SNP Links for Gene (Select 130367) - SNP

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Select item 14915604081.

rs1491560408 has merged into rs750932260 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:222540827 (GRCh38)
2:223405546 (GRCh37)
Canonical SPDI:: NC_000002.12:222540817:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:222540817:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:222540817:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:222540817:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:222540817:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:222540817:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:222540817:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:222540817:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:222540817:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:222540817:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:222540817:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:222540817:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:222540817:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:222540817:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:222540817:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:222540817:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:222540817:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SGPP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.222540827_222540836del, NC_000002.12:g.222540828_222540836del, NC_000002.12:g.222540829_222540836del, NC_000002.12:g.222540830_222540836del, NC_000002.12:g.222540832_222540836del, NC_000002.12:g.222540833_222540836del, NC_000002.12:g.222540834_222540836del, NC_000002.12:g.222540835_222540836del, NC_000002.12:g.222540836del, NC_000002.12:g.222540836dup, NC_000002.12:g.222540835_222540836dup, NC_000002.12:g.222540834_222540836dup, NC_000002.12:g.222540833_222540836dup, NC_000002.12:g.222540832_222540836dup, NC_000002.12:g.222540831_222540836dup, NC_000002.12:g.222540830_222540836dup, NC_000002.12:g.222540828_222540836dup, NC_000002.11:g.223405546_223405555del, NC_000002.11:g.223405547_223405555del, NC_000002.11:g.223405548_223405555del, NC_000002.11:g.223405549_223405555del, NC_000002.11:g.223405551_223405555del, NC_000002.11:g.223405552_223405555del, NC_000002.11:g.223405553_223405555del, NC_000002.11:g.223405554_223405555del, NC_000002.11:g.223405555del, NC_000002.11:g.223405555dup, NC_000002.11:g.223405554_223405555dup, NC_000002.11:g.223405553_223405555dup, NC_000002.11:g.223405552_223405555dup, NC_000002.11:g.223405551_223405555dup, NC_000002.11:g.223405550_223405555dup, NC_000002.11:g.223405549_223405555dup, NC_000002.11:g.223405547_223405555dup

Select item 14915347452.

rs1491534745 has merged into rs759450975 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT,GTGTGT [Show Flanks]
Chromosome:: 2:222477339 (GRCh38)
2:223342058 (GRCh37)
Canonical SPDI:: NC_000002.12:222477331:TGTGTGTGTGT:TGTGTGT,NC_000002.12:222477331:TGTGTGTGTGT:TGTGTGTGT,NC_000002.12:222477331:TGTGTGTGTGT:TGTGTGTGTGTGT
Gene:: SGPP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGT=0./0 (ALFA)
TG=0.000015/4 (TOPMED)
-=0.00008/1 (TOMMO)
-=0.001618/6 (TWINSUK)
-=0.002076/8 (ALSPAC)
HGVS:: NC_000002.12:g.222477333GT[3], NC_000002.12:g.222477333GT[4], NC_000002.12:g.222477333GT[6], NC_000002.11:g.223342052GT[3], NC_000002.11:g.223342052GT[4], NC_000002.11:g.223342052GT[6]

Select item 14915248763.

rs1491524876 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CACACATATATATGTGTATATATA,CACATATATATATGTGTATATATATACACACATATACACATATACATATATATATACACATATATATGTGTATATATA,CACATATATATGTGTATATATA,CACATATATATGTGTATATATAAACATATATATGTGTATATATA,CACATATATATGTGTATATATACACATATATATGTGTATATATA [Show Flanks]
Chromosome:: 2:222435029 (GRCh38)
2:223299749 (GRCh37)
Canonical SPDI:: NC_000002.12:222435029:ATATATATGTGTATATATA:ATATATATGTGTATATATACACACATATATATGTGTATATATA,NC_000002.12:222435029:ATATATATGTGTATATATA:ATATATATGTGTATATATACACATATATATATGTGTATATATATACACACATATACACATATACATATATATATACACATATATATGTGTATATATA,NC_000002.12:222435029:ATATATATGTGTATATATA:ATATATATGTGTATATATACACATATATATGTGTATATATA,NC_000002.12:222435029:ATATATATGTGTATATATA:ATATATATGTGTATATATACACATATATATGTGTATATATAAACATATATATGTGTATATATA,NC_000002.12:222435029:ATATATATGTGTATATATA:ATATATATGTGTATATATACACATATATATGTGTATATATACACATATATATGTGTATATATA
Gene:: SGPP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATGTGTATATATACACATATATATGTGTATATATA=0.00026/3 (ALFA)
ATATATATGTGTATATATACAC=0.0017/27 (TOMMO)
ATATATATGTGTATATATACAC=0.00561/10 (Korea1K)
HGVS:: NC_000002.12:g.222435030_222435048AT[4]GT[2]AT[3]AC[3]AT[4]GT[2]AT[3]A[1], NC_000002.12:g.222435030_222435048AT[4]GT[2]AT[3]AC[2]AT[5]GT[2]AT[4]AC[3]AT[2]AC[2]AT[2]ACATATATATATACACATATATATGTGTATATATA[1], NC_000002.12:g.222435030_222435048AT[4]GT[2]AT[3]AC[2]AT[4]GT[2]AT[3]A[1], NC_000002.12:g.222435030_222435048AT[4]GT[2]AT[3]AC[2]AT[4]GT[2]AT[3]AAACATATATATGTGTATATATA[1], NC_000002.12:g.222435048_222435049insCACATATATATGTGTATATATACACATATATATGTGTATATATA, NC_000002.11:g.223299749_223299767AT[4]GT[2]AT[3]AC[3]AT[4]GT[2]AT[3]A[1], NC_000002.11:g.223299749_223299767AT[4]GT[2]AT[3]AC[2]AT[5]GT[2]AT[4]AC[3]AT[2]AC[2]AT[2]ACATATATATATACACATATATATGTGTATATATA[1], NC_000002.11:g.223299749_223299767AT[4]GT[2]AT[3]AC[2]AT[4]GT[2]AT[3]A[1], NC_000002.11:g.223299749_223299767AT[4]GT[2]AT[3]AC[2]AT[4]GT[2]AT[3]AAACATATATATGTGTATATATA[1], NC_000002.11:g.223299767_223299768insCACATATATATGTGTATATATACACATATATATGTGTATATATA

Select item 14915089544.

rs1491508954 [Homo sapiens]

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

Select item 14914998925.

rs1491499892 [Homo sapiens]

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

Select item 14914817146.

rs1491481714 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 2:222561534 (GRCh38)
2:223426253 (GRCh37)
Canonical SPDI:: NC_000002.12:222561531:TTTT:TT
Gene:: SGPP2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: TTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.222561534_222561535del, NC_000002.11:g.223426253_223426254del, NM_152386.4:c.*2636_*2637del, NM_152386.3:c.*2636_*2637del, NM_001320833.2:c.*2636_*2637del, NM_001320833.1:c.*2636_*2637del, NM_001320834.2:c.*2636_*2637del, NM_001320834.1:c.*2636_*2637del

Select item 14914736497.

rs1491473649 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTTT [Show Flanks]
Chromosome:: 2:222478267 (GRCh38)
2:223342986 (GRCh37)
Canonical SPDI:: NC_000002.12:222478265:TTT:T,NC_000002.12:222478265:TTT:TTTTT
Gene:: SGPP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTT=0./0 (ALFA)
-=0.00003/2 (GnomAD)
HGVS:: NC_000002.12:g.222478267_222478268del, NC_000002.12:g.222478267_222478268dup, NC_000002.11:g.223342986_223342987del, NC_000002.11:g.223342986_223342987dup

Select item 14913775048.

rs1491377504 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:222505504 (GRCh38)
2:223370223 (GRCh37)
Canonical SPDI:: NC_000002.12:222505501:CACA:CA
Gene:: SGPP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.222505502CA[1], NC_000002.11:g.223370221CA[1]

Select item 14913532799.

rs1491353279 has merged into rs5838955 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:222546835 (GRCh38)
2:223411554 (GRCh37)
Canonical SPDI:: NC_000002.12:222546825:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:222546825:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:222546825:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:222546825:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:222546825:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:222546825:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:222546825:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:222546825:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:222546825:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:222546825:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:222546825:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:222546825:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:222546825:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: SGPP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.222546835_222546843del, NC_000002.12:g.222546836_222546843del, NC_000002.12:g.222546837_222546843del, NC_000002.12:g.222546838_222546843del, NC_000002.12:g.222546839_222546843del, NC_000002.12:g.222546840_222546843del, NC_000002.12:g.222546841_222546843del, NC_000002.12:g.222546842_222546843del, NC_000002.12:g.222546843del, NC_000002.12:g.222546843dup, NC_000002.12:g.222546842_222546843dup, NC_000002.12:g.222546841_222546843dup, NC_000002.12:g.222546840_222546843dup, NC_000002.11:g.223411554_223411562del, NC_000002.11:g.223411555_223411562del, NC_000002.11:g.223411556_223411562del, NC_000002.11:g.223411557_223411562del, NC_000002.11:g.223411558_223411562del, NC_000002.11:g.223411559_223411562del, NC_000002.11:g.223411560_223411562del, NC_000002.11:g.223411561_223411562del, NC_000002.11:g.223411562del, NC_000002.11:g.223411562dup, NC_000002.11:g.223411561_223411562dup, NC_000002.11:g.223411560_223411562dup, NC_000002.11:g.223411559_223411562dup

