_78454188del, NC_000004.12:g.78454187_78454188del, NC_000004.12:g.78454188del, NC_000004.12:g.78454188dup, NC_000004.12:g.78454187_78454188dup, NC_000004.12:g.78454183_78454188dup, NC_000004.11:g.79375340_79375342del, NC_000004.11:g.79375341_79375342del, NC_000004.11:g.79375342del, NC_000004.11:g.79375342dup, NC_000004.11:g.79375341_79375342dup, NC_000004.11:g.79375337_79375342dup, NG_015812.2:g.401617_401619del, NG_015812.2:g.401618_401619del, NG_015812.2:g.401619del, NG_015812.2:g.401619dup, NG_015812.2:g.401618_401619dup, NG_015812.2:g.401614_401619dup

Select item 14915247108.

rs1491524710 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 4:78298003 (GRCh38)
4:79219157 (GRCh37)
Canonical SPDI:: NC_000004.12:78298002:CC:
Gene:: FRAS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.78298003_78298004del, NC_000004.11:g.79219157_79219158del, NG_015812.2:g.245434_245435del

Select item 14915165499.

rs1491516549 has merged into rs397994139 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 4:78521654 (GRCh38)
4:79442808 (GRCh37)
Canonical SPDI:: NC_000004.12:78521645:TTTTTTTTTT:TTTTTTTT,NC_000004.12:78521645:TTTTTTTTTT:TTTTTTTTT,NC_000004.12:78521645:TTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:78521645:TTTTTTTTTT:TTTTTTTTTTTT
Gene:: FRAS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Clinical significance:: uncertain-significance,benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.373437/1673 (Estonian)
T=0.425/17 (GENOME_DK)
-=0.475/285 (NorthernSweden)
-=0.483968/483 (GoNL)
-=0.486508/1875 (ALSPAC)
-=0.486516/1804 (TWINSUK)
T=0.490176/2445 (1000Genomes)
-=0.494133/130792 (TOPMED)
HGVS:: NC_000004.12:g.78521654_78521655del, NC_000004.12:g.78521655del, NC_000004.12:g.78521655dup, NC_000004.12:g.78521654_78521655dup, NC_000004.11:g.79442808_79442809del, NC_000004.11:g.79442809del, NC_000004.11:g.79442809dup, NC_000004.11:g.79442808_79442809dup, NG_015812.2:g.469085_469086del, NG_015812.2:g.469086del, NG_015812.2:g.469086dup, NG_015812.2:g.469085_469086dup

Select item 149151198410.

rs1491511984 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 4:78371091 (GRCh38)
4:79292245 (GRCh37)
Canonical SPDI:: NC_000004.12:78371089:TGT:T
Gene:: FRAS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000355/6 (TOMMO)
HGVS:: NC_000004.12:g.78371091_78371092del, NC_000004.11:g.79292245_79292246del, NG_015812.2:g.318522_318523del

Select item 149150928111.

rs1491509281 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:78384907 (GRCh38)
4:79306061 (GRCh37)
Canonical SPDI:: NC_000004.12:78384906:CA:
Gene:: FRAS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01248/148 (ALFA)
-=0.00223/63 (TOMMO)
HGVS:: NC_000004.12:g.78384907_78384908del, NC_000004.11:g.79306061_79306062del, NG_015812.2:g.332338_332339del

Select item 149150755512.

rs1491507555 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 4:78298295 (GRCh38)
4:79219450 (GRCh37)
Canonical SPDI:: NC_000004.12:78298295:T:TAT
Gene:: FRAS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAT=0./0 (ALFA)
TA=0.00016/1 (1000Genomes)
TA=0.00024/15 (GnomAD)
HGVS:: NC_000004.12:g.78298296_78298297insAT, NC_000004.11:g.79219450_79219451insAT, NG_015812.2:g.245727_245728insAT

Select item 149150704313.

rs1491507043 has merged into rs10545506 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:78538965 (GRCh38)
4:79460119 (GRCh37)
Canonical SPDI:: NC_000004.12:78538953:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:78538953:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:78538953:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:78538953:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:78538953:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:78538953:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:78538953:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:78538953:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:78538953:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:78538953:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FRAS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AA=0.2734/1369 (1000Genomes)
HGVS:: NC_000004.12:g.78538965_78538973del, NC_000004.12:g.78538967_78538973del, NC_000004.12:g.78538969_78538973del, NC_000004.12:g.78538970_78538973del, NC_000004.12:g.78538971_78538973del, NC_000004.12:g.78538972_78538973del, NC_000004.12:g.78538973del, NC_000004.12:g.78538973dup, NC_000004.12:g.78538972_78538973dup, NC_000004.12:g.78538970_78538973dup, NC_000004.11:g.79460119_79460127del, NC_000004.11:g.79460121_79460127del, NC_000004.11:g.79460123_79460127del, NC_000004.11:g.79460124_79460127del, NC_000004.11:g.79460125_79460127del, NC_000004.11:g.79460126_79460127del, NC_000004.11:g.79460127del, NC_000004.11:g.79460127dup, NC_000004.11:g.79460126_79460127dup, NC_000004.11:g.79460124_79460127dup, NG_015812.2:g.486396_486404del, NG_015812.2:g.486398_486404del, NG_015812.2:g.486400_486404del, NG_015812.2:g.486401_486404del, NG_015812.2:g.486402_486404del, NG_015812.2:g.486403_486404del, NG_015812.2:g.486404del, NG_015812.2:g.486404dup, NG_015812.2:g.486403_486404dup, NG_015812.2:g.486401_486404dup

