SNP Links for Nucleotide (Select 340805819) - SNP

Links from Nucleotide

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Select item 14912771031.

rs1491277103 has merged into rs144390955 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GG,GGGG,GGGGG [Show Flanks]
Chromosome:: 3:47562788 (GRCh38)
3:47604278 (GRCh37)
Canonical SPDI:: NC_000003.12:47562780:GGGGGGGGGG:GGGGGGG,NC_000003.12:47562780:GGGGGGGGGG:GGGGGGGG,NC_000003.12:47562780:GGGGGGGGGG:GGGGGGGGG,NC_000003.12:47562780:GGGGGGGGGG:GGGGGGGGGGG,NC_000003.12:47562780:GGGGGGGGGG:GGGGGGGGGGGG
Gene:: CSPG5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGG=0./0 (ALFA)
-=0.075/3 (GENOME_DK)
HGVS:: NC_000003.12:g.47562788_47562790del, NC_000003.12:g.47562789_47562790del, NC_000003.12:g.47562790del, NC_000003.12:g.47562790dup, NC_000003.12:g.47562789_47562790dup, NC_000003.11:g.47604278_47604280del, NC_000003.11:g.47604279_47604280del, NC_000003.11:g.47604280del, NC_000003.11:g.47604280dup, NC_000003.11:g.47604279_47604280dup, NG_029493.1:g.22458_22460del, NG_029493.1:g.22459_22460del, NG_029493.1:g.22460del, NG_029493.1:g.22460dup, NG_029493.1:g.22459_22460dup

Select item 14909825832.

rs1490982583 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:47570084 (GRCh38)
3:47611574 (GRCh37)
Canonical SPDI:: NC_000003.12:47570083:T:C
Gene:: CSPG5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.47570084T>C, NC_000003.11:g.47611574T>C, NG_029493.1:g.15157A>G

Select item 14909467663.

rs1490946766 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:47575069 (GRCh38)
3:47616559 (GRCh37)
Canonical SPDI:: NC_000003.12:47575068:T:G
Gene:: CSPG5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.47575069T>G, NC_000003.11:g.47616559T>G, NG_029493.1:g.10172A>C

Select item 14909139284.

rs1490913928 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:47577755 (GRCh38)
3:47619245 (GRCh37)
Canonical SPDI:: NC_000003.12:47577754:C:G,NC_000003.12:47577754:C:T
Gene:: CSPG5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0.00008/1 (ALFA)
HGVS:: NC_000003.12:g.47577755C>G, NC_000003.12:g.47577755C>T, NC_000003.11:g.47619245C>G, NC_000003.11:g.47619245C>T, NG_029493.1:g.7486G>C, NG_029493.1:g.7486G>A, NM_006574.4:c.271G>C, NM_006574.4:c.271G>A, NM_006574.3:c.271G>C, NM_006574.3:c.271G>A, NM_001206945.2:c.-144G>C, NM_001206945.2:c.-144G>A, NM_001206945.1:c.-144G>C, NM_001206945.1:c.-144G>A, NM_001206942.2:c.-144G>C, NM_001206942.2:c.-144G>A, NM_001206942.1:c.-144G>C, NM_001206942.1:c.-144G>A, NM_001206943.2:c.271G>C, NM_001206943.2:c.271G>A, NM_001206943.1:c.271G>C, NM_001206943.1:c.271G>A, NM_001206944.2:c.271G>C, NM_001206944.2:c.271G>A, NM_001206944.1:c.271G>C, NM_001206944.1:c.271G>A, XM_047447332.1:c.-144G>C, XM_047447332.1:c.-144G>A, NP_006565.2:p.Glu91Gln, NP_006565.2:p.Glu91Lys, NP_001193872.1:p.Glu91Gln, NP_001193872.1:p.Glu91Lys, NP_001193873.1:p.Glu91Gln, NP_001193873.1:p.Glu91Lys

Select item 14907264355.

rs1490726435 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:47573994 (GRCh38)
3:47615484 (GRCh37)
Canonical SPDI:: NC_000003.12:47573993:A:G
Gene:: CSPG5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.47573994A>G, NC_000003.11:g.47615484A>G, NG_029493.1:g.11247T>C

Select item 14906199096.

rs1490619909 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:47564041 (GRCh38)
3:47605531 (GRCh37)
Canonical SPDI:: NC_000003.12:47564040:G:A
Gene:: CSPG5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.47564041G>A, NC_000003.11:g.47605531G>A, NG_029493.1:g.21200C>T

Select item 14905469987.

rs1490546998 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:47580853 (GRCh38)
3:47622343 (GRCh37)
Canonical SPDI:: NC_000003.12:47580852:T:C
Gene:: CSPG5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.47580853T>C, NC_000003.11:g.47622343T>C, NG_029493.1:g.4388A>G

Select item 14901141178.

rs1490114117 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:47564642 (GRCh38)
3:47606132 (GRCh37)
Canonical SPDI:: NC_000003.12:47564641:A:G
Gene:: CSPG5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000003.12:g.47564642A>G, NC_000003.11:g.47606132A>G, NG_029493.1:g.20599T>C