Select item 149133252410.

rs1491332524 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:222505502 (GRCh38)
2:223370222 (GRCh37)
Canonical SPDI:: NC_000002.12:222505502:A:AA
Gene:: SGPP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.222505503dup, NC_000002.11:g.223370222dup

Select item 149132270211.

rs1491322702 has merged into rs140612447 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATACACATATATATAT,ATACACATATATATATGTGTATATATACACATATATATAT,ATAT,ATATACACATATATATAT,ATATGTGTATATATACACATATATATAT [Show Flanks]
Chromosome:: 2:222435036 (GRCh38)
2:223299755 (GRCh37)
Canonical SPDI:: NC_000002.12:222435028:TATATATAT:TATATAT,NC_000002.12:222435028:TATATATAT:TATATATATACACATATATATAT,NC_000002.12:222435028:TATATATAT:TATATATATACACATATATATATGTGTATATATACACATATATATAT,NC_000002.12:222435028:TATATATAT:TATATATATAT,NC_000002.12:222435028:TATATATAT:TATATATATATACACATATATATAT,NC_000002.12:222435028:TATATATAT:TATATATATATGTGTATATATACACATATATATAT
Gene:: SGPP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATAT=0./0 (ALFA)
TATATATATACACA=0.00055/1 (Korea1K)
HGVS:: NC_000002.12:g.222435030AT[3], NC_000002.12:g.222435029_222435037TA[5]CA[2]TA[4]T[1], NC_000002.12:g.222435029_222435037TA[5]CA[2]TA[4]TG[2]TA[4]CA[2]TA[4]T[1], NC_000002.12:g.222435030AT[5], NC_000002.12:g.222435029_222435037TA[6]CA[2]TA[4]T[1], NC_000002.12:g.222435029_222435037TA[5]TG[2]TA[4]CA[2]TA[4]T[1], NC_000002.11:g.223299749AT[3], NC_000002.11:g.223299748_223299756TA[5]CA[2]TA[4]T[1], NC_000002.11:g.223299748_223299756TA[5]CA[2]TA[4]TG[2]TA[4]CA[2]TA[4]T[1], NC_000002.11:g.223299749AT[5], NC_000002.11:g.223299748_223299756TA[6]CA[2]TA[4]T[1], NC_000002.11:g.223299748_223299756TA[5]TG[2]TA[4]CA[2]TA[4]T[1]

Select item 149130260612.

rs1491302606 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:222430091 (GRCh38)
2:223294811 (GRCh37)
Canonical SPDI:: NC_000002.12:222430091::G
Gene:: SGPP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00013/1 (GnomAD)
HGVS:: NC_000002.12:g.222430091_222430092insG, NC_000002.11:g.223294810_223294811insG

Select item 149124454313.

rs1491244543 has merged into rs1222487347 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>-,TGTG [Show Flanks]
Chromosome:: 2:222476690 (GRCh38)
2:223341409 (GRCh37)
Canonical SPDI:: NC_000002.12:222476679:TGTGTGTGTGTG:TGTGTGTGTG,NC_000002.12:222476679:TGTGTGTGTGTG:TGTGTGTGTGTGTG
Gene:: SGPP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTG=0./0 (ALFA)
HGVS:: NC_000002.12:g.222476680TG[5], NC_000002.12:g.222476680TG[7], NC_000002.11:g.223341399TG[5], NC_000002.11:g.223341399TG[7]

Select item 149116353414.

rs1491163534 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>- [Show Flanks]
Chromosome:: 2:222559176 (GRCh38)
2:223423895 (GRCh37)
Canonical SPDI:: NC_000002.12:222559174:CGC:C
Gene:: SGPP2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.0042/54 (TOMMO)
-=0.01878/32 (Korea1K)
HGVS:: NC_000002.12:g.222559176_222559177del, NC_000002.11:g.223423895_223423896del, NM_152386.4:c.*278_*279del, NM_152386.3:c.*278_*279del, NM_001320833.2:c.*278_*279del, NM_001320833.1:c.*278_*279del, NM_001320834.2:c.*278_*279del, NM_001320834.1:c.*278_*279del

Select item 149115443415.

rs1491154434 [Homo sapiens]

