SNP Links for Gene (Select 222235) - SNP

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Select item 14915842941.

rs1491584294 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 7:102835627 (GRCh38)
7:102476074 (GRCh37)
Canonical SPDI:: NC_000007.14:102835626:TG:
Gene:: FAM185A (Varview), FBXL13 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00059/7 (ALFA)
-=0.000043/5 (GnomAD)
-=0.004823/80 (TOMMO)
HGVS:: NC_000007.14:g.102835627_102835628del, NC_000007.13:g.102476074_102476075del

Select item 14915824232.

rs1491582423 has merged into rs58145920 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCTCT>-,CT,CTCT,CTCTCTCT,CTCTCTCTCT,CTCTCTCTCTCT [Show Flanks]
Chromosome:: 7:102721321 (GRCh38)
7:102361768 (GRCh37)
Canonical SPDI:: NC_000007.14:102721309:TCTCTCTCTCTCTCTCT:TCTCTCTCTCT,NC_000007.14:102721309:TCTCTCTCTCTCTCTCT:TCTCTCTCTCTCT,NC_000007.14:102721309:TCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCT,NC_000007.14:102721309:TCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT,NC_000007.14:102721309:TCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT,NC_000007.14:102721309:TCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCT
Gene:: RASA4DP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCTCTCTCTCTCTCT=0./0 (ALFA)
-=0.2909/1457 (1000Genomes)
-=0.4/16 (GENOME_DK)
-=0.4645/851 (Korea1K)
HGVS:: NC_000007.14:g.102721311CT[5], NC_000007.14:g.102721311CT[6], NC_000007.14:g.102721311CT[7], NC_000007.14:g.102721311CT[9], NC_000007.14:g.102721311CT[10], NC_000007.14:g.102721311CT[11], NC_000007.13:g.102361758CT[5], NC_000007.13:g.102361758CT[6], NC_000007.13:g.102361758CT[7], NC_000007.13:g.102361758CT[9], NC_000007.13:g.102361758CT[10], NC_000007.13:g.102361758CT[11]

Select item 14915821223.

rs1491582122 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:103062025 (GRCh38)
7:102702472 (GRCh37)
Canonical SPDI:: NC_000007.14:103062024:CA:
Gene:: FBXL13 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.103062025_103062026del, NC_000007.13:g.102702472_102702473del

Select item 14915796374.

rs1491579637 has merged into rs149290480 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT [Show Flanks]
Chromosome:: 7:102897123 (GRCh38)
7:102537570 (GRCh37)
Canonical SPDI:: NC_000007.14:102897115:TATATATAT:TATATAT,NC_000007.14:102897115:TATATATAT:TATATATATAT,NC_000007.14:102897115:TATATATAT:TATATATATATAT
Gene:: FBXL13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATAT=0./0 (ALFA)
TA=0.005/3 (NorthernSweden)
TA=0.03217/161 (1000Genomes)
TA=0.08698/1458 (TOMMO)
TA=0.08962/19 (Vietnamese)
TA=0.12282/225 (Korea1K)
HGVS:: NC_000007.14:g.102897117AT[3], NC_000007.14:g.102897117AT[5], NC_000007.14:g.102897117AT[6], NC_000007.13:g.102537564AT[3], NC_000007.13:g.102537564AT[5], NC_000007.13:g.102537564AT[6]

Select item 14915765945.

rs1491576594 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TAT [Show Flanks]
Chromosome:: 7:102963007 (GRCh38)
7:102603455 (GRCh37)
Canonical SPDI:: NC_000007.14:102963007::T,NC_000007.14:102963007::TAT
Gene:: FBXL13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAT=0./0 (ALFA)
HGVS:: NC_000007.14:g.102963007_102963008insT, NC_000007.14:g.102963007_102963008insTAT, NC_000007.13:g.102603454_102603455insT, NC_000007.13:g.102603454_102603455insTAT

Select item 14915604126.