Select item 14900948539.

rs1490094853 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:47577447 (GRCh38)
3:47618937 (GRCh37)
Canonical SPDI:: NC_000003.12:47577446:G:A,NC_000003.12:47577446:G:T
Gene:: CSPG5 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,synonymous_variant
HGVS:: NC_000003.12:g.47577447G>A, NC_000003.12:g.47577447G>T, NC_000003.11:g.47618937G>A, NC_000003.11:g.47618937G>T, NG_029493.1:g.7794C>T, NG_029493.1:g.7794C>A, NM_006574.4:c.579C>T, NM_006574.4:c.579C>A, NM_006574.3:c.579C>T, NM_006574.3:c.579C>A, NM_001206945.2:c.165C>T, NM_001206945.2:c.165C>A, NM_001206945.1:c.165C>T, NM_001206945.1:c.165C>A, NM_001206942.2:c.165C>T, NM_001206942.2:c.165C>A, NM_001206942.1:c.165C>T, NM_001206942.1:c.165C>A, NM_001206943.2:c.579C>T, NM_001206943.2:c.579C>A, NM_001206943.1:c.579C>T, NM_001206943.1:c.579C>A, NM_001206944.2:c.579C>T, NM_001206944.2:c.579C>A, NM_001206944.1:c.579C>T, NM_001206944.1:c.579C>A, XM_047447332.1:c.165C>T, XM_047447332.1:c.165C>A, NP_006565.2:p.Tyr193Ter, NP_001193874.1:p.Tyr55Ter, NP_001193871.1:p.Tyr55Ter, NP_001193872.1:p.Tyr193Ter, NP_001193873.1:p.Tyr193Ter, XP_047303288.1:p.Tyr55Ter

Select item 148913350510.

rs1489133505 [Homo sapiens]

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

Select item 148910832211.

rs1489108322 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:47566569 (GRCh38)
3:47608059 (GRCh37)
Canonical SPDI:: NC_000003.12:47566568:A:G
Gene:: CSPG5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.47566569A>G, NC_000003.11:g.47608059A>G, NG_029493.1:g.18672T>C

Select item 148898357812.

rs1488983578 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:47578896 (GRCh38)
3:47620386 (GRCh37)
Canonical SPDI:: NC_000003.12:47578895:T:A
Gene:: CSPG5 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000003.12:g.47578896T>A, NC_000003.11:g.47620386T>A, NG_029493.1:g.6345A>T

Select item 148882589313.

rs1488825893 has merged into rs370578310 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:47575940 (GRCh38)
3:47617430 (GRCh37)
Canonical SPDI:: NC_000003.12:47575929:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:47575929:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:47575929:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:47575929:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:47575929:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:47575929:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:47575929:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:47575929:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:47575929:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:47575929:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:47575929:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:47575929:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47575929:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47575929:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47575929:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47575929:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47575929:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47575929:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47575929:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47575929:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47575929:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47575929:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47575929:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47575929:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47575929:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47575929:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47575929:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47575929:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:47575929:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CSPG5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000003.12:g.47575940_47575954del, NC_000003.12:g.47575941_47575954del, NC_000003.12:g.47575942_47575954del, NC_000003.12:g.47575943_47575954del, NC_000003.12:g.47575944_47575954del, NC_000003.12:g.47575945_47575954del, NC_000003.12:g.47575946_47575954del, NC_000003.12:g.47575947_47575954del, NC_000003.12:g.47575948_47575954del, NC_000003.12:g.47575949_47575954del, NC_000003.12:g.47575950_47575954del, NC_000003.12:g.47575951_47575954del, NC_000003.12:g.47575952_47575954del, NC_000003.12:g.47575953_47575954del, NC_000003.12:g.47575954del, NC_000003.12:g.47575954dup, NC_000003.12:g.47575953_47575954dup, NC_000003.12:g.47575952_47575954dup, NC_000003.12:g.47575951_47575954dup, NC_000003.12:g.47575950_47575954dup, NC_000003.12:g.47575949_47575954dup, NC_000003.12:g.47575948_47575954dup, NC_000003.12:g.47575947_47575954dup, NC_000003.12:g.47575946_47575954dup, NC_000003.12:g.47575945_47575954dup, NC_000003.12:g.47575944_47575954dup, NC_000003.12:g.47575943_47575954dup, NC_000003.12:g.47575942_47575954dup, NC_000003.12:g.47575954_47575955insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.47617430_47617444del, NC_000003.11:g.47617431_47617444del, NC_000003.11:g.47617432_47617444del, NC_000003.11:g.47617433_47617444del, NC_000003.11:g.47617434_47617444del, NC_000003.11:g.47617435_47617444del, NC_000003.11:g.47617436_47617444del, NC_000003.11:g.47617437_47617444del, NC_000003.11:g.47617438_47617444del, NC_000003.11:g.47617439_47617444del, NC_000003.11:g.47617440_47617444del, NC_000003.11:g.47617441_47617444del, NC_000003.11:g.47617442_47617444del, NC_000003.11:g.47617443_47617444del, NC_000003.11:g.47617444del, NC_000003.11:g.47617444dup, NC_000003.11:g.47617443_47617444dup, NC_000003.11:g.47617442_47617444dup, NC_000003.11:g.47617441_47617444dup, NC_000003.11:g.47617440_47617444dup, NC_000003.11:g.47617439_47617444dup, NC_000003.11:g.47617438_47617444dup, NC_000003.11:g.47617437_47617444dup, NC_000003.11:g.47617436_47617444dup, NC_000003.11:g.47617435_47617444dup, NC_000003.11:g.47617434_47617444dup, NC_000003.11:g.47617433_47617444dup, NC_000003.11:g.47617432_47617444dup, NC_000003.11:g.47617444_47617445insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029493.1:g.9297_9311del, NG_029493.1:g.9298_9311del, NG_029493.1:g.9299_9311del, NG_029493.1:g.9300_9311del, NG_029493.1:g.9301_9311del, NG_029493.1:g.9302_9311del, NG_029493.1:g.9303_9311del, NG_029493.1:g.9304_9311del, NG_029493.1:g.9305_9311del, NG_029493.1:g.9306_9311del, NG_029493.1:g.9307_9311del, NG_029493.1:g.9308_9311del, NG_029493.1:g.9309_9311del, NG_029493.1:g.9310_9311del, NG_029493.1:g.9311del, NG_029493.1:g.9311dup, NG_029493.1:g.9310_9311dup, NG_029493.1:g.9309_9311dup, NG_029493.1:g.9308_9311dup, NG_029493.1:g.9307_9311dup, NG_029493.1:g.9306_9311dup, NG_029493.1:g.9305_9311dup, NG_029493.1:g.9304_9311dup, NG_029493.1:g.9303_9311dup, NG_029493.1:g.9302_9311dup, NG_029493.1:g.9301_9311dup, NG_029493.1:g.9300_9311dup, NG_029493.1:g.9299_9311dup, NG_029493.1:g.9311_9312insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 148879690314.

rs1488796903 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:47575637 (GRCh38)
3:47617127 (GRCh37)
Canonical SPDI:: NC_000003.12:47575636:C:T
Gene:: CSPG5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.47575637C>T, NC_000003.11:g.47617127C>T, NG_029493.1:g.9604G>A

Select item 148864321915.

rs1488643219 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:47578440 (GRCh38)
3:47619930 (GRCh37)
Canonical SPDI:: NC_000003.12:47578439:C:G,NC_000003.12:47578439:C:T
Gene:: CSPG5 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.47578440C>G, NC_000003.12:g.47578440C>T, NC_000003.11:g.47619930C>G, NC_000003.11:g.47619930C>T, NG_029493.1:g.6801G>C, NG_029493.1:g.6801G>A

Select item 148864155216.

rs1488641552 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:47563044 (GRCh38)
3:47604534 (GRCh37)
Canonical SPDI:: NC_000003.12:47563043:G:A
Gene:: CSPG5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.47563044G>A, NC_000003.11:g.47604534G>A, NG_029493.1:g.22197C>T

Select item 148859060317.

rs1488590603 has merged into rs1215123965 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 3:47578317 (GRCh38)
3:47619807 (GRCh37)
Canonical SPDI:: NC_000003.12:47578316:CCCC:CCC,NC_000003.12:47578316:CCCC:CCCCC
Gene:: CSPG5 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0./0 (ALFA)
-=0.00003/3 (GnomAD)
HGVS:: NC_000003.12:g.47578320del, NC_000003.12:g.47578320dup, NC_000003.11:g.47619810del, NC_000003.11:g.47619810dup, NG_029493.1:g.6924del, NG_029493.1:g.6924dup

Select item 148838400118.

rs1488384001 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 3:47574956 (GRCh38)
3:47616447 (GRCh37)
Canonical SPDI:: NC_000003.12:47574956::C
Gene:: CSPG5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.47574956_47574957insC, NC_000003.11:g.47616446_47616447insC, NG_029493.1:g.10284_10285insG

Select item 148816262219.

rs1488162622 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:47583904 (GRCh38)
3:47625394 (GRCh37)
Canonical SPDI:: NC_000003.12:47583903:G:A,NC_000003.12:47583903:G:C
Validated:: by frequency,by cluster
MAF:: C=0.00004/1 (TOMMO)
HGVS:: NC_000003.12:g.47583904G>A, NC_000003.12:g.47583904G>C, NC_000003.11:g.47625394G>A, NC_000003.11:g.47625394G>C, NG_029493.1:g.1337C>T, NG_029493.1:g.1337C>G

Select item 148804217720.

rs1488042177 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:47574043 (GRCh38)
3:47615533 (GRCh37)
Canonical SPDI:: NC_000003.12:47574042:G:A
Gene:: CSPG5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000318/5 (TOMMO)
A=0.000342/1 (KOREAN)
HGVS:: NC_000003.12:g.47574043G>A, NC_000003.11:g.47615533G>A, NG_029493.1:g.11198C>T

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