Variant type:: INS
Alleles:: ->TA [Show Flanks]
Chromosome:: 2:222466277 (GRCh38)
2:223330997 (GRCh37)
Canonical SPDI:: NC_000002.12:222466277::TA
Gene:: SGPP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TA=0./0 (ALFA)
HGVS:: NC_000002.12:g.222466277_222466278insTA, NC_000002.11:g.223330996_223330997insTA

Select item 149115012916.

rs1491150129 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:222478266 (GRCh38)
2:223342986 (GRCh37)
Canonical SPDI:: NC_000002.12:222478266::G
Gene:: SGPP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.00234/15 (1000Genomes)
G=0.00266/173 (GnomAD)
HGVS:: NC_000002.12:g.222478266_222478267insG, NC_000002.11:g.223342985_223342986insG

Select item 149113650017.

rs1491136500 has merged into rs5838949 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
Chromosome:: 2:222430097 (GRCh38)
2:223294816 (GRCh37)
Canonical SPDI:: NC_000002.12:222430090:AAAAAAAA:AAAAAA,NC_000002.12:222430090:AAAAAAAA:AAAAAAA,NC_000002.12:222430090:AAAAAAAA:AAAAAAAAA,NC_000002.12:222430090:AAAAAAAA:AAAAAAAAAA,NC_000002.12:222430090:AAAAAAAA:AAAAAAAAAAA
Gene:: SGPP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.225/9 (GENOME_DK)
-=0.2381/883 (TWINSUK)
-=0.2413/442 (Korea1K)
-=0.2471/1107 (Estonian)
-=0.2481/956 (ALSPAC)
-=0.25/150 (NorthernSweden)
-=0.2524/1264 (1000Genomes)
-=0.2856/285 (GoNL)
HGVS:: NC_000002.12:g.222430097_222430098del, NC_000002.12:g.222430098del, NC_000002.12:g.222430098dup, NC_000002.12:g.222430097_222430098dup, NC_000002.12:g.222430096_222430098dup, NC_000002.11:g.223294816_223294817del, NC_000002.11:g.223294817del, NC_000002.11:g.223294817dup, NC_000002.11:g.223294816_223294817dup, NC_000002.11:g.223294815_223294817dup

Select item 149105906418.

rs1491059064 has merged into rs59881994 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAACCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAACCAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAACACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAATACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:222426221 (GRCh38)
2:223290940 (GRCh37)
Canonical SPDI:: NC_000002.12:222426209:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:222426209:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:222426209:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:222426209:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:222426209:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:222426209:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:222426209:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:222426209:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:222426209:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:222426209:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:222426209:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:222426209:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:222426209:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:222426209:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:222426209:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:222426209:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:222426209:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:222426209:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:222426209:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:222426209:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:222426209:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:222426209:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:222426209:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAACCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:222426209:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAACCAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:222426209:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:222426209:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAACACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:222426209:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAATACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SGPP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.125/5 (GENOME_DK)
HGVS:: NC_000002.12:g.222426221_222426234del, NC_000002.12:g.222426222_222426234del, NC_000002.12:g.222426223_222426234del, NC_000002.12:g.222426224_222426234del, NC_000002.12:g.222426225_222426234del, NC_000002.12:g.222426226_222426234del, NC_000002.12:g.222426227_222426234del, NC_000002.12:g.222426228_222426234del, NC_000002.12:g.222426229_222426234del, NC_000002.12:g.222426230_222426234del, NC_000002.12:g.222426231_222426234del, NC_000002.12:g.222426232_222426234del, NC_000002.12:g.222426233_222426234del, NC_000002.12:g.222426234del, NC_000002.12:g.222426234dup, NC_000002.12:g.222426233_222426234dup, NC_000002.12:g.222426232_222426234dup, NC_000002.12:g.222426231_222426234dup, NC_000002.12:g.222426230_222426234dup, NC_000002.12:g.222426229_222426234dup, NC_000002.12:g.222426228_222426234dup, NC_000002.12:g.222426210_222426234A[29]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.12:g.222426210_222426234A[28]CCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.12:g.222426210_222426234A[28]CCAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.12:g.222426210_222426234A[27]CAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.12:g.222426210_222426234A[26]CA[2]A[29], NC_000002.12:g.222426210_222426234A[25]TACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.11:g.223290940_223290953del, NC_000002.11:g.223290941_223290953del, NC_000002.11:g.223290942_223290953del, NC_000002.11:g.223290943_223290953del, NC_000002.11:g.223290944_223290953del, NC_000002.11:g.223290945_223290953del, NC_000002.11:g.223290946_223290953del, NC_000002.11:g.223290947_223290953del, NC_000002.11:g.223290948_223290953del, NC_000002.11:g.223290949_223290953del, NC_000002.11:g.223290950_223290953del, NC_000002.11:g.223290951_223290953del, NC_000002.11:g.223290952_223290953del, NC_000002.11:g.223290953del, NC_000002.11:g.223290953dup, NC_000002.11:g.223290952_223290953dup, NC_000002.11:g.223290951_223290953dup, NC_000002.11:g.223290950_223290953dup, NC_000002.11:g.223290949_223290953dup, NC_000002.11:g.223290948_223290953dup, NC_000002.11:g.223290947_223290953dup, NC_000002.11:g.223290929_223290953A[29]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.11:g.223290929_223290953A[28]CCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.11:g.223290929_223290953A[28]CCAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.11:g.223290929_223290953A[27]CAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.11:g.223290929_223290953A[26]CA[2]A[29], NC_000002.11:g.223290929_223290953A[25]TACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 149103811919.

