SNP Links for Gene (Select 7078) - SNP

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Select item 14915772641.

rs1491577264 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TGT,TT,TTATATAT [Show Flanks]
Chromosome:: 22:32807347 (GRCh38)
22:33203334 (GRCh37)
Canonical SPDI:: NC_000022.11:32807347::T,NC_000022.11:32807347::TGT,NC_000022.11:32807347::TT,NC_000022.11:32807347::TTATATAT
Gene:: TIMP3 (Varview), SYN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0./0 (ALFA)
T=0.04693/724 (TOMMO)
T=0.1124/58 (NorthernSweden)
HGVS:: NC_000022.11:g.32807347_32807348insT, NC_000022.11:g.32807347_32807348insTGT, NC_000022.11:g.32807347_32807348insTT, NC_000022.11:g.32807347_32807348insTTATATAT, NC_000022.10:g.33203333_33203334insT, NC_000022.10:g.33203333_33203334insTGT, NC_000022.10:g.33203333_33203334insTT, NC_000022.10:g.33203333_33203334insTTATATAT, NG_009117.2:g.10643_10644insT, NG_009117.2:g.10643_10644insTGT, NG_009117.2:g.10643_10644insTT, NG_009117.2:g.10643_10644insTTATATAT, NG_029545.1:g.256044_256045insA, NG_029545.1:g.256044_256045insACA, NG_029545.1:g.256044_256045insAA, NG_029545.1:g.256044_256045insATATATAA

Select item 14914959342.

rs1491495934 [Homo sapiens]

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

Select item 14914643583.

rs1491464358 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 22:32814337 (GRCh38)
22:33210323 (GRCh37)
Canonical SPDI:: NC_000022.11:32814335:AAA:A
Gene:: TIMP3 (Varview), SYN3 (Varview), LOC124905104 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00067/8 (ALFA)
HGVS:: NC_000022.11:g.32814337_32814338del, NC_000022.10:g.33210323_33210324del, NG_009117.2:g.17633_17634del, NG_029545.1:g.249055_249056del, XR_007068068.1:n.2853_2854del

Select item 14914629824.

rs1491462982 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AATATATAATATATAT [Show Flanks]
Chromosome:: 22:32807371 (GRCh38)
22:33203358 (GRCh37)
Canonical SPDI:: NC_000022.11:32807371:ATATATAATATATAT:ATATATAATATATATAATATATAATATATAT
Gene:: TIMP3 (Varview), SYN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATAATATATATAATATATAATATATAT=0.010395/45 (ALFA)
ATATATAATATATATA=0.003344/2 (NorthernSweden)
ATATATAATATATATA=0.013236/1335 (GnomAD)
HGVS:: NC_000022.11:g.32807372_32807386ATATATAAT[2]ATATA[2]TAT[1], NC_000022.10:g.33203358_33203372ATATATAAT[2]ATATA[2]TAT[1], NG_009117.2:g.10668_10682ATATATAAT[2]ATATA[2]TAT[1], NG_029545.1:g.256006_256020AT[4]TATATATTA[2]TA[2]T[1]

Select item 14914502925.

rs1491450292 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 22:32814168 (GRCh38)
22:33210154 (GRCh37)
Canonical SPDI:: NC_000022.11:32814166:AAA:A
Gene:: TIMP3 (Varview), SYN3 (Varview), LOC124905104 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.01158/189 (ALFA)
-=0.00018/5 (TOMMO)
-=0.01234/79 (1000Genomes)
-=0.02485/2325 (GnomAD)
HGVS:: NC_000022.11:g.32814168_32814169del, NC_000022.10:g.33210154_33210155del, NG_009117.2:g.17464_17465del, NG_029545.1:g.249224_249225del

Select item 14913536866.

rs1491353686 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 22:32824278 (GRCh38)
22:33220265 (GRCh37)
Canonical SPDI:: NC_000022.11:32824278::G
Gene:: TIMP3 (Varview), SYN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.32824278_32824279insG, NC_000022.10:g.33220264_33220265insG, NG_009117.2:g.27574_27575insG, NG_029545.1:g.239113_239114insC

Select item 14913533317.

rs1491353331 has merged into rs1457828240 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA [Show Flanks]
Chromosome:: 22:32807377 (GRCh38)
22:33203363 (GRCh37)
Canonical SPDI:: NC_000022.11:32807370:TATATATA:TATATA,NC_000022.11:32807370:TATATATA:TATATATATA
Gene:: TIMP3 (Varview), SYN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATA=0./0 (ALFA)
-=0.00906/14 (Korea1K)
HGVS:: NC_000022.11:g.32807371TA[3], NC_000022.11:g.32807371TA[5], NC_000022.10:g.33203357TA[3], NC_000022.10:g.33203357TA[5], NG_009117.2:g.10667TA[3], NG_009117.2:g.10667TA[5], NG_029545.1:g.256014TA[3], NG_029545.1:g.256014TA[5]