rs1491560412 has merged into rs111697845 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:102862339 (GRCh38)
7:102502786 (GRCh37)
Canonical SPDI:: NC_000007.14:102862328:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:102862328:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:102862328:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:102862328:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:102862328:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:102862328:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:102862328:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:102862328:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:102862328:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:102862328:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:102862328:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:102862328:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: FBXL13 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.1204/464 (ALSPAC)
-=0.1251/464 (TWINSUK)
-=0.2055/1029 (1000Genomes)
HGVS:: NC_000007.14:g.102862339_102862345del, NC_000007.14:g.102862341_102862345del, NC_000007.14:g.102862342_102862345del, NC_000007.14:g.102862343_102862345del, NC_000007.14:g.102862344_102862345del, NC_000007.14:g.102862345del, NC_000007.14:g.102862345dup, NC_000007.14:g.102862344_102862345dup, NC_000007.14:g.102862343_102862345dup, NC_000007.14:g.102862342_102862345dup, NC_000007.14:g.102862341_102862345dup, NC_000007.14:g.102862340_102862345dup, NC_000007.13:g.102502786_102502792del, NC_000007.13:g.102502788_102502792del, NC_000007.13:g.102502789_102502792del, NC_000007.13:g.102502790_102502792del, NC_000007.13:g.102502791_102502792del, NC_000007.13:g.102502792del, NC_000007.13:g.102502792dup, NC_000007.13:g.102502791_102502792dup, NC_000007.13:g.102502790_102502792dup, NC_000007.13:g.102502789_102502792dup, NC_000007.13:g.102502788_102502792dup, NC_000007.13:g.102502787_102502792dup

Select item 14915431947.

rs1491543194 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 7:102754204 (GRCh38)
7:102394651 (GRCh37)
Canonical SPDI:: NC_000007.14:102754203:AT:
Gene:: FAM185A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000253/3 (ALFA)
-=0.000155/17 (GnomAD)
-=0.000156/1 (1000Genomes)
-=0.001665/3 (Korea1K)
-=0.002053/34 (TOMMO)
HGVS:: NC_000007.14:g.102754204_102754205del, NC_000007.13:g.102394651_102394652del

Select item 14915397418.

rs1491539741 has merged into rs765672577 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:102794044 (GRCh38)
7:102434491 (GRCh37)
Canonical SPDI:: NC_000007.14:102794035:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000007.14:102794035:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:102794035:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:102794035:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:102794035:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:102794035:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:102794035:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:102794035:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:102794035:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:102794035:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:102794035:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:102794035:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:102794035:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:102794035:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:102794035:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:102794035:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:102794035:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:102794035:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:102794035:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:102794035:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:102794035:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:102794035:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FAM185A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
AAAAAAAAAAA=0./0 (GENOME_DK)
HGVS:: NC_000007.14:g.102794044_102794059del, NC_000007.14:g.102794048_102794059del, NC_000007.14:g.102794049_102794059del, NC_000007.14:g.102794051_102794059del, NC_000007.14:g.102794052_102794059del, NC_000007.14:g.102794053_102794059del, NC_000007.14:g.102794054_102794059del, NC_000007.14:g.102794055_102794059del, NC_000007.14:g.102794056_102794059del, NC_000007.14:g.102794057_102794059del, NC_000007.14:g.102794058_102794059del, NC_000007.14:g.102794059del, NC_000007.14:g.102794059dup, NC_000007.14:g.102794058_102794059dup, NC_000007.14:g.102794057_102794059dup, NC_000007.14:g.102794056_102794059dup, NC_000007.14:g.102794055_102794059dup, NC_000007.14:g.102794054_102794059dup, NC_000007.14:g.102794053_102794059dup, NC_000007.14:g.102794052_102794059dup, NC_000007.14:g.102794051_102794059dup, NC_000007.14:g.102794045_102794059dup, NC_000007.13:g.102434491_102434506del, NC_000007.13:g.102434495_102434506del, NC_000007.13:g.102434496_102434506del, NC_000007.13:g.102434498_102434506del, NC_000007.13:g.102434499_102434506del, NC_000007.13:g.102434500_102434506del, NC_000007.13:g.102434501_102434506del, NC_000007.13:g.102434502_102434506del, NC_000007.13:g.102434503_102434506del, NC_000007.13:g.102434504_102434506del, NC_000007.13:g.102434505_102434506del, NC_000007.13:g.102434506del, NC_000007.13:g.102434506dup, NC_000007.13:g.102434505_102434506dup, NC_000007.13:g.102434504_102434506dup, NC_000007.13:g.102434503_102434506dup, NC_000007.13:g.102434502_102434506dup, NC_000007.13:g.102434501_102434506dup, NC_000007.13:g.102434500_102434506dup, NC_000007.13:g.102434499_102434506dup, NC_000007.13:g.102434498_102434506dup, NC_000007.13:g.102434492_102434506dup

Select item 14915350799.

rs1491535079 has merged into rs112694559 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CC,CCCC,CCCCC,CCCCCC,CCCCCCC [Show Flanks]
Chromosome:: 7:102986025 (GRCh38)
7:102626472 (GRCh37)
Canonical SPDI:: NC_000007.14:102986017:CCCCCCCCCC:CCCCCCC,NC_000007.14:102986017:CCCCCCCCCC:CCCCCCCC,NC_000007.14:102986017:CCCCCCCCCC:CCCCCCCCC,NC_000007.14:102986017:CCCCCCCCCC:CCCCCCCCCCC,NC_000007.14:102986017:CCCCCCCCCC:CCCCCCCCCCCC,NC_000007.14:102986017:CCCCCCCCCC:CCCCCCCCCCCCC,NC_000007.14:102986017:CCCCCCCCCC:CCCCCCCCCCCCCC
Gene:: NFE4 (Varview), FBXL13 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
C=0.05/2 (GENOME_DK)
C=0.198341/837 (Estonian)
C=0.23762/1190 (1000Genomes)
HGVS:: NC_000007.14:g.102986025_102986027del, NC_000007.14:g.102986026_102986027del, NC_000007.14:g.102986027del, NC_000007.14:g.102986027dup, NC_000007.14:g.102986026_102986027dup, NC_000007.14:g.102986025_102986027dup, NC_000007.14:g.102986024_102986027dup, NC_000007.13:g.102626472_102626474del, NC_000007.13:g.102626473_102626474del, NC_000007.13:g.102626474del, NC_000007.13:g.102626474dup, NC_000007.13:g.102626473_102626474dup, NC_000007.13:g.102626472_102626474dup, NC_000007.13:g.102626471_102626474dup

Select item 149152604010.

rs1491526040 has merged into rs200430332 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 7:102801932 (GRCh38)
7:102442379 (GRCh37)
Canonical SPDI:: NC_000007.14:102801921:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:102801921:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:102801921:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:102801921:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:102801921:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:102801921:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:102801921:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: FAM185A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.283505/165 (NorthernSweden)
HGVS:: NC_000007.14:g.102801932_102801936del, NC_000007.14:g.102801934_102801936del, NC_000007.14:g.102801935_102801936del, NC_000007.14:g.102801936del, NC_000007.14:g.102801936dup, NC_000007.14:g.102801935_102801936dup, NC_000007.14:g.102801934_102801936dup, NC_000007.13:g.102442379_102442383del, NC_000007.13:g.102442381_102442383del, NC_000007.13:g.102442382_102442383del, NC_000007.13:g.102442383del, NC_000007.13:g.102442383dup, NC_000007.13:g.102442382_102442383dup, NC_000007.13:g.102442381_102442383dup

Select item 149151909711.