rs1491038119 has merged into rs5838951 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 2:222455229 (GRCh38)
2:223319948 (GRCh37)
Canonical SPDI:: NC_000002.12:222455217:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:222455217:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:222455217:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:222455217:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: SGPP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.1578/306 (1000Genomes)
-=0.2322/861 (TWINSUK)
-=0.2436/939 (ALSPAC)
HGVS:: NC_000002.12:g.222455229_222455230del, NC_000002.12:g.222455230del, NC_000002.12:g.222455230dup, NC_000002.12:g.222455229_222455230dup, NC_000002.11:g.223319948_223319949del, NC_000002.11:g.223319949del, NC_000002.11:g.223319949dup, NC_000002.11:g.223319948_223319949dup

Select item 149103280820.

rs1491032808 has merged into rs200271785 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 2:222561115 (GRCh38)
2:223425834 (GRCh37)
Canonical SPDI:: NC_000002.12:222561102:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:222561102:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:222561102:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:222561102:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:222561102:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:222561102:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:222561102:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: SGPP2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
A=0.19928/998 (1000Genomes)
HGVS:: NC_000002.12:g.222561115_222561117del, NC_000002.12:g.222561116_222561117del, NC_000002.12:g.222561117del, NC_000002.12:g.222561117dup, NC_000002.12:g.222561116_222561117dup, NC_000002.12:g.222561115_222561117dup, NC_000002.12:g.222561111_222561117dup, NC_000002.11:g.223425834_223425836del, NC_000002.11:g.223425835_223425836del, NC_000002.11:g.223425836del, NC_000002.11:g.223425836dup, NC_000002.11:g.223425835_223425836dup, NC_000002.11:g.223425834_223425836dup, NC_000002.11:g.223425830_223425836dup, NM_152386.4:c.*2217_*2219del, NM_152386.4:c.*2218_*2219del, NM_152386.4:c.*2219del, NM_152386.4:c.*2219dup, NM_152386.4:c.*2218_*2219dup, NM_152386.4:c.*2217_*2219dup, NM_152386.4:c.*2213_*2219dup, NM_152386.3:c.*2217_*2219del, NM_152386.3:c.*2218_*2219del, NM_152386.3:c.*2219del, NM_152386.3:c.*2219dup, NM_152386.3:c.*2218_*2219dup, NM_152386.3:c.*2217_*2219dup, NM_152386.3:c.*2213_*2219dup, NM_001320833.2:c.*2217_*2219del, NM_001320833.2:c.*2218_*2219del, NM_001320833.2:c.*2219del, NM_001320833.2:c.*2219dup, NM_001320833.2:c.*2218_*2219dup, NM_001320833.2:c.*2217_*2219dup, NM_001320833.2:c.*2213_*2219dup, NM_001320833.1:c.*2217_*2219del, NM_001320833.1:c.*2218_*2219del, NM_001320833.1:c.*2219del, NM_001320833.1:c.*2219dup, NM_001320833.1:c.*2218_*2219dup, NM_001320833.1:c.*2217_*2219dup, NM_001320833.1:c.*2213_*2219dup, NM_001320834.2:c.*2217_*2219del, NM_001320834.2:c.*2218_*2219del, NM_001320834.2:c.*2219del, NM_001320834.2:c.*2219dup, NM_001320834.2:c.*2218_*2219dup, NM_001320834.2:c.*2217_*2219dup, NM_001320834.2:c.*2213_*2219dup, NM_001320834.1:c.*2217_*2219del, NM_001320834.1:c.*2218_*2219del, NM_001320834.1:c.*2219del, NM_001320834.1:c.*2219dup, NM_001320834.1:c.*2218_*2219dup, NM_001320834.1:c.*2217_*2219dup, NM_001320834.1:c.*2213_*2219dup

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