SNP Links for Nucleotide (Select 237858802) - SNP

Links from Nucleotide

Items: 1 to 20 of 3510

<< First< Prev

Page of 176

Next >Last >>

Select item 14913208231.

rs1491320823 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:184376845 (GRCh38)
3:184094633 (GRCh37)
Canonical SPDI:: NC_000003.12:184376844:CA:
Gene:: THPO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000003.12:g.184376845_184376846del, NC_000003.11:g.184094633_184094634del, NG_029559.1:g.1773_1774del, NG_012136.1:g.6299_6300del

Select item 14910422652.

rs1491042265 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 3:184376862 (GRCh38)
3:184094650 (GRCh37)
Canonical SPDI:: NC_000003.12:184376860:AGA:A
Gene:: THPO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000811/112 (GnomAD)
HGVS:: NC_000003.12:g.184376862_184376863del, NC_000003.11:g.184094650_184094651del, NG_029559.1:g.1790_1791del, NG_012136.1:g.6283_6284del

Select item 14909462693.

rs1490946269 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:184381216 (GRCh38)
3:184099004 (GRCh37)
Canonical SPDI:: NC_000003.12:184381215:C:T
Gene:: THPO (Varview), CHRD (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.184381216C>T, NC_000003.11:g.184099004C>T, NG_029559.1:g.6144C>T, NG_012136.1:g.1929G>A

Select item 14909170254.

rs1490917025 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:184378313 (GRCh38)
3:184096101 (GRCh37)
Canonical SPDI:: NC_000003.12:184378312:C:G
Gene:: THPO (Varview), CHRD (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.184378313C>G, NC_000003.11:g.184096101C>G, NG_029559.1:g.3241C>G, NG_012136.1:g.4832G>C, NM_001290003.1:c.37G>C, NM_001289998.1:c.-384G>C, NM_001290022.1:c.-384G>C, NM_001290026.1:c.-384G>C, NM_001290027.1:c.-384G>C, NP_001276932.1:p.Val13Leu

Select item 14904090605.

rs1490409060 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:184379210 (GRCh38)
3:184096998 (GRCh37)
Canonical SPDI:: NC_000003.12:184379209:T:C
Gene:: THPO (Varview), CHRD (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_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_000003.12:g.184379210T>C, NC_000003.11:g.184096998T>C, NG_029559.1:g.4138T>C, NG_012136.1:g.3935A>G

Select item 14903613346.

rs1490361334 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:184380794 (GRCh38)
3:184098582 (GRCh37)
Canonical SPDI:: NC_000003.12:184380793:C:T
Gene:: THPO (Varview), CHRD (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.184380794C>T, NC_000003.11:g.184098582C>T, NG_029559.1:g.5722C>T, NM_003741.4:c.251C>T, NM_003741.3:c.251C>T, NM_003741.2:c.251C>T, NR_130747.2:n.260C>T, NR_130747.1:n.497C>T, NM_001304473.2:c.-886C>T, NM_001304473.1:c.-886C>T, NM_001304474.2:c.-831C>T, NM_001304474.1:c.-831C>T, NM_001304472.2:c.251C>T, NM_001304472.1:c.251C>T, NG_012136.1:g.2351G>A, XM_017007388.2:c.251C>T, XM_017007388.1:c.251C>T, XM_017007390.2:c.251C>T, XM_017007390.1:c.251C>T, XM_011513254.2:c.251C>T, XM_011513254.1:c.251C>T, XM_017007389.2:c.251C>T, XM_017007389.1:c.251C>T, XM_017007391.2:c.251C>T, XM_017007391.1:c.251C>T, XM_017007392.2:c.251C>T, XM_017007392.1:c.251C>T, XM_017007393.2:c.251C>T, XM_017007393.1:c.251C>T, NM_177978.1:c.251C>T, NM_177979.1:c.251C>T, XM_047449110.1:c.251C>T, XM_047449111.1:c.251C>T, NP_003732.2:p.Ala84Val, NP_001291401.1:p.Ala84Val, XP_016862877.1:p.Ala84Val, XP_016862879.1:p.Ala84Val, XP_011511556.1:p.Ala84Val, XP_016862878.1:p.Ala84Val, XP_016862880.1:p.Ala84Val, XP_016862881.1:p.Ala84Val, XP_016862882.1:p.Ala84Val, XP_047305066.1:p.Ala84Val, XP_047305067.1:p.Ala84Val