Select item 149150293214.

rs1491502932 has merged into rs11299648 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:78367420 (GRCh38)
4:79288574 (GRCh37)
Canonical SPDI:: NC_000004.12:78367408:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:78367408:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:78367408:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:78367408:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:78367408:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:78367408:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:78367408:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:78367408:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:78367408:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:78367408:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FRAS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.1308/504 (ALSPAC)
HGVS:: NC_000004.12:g.78367420_78367424del, NC_000004.12:g.78367421_78367424del, NC_000004.12:g.78367422_78367424del, NC_000004.12:g.78367423_78367424del, NC_000004.12:g.78367424del, NC_000004.12:g.78367424dup, NC_000004.12:g.78367423_78367424dup, NC_000004.12:g.78367422_78367424dup, NC_000004.12:g.78367420_78367424dup, NC_000004.12:g.78367416_78367424dup, NC_000004.11:g.79288574_79288578del, NC_000004.11:g.79288575_79288578del, NC_000004.11:g.79288576_79288578del, NC_000004.11:g.79288577_79288578del, NC_000004.11:g.79288578del, NC_000004.11:g.79288578dup, NC_000004.11:g.79288577_79288578dup, NC_000004.11:g.79288576_79288578dup, NC_000004.11:g.79288574_79288578dup, NC_000004.11:g.79288570_79288578dup, NG_015812.2:g.314851_314855del, NG_015812.2:g.314852_314855del, NG_015812.2:g.314853_314855del, NG_015812.2:g.314854_314855del, NG_015812.2:g.314855del, NG_015812.2:g.314855dup, NG_015812.2:g.314854_314855dup, NG_015812.2:g.314853_314855dup, NG_015812.2:g.314851_314855dup, NG_015812.2:g.314847_314855dup

Select item 149150284515.

rs1491502845 [Homo sapiens]

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

Select item 149150015516.

rs1491500155 has merged into rs11308579 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:78249332 (GRCh38)
4:79170486 (GRCh37)
Canonical SPDI:: NC_000004.12:78249323:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000004.12:78249323:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:78249323:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:78249323:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:78249323:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:78249323:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:78249323:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:78249323:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:78249323:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:78249323:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:78249323:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:78249323:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:78249323:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:78249323:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:78249323:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:78249323:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:78249323:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:78249323:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:78249323:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:78249323:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:78249323:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: FRAS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.45/18 (GENOME_DK)
HGVS:: NC_000004.12:g.78249332_78249346del, NC_000004.12:g.78249335_78249346del, NC_000004.12:g.78249336_78249346del, NC_000004.12:g.78249337_78249346del, NC_000004.12:g.78249340_78249346del, NC_000004.12:g.78249341_78249346del, NC_000004.12:g.78249342_78249346del, NC_000004.12:g.78249343_78249346del, NC_000004.12:g.78249344_78249346del, NC_000004.12:g.78249345_78249346del, NC_000004.12:g.78249346del, NC_000004.12:g.78249346dup, NC_000004.12:g.78249345_78249346dup, NC_000004.12:g.78249344_78249346dup, NC_000004.12:g.78249343_78249346dup, NC_000004.12:g.78249342_78249346dup, NC_000004.12:g.78249341_78249346dup, NC_000004.12:g.78249340_78249346dup, NC_000004.12:g.78249339_78249346dup, NC_000004.12:g.78249338_78249346dup, NC_000004.12:g.78249335_78249346dup, NC_000004.11:g.79170486_79170500del, NC_000004.11:g.79170489_79170500del, NC_000004.11:g.79170490_79170500del, NC_000004.11:g.79170491_79170500del, NC_000004.11:g.79170494_79170500del, NC_000004.11:g.79170495_79170500del, NC_000004.11:g.79170496_79170500del, NC_000004.11:g.79170497_79170500del, NC_000004.11:g.79170498_79170500del, NC_000004.11:g.79170499_79170500del, NC_000004.11:g.79170500del, NC_000004.11:g.79170500dup, NC_000004.11:g.79170499_79170500dup, NC_000004.11:g.79170498_79170500dup, NC_000004.11:g.79170497_79170500dup, NC_000004.11:g.79170496_79170500dup, NC_000004.11:g.79170495_79170500dup, NC_000004.11:g.79170494_79170500dup, NC_000004.11:g.79170493_79170500dup, NC_000004.11:g.79170492_79170500dup, NC_000004.11:g.79170489_79170500dup, NG_015812.2:g.196763_196777del, NG_015812.2:g.196766_196777del, NG_015812.2:g.196767_196777del, NG_015812.2:g.196768_196777del, NG_015812.2:g.196771_196777del, NG_015812.2:g.196772_196777del, NG_015812.2:g.196773_196777del, NG_015812.2:g.196774_196777del, NG_015812.2:g.196775_196777del, NG_015812.2:g.196776_196777del, NG_015812.2:g.196777del, NG_015812.2:g.196777dup, NG_015812.2:g.196776_196777dup, NG_015812.2:g.196775_196777dup, NG_015812.2:g.196774_196777dup, NG_015812.2:g.196773_196777dup, NG_015812.2:g.196772_196777dup, NG_015812.2:g.196771_196777dup, NG_015812.2:g.196770_196777dup, NG_015812.2:g.196769_196777dup, NG_015812.2:g.196766_196777dup

Select item 149149939817.

rs1491499398 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:78258339 (GRCh38)
4:79179493 (GRCh37)
Canonical SPDI:: NC_000004.12:78258338:CA:
Gene:: FRAS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.78258339_78258340del, NC_000004.11:g.79179493_79179494del, NG_015812.2:g.205770_205771del

Select item 149149810118.

rs1491498101 has merged into rs11315732 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:78384917 (GRCh38)
4:79306071 (GRCh37)
Canonical SPDI:: NC_000004.12:78384907:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000004.12:78384907:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:78384907:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:78384907:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:78384907:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:78384907:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:78384907:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:78384907:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:78384907:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:78384907:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:78384907:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:78384907:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:78384907:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:78384907:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:78384907:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:78384907:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FRAS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAA=0./0 (GENOME_DK)
AAAAAAAAAAAAA=0.2592/999 (ALSPAC)
-=0.3043/1524 (1000Genomes)
HGVS:: NC_000004.12:g.78384917_78384929del, NC_000004.12:g.78384918_78384929del, NC_000004.12:g.78384921_78384929del, NC_000004.12:g.78384922_78384929del, NC_000004.12:g.78384924_78384929del, NC_000004.12:g.78384925_78384929del, NC_000004.12:g.78384926_78384929del, NC_000004.12:g.78384927_78384929del, NC_000004.12:g.78384928_78384929del, NC_000004.12:g.78384929del, NC_000004.12:g.78384929dup, NC_000004.12:g.78384928_78384929dup, NC_000004.12:g.78384927_78384929dup, NC_000004.12:g.78384926_78384929dup, NC_000004.12:g.78384925_78384929dup, NC_000004.12:g.78384923_78384929dup, NC_000004.11:g.79306071_79306083del, NC_000004.11:g.79306072_79306083del, NC_000004.11:g.79306075_79306083del, NC_000004.11:g.79306076_79306083del, NC_000004.11:g.79306078_79306083del, NC_000004.11:g.79306079_79306083del, NC_000004.11:g.79306080_79306083del, NC_000004.11:g.79306081_79306083del, NC_000004.11:g.79306082_79306083del, NC_000004.11:g.79306083del, NC_000004.11:g.79306083dup, NC_000004.11:g.79306082_79306083dup, NC_000004.11:g.79306081_79306083dup, NC_000004.11:g.79306080_79306083dup, NC_000004.11:g.79306079_79306083dup, NC_000004.11:g.79306077_79306083dup, NG_015812.2:g.332348_332360del, NG_015812.2:g.332349_332360del, NG_015812.2:g.332352_332360del, NG_015812.2:g.332353_332360del, NG_015812.2:g.332355_332360del, NG_015812.2:g.332356_332360del, NG_015812.2:g.332357_332360del, NG_015812.2:g.332358_332360del, NG_015812.2:g.332359_332360del, NG_015812.2:g.332360del, NG_015812.2:g.332360dup, NG_015812.2:g.332359_332360dup, NG_015812.2:g.332358_332360dup, NG_015812.2:g.332357_332360dup, NG_015812.2:g.332356_332360dup, NG_015812.2:g.332354_332360dup

Select item 149149653419.

rs1491496534 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 4:78448222 (GRCh38)
4:79369376 (GRCh37)
Canonical SPDI:: NC_000004.12:78448221:CC:
Gene:: FRAS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0023/31 (ALFA)
-=0.00089/4 (Estonian)
-=0.00109/2 (Korea1K)
HGVS:: NC_000004.12:g.78448222_78448223del, NC_000004.11:g.79369376_79369377del, NG_015812.2:g.395653_395654del, NM_025074.7:c.6180_6181del, NM_025074.6:c.6180_6181del, NP_079350.5:p.His2061fs

Select item 149149334420.

rs1491493344 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 4:78324732 (GRCh38)
4:79245886 (GRCh37)
Canonical SPDI:: NC_000004.12:78324730:TCT:T
Gene:: FRAS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00017/2 (ALFA)
HGVS:: NC_000004.12:g.78324732_78324733del, NC_000004.11:g.79245886_79245887del, NG_015812.2:g.272163_272164del

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