rs1491519097 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATATATATATATATATATGTGT,ATATATATATATATATGT,ATATATATATATATATGTGT,ATATATATATATATGT,ATATATATATATATGTGT,ATATATATATATATGTGTGT,ATATATATATATGT,ATATATATATATGTGT,ATATATATATATGTGTGT,ATATATATATGT,ATATATATATGTGT,ATATATATATGTGTGT,ATATATATGT,ATATATATGTGT,ATATATGT,ATATATGTGT,ATATATGTGTGT,ATATGT,ATATGTGT,ATATGTGTGT,ATATTTATGTGT,ATGT,ATGTGT,ATGTGTGT [Show Flanks]
Chromosome:: 7:102834473 (GRCh38)
7:102474921 (GRCh37)
Canonical SPDI:: NC_000007.14:102834473:T:TATATATATATATATATATGTGT,NC_000007.14:102834473:T:TATATATATATATATATGT,NC_000007.14:102834473:T:TATATATATATATATATGTGT,NC_000007.14:102834473:T:TATATATATATATATGT,NC_000007.14:102834473:T:TATATATATATATATGTGT,NC_000007.14:102834473:T:TATATATATATATATGTGTGT,NC_000007.14:102834473:T:TATATATATATATGT,NC_000007.14:102834473:T:TATATATATATATGTGT,NC_000007.14:102834473:T:TATATATATATATGTGTGT,NC_000007.14:102834473:T:TATATATATATGT,NC_000007.14:102834473:T:TATATATATATGTGT,NC_000007.14:102834473:T:TATATATATATGTGTGT,NC_000007.14:102834473:T:TATATATATGT,NC_000007.14:102834473:T:TATATATATGTGT,NC_000007.14:102834473:T:TATATATGT,NC_000007.14:102834473:T:TATATATGTGT,NC_000007.14:102834473:T:TATATATGTGTGT,NC_000007.14:102834473:T:TATATGT,NC_000007.14:102834473:T:TATATGTGT,NC_000007.14:102834473:T:TATATGTGTGT,NC_000007.14:102834473:T:TATATTTATGTGT,NC_000007.14:102834473:T:TATGT,NC_000007.14:102834473:T:TATGTGT,NC_000007.14:102834473:T:TATGTGTGT
Gene:: FAM185A (Varview), FBXL13 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATATGT=0./0 (ALFA)
TATGTGTG=0.000004/1 (TOPMED)
TATATATATATGTG=0.005/3 (NorthernSweden)
HGVS:: NC_000007.14:g.102834474TA[9]TG[2]T[1], NC_000007.14:g.102834474TA[8]TGT[1], NC_000007.14:g.102834474TA[8]TG[2]T[1], NC_000007.14:g.102834474TA[7]TGT[1], NC_000007.14:g.102834474TA[7]TG[2]T[1], NC_000007.14:g.102834474TA[7]TG[3]T[1], NC_000007.14:g.102834474TA[6]TGT[1], NC_000007.14:g.102834474TA[6]TG[2]T[1], NC_000007.14:g.102834474TA[6]TG[3]T[1], NC_000007.14:g.102834474TA[5]TGT[1], NC_000007.14:g.102834474TA[5]TG[2]T[1], NC_000007.14:g.102834474TA[5]TG[3]T[1], NC_000007.14:g.102834474TA[4]TGT[1], NC_000007.14:g.102834474TA[4]TG[2]T[1], NC_000007.14:g.102834474TA[3]TGT[1], NC_000007.14:g.102834474TA[3]TG[2]T[1], NC_000007.14:g.102834474TA[3]TG[3]T[1], NC_000007.14:g.102834474TA[2]TGT[1], NC_000007.14:g.102834474TA[2]TG[2]T[1], NC_000007.14:g.102834474TA[2]TG[3]T[1], NC_000007.14:g.102834474TA[2]TTTATGTGT[1], NC_000007.14:g.102834474_102834475insATGT, NC_000007.14:g.102834474_102834475insATGTGT, NC_000007.14:g.102834474_102834475insATGTGTGT, NC_000007.13:g.102474921TA[9]TG[2]T[1], NC_000007.13:g.102474921TA[8]TGT[1], NC_000007.13:g.102474921TA[8]TG[2]T[1], NC_000007.13:g.102474921TA[7]TGT[1], NC_000007.13:g.102474921TA[7]TG[2]T[1], NC_000007.13:g.102474921TA[7]TG[3]T[1], NC_000007.13:g.102474921TA[6]TGT[1], NC_000007.13:g.102474921TA[6]TG[2]T[1], NC_000007.13:g.102474921TA[6]TG[3]T[1], NC_000007.13:g.102474921TA[5]TGT[1], NC_000007.13:g.102474921TA[5]TG[2]T[1], NC_000007.13:g.102474921TA[5]TG[3]T[1], NC_000007.13:g.102474921TA[4]TGT[1], NC_000007.13:g.102474921TA[4]TG[2]T[1], NC_000007.13:g.102474921TA[3]TGT[1], NC_000007.13:g.102474921TA[3]TG[2]T[1], NC_000007.13:g.102474921TA[3]TG[3]T[1], NC_000007.13:g.102474921TA[2]TGT[1], NC_000007.13:g.102474921TA[2]TG[2]T[1], NC_000007.13:g.102474921TA[2]TG[3]T[1], NC_000007.13:g.102474921TA[2]TTTATGTGT[1], NC_000007.13:g.102474921_102474922insATGT, NC_000007.13:g.102474921_102474922insATGTGT, NC_000007.13:g.102474921_102474922insATGTGTGT

Select item 149150179512.

rs1491501795 [Homo sapiens]

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

Select item 149150095513.

rs1491500955 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 7:102716805 (GRCh38)
7:102357252 (GRCh37)
Canonical SPDI:: NC_000007.14:102716804:TA:
Gene:: RASA4DP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.102716805_102716806del, NC_000007.13:g.102357252_102357253del

Select item 149149472114.