Select item 14902462917.

rs1490246291 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGT [Show Flanks]
Chromosome:: 3:184372955 (GRCh38)
3:184090744 (GRCh37)
Canonical SPDI:: NC_000003.12:184372955:AGT:AGTAGT
Gene:: THPO (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion
Validated:: by frequency,by alfa,by cluster
MAF:: AGTAGT=0./0 (ALFA)
AGT=0.000004/1 (TOPMED)
AGT=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.184372956_184372958dup, NC_000003.11:g.184090744_184090746dup, NG_012136.1:g.10187_10189dup, NM_000460.4:c.617_619dup, NM_000460.3:c.617_619dup, NM_000460.2:c.617_619dup, NM_001177597.2:c.605_607dup, NM_001177597.1:c.605_607dup, NM_001177598.2:c.600_602dup, NM_001177598.1:c.600_602dup, NM_001290003.1:c.1037_1039dup, NM_001289998.1:c.617_619dup, NM_001290022.1:c.605_607dup, NM_001290026.1:c.600_602dup, NM_001290027.1:c.501_503dup, NM_001290028.1:c.617_619dup, NM_001289997.1:c.501_503dup, NM_199228.1:c.605_607dup, XM_047448788.1:c.489_491dup, NM_199356.1:c.500_502dup, NP_000451.1:p.Phe207_Thr208insTyr, NP_001171068.1:p.Phe203_Thr204insTyr, NP_001171069.1:p.Leu201dup, NP_001276932.1:p.Phe347_Thr348insTyr, NP_001276927.1:p.Phe207_Thr208insTyr, NP_001276951.1:p.Phe203_Thr204insTyr, NP_001276955.1:p.Leu201dup, NP_001276956.1:p.Leu168dup, NP_001276957.1:p.Phe207_Thr208insTyr, NP_001276926.1:p.Leu168dup, XP_047304744.1:p.Leu164dup

Select item 14901946778.

rs1490194677 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:184371992 (GRCh38)
3:184089780 (GRCh37)
Canonical SPDI:: NC_000003.12:184371991:G:A
Gene:: THPO (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.184371992G>A, NC_000003.11:g.184089780G>A, NG_012136.1:g.11153C>T, NM_000460.4:c.*521C>T, NM_000460.3:c.*521C>T, NM_000460.2:c.*521C>T, NM_001177597.2:c.*521C>T, NM_001177597.1:c.*521C>T, NM_001177598.2:c.*606C>T, NM_001177598.1:c.*606C>T, NM_001290003.1:c.*521C>T, NM_001289998.1:c.*521C>T, NM_001290022.1:c.*521C>T, NM_001290026.1:c.*606C>T, NM_001290027.1:c.*606C>T, NM_001290028.1:c.*521C>T, NM_001289997.1:c.*606C>T, NM_199228.1:c.*521C>T, XM_047448788.1:c.*606C>T, NM_199356.1:c.*521C>T

Select item 14901828109.

