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Select item 14914784831.

rs1491478483 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:161220365 (GRCh38)
1:161190156 (GRCh37)
Canonical SPDI:: NC_000001.11:161220365::C
HGVS:: NC_000001.11:g.161220365_161220366insC, NC_000001.10:g.161190155_161190156insC, NG_029043.1:g.10069_10070insC, NG_012043.1:g.8263_8264insG

Select item 14914588082.

rs1491458808 has merged into rs17244502 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACACACACACACACAC>-,AC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 1:161223071 (GRCh38)
1:161192861 (GRCh37)
Canonical SPDI:: NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACAC,NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACAC,NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACAC,NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACAC,NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACAC,NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACAC,NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACAC,NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC,NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC,NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC,NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC,NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:161223055:CACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACAC
Gene:: APOA2 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: uncertain-significance,benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACAC=0./0 (ALFA)
AC=0.09321/1167 (GoESP)
-=0.22029/849 (ALSPAC)
HGVS:: NC_000001.11:g.161223057AC[7], NC_000001.11:g.161223057AC[8], NC_000001.11:g.161223057AC[10], NC_000001.11:g.161223057AC[11], NC_000001.11:g.161223057AC[12], NC_000001.11:g.161223057AC[13], NC_000001.11:g.161223057AC[14], NC_000001.11:g.161223057AC[15], NC_000001.11:g.161223057AC[16], NC_000001.11:g.161223057AC[17], NC_000001.11:g.161223057AC[18], NC_000001.11:g.161223057AC[20], NC_000001.11:g.161223057AC[21], NC_000001.11:g.161223057AC[22], NC_000001.11:g.161223057AC[23], NC_000001.11:g.161223057AC[24], NC_000001.11:g.161223057AC[25], NC_000001.11:g.161223057AC[27], NC_000001.10:g.161192847AC[7], NC_000001.10:g.161192847AC[8], NC_000001.10:g.161192847AC[10], NC_000001.10:g.161192847AC[11], NC_000001.10:g.161192847AC[12], NC_000001.10:g.161192847AC[13], NC_000001.10:g.161192847AC[14], NC_000001.10:g.161192847AC[15], NC_000001.10:g.161192847AC[16], NC_000001.10:g.161192847AC[17], NC_000001.10:g.161192847AC[18], NC_000001.10:g.161192847AC[20], NC_000001.10:g.161192847AC[21], NC_000001.10:g.161192847AC[22], NC_000001.10:g.161192847AC[23], NC_000001.10:g.161192847AC[24], NC_000001.10:g.161192847AC[25], NC_000001.10:g.161192847AC[27], NG_012043.1:g.5536TG[7], NG_012043.1:g.5536TG[8], NG_012043.1:g.5536TG[10], NG_012043.1:g.5536TG[11], NG_012043.1:g.5536TG[12], NG_012043.1:g.5536TG[13], NG_012043.1:g.5536TG[14], NG_012043.1:g.5536TG[15], NG_012043.1:g.5536TG[16], NG_012043.1:g.5536TG[17], NG_012043.1:g.5536TG[18], NG_012043.1:g.5536TG[20], NG_012043.1:g.5536TG[21], NG_012043.1:g.5536TG[22], NG_012043.1:g.5536TG[23], NG_012043.1:g.5536TG[24], NG_012043.1:g.5536TG[25], NG_012043.1:g.5536TG[27]

Select item 14913962613.

rs1491396261 has merged into rs781711813 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:161220377 (GRCh38)
1:161190167 (GRCh37)
Canonical SPDI:: NC_000001.11:161220364:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:161220364:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:161220364:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:161220364:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:161220364:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:161220364:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:161220364:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:161220364:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161220364:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161220364:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161220364:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161220364:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161220364:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161220364:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161220364:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161220364:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161220364:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161220364:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161220364:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.45/18 (GENOME_DK)
HGVS:: NC_000001.11:g.161220377_161220386del, NC_000001.11:g.161220380_161220386del, NC_000001.11:g.161220381_161220386del, NC_000001.11:g.161220382_161220386del, NC_000001.11:g.161220383_161220386del, NC_000001.11:g.161220384_161220386del, NC_000001.11:g.161220385_161220386del, NC_000001.11:g.161220386del, NC_000001.11:g.161220386dup, NC_000001.11:g.161220385_161220386dup, NC_000001.11:g.161220384_161220386dup, NC_000001.11:g.161220383_161220386dup, NC_000001.11:g.161220382_161220386dup, NC_000001.11:g.161220380_161220386dup, NC_000001.11:g.161220377_161220386dup, NC_000001.11:g.161220376_161220386dup, NC_000001.11:g.161220386_161220387insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.161220386_161220387insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.161220386_161220387insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.161190167_161190176del, NC_000001.10:g.161190170_161190176del, NC_000001.10:g.161190171_161190176del, NC_000001.10:g.161190172_161190176del, NC_000001.10:g.161190173_161190176del, NC_000001.10:g.161190174_161190176del, NC_000001.10:g.161190175_161190176del, NC_000001.10:g.161190176del, NC_000001.10:g.161190176dup, NC_000001.10:g.161190175_161190176dup, NC_000001.10:g.161190174_161190176dup, NC_000001.10:g.161190173_161190176dup, NC_000001.10:g.161190172_161190176dup, NC_000001.10:g.161190170_161190176dup, NC_000001.10:g.161190167_161190176dup, NC_000001.10:g.161190166_161190176dup, NC_000001.10:g.161190176_161190177insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.161190176_161190177insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.161190176_161190177insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029043.1:g.10081_10090del, NG_029043.1:g.10084_10090del, NG_029043.1:g.10085_10090del, NG_029043.1:g.10086_10090del, NG_029043.1:g.10087_10090del, NG_029043.1:g.10088_10090del, NG_029043.1:g.10089_10090del, NG_029043.1:g.10090del, NG_029043.1:g.10090dup, NG_029043.1:g.10089_10090dup, NG_029043.1:g.10088_10090dup, NG_029043.1:g.10087_10090dup, NG_029043.1:g.10086_10090dup, NG_029043.1:g.10084_10090dup, NG_029043.1:g.10081_10090dup, NG_029043.1:g.10080_10090dup, NG_029043.1:g.10090_10091insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029043.1:g.10090_10091insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029043.1:g.10090_10091insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012043.1:g.8255_8264del, NG_012043.1:g.8258_8264del, NG_012043.1:g.8259_8264del, NG_012043.1:g.8260_8264del, NG_012043.1:g.8261_8264del, NG_012043.1:g.8262_8264del, NG_012043.1:g.8263_8264del, NG_012043.1:g.8264del, NG_012043.1:g.8264dup, NG_012043.1:g.8263_8264dup, NG_012043.1:g.8262_8264dup, NG_012043.1:g.8261_8264dup, NG_012043.1:g.8260_8264dup, NG_012043.1:g.8258_8264dup, NG_012043.1:g.8255_8264dup, NG_012043.1:g.8254_8264dup, NG_012043.1:g.8264_8265insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012043.1:g.8264_8265insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012043.1:g.8264_8265insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14908996484.

rs1490899648 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:161223415 (GRCh38)
1:161193205 (GRCh37)
Canonical SPDI:: NC_000001.11:161223414:G:C
Gene:: APOA2 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.161223415G>C, NC_000001.10:g.161193205G>C, NG_012043.1:g.5214C>G, NM_001643.2:c.-14C>G, NM_001643.1:c.-14C>G

Select item 14904461235.

rs1490446123 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:161223041 (GRCh38)
1:161192832 (GRCh37)
Canonical SPDI:: NC_000001.11:161223041:CC:CCC
Gene:: APOA2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161223043dup, NC_000001.10:g.161192833dup, NG_012043.1:g.5587dup, NM_001643.2:c.61dup, NM_001643.1:c.61dup, NP_001634.1:p.Val21fs

Select item 14904026716.

rs1490402671 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:161223961 (GRCh38)
1:161193751 (GRCh37)
Canonical SPDI:: NC_000001.11:161223960:A:G
Gene:: APOA2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.161223961A>G, NC_000001.10:g.161193751A>G, NG_012043.1:g.4668T>C

Select item 14903129457.

rs1490312945 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:161221235 (GRCh38)
1:161191025 (GRCh37)
Canonical SPDI:: NC_000001.11:161221234:T:A,NC_000001.11:161221234:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.161221235T>A, NC_000001.11:g.161221235T>C, NC_000001.10:g.161191025T>A, NC_000001.10:g.161191025T>C, NG_029043.1:g.10939T>A, NG_029043.1:g.10939T>C, NG_012043.1:g.7394A>T, NG_012043.1:g.7394A>G

Select item 14901420988.

rs1490142098 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:161220344 (GRCh38)
1:161190134 (GRCh37)
Canonical SPDI:: NC_000001.11:161220343:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.161220344G>A, NC_000001.10:g.161190134G>A, NG_029043.1:g.10048G>A, NG_012043.1:g.8285C>T

Select item 14900466149.

rs1490046614 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:161222378 (GRCh38)
1:161192168 (GRCh37)
Canonical SPDI:: NC_000001.11:161222377:G:A
Gene:: APOA2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161222378G>A, NC_000001.10:g.161192168G>A, NG_012043.1:g.6251C>T, NM_001643.2:c.*27C>T, NM_001643.1:c.*27C>T

Select item 148988210710.

rs1489882107 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:161223033 (GRCh38)
1:161192823 (GRCh37)
Canonical SPDI:: NC_000001.11:161223032:G:A,NC_000001.11:161223032:G:T
Gene:: APOA2 (Varview)
Functional Consequence:: missense_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.161223033G>A, NC_000001.11:g.161223033G>T, NC_000001.10:g.161192823G>A, NC_000001.10:g.161192823G>T, NG_012043.1:g.5596C>T, NG_012043.1:g.5596C>A, NM_001643.2:c.70C>T, NM_001643.2:c.70C>A, NM_001643.1:c.70C>T, NM_001643.1:c.70C>A, NP_001634.1:p.Gln24Ter, NP_001634.1:p.Gln24Lys

Select item 148919906711.

rs1489199067 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:161220862 (GRCh38)
1:161190652 (GRCh37)
Canonical SPDI:: NC_000001.11:161220861:A:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.161220862A>T, NC_000001.10:g.161190652A>T, NG_029043.1:g.10566A>T, NG_012043.1:g.7767T>A

Select item 148916884212.

rs1489168842 has merged into rs34427160 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:161221669 (GRCh38)
1:161191459 (GRCh37)
Canonical SPDI:: NC_000001.11:161221660:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000001.11:161221660:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:161221660:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:161221660:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:161221660:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:161221660:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:161221660:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:161221660:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:161221660:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:161221660:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:161221660:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:161221660:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161221660:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161221660:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161221660:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161221660:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161221660:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161221660:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161221660:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161221660:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161221660:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161221660:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161221660:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161221660:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161221660:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161221660:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161221660:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161221660:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161221660:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161221660:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161221660:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161221660:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161221660:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161221660:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161221660:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161221660:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161221660:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161221660:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.161221669_161221688del, NC_000001.11:g.161221671_161221688del, NC_000001.11:g.161221672_161221688del, NC_000001.11:g.161221674_161221688del, NC_000001.11:g.161221675_161221688del, NC_000001.11:g.161221676_161221688del, NC_000001.11:g.161221677_161221688del, NC_000001.11:g.161221678_161221688del, NC_000001.11:g.161221679_161221688del, NC_000001.11:g.161221680_161221688del, NC_000001.11:g.161221681_161221688del, NC_000001.11:g.161221682_161221688del, NC_000001.11:g.161221683_161221688del, NC_000001.11:g.161221684_161221688del, NC_000001.11:g.161221685_161221688del, NC_000001.11:g.161221686_161221688del, NC_000001.11:g.161221687_161221688del, NC_000001.11:g.161221688del, NC_000001.11:g.161221688dup, NC_000001.11:g.161221687_161221688dup, NC_000001.11:g.161221686_161221688dup, NC_000001.11:g.161221685_161221688dup, NC_000001.11:g.161221684_161221688dup, NC_000001.11:g.161221683_161221688dup, NC_000001.11:g.161221682_161221688dup, NC_000001.11:g.161221681_161221688dup, NC_000001.11:g.161221680_161221688dup, NC_000001.11:g.161221679_161221688dup, NC_000001.11:g.161221674_161221688dup, NC_000001.11:g.161221673_161221688dup, NC_000001.11:g.161221672_161221688dup, NC_000001.11:g.161221671_161221688dup, NC_000001.11:g.161221670_161221688dup, NC_000001.11:g.161221669_161221688dup, NC_000001.11:g.161221666_161221688dup, NC_000001.11:g.161221665_161221688dup, NC_000001.11:g.161221664_161221688dup, NC_000001.11:g.161221663_161221688dup, NC_000001.10:g.161191459_161191478del, NC_000001.10:g.161191461_161191478del, NC_000001.10:g.161191462_161191478del, NC_000001.10:g.161191464_161191478del, NC_000001.10:g.161191465_161191478del, NC_000001.10:g.161191466_161191478del, NC_000001.10:g.161191467_161191478del, NC_000001.10:g.161191468_161191478del, NC_000001.10:g.161191469_161191478del, NC_000001.10:g.161191470_161191478del, NC_000001.10:g.161191471_161191478del, NC_000001.10:g.161191472_161191478del, NC_000001.10:g.161191473_161191478del, NC_000001.10:g.161191474_161191478del, NC_000001.10:g.161191475_161191478del, NC_000001.10:g.161191476_161191478del, NC_000001.10:g.161191477_161191478del, NC_000001.10:g.161191478del, NC_000001.10:g.161191478dup, NC_000001.10:g.161191477_161191478dup, NC_000001.10:g.161191476_161191478dup, NC_000001.10:g.161191475_161191478dup, NC_000001.10:g.161191474_161191478dup, NC_000001.10:g.161191473_161191478dup, NC_000001.10:g.161191472_161191478dup, NC_000001.10:g.161191471_161191478dup, NC_000001.10:g.161191470_161191478dup, NC_000001.10:g.161191469_161191478dup, NC_000001.10:g.161191464_161191478dup, NC_000001.10:g.161191463_161191478dup, NC_000001.10:g.161191462_161191478dup, NC_000001.10:g.161191461_161191478dup, NC_000001.10:g.161191460_161191478dup, NC_000001.10:g.161191459_161191478dup, NC_000001.10:g.161191456_161191478dup, NC_000001.10:g.161191455_161191478dup, NC_000001.10:g.161191454_161191478dup, NC_000001.10:g.161191453_161191478dup, NG_012043.1:g.6949_6968del, NG_012043.1:g.6951_6968del, NG_012043.1:g.6952_6968del, NG_012043.1:g.6954_6968del, NG_012043.1:g.6955_6968del, NG_012043.1:g.6956_6968del, NG_012043.1:g.6957_6968del, NG_012043.1:g.6958_6968del, NG_012043.1:g.6959_6968del, NG_012043.1:g.6960_6968del, NG_012043.1:g.6961_6968del, NG_012043.1:g.6962_6968del, NG_012043.1:g.6963_6968del, NG_012043.1:g.6964_6968del, NG_012043.1:g.6965_6968del, NG_012043.1:g.6966_6968del, NG_012043.1:g.6967_6968del, NG_012043.1:g.6968del, NG_012043.1:g.6968dup, NG_012043.1:g.6967_6968dup, NG_012043.1:g.6966_6968dup, NG_012043.1:g.6965_6968dup, NG_012043.1:g.6964_6968dup, NG_012043.1:g.6963_6968dup, NG_012043.1:g.6962_6968dup, NG_012043.1:g.6961_6968dup, NG_012043.1:g.6960_6968dup, NG_012043.1:g.6959_6968dup, NG_012043.1:g.6954_6968dup, NG_012043.1:g.6953_6968dup, NG_012043.1:g.6952_6968dup, NG_012043.1:g.6951_6968dup, NG_012043.1:g.6950_6968dup, NG_012043.1:g.6949_6968dup, NG_012043.1:g.6946_6968dup, NG_012043.1:g.6945_6968dup, NG_012043.1:g.6944_6968dup, NG_012043.1:g.6943_6968dup

Select item 148911822813.

rs1489118228 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:161221154 (GRCh38)
1:161190944 (GRCh37)
Canonical SPDI:: NC_000001.11:161221153:C:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.161221154C>G, NC_000001.10:g.161190944C>G, NG_029043.1:g.10858C>G, NG_012043.1:g.7475G>C

Select item 148848245914.

rs1488482459 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:161225965 (GRCh38)
1:161195755 (GRCh37)
Canonical SPDI:: NC_000001.11:161225964:A:G
Gene:: TOMM40L (Varview), MIR5187 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000033/4 (GnomAD)
HGVS:: NC_000001.11:g.161225965A>G, NC_000001.10:g.161195755A>G, NG_012043.1:g.2664T>C, NM_032174.5:c.-307A>G, NM_001286373.1:c.-307A>G, NM_001286374.1:c.-307A>G

Select item 148824828915.

rs1488248289 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:161228334 (GRCh38)
1:161198124 (GRCh37)
Canonical SPDI:: NC_000001.11:161228333:G:A
Gene:: TOMM40L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161228334G>A, NC_000001.10:g.161198124G>A, NG_029113.1:g.14877C>T, NG_012043.1:g.295C>T

Select item 148769760816.

rs1487697608 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:161228053 (GRCh38)
1:161197843 (GRCh37)
Canonical SPDI:: NC_000001.11:161228052:T:G
Gene:: TOMM40L (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_000001.11:g.161228053T>G, NC_000001.10:g.161197843T>G, NG_029113.1:g.15158A>C, NG_012043.1:g.576A>C

Select item 148752366517.

rs1487523665 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA [Show Flanks]
Chromosome:: 1:161221319 (GRCh38)
1:161191110 (GRCh37)
Canonical SPDI:: NC_000001.11:161221319:A:ATA
Validated:: by frequency,by alfa
MAF:: ATA=0./0 (ALFA)
HGVS:: NC_000001.11:g.161221320_161221321insTA, NC_000001.10:g.161191110_161191111insTA, NG_012043.1:g.7309_7310insAT

Select item 148610929218.

rs1486109292 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:161226127 (GRCh38)
1:161195917 (GRCh37)
Canonical SPDI:: NC_000001.11:161226126:G:A,NC_000001.11:161226126:G:C
Gene:: TOMM40L (Varview), MIR5187 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.161226127G>A, NC_000001.11:g.161226127G>C, NC_000001.10:g.161195917G>A, NC_000001.10:g.161195917G>C, NG_012043.1:g.2502C>T, NG_012043.1:g.2502C>G, NM_032174.6:c.-145G>A, NM_032174.6:c.-145G>C, NM_032174.5:c.-145G>A, NM_032174.5:c.-145G>C, NM_032174.4:c.-145G>A, NM_032174.4:c.-145G>C, XM_006711572.3:c.-24G>A, XM_006711572.3:c.-24G>C, XM_006711572.2:c.-24G>A, XM_006711572.2:c.-24G>C, XM_006711572.1:c.-24G>A, XM_006711572.1:c.-24G>C, XM_011510057.3:c.-24G>A, XM_011510057.3:c.-24G>C, XM_011510057.2:c.-24G>A, XM_011510057.2:c.-24G>C, XM_011510057.1:c.-24G>A, XM_011510057.1:c.-24G>C, NM_001286373.2:c.-145G>A, NM_001286373.2:c.-145G>C, NM_001286373.1:c.-145G>A, NM_001286373.1:c.-145G>C, NM_001286374.2:c.-145G>A, NM_001286374.2:c.-145G>C, NM_001286374.1:c.-145G>A, NM_001286374.1:c.-145G>C, XM_047431897.1:c.-24G>A, XM_047431897.1:c.-24G>C

Select item 148540497219.

rs1485404972 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:161220507 (GRCh38)
1:161190297 (GRCh37)
Canonical SPDI:: NC_000001.11:161220506:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000022/3 (GnomAD)
G=0.000038/10 (TOPMED)
G=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.161220507A>G, NC_000001.10:g.161190297A>G, NG_029043.1:g.10211A>G, NG_012043.1:g.8122T>C

Select item 148511042920.

rs1485110429 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:161225962 (GRCh38)
1:161195752 (GRCh37)
Canonical SPDI:: NC_000001.11:161225961:A:G
Gene:: TOMM40L (Varview), MIR5187 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/1 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000001.11:g.161225962A>G, NC_000001.10:g.161195752A>G, NG_012043.1:g.2667T>C, NM_032174.5:c.-310A>G, NM_001286373.1:c.-310A>G, NM_001286374.1:c.-310A>G

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