rs1491494721 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA,ATATATATATATATATA,ATATATATATATATATATA [Show Flanks]
Chromosome:: 7:102867696 (GRCh38)
7:102508144 (GRCh37)
Canonical SPDI:: NC_000007.14:102867696::A,NC_000007.14:102867696::ATA,NC_000007.14:102867696::ATATA,NC_000007.14:102867696::ATATATA,NC_000007.14:102867696::ATATATATA,NC_000007.14:102867696::ATATATATATA,NC_000007.14:102867696::ATATATATATATA,NC_000007.14:102867696::ATATATATATATATA,NC_000007.14:102867696::ATATATATATATATATA,NC_000007.14:102867696::ATATATATATATATATATA
Gene:: FBXL13 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
HGVS:: NC_000007.14:g.102867696_102867697insA, NC_000007.14:g.102867696_102867697insATA, NC_000007.14:g.102867696_102867697insATATA, NC_000007.14:g.102867696_102867697insATATATA, NC_000007.14:g.102867696_102867697insATATATATA, NC_000007.14:g.102867696_102867697insATATATATATA, NC_000007.14:g.102867696_102867697insATATATATATATA, NC_000007.14:g.102867696_102867697insATATATATATATATA, NC_000007.14:g.102867696_102867697insATATATATATATATATA, NC_000007.14:g.102867696_102867697insATATATATATATATATATA, NC_000007.13:g.102508143_102508144insA, NC_000007.13:g.102508143_102508144insATA, NC_000007.13:g.102508143_102508144insATATA, NC_000007.13:g.102508143_102508144insATATATA, NC_000007.13:g.102508143_102508144insATATATATA, NC_000007.13:g.102508143_102508144insATATATATATA, NC_000007.13:g.102508143_102508144insATATATATATATA, NC_000007.13:g.102508143_102508144insATATATATATATATA, NC_000007.13:g.102508143_102508144insATATATATATATATATA, NC_000007.13:g.102508143_102508144insATATATATATATATATATA

Select item 149148947415.

rs1491489474 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 7:103062024 (GRCh38)
7:102702472 (GRCh37)
Canonical SPDI:: NC_000007.14:103062024::A
Gene:: FBXL13 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.103062024_103062025insA, NC_000007.13:g.102702471_102702472insA

Select item 149148499916.

rs1491484999 has merged into rs11318355 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:103024541 (GRCh38)
7:102664988 (GRCh37)
Canonical SPDI:: NC_000007.14:103024528:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:103024528:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:103024528:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:103024528:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:103024528:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:103024528:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:103024528:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:103024528:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:103024528:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:103024528:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:103024528:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:103024528:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:103024528:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:103024528:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:103024528:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:103024528:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:103024528:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:103024528:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FBXL13 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.103024541_103024552del, NC_000007.14:g.103024542_103024552del, NC_000007.14:g.103024543_103024552del, NC_000007.14:g.103024545_103024552del, NC_000007.14:g.103024546_103024552del, NC_000007.14:g.103024548_103024552del, NC_000007.14:g.103024549_103024552del, NC_000007.14:g.103024550_103024552del, NC_000007.14:g.103024551_103024552del, NC_000007.14:g.103024552del, NC_000007.14:g.103024552dup, NC_000007.14:g.103024551_103024552dup, NC_000007.14:g.103024550_103024552dup, NC_000007.14:g.103024549_103024552dup, NC_000007.14:g.103024548_103024552dup, NC_000007.14:g.103024543_103024552dup, NC_000007.14:g.103024552_103024553insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.103024552_103024553insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.102664988_102664999del, NC_000007.13:g.102664989_102664999del, NC_000007.13:g.102664990_102664999del, NC_000007.13:g.102664992_102664999del, NC_000007.13:g.102664993_102664999del, NC_000007.13:g.102664995_102664999del, NC_000007.13:g.102664996_102664999del, NC_000007.13:g.102664997_102664999del, NC_000007.13:g.102664998_102664999del, NC_000007.13:g.102664999del, NC_000007.13:g.102664999dup, NC_000007.13:g.102664998_102664999dup, NC_000007.13:g.102664997_102664999dup, NC_000007.13:g.102664996_102664999dup, NC_000007.13:g.102664995_102664999dup, NC_000007.13:g.102664990_102664999dup, NC_000007.13:g.102664999_102665000insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.102664999_102665000insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149147840417.

rs1491478404 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 7:102912671 (GRCh38)
7:102553118 (GRCh37)
Canonical SPDI:: NC_000007.14:102912670:AC:
Gene:: LRRC17 (Varview), FBXL13 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000007.14:g.102912671_102912672del, NC_000007.13:g.102553118_102553119del