rs1490182810 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:184382468 (GRCh38)
3:184100256 (GRCh37)
Canonical SPDI:: NC_000003.12:184382467:C:T
Gene:: CHRD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.184382468C>T, NC_000003.11:g.184100256C>T, NG_029559.1:g.7396C>T, NM_003741.4:c.779C>T, NM_003741.3:c.779C>T, NM_003741.2:c.779C>T, NR_130747.2:n.788C>T, NR_130747.1:n.1025C>T, NM_001304473.2:c.-303C>T, NM_001304473.1:c.-303C>T, NM_001304474.2:c.-303C>T, NM_001304474.1:c.-303C>T, NM_001304472.2:c.779C>T, NM_001304472.1:c.779C>T, NG_012136.1:g.677G>A, XM_017007388.2:c.779C>T, XM_017007388.1:c.779C>T, XM_017007390.2:c.779C>T, XM_017007390.1:c.779C>T, XM_011513254.2:c.779C>T, XM_011513254.1:c.779C>T, XM_017007389.2:c.779C>T, XM_017007389.1:c.779C>T, XM_017007391.2:c.779C>T, XM_017007391.1:c.779C>T, XM_017007392.2:c.779C>T, XM_017007392.1:c.779C>T, XM_017007393.2:c.779C>T, XM_017007393.1:c.779C>T, NM_177978.1:c.*549C>T, NM_177979.1:c.779C>T, XM_047449110.1:c.779C>T, XM_047449111.1:c.779C>T, NP_003732.2:p.Thr260Ile, NP_001291401.1:p.Thr260Ile, XP_016862877.1:p.Thr260Ile, XP_016862879.1:p.Thr260Ile, XP_011511556.1:p.Thr260Ile, XP_016862878.1:p.Thr260Ile, XP_016862880.1:p.Thr260Ile, XP_016862881.1:p.Thr260Ile, XP_016862882.1:p.Thr260Ile, XP_047305066.1:p.Thr260Ile, XP_047305067.1:p.Thr260Ile

Select item 149018046810.

rs1490180468 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:184380212 (GRCh38)
3:184098000 (GRCh37)
Canonical SPDI:: NC_000003.12:184380211:C:A,NC_000003.12:184380211:C:T
Gene:: THPO (Varview), CHRD (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.184380212C>A, NC_000003.12:g.184380212C>T, NC_000003.11:g.184098000C>A, NC_000003.11:g.184098000C>T, NG_029559.1:g.5140C>A, NG_029559.1:g.5140C>T, NM_003741.4:c.-107C>A, NM_003741.4:c.-107C>T, NM_003741.3:c.-107C>A, NM_003741.3:c.-107C>T, NM_003741.2:c.-107C>A, NM_003741.2:c.-107C>T, NM_001304472.2:c.-107C>A, NM_001304472.2:c.-107C>T, NM_001304472.1:c.-107C>A, NM_001304472.1:c.-107C>T, NG_012136.1:g.2933G>T, NG_012136.1:g.2933G>A, XM_017007388.2:c.-107C>A, XM_017007388.2:c.-107C>T, XM_017007390.2:c.-107C>A, XM_017007390.2:c.-107C>T, XM_011513254.2:c.-107C>A, XM_011513254.2:c.-107C>T, XM_017007389.2:c.-107C>A, XM_017007389.2:c.-107C>T, XM_017007391.2:c.-107C>A, XM_017007391.2:c.-107C>T, XM_017007392.2:c.-107C>A, XM_017007392.2:c.-107C>T, XM_017007393.2:c.-107C>A, XM_017007393.2:c.-107C>T, NR_130747.1:n.140C>A, NR_130747.1:n.140C>T, NM_001304473.1:c.-1243C>A, NM_001304473.1:c.-1243C>T, NM_177978.1:c.-107C>A, NM_177978.1:c.-107C>T, NM_001304474.1:c.-1188C>A, NM_001304474.1:c.-1188C>T, NM_177979.1:c.-107C>A, NM_177979.1:c.-107C>T, XM_047449110.1:c.-107C>A, XM_047449110.1:c.-107C>T, XM_047449111.1:c.-107C>A, XM_047449111.1:c.-107C>T

Select item 149015584111.

rs1490155841 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:184379674 (GRCh38)
3:184097462 (GRCh37)
Canonical SPDI:: NC_000003.12:184379673:T:C
Gene:: THPO (Varview), CHRD (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.000248/7 (TOMMO)
HGVS:: NC_000003.12:g.184379674T>C, NC_000003.11:g.184097462T>C, NG_029559.1:g.4602T>C, NG_012136.1:g.3471A>G, NM_001290003.1:c.-112A>G, NM_001289998.1:c.-532A>G, NM_001290022.1:c.-532A>G, NM_001290026.1:c.-532A>G, NM_001290027.1:c.-532A>G, NM_001290028.1:c.-229A>G

Select item 149011343412.

rs1490113434 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:184378121 (GRCh38)
3:184095909 (GRCh37)
Canonical SPDI:: NC_000003.12:184378120:C:T
Gene:: THPO (Varview), CHRD (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.184378121C>T, NC_000003.11:g.184095909C>T, NG_029559.1:g.3049C>T, NG_012136.1:g.5024G>A, NM_000460.4:c.-192G>A, NM_000460.3:c.-192G>A, NM_000460.2:c.-192G>A, NM_001177597.2:c.-192G>A, NM_001177597.1:c.-192G>A, NM_001177598.2:c.-192G>A, NM_001177598.1:c.-192G>A, NM_001290003.1:c.229G>A, NM_001289998.1:c.-192G>A, NM_001290022.1:c.-192G>A, NM_001290026.1:c.-192G>A, NM_001290027.1:c.-192G>A, NM_001289997.1:c.-192G>A, NM_199228.1:c.-192G>A, XM_047448788.1:c.-192G>A, NM_199356.1:c.-192G>A, NP_001276932.1:p.Glu77Lys

Select item 148992025813.

rs1489920258 has merged into rs1248888734 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCCGCTCCTCCCG>-,GCCGCTCCTCCCGGCCGCTCCTCCCG [Show Flanks]
Chromosome:: 3:184380108 (GRCh38)
3:184097896 (GRCh37)
Canonical SPDI:: NC_000003.12:184380096:CGCTCCTCCCGGCCGCTCCTCCCG:CGCTCCTCCCG,NC_000003.12:184380096:CGCTCCTCCCGGCCGCTCCTCCCG:CGCTCCTCCCGGCCGCTCCTCCCGGCCGCTCCTCCCG
Gene:: THPO (Varview), CHRD (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCTCCTCCCGGCCGCTCCTCCCGGCCGCTCCTCCCG=0./0 (ALFA)
CGCTCCTCCCGGC=0.000045/5 (GnomAD)
HGVS:: NC_000003.12:g.184380108_184380120del, NC_000003.12:g.184380108_184380120dup, NC_000003.11:g.184097896_184097908del, NC_000003.11:g.184097896_184097908dup, NG_029559.1:g.5036_5048del, NG_029559.1:g.5036_5048dup, NM_003741.4:c.-211_-199del, NM_003741.4:c.-211_-199dup, NM_003741.3:c.-211_-199del, NM_003741.3:c.-211_-199dup, NM_003741.2:c.-211_-199del, NM_003741.2:c.-211_-199dup, NM_001304472.2:c.-211_-199del, NM_001304472.2:c.-211_-199dup, NM_001304472.1:c.-211_-199del, NM_001304472.1:c.-211_-199dup, NG_012136.1:g.3036_3048del, NG_012136.1:g.3036_3048dup, XM_017007388.2:c.-211_-199del, XM_017007388.2:c.-211_-199dup, XM_017007390.2:c.-211_-199del, XM_017007390.2:c.-211_-199dup, XM_011513254.2:c.-211_-199del, XM_011513254.2:c.-211_-199dup, XM_017007389.2:c.-211_-199del, XM_017007389.2:c.-211_-199dup, XM_017007391.2:c.-211_-199del, XM_017007391.2:c.-211_-199dup, XM_017007392.2:c.-211_-199del, XM_017007392.2:c.-211_-199dup, XM_017007393.2:c.-211_-199del, XM_017007393.2:c.-211_-199dup, NR_130747.1:n.36_48del, NR_130747.1:n.36_48dup, NM_001304473.1:c.-1347_-1335del, NM_001304473.1:c.-1347_-1335dup, NM_177978.1:c.-211_-199del, NM_177978.1:c.-211_-199dup, NM_001304474.1:c.-1292_-1280del, NM_001304474.1:c.-1292_-1280dup, NM_177979.1:c.-211_-199del, NM_177979.1:c.-211_-199dup, XM_047449110.1:c.-211_-199del, XM_047449110.1:c.-211_-199dup, XM_047449111.1:c.-211_-199del, XM_047449111.1:c.-211_-199dup

Select item 148986358414.

rs1489863584 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:184382270 (GRCh38)
3:184100058 (GRCh37)
Canonical SPDI:: NC_000003.12:184382269:C:A,NC_000003.12:184382269:C:T
Gene:: CHRD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000003.12:g.184382270C>A, NC_000003.12:g.184382270C>T, NC_000003.11:g.184100058C>A, NC_000003.11:g.184100058C>T, NG_029559.1:g.7198C>A, NG_029559.1:g.7198C>T, NG_012136.1:g.875G>T, NG_012136.1:g.875G>A

Select item 148917093915.

rs1489170939 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:184373459 (GRCh38)
3:184091247 (GRCh37)
Canonical SPDI:: NC_000003.12:184373458:C:T
Gene:: THPO (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.184373459C>T, NC_000003.11:g.184091247C>T, NG_012136.1:g.9686G>A, NM_000460.4:c.352G>A, NM_000460.3:c.352G>A, NM_000460.2:c.352G>A, NM_001177597.2:c.352G>A, NM_001177597.1:c.352G>A, NM_001177598.2:c.352G>A, NM_001177598.1:c.352G>A, NM_001290003.1:c.772G>A, NM_001289998.1:c.352G>A, NM_001290022.1:c.352G>A, NM_001290026.1:c.352G>A, NM_001290027.1:c.352G>A, NM_001290028.1:c.352G>A, NM_001289997.1:c.352G>A, NM_199228.1:c.352G>A, XM_047448788.1:c.352G>A, NM_199356.1:c.352G>A, NP_000451.1:p.Val118Ile, NP_001171068.1:p.Val118Ile, NP_001171069.1:p.Val118Ile, NP_001276932.1:p.Val258Ile, NP_001276927.1:p.Val118Ile, NP_001276951.1:p.Val118Ile, NP_001276955.1:p.Val118Ile, NP_001276956.1:p.Val118Ile, NP_001276957.1:p.Val118Ile, NP_001276926.1:p.Val118Ile, XP_047304744.1:p.Val118Ile

Select item 148901856316.

rs1489018563 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:184374447 (GRCh38)
3:184092235 (GRCh37)
Canonical SPDI:: NC_000003.12:184374446:C:T
Gene:: THPO (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.184374447C>T, NC_000003.11:g.184092235C>T, NG_012136.1:g.8698G>A

Select item 148861180217.

rs1488611802 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:184383111 (GRCh38)
3:184100899 (GRCh37)
Canonical SPDI:: NC_000003.12:184383110:C:A
Gene:: CHRD (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.184383111C>A, NC_000003.11:g.184100899C>A, NG_029559.1:g.8039C>A, NM_003741.4:c.1161C>A, NM_003741.3:c.1161C>A, NM_003741.2:c.1161C>A, NR_130747.2:n.1328C>A, NR_130747.1:n.1565C>A, NM_001304473.2:c.51C>A, NM_001304473.1:c.51C>A, NM_001304474.2:c.51C>A, NM_001304474.1:c.51C>A, NM_001304472.2:c.1161C>A, NM_001304472.1:c.1161C>A, NG_012136.1:g.34G>T, XM_017007388.2:c.1242C>A, XM_017007388.1:c.1242C>A, XM_017007390.2:c.1242C>A, XM_017007390.1:c.1242C>A, XM_011513254.2:c.1161C>A, XM_011513254.1:c.1161C>A, XM_017007389.2:c.1242C>A, XM_017007389.1:c.1242C>A, XM_017007391.2:c.1242C>A, XM_017007391.1:c.1242C>A, XM_017007392.2:c.1161C>A, XM_017007392.1:c.1161C>A, XM_017007393.2:c.1242C>A, XM_017007393.1:c.1242C>A, NM_177978.1:c.*902C>A, NM_177979.1:c.*79C>A, XM_047449110.1:c.1242C>A, XM_047449111.1:c.1242C>A

Select item 148856181418.

rs1488561814 has merged into rs1212981099 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAAG>-,CAAGCAAG [Show Flanks]
Chromosome:: 3:184376883 (GRCh38)
3:184094671 (GRCh37)
Canonical SPDI:: NC_000003.12:184376879:AAGCAAG:AAG,NC_000003.12:184376879:AAGCAAG:AAGCAAGCAAG
Gene:: THPO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGCAAGCAAG=0./0 (ALFA)
HGVS:: NC_000003.12:g.184376883_184376886del, NC_000003.12:g.184376883_184376886dup, NC_000003.11:g.184094671_184094674del, NC_000003.11:g.184094671_184094674dup, NG_029559.1:g.1811_1814del, NG_029559.1:g.1811_1814dup, NG_012136.1:g.6262_6265del, NG_012136.1:g.6262_6265dup