Select item 14912665178.

rs1491266517 has merged into rs766674644 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 22:32860923 (GRCh38)
22:33256910 (GRCh37)
Canonical SPDI:: NC_000022.11:32860913:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000022.11:32860913:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000022.11:32860913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:32860913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:32860913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:32860913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:32860913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:32860913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:32860913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000022.11:32860913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:32860913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000022.11:32860913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TIMP3 (Varview), SYN3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000022.11:g.32860923_32860930del, NC_000022.11:g.32860924_32860930del, NC_000022.11:g.32860925_32860930del, NC_000022.11:g.32860926_32860930del, NC_000022.11:g.32860927_32860930del, NC_000022.11:g.32860928_32860930del, NC_000022.11:g.32860929_32860930del, NC_000022.11:g.32860930del, NC_000022.11:g.32860930dup, NC_000022.11:g.32860929_32860930dup, NC_000022.11:g.32860928_32860930dup, NC_000022.11:g.32860924_32860930dup, NC_000022.10:g.33256910_33256917del, NC_000022.10:g.33256911_33256917del, NC_000022.10:g.33256912_33256917del, NC_000022.10:g.33256913_33256917del, NC_000022.10:g.33256914_33256917del, NC_000022.10:g.33256915_33256917del, NC_000022.10:g.33256916_33256917del, NC_000022.10:g.33256917del, NC_000022.10:g.33256917dup, NC_000022.10:g.33256916_33256917dup, NC_000022.10:g.33256915_33256917dup, NC_000022.10:g.33256911_33256917dup, NG_009117.2:g.64219_64226del, NG_009117.2:g.64220_64226del, NG_009117.2:g.64221_64226del, NG_009117.2:g.64222_64226del, NG_009117.2:g.64223_64226del, NG_009117.2:g.64224_64226del, NG_009117.2:g.64225_64226del, NG_009117.2:g.64226del, NG_009117.2:g.64226dup, NG_009117.2:g.64225_64226dup, NG_009117.2:g.64224_64226dup, NG_009117.2:g.64220_64226dup, NM_000362.5:c.*1546_*1553del, NM_000362.5:c.*1547_*1553del, NM_000362.5:c.*1548_*1553del, NM_000362.5:c.*1549_*1553del, NM_000362.5:c.*1550_*1553del, NM_000362.5:c.*1551_*1553del, NM_000362.5:c.*1552_*1553del, NM_000362.5:c.*1553del, NM_000362.5:c.*1553dup, NM_000362.5:c.*1552_*1553dup, NM_000362.5:c.*1551_*1553dup, NM_000362.5:c.*1547_*1553dup, NM_000362.4:c.*1546_*1553del, NM_000362.4:c.*1547_*1553del, NM_000362.4:c.*1548_*1553del, NM_000362.4:c.*1549_*1553del, NM_000362.4:c.*1550_*1553del, NM_000362.4:c.*1551_*1553del, NM_000362.4:c.*1552_*1553del, NM_000362.4:c.*1553del, NM_000362.4:c.*1553dup, NM_000362.4:c.*1552_*1553dup, NM_000362.4:c.*1551_*1553dup, NM_000362.4:c.*1547_*1553dup, NG_029545.1:g.202470_202477del, NG_029545.1:g.202471_202477del, NG_029545.1:g.202472_202477del, NG_029545.1:g.202473_202477del, NG_029545.1:g.202474_202477del, NG_029545.1:g.202475_202477del, NG_029545.1:g.202476_202477del, NG_029545.1:g.202477del, NG_029545.1:g.202477dup, NG_029545.1:g.202476_202477dup, NG_029545.1:g.202475_202477dup, NG_029545.1:g.202471_202477dup

Select item 14912368669.

rs1491236866 has merged into rs1169794415 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 22:32807348 (GRCh38)
22:33203334 (GRCh37)
Canonical SPDI:: NC_000022.11:32807346:AAA:A,NC_000022.11:32807346:AAA:AA,NC_000022.11:32807346:AAA:AAAA
Gene:: TIMP3 (Varview), SYN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.00011/3 (TOMMO)
HGVS:: NC_000022.11:g.32807348_32807349del, NC_000022.11:g.32807349del, NC_000022.11:g.32807349dup, NC_000022.10:g.33203334_33203335del, NC_000022.10:g.33203335del, NC_000022.10:g.33203335dup, NG_009117.2:g.10644_10645del, NG_009117.2:g.10645del, NG_009117.2:g.10645dup, NG_029545.1:g.256044_256045del, NG_029545.1:g.256045del, NG_029545.1:g.256045dup

Select item 149121494010.

rs1491214940 has merged into rs130288 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 22:32824291 (GRCh38)
22:33220277 (GRCh37)
Canonical SPDI:: NC_000022.11:32824277:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:32824277:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:32824277:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:32824277:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:32824277:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:32824277:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: TIMP3 (Varview), SYN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.3548/1777 (1000Genomes)
HGVS:: NC_000022.11:g.32824291_32824292del, NC_000022.11:g.32824292del, NC_000022.11:g.32824292dup, NC_000022.11:g.32824291_32824292dup, NC_000022.11:g.32824290_32824292dup, NC_000022.11:g.32824289_32824292dup, NC_000022.10:g.33220277_33220278del, NC_000022.10:g.33220278del, NC_000022.10:g.33220278dup, NC_000022.10:g.33220277_33220278dup, NC_000022.10:g.33220276_33220278dup, NC_000022.10:g.33220275_33220278dup, NG_009117.2:g.27587_27588del, NG_009117.2:g.27588del, NG_009117.2:g.27588dup, NG_009117.2:g.27587_27588dup, NG_009117.2:g.27586_27588dup, NG_009117.2:g.27585_27588dup, NG_029545.1:g.239113_239114del, NG_029545.1:g.239114del, NG_029545.1:g.239114dup, NG_029545.1:g.239113_239114dup, NG_029545.1:g.239112_239114dup, NG_029545.1:g.239111_239114dup

Select item 149118612111.

rs1491186121 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 22:32820242 (GRCh38)
22:33216228 (GRCh37)
Canonical SPDI:: NC_000022.11:32820241:CT:
Gene:: TIMP3 (Varview), SYN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000051/6 (GnomAD)
HGVS:: NC_000022.11:g.32820242_32820243del, NC_000022.10:g.33216228_33216229del, NG_009117.2:g.23538_23539del, NG_029545.1:g.243149_243150del

Select item 149117251012.

rs1491172510 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 22:32814336 (GRCh38)
22:33210323 (GRCh37)
Canonical SPDI:: NC_000022.11:32814336::C
Gene:: TIMP3 (Varview), SYN3 (Varview), LOC124905104 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by cluster
HGVS:: NC_000022.11:g.32814336_32814337insC, NC_000022.10:g.33210322_33210323insC, NG_009117.2:g.17632_17633insC, NG_029545.1:g.249055_249056insG, XR_007068068.1:n.2852_2853insC

Select item 149114733413.

rs1491147334 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 22:32807394 (GRCh38)
22:33203380 (GRCh37)
Canonical SPDI:: NC_000022.11:32807393:AA:
Gene:: TIMP3 (Varview), SYN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00013/12 (GnomAD)
HGVS:: NC_000022.11:g.32807394_32807395del, NC_000022.10:g.33203380_33203381del, NG_009117.2:g.10690_10691del, NG_029545.1:g.255997_255998del

Select item 149108778314.

rs1491087783 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAGAAAGAAAAAGAAAGA,AAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGA [Show Flanks]
Chromosome:: 22:32814341 (GRCh38)
22:33210328 (GRCh37)
Canonical SPDI:: NC_000022.11:32814341:AAAGAAAGA:AAAGAAAGAAAGAAAGAAAAAGAAAGA,NC_000022.11:32814341:AAAGAAAGA:AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGA
Gene:: TIMP3 (Varview), SYN3 (Varview), LOC124905104 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA=0.000008/1 (GnomAD)
HGVS:: NC_000022.11:g.32814342_32814350AAAG[4]A[5]GAAAGA[1], NC_000022.11:g.32814342_32814350AAAG[8]A[5]GAAAGA[1], NC_000022.10:g.33210328_33210336AAAG[4]A[5]GAAAGA[1], NC_000022.10:g.33210328_33210336AAAG[8]A[5]GAAAGA[1], NG_009117.2:g.17638_17646AAAG[4]A[5]GAAAGA[1], NG_009117.2:g.17638_17646AAAG[8]A[5]GAAAGA[1], NG_029545.1:g.249042_249050TCTT[2]TTTC[4]TTT[1], NG_029545.1:g.249042_249050TCTT[2]TTTC[8]TTT[1]

Select item 149108698315.

rs1491086983 has merged into rs374591413 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 22:32820279 (GRCh38)
22:33216265 (GRCh37)
Canonical SPDI:: NC_000022.11:32820269:GTGTGTGTGTGTGTGTGTG:GTGTGTGTG,NC_000022.11:32820269:GTGTGTGTGTGTGTGTGTG:GTGTGTGTGTG,NC_000022.11:32820269:GTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTG,NC_000022.11:32820269:GTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTG,NC_000022.11:32820269:GTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000022.11:32820269:GTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000022.11:32820269:GTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000022.11:32820269:GTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000022.11:32820269:GTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000022.11:32820269:GTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: TIMP3 (Varview), SYN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTG=0./0 (ALFA)
GT=0.025/1 (GENOME_DK)
GT=0.13918/697 (1000Genomes)
GT=0.14333/86 (NorthernSweden)
HGVS:: NC_000022.11:g.32820271TG[4], NC_000022.11:g.32820271TG[5], NC_000022.11:g.32820271TG[6], NC_000022.11:g.32820271TG[7], NC_000022.11:g.32820271TG[8], NC_000022.11:g.32820271TG[10], NC_000022.11:g.32820271TG[11], NC_000022.11:g.32820271TG[12], NC_000022.11:g.32820271TG[13], NC_000022.11:g.32820271TG[14], NC_000022.10:g.33216257TG[4], NC_000022.10:g.33216257TG[5], NC_000022.10:g.33216257TG[6], NC_000022.10:g.33216257TG[7], NC_000022.10:g.33216257TG[8], NC_000022.10:g.33216257TG[10], NC_000022.10:g.33216257TG[11], NC_000022.10:g.33216257TG[12], NC_000022.10:g.33216257TG[13], NC_000022.10:g.33216257TG[14], NG_009117.2:g.23567TG[4], NG_009117.2:g.23567TG[5], NG_009117.2:g.23567TG[6], NG_009117.2:g.23567TG[7], NG_009117.2:g.23567TG[8], NG_009117.2:g.23567TG[10], NG_009117.2:g.23567TG[11], NG_009117.2:g.23567TG[12], NG_009117.2:g.23567TG[13], NG_009117.2:g.23567TG[14], NG_029545.1:g.243105AC[4], NG_029545.1:g.243105AC[5], NG_029545.1:g.243105AC[6], NG_029545.1:g.243105AC[7], NG_029545.1:g.243105AC[8], NG_029545.1:g.243105AC[10], NG_029545.1:g.243105AC[11], NG_029545.1:g.243105AC[12], NG_029545.1:g.243105AC[13], NG_029545.1:g.243105AC[14]

Select item 149099158816.

rs1490991588 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 22:32814243 (GRCh38)
22:33210229 (GRCh37)
Canonical SPDI:: NC_000022.11:32814242:A:C
Gene:: TIMP3 (Varview), SYN3 (Varview), LOC124905104 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
C=0.000008/1 (GnomAD)
HGVS:: NC_000022.11:g.32814243A>C, NC_000022.10:g.33210229A>C, NG_009117.2:g.17539A>C, NG_029545.1:g.249149T>G

Select item 149092527117.

rs1490925271 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 22:32815153 (GRCh38)
22:33211139 (GRCh37)
Canonical SPDI:: NC_000022.11:32815152:C:A,NC_000022.11:32815152:C:T
Gene:: TIMP3 (Varview), SYN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.32815153C>A, NC_000022.11:g.32815153C>T, NC_000022.10:g.33211139C>A, NC_000022.10:g.33211139C>T, NG_009117.2:g.18449C>A, NG_009117.2:g.18449C>T, NG_029545.1:g.248239G>T, NG_029545.1:g.248239G>A

Select item 149088603018.

rs1490886030 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:32820098 (GRCh38)
22:33216084 (GRCh37)
Canonical SPDI:: NC_000022.11:32820097:G:C
Gene:: TIMP3 (Varview), SYN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.32820098G>C, NC_000022.10:g.33216084G>C, NG_009117.2:g.23394G>C, NG_029545.1:g.243294C>G

Select item 149083667719.

rs1490836677 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:32838318 (GRCh38)
22:33234305 (GRCh37)
Canonical SPDI:: NC_000022.11:32838317:G:A,NC_000022.11:32838317:G:C
Gene:: TIMP3 (Varview), SYN3 (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_000022.11:g.32838318G>A, NC_000022.11:g.32838318G>C, NC_000022.10:g.33234305G>A, NC_000022.10:g.33234305G>C, NG_009117.2:g.41614G>A, NG_009117.2:g.41614G>C, NG_029545.1:g.225073C>T, NG_029545.1:g.225073C>G

Select item 149083311820.

rs1490833118 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACCCTGCCC>- [Show Flanks]
Chromosome:: 22:32859560 (GRCh38)
22:33255547 (GRCh37)
Canonical SPDI:: NC_000022.11:32859556:CCCACCCTGCCC:CCC
Gene:: TIMP3 (Varview), SYN3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.32859560_32859568del, NC_000022.10:g.33255547_33255555del, NG_009117.2:g.62856_62864del, NM_000362.5:c.*183_*191del, NM_000362.4:c.*183_*191del, NG_029545.1:g.203826_203834del

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