Select item 149146755518.

rs1491467555 [Homo sapiens]

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

Select item 149146160919.

rs1491461609 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:102912684 (GRCh38)
7:102553131 (GRCh37)
Canonical SPDI:: NC_000007.14:102912683:CA:
Gene:: LRRC17 (Varview), FBXL13 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000025/3 (GnomAD)
HGVS:: NC_000007.14:g.102912684_102912685del, NC_000007.13:g.102553131_102553132del

Select item 149142767220.

rs1491427672 has merged into rs772728840 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATATATATATATATATATATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 7:103060031 (GRCh38)
7:102700478 (GRCh37)
Canonical SPDI:: NC_000007.14:103060020:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATA,NC_000007.14:103060020:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATA,NC_000007.14:103060020:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATA,NC_000007.14:103060020:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATA,NC_000007.14:103060020:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATA,NC_000007.14:103060020:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATA,NC_000007.14:103060020:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATA,NC_000007.14:103060020:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATA,NC_000007.14:103060020:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATA,NC_000007.14:103060020:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATA,NC_000007.14:103060020:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATA,NC_000007.14:103060020:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATA,NC_000007.14:103060020:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATA,NC_000007.14:103060020:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATA,NC_000007.14:103060020:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATA,NC_000007.14:103060020:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATA,NC_000007.14:103060020:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATA,NC_000007.14:103060020:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATA,NC_000007.14:103060020:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATA,NC_000007.14:103060020:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000007.14:103060020:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000007.14:103060020:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000007.14:103060020:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000007.14:103060020:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000007.14:103060020:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000007.14:103060020:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000007.14:103060020:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
Gene:: FBXL13 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATA=0./0 (ALFA)
TATATATATATATATATATATATATA=0.075/3 (GENOME_DK)
HGVS:: NC_000007.14:g.103060021TA[5], NC_000007.14:g.103060021TA[6], NC_000007.14:g.103060021TA[7], NC_000007.14:g.103060021TA[8], NC_000007.14:g.103060021TA[9], NC_000007.14:g.103060021TA[10], NC_000007.14:g.103060021TA[11], NC_000007.14:g.103060021TA[12], NC_000007.14:g.103060021TA[13], NC_000007.14:g.103060021TA[14], NC_000007.14:g.103060021TA[15], NC_000007.14:g.103060021TA[16], NC_000007.14:g.103060021TA[17], NC_000007.14:g.103060021TA[18], NC_000007.14:g.103060021TA[19], NC_000007.14:g.103060021TA[20], NC_000007.14:g.103060021TA[21], NC_000007.14:g.103060021TA[23], NC_000007.14:g.103060021TA[24], NC_000007.14:g.103060021TA[25], NC_000007.14:g.103060021TA[26], NC_000007.14:g.103060021TA[27], NC_000007.14:g.103060021TA[28], NC_000007.14:g.103060021TA[29], NC_000007.14:g.103060021TA[30], NC_000007.14:g.103060021TA[31], NC_000007.14:g.103060021TA[32], NC_000007.13:g.102700468TA[5], NC_000007.13:g.102700468TA[6], NC_000007.13:g.102700468TA[7], NC_000007.13:g.102700468TA[8], NC_000007.13:g.102700468TA[9], NC_000007.13:g.102700468TA[10], NC_000007.13:g.102700468TA[11], NC_000007.13:g.102700468TA[12], NC_000007.13:g.102700468TA[13], NC_000007.13:g.102700468TA[14], NC_000007.13:g.102700468TA[15], NC_000007.13:g.102700468TA[16], NC_000007.13:g.102700468TA[17], NC_000007.13:g.102700468TA[18], NC_000007.13:g.102700468TA[19], NC_000007.13:g.102700468TA[20], NC_000007.13:g.102700468TA[21], NC_000007.13:g.102700468TA[23], NC_000007.13:g.102700468TA[24], NC_000007.13:g.102700468TA[25], NC_000007.13:g.102700468TA[26], NC_000007.13:g.102700468TA[27], NC_000007.13:g.102700468TA[28], NC_000007.13:g.102700468TA[29], NC_000007.13:g.102700468TA[30], NC_000007.13:g.102700468TA[31], NC_000007.13:g.102700468TA[32]

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