Select item 148818600119.

rs1488186001 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:184382668 (GRCh38)
3:184100456 (GRCh37)
Canonical SPDI:: NC_000003.12:184382667:C:G
Gene:: CHRD (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.184382668C>G, NC_000003.11:g.184100456C>G, NG_029559.1:g.7596C>G, NM_003741.4:c.876C>G, NM_003741.3:c.876C>G, NM_003741.2:c.876C>G, NR_130747.2:n.885C>G, NR_130747.1:n.1122C>G, NM_001304473.2:c.-206C>G, NM_001304473.1:c.-206C>G, NM_001304474.2:c.-206C>G, NM_001304474.1:c.-206C>G, NM_001304472.2:c.876C>G, NM_001304472.1:c.876C>G, NG_012136.1:g.477G>C, XM_017007388.2:c.876C>G, XM_017007388.1:c.876C>G, XM_017007390.2:c.876C>G, XM_017007390.1:c.876C>G, XM_011513254.2:c.876C>G, XM_011513254.1:c.876C>G, XM_017007389.2:c.876C>G, XM_017007389.1:c.876C>G, XM_017007391.2:c.876C>G, XM_017007391.1:c.876C>G, XM_017007392.2:c.876C>G, XM_017007392.1:c.876C>G, XM_017007393.2:c.876C>G, XM_017007393.1:c.876C>G, NM_177978.1:c.*646C>G, NM_177979.1:c.876C>G, XM_047449110.1:c.876C>G, XM_047449111.1:c.876C>G

Select item 148788456620.

rs1487884566 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:184383119 (GRCh38)
3:184100907 (GRCh37)
Canonical SPDI:: NC_000003.12:184383118:G:A
Gene:: CHRD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000003.12:g.184383119G>A, NC_000003.11:g.184100907G>A, NG_029559.1:g.8047G>A, NM_003741.4:c.1169G>A, NM_003741.3:c.1169G>A, NM_003741.2:c.1169G>A, NR_130747.2:n.1336G>A, NR_130747.1:n.1573G>A, NM_001304473.2:c.59G>A, NM_001304473.1:c.59G>A, NM_001304474.2:c.59G>A, NM_001304474.1:c.59G>A, NM_001304472.2:c.1169G>A, NM_001304472.1:c.1169G>A, NG_012136.1:g.26C>T, XM_017007388.2:c.1250G>A, XM_017007388.1:c.1250G>A, XM_017007390.2:c.1250G>A, XM_017007390.1:c.1250G>A, XM_011513254.2:c.1169G>A, XM_011513254.1:c.1169G>A, XM_017007389.2:c.1250G>A, XM_017007389.1:c.1250G>A, XM_017007391.2:c.1250G>A, XM_017007391.1:c.1250G>A, XM_017007392.2:c.1169G>A, XM_017007392.1:c.1169G>A, XM_017007393.2:c.1250G>A, XM_017007393.1:c.1250G>A, NM_177978.1:c.*910G>A, NM_177979.1:c.*87G>A, XM_047449110.1:c.1250G>A, XM_047449111.1:c.1250G>A, NP_003732.2:p.Gly390Glu, NP_001291402.1:p.Gly20Glu, NP_001291403.1:p.Gly20Glu, NP_001291401.1:p.Gly390Glu, XP_016862877.1:p.Gly417Glu, XP_016862879.1:p.Gly417Glu, XP_011511556.1:p.Gly390Glu, XP_016862878.1:p.Gly417Glu, XP_016862880.1:p.Gly417Glu, XP_016862881.1:p.Gly390Glu, XP_016862882.1:p.Gly417Glu, XP_047305066.1:p.Gly417Glu, XP_047305067.1:p.Gly417Glu

<< First< Prev

Page of 176

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Nucleotide

Items: 1 to 20 of 3510

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity