SNP Links for Nucleotide (Select 382544572) - SNP

Links from Nucleotide

Items: 1 to 20 of 19232

<< First< Prev

Page of 962

Next >Last >>

Select item 14914831931.

rs1491483193 has merged into rs57509953 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:37025621 (GRCh38)
3:37067112 (GRCh37)
Canonical SPDI:: NC_000003.12:37025608:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:37025608:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:37025608:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:37025608:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:37025608:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:37025608:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:37025608:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:37025608:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:37025608:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:37025608:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37025608:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37025608:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37025608:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37025608:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37025608:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37025608:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:37025608:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MLH1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000003.12:g.37025621_37025629del, NC_000003.12:g.37025622_37025629del, NC_000003.12:g.37025623_37025629del, NC_000003.12:g.37025624_37025629del, NC_000003.12:g.37025625_37025629del, NC_000003.12:g.37025626_37025629del, NC_000003.12:g.37025627_37025629del, NC_000003.12:g.37025628_37025629del, NC_000003.12:g.37025629del, NC_000003.12:g.37025629dup, NC_000003.12:g.37025628_37025629dup, NC_000003.12:g.37025627_37025629dup, NC_000003.12:g.37025626_37025629dup, NC_000003.12:g.37025625_37025629dup, NC_000003.12:g.37025624_37025629dup, NC_000003.12:g.37025623_37025629dup, NC_000003.12:g.37025622_37025629dup, NC_000003.11:g.37067112_37067120del, NC_000003.11:g.37067113_37067120del, NC_000003.11:g.37067114_37067120del, NC_000003.11:g.37067115_37067120del, NC_000003.11:g.37067116_37067120del, NC_000003.11:g.37067117_37067120del, NC_000003.11:g.37067118_37067120del, NC_000003.11:g.37067119_37067120del, NC_000003.11:g.37067120del, NC_000003.11:g.37067120dup, NC_000003.11:g.37067119_37067120dup, NC_000003.11:g.37067118_37067120dup, NC_000003.11:g.37067117_37067120dup, NC_000003.11:g.37067116_37067120dup, NC_000003.11:g.37067115_37067120dup, NC_000003.11:g.37067114_37067120dup, NC_000003.11:g.37067113_37067120dup, NG_007109.2:g.37272_37280del, NG_007109.2:g.37273_37280del, NG_007109.2:g.37274_37280del, NG_007109.2:g.37275_37280del, NG_007109.2:g.37276_37280del, NG_007109.2:g.37277_37280del, NG_007109.2:g.37278_37280del, NG_007109.2:g.37279_37280del, NG_007109.2:g.37280del, NG_007109.2:g.37280dup, NG_007109.2:g.37279_37280dup, NG_007109.2:g.37278_37280dup, NG_007109.2:g.37277_37280dup, NG_007109.2:g.37276_37280dup, NG_007109.2:g.37275_37280dup, NG_007109.2:g.37274_37280dup, NG_007109.2:g.37273_37280dup

Select item 14914475292.

rs1491447529 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATATATA,ATATATATATATATATATATATA,ATATGTA [Show Flanks]
Chromosome:: 3:37025609 (GRCh38)
3:37067101 (GRCh37)
Canonical SPDI:: NC_000003.12:37025609::A,NC_000003.12:37025609::ATA,NC_000003.12:37025609::ATATA,NC_000003.12:37025609::ATATATA,NC_000003.12:37025609::ATATATATA,NC_000003.12:37025609::ATATATATATA,NC_000003.12:37025609::ATATATATATATA,NC_000003.12:37025609::ATATATATATATATATATA,NC_000003.12:37025609::ATATATATATATATATATATATA,NC_000003.12:37025609::ATATGTA
Gene:: MLH1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
ATATGTA=0.000004/1 (TOPMED)
A=0.016037/28 (Korea1K)
HGVS:: NC_000003.12:g.37025609_37025610insA, NC_000003.12:g.37025609_37025610insATA, NC_000003.12:g.37025609_37025610insATATA, NC_000003.12:g.37025609_37025610insATATATA, NC_000003.12:g.37025609_37025610insATATATATA, NC_000003.12:g.37025609_37025610insATATATATATA, NC_000003.12:g.37025609_37025610insATATATATATATA, NC_000003.12:g.37025609_37025610insATATATATATATATATATA, NC_000003.12:g.37025609_37025610insATATATATATATATATATATATA, NC_000003.12:g.37025609_37025610insATATGTA, NC_000003.11:g.37067100_37067101insA, NC_000003.11:g.37067100_37067101insATA, NC_000003.11:g.37067100_37067101insATATA, NC_000003.11:g.37067100_37067101insATATATA, NC_000003.11:g.37067100_37067101insATATATATA, NC_000003.11:g.37067100_37067101insATATATATATA, NC_000003.11:g.37067100_37067101insATATATATATATA, NC_000003.11:g.37067100_37067101insATATATATATATATATATA, NC_000003.11:g.37067100_37067101insATATATATATATATATATATATA, NC_000003.11:g.37067100_37067101insATATGTA, NG_007109.2:g.37260_37261insA, NG_007109.2:g.37260_37261insATA, NG_007109.2:g.37260_37261insATATA, NG_007109.2:g.37260_37261insATATATA, NG_007109.2:g.37260_37261insATATATATA, NG_007109.2:g.37260_37261insATATATATATA, NG_007109.2:g.37260_37261insATATATATATATA, NG_007109.2:g.37260_37261insATATATATATATATATATA, NG_007109.2:g.37260_37261insATATATATATATATATATATATA, NG_007109.2:g.37260_37261insATATGTA

Select item 14914383033.

rs1491438303 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 3:37060288 (GRCh38)
3:37101780 (GRCh37)
Canonical SPDI:: NC_000003.12:37060288:G:GG
Gene:: LRRFIP2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000115/16 (GnomAD)
HGVS:: NC_000003.12:g.37060289dup, NC_000003.11:g.37101780dup, NG_007109.2:g.71940dup, NG_053016.1:g.121529dup

Select item 14913728384.

rs1491372838 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT [Show Flanks]
Chromosome:: 3:37009652 (GRCh38)
3:37051143 (GRCh37)
Canonical SPDI:: NC_000003.12:37009650:TGT:T,NC_000003.12:37009650:TGT:TGTGT
Gene:: MLH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTGT=0./0 (ALFA)
-=0.00005/2 (GnomAD)
HGVS:: NC_000003.12:g.37009652_37009653del, NC_000003.12:g.37009652_37009653dup, NC_000003.11:g.37051143_37051144del, NC_000003.11:g.37051143_37051144dup, NG_007109.2:g.21303_21304del, NG_007109.2:g.21303_21304dup

Select item 14913445185.

rs1491344518 has merged into rs914593022 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AAA,AAAAA,AAAAAAA [Show Flanks]
Chromosome:: 3:37027400 (GRCh38)
3:37068891 (GRCh37)
Canonical SPDI:: NC_000003.12:37027392:AAAAAAAAAAA:AAAAAAA,NC_000003.12:37027392:AAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:37027392:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:37027392:AAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: MLH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000003.12:g.37027400_37027403del, NC_000003.12:g.37027403del, NC_000003.12:g.37027403dup, NC_000003.12:g.37027401_37027403dup, NC_000003.11:g.37068891_37068894del, NC_000003.11:g.37068894del, NC_000003.11:g.37068894dup, NC_000003.11:g.37068892_37068894dup, NG_007109.2:g.39051_39054del, NG_007109.2:g.39054del, NG_007109.2:g.39054dup, NG_007109.2:g.39052_39054dup

Select item 14912091576.

rs1491209157 has merged into rs959067818 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,AAA,AAAAAA [Show Flanks]
Chromosome:: 3:37027387 (GRCh38)
3:37068878 (GRCh37)
Canonical SPDI:: NC_000003.12:37027384:AAAAAAA:AA,NC_000003.12:37027384:AAAAAAA:AAAAA,NC_000003.12:37027384:AAAAAAA:AAAAAAAA
Gene:: MLH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000003.12:g.37027387_37027391del, NC_000003.12:g.37027390_37027391del, NC_000003.12:g.37027391dup, NC_000003.11:g.37068878_37068882del, NC_000003.11:g.37068881_37068882del, NC_000003.11:g.37068882dup, NG_007109.2:g.39038_39042del, NG_007109.2:g.39041_39042del, NG_007109.2:g.39042dup

Select item 14911474317.

rs1491147431 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:37027384 (GRCh38)
3:37068875 (GRCh37)
Canonical SPDI:: NC_000003.12:37027383:CA:
Gene:: MLH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000003.12:g.37027384_37027385del, NC_000003.11:g.37068875_37068876del, NG_007109.2:g.39035_39036del

Select item 14911160058.

rs1491116005 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 3:37060289 (GRCh38)
3:37101780 (GRCh37)
Canonical SPDI:: NC_000003.12:37060287:TGT:T
Gene:: LRRFIP2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.37060289_37060290del, NC_000003.11:g.37101780_37101781del, NG_007109.2:g.71940_71941del, NG_053016.1:g.121529_121530del

Select item 14910734539.

rs1491073453 has merged into rs145420889 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATACGTATATGTATATATATATAT,ATATAT,ATATATAT [Show Flanks]
Chromosome:: 3:37009648 (GRCh38)
3:37051139 (GRCh37)
Canonical SPDI:: NC_000003.12:37009640:TATATATATAT:TATATAT,NC_000003.12:37009640:TATATATATAT:TATATATAT,NC_000003.12:37009640:TATATATATAT:TATATATATATACGTATATGTATATATATATAT,NC_000003.12:37009640:TATATATATAT:TATATATATATAT,NC_000003.12:37009640:TATATATATAT:TATATATATATATAT
Gene:: MLH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATAT=0./0 (ALFA)
TA=0.0011/2 (Korea1K)
TA=0.0048/1 (Vietnamese)
TA=0.0335/16 (NorthernSweden)
TA=0.4/16 (GENOME_DK)
HGVS:: NC_000003.12:g.37009642AT[3], NC_000003.12:g.37009642AT[4], NC_000003.12:g.37009641_37009651TA[6]CGTATATGTATATATATATAT[1], NC_000003.12:g.37009642AT[6], NC_000003.12:g.37009642AT[7], NC_000003.11:g.37051133AT[3], NC_000003.11:g.37051133AT[4], NC_000003.11:g.37051132_37051142TA[6]CGTATATGTATATATATATAT[1], NC_000003.11:g.37051133AT[6], NC_000003.11:g.37051133AT[7], NG_007109.2:g.21293AT[3], NG_007109.2:g.21293AT[4], NG_007109.2:g.21292_21302TA[6]CGTATATGTATATATATATAT[1], NG_007109.2:g.21293AT[6], NG_007109.2:g.21293AT[7]

Select item 149102155110.

rs1491021551 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 3:37001951 (GRCh38)
3:37043443 (GRCh37)
Canonical SPDI:: NC_000003.12:37001951:G:GG
Gene:: MLH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000003.12:g.37001952dup, NC_000003.11:g.37043443dup, NG_007109.2:g.13603dup

Select item 149101984911.

rs1491019849 has merged into rs10653051 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:37030562 (GRCh38)
3:37072053 (GRCh37)
Canonical SPDI:: NC_000003.12:37030552:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:37030552:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:37030552:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:37030552:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:37030552:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:37030552:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:37030552:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:37030552:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:37030552:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:37030552:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: MLH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000003.12:g.37030562_37030568del, NC_000003.12:g.37030565_37030568del, NC_000003.12:g.37030566_37030568del, NC_000003.12:g.37030567_37030568del, NC_000003.12:g.37030568del, NC_000003.12:g.37030568dup, NC_000003.12:g.37030567_37030568dup, NC_000003.12:g.37030566_37030568dup, NC_000003.12:g.37030565_37030568dup, NC_000003.12:g.37030563_37030568dup, NC_000003.11:g.37072053_37072059del, NC_000003.11:g.37072056_37072059del, NC_000003.11:g.37072057_37072059del, NC_000003.11:g.37072058_37072059del, NC_000003.11:g.37072059del, NC_000003.11:g.37072059dup, NC_000003.11:g.37072058_37072059dup, NC_000003.11:g.37072057_37072059dup, NC_000003.11:g.37072056_37072059dup, NC_000003.11:g.37072054_37072059dup, NG_007109.2:g.42213_42219del, NG_007109.2:g.42216_42219del, NG_007109.2:g.42217_42219del, NG_007109.2:g.42218_42219del, NG_007109.2:g.42219del, NG_007109.2:g.42219dup, NG_007109.2:g.42218_42219dup, NG_007109.2:g.42217_42219dup, NG_007109.2:g.42216_42219dup, NG_007109.2:g.42214_42219dup

Select item 149097419112.

rs1490974191 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:37035841 (GRCh38)
3:37077332 (GRCh37)
Canonical SPDI:: NC_000003.12:37035840:T:C
Gene:: MLH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.37035841T>C, NC_000003.11:g.37077332T>C, NG_007109.2:g.47492T>C

Select item 149096154213.

rs1490961542 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTGA [Show Flanks]
Chromosome:: 3:37052518 (GRCh38)
3:37094010 (GRCh37)
Canonical SPDI:: NC_000003.12:37052518:TGACTGA:TGACTGACTGA
Gene:: LRRFIP2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: TGACTGACTGA=0./0 (ALFA)
HGVS:: NC_000003.12:g.37052522_37052525dup, NC_000003.11:g.37094013_37094016dup, NG_007109.2:g.64173_64176dup, NG_053016.1:g.129296_129299dup

Select item 149086720514.

rs1490867205 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:36999764 (GRCh38)
3:37041255 (GRCh37)
Canonical SPDI:: NC_000003.12:36999763:C:T
Gene:: MLH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00974/159 (ALFA)
HGVS:: NC_000003.12:g.36999764C>T, NC_000003.11:g.37041255C>T, NG_007109.2:g.11415C>T

Select item 149081099915.

rs1490810999 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 3:37045612 (GRCh38)
3:37087103 (GRCh37)
Canonical SPDI:: NC_000003.12:37045611:TTTTT:TTTT
Gene:: MLH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.37045616del, NC_000003.11:g.37087107del, NG_007109.2:g.57267del

Select item 149080953016.

rs1490809530 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 3:37020246 (GRCh38)
3:37061737 (GRCh37)
Canonical SPDI:: NC_000003.12:37020245:T:A,NC_000003.12:37020245:T:G
Gene:: MLH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.37020246T>A, NC_000003.12:g.37020246T>G, NC_000003.11:g.37061737T>A, NC_000003.11:g.37061737T>G, NG_007109.2:g.31897T>A, NG_007109.2:g.31897T>G

Select item 149076037217.

rs1490760372 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 3:36991537 (GRCh38)
3:37033028 (GRCh37)
Canonical SPDI:: NC_000003.12:36991536:G:C,NC_000003.12:36991536:G:T
Gene:: MLH1 (Varview), EPM2AIP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.36991537G>C, NC_000003.12:g.36991537G>T, NC_000003.11:g.37033028G>C, NC_000003.11:g.37033028G>T, NG_007109.2:g.3188G>C, NG_007109.2:g.3188G>T, NG_008418.1:g.6768C>G, NG_008418.1:g.6768C>A, NM_014805.4:c.1541C>G, NM_014805.4:c.1541C>A, NM_014805.3:c.1541C>G, NM_014805.3:c.1541C>A, NP_055620.1:p.Thr514Ser, NP_055620.1:p.Thr514Asn

Select item 149075455718.

rs1490754557 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 3:37011990 (GRCh38)
3:37053481 (GRCh37)
Canonical SPDI:: NC_000003.12:37011989:C:A,NC_000003.12:37011989:C:G,NC_000003.12:37011989:C:T
Gene:: MLH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.37011990C>A, NC_000003.12:g.37011990C>G, NC_000003.12:g.37011990C>T, NC_000003.11:g.37053481C>A, NC_000003.11:g.37053481C>G, NC_000003.11:g.37053481C>T, NG_007109.2:g.23641C>A, NG_007109.2:g.23641C>G, NG_007109.2:g.23641C>T

Select item 149074812919.

rs1490748129 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:37006355 (GRCh38)
3:37047846 (GRCh37)
Canonical SPDI:: NC_000003.12:37006354:A:G
Gene:: MLH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.37006355A>G, NC_000003.11:g.37047846A>G, NG_007109.2:g.18006A>G

Select item 149070987320.

rs1490709873 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:37021076 (GRCh38)
3:37062567 (GRCh37)
Canonical SPDI:: NC_000003.12:37021075:G:T
Gene:: MLH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.37021076G>T, NC_000003.11:g.37062567G>T, NG_007109.2:g.32727G>T

<< First< Prev

Page of 962

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 19232

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity