SNP Links for Gene (Select 2191) - SNP

Links from Gene

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14915318921.

rs1491531892 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTT [Show Flanks]
Chromosome:: 2:162224205 (GRCh38)
2:163080716 (GRCh37)
Canonical SPDI:: NC_000002.12:162224205:TTGTT:TTGTTGTT
Gene:: FAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTGTTGTT=0./0 (ALFA)
TTG=0.000004/1 (TOPMED)
TTG=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.162224208_162224210dup, NC_000002.11:g.163080718_163080720dup, NG_027991.1:g.24328_24330dup

Select item 14915112942.

rs1491511294 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATATA,ATATATA,ATATATATA [Show Flanks]
Chromosome:: 2:162179813 (GRCh38)
2:163036324 (GRCh37)
Canonical SPDI:: NC_000002.12:162179813::A,NC_000002.12:162179813::ATA,NC_000002.12:162179813::ATATA,NC_000002.12:162179813::ATATATA,NC_000002.12:162179813::ATATATATA
Gene:: FAP (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
ATATATATA=0.000004/1 (TOPMED)
A=0.00073/11 (TOMMO)
HGVS:: NC_000002.12:g.162179813_162179814insA, NC_000002.12:g.162179813_162179814insATA, NC_000002.12:g.162179813_162179814insATATA, NC_000002.12:g.162179813_162179814insATATATA, NC_000002.12:g.162179813_162179814insATATATATA, NC_000002.11:g.163036323_163036324insA, NC_000002.11:g.163036323_163036324insATA, NC_000002.11:g.163036323_163036324insATATA, NC_000002.11:g.163036323_163036324insATATATA, NC_000002.11:g.163036323_163036324insATATATATA, NG_027991.1:g.68722_68723insT, NG_027991.1:g.68722_68723insTAT, NG_027991.1:g.68722_68723insTATAT, NG_027991.1:g.68722_68723insTATATAT, NG_027991.1:g.68722_68723insTATATATAT

Select item 14914939233.

rs1491493923 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAAT,CTATCAAT [Show Flanks]
Chromosome:: 2:162179791 (GRCh38)
2:163036302 (GRCh37)
Canonical SPDI:: NC_000002.12:162179791:AT:ATCAAT,NC_000002.12:162179791:AT:ATCTATCAAT
Gene:: FAP (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATCTATCAAT=0./0 (ALFA)
HGVS:: NC_000002.12:g.162179793_162179794insCAAT, NC_000002.12:g.162179793_162179794insCTATCAAT, NC_000002.11:g.163036303_163036304insCAAT, NC_000002.11:g.163036303_163036304insCTATCAAT, NG_027991.1:g.68744_68745insTGAT, NG_027991.1:g.68744_68745insTGATAGAT

Select item 14914750344.

rs1491475034 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 2:162224206 (GRCh38)
2:163080716 (GRCh37)
Canonical SPDI:: NC_000002.12:162224204:TTT:T
Gene:: FAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000026/7 (TOPMED)
HGVS:: NC_000002.12:g.162224206_162224207del, NC_000002.11:g.163080716_163080717del, NG_027991.1:g.24330_24331del

Select item 14913880125.

rs1491388012 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATATATATATT,ATATATATT,ATATATT,ATATATTT,ATATATTTT,ATATT,ATATTT,ATATTTT,ATATTTTTT,ATT,ATTT,ATTTT,ATTTTT,ATTTTTT,ATTTTTTT,ATTTTTTTT [Show Flanks]
Chromosome:: 2:162179812 (GRCh38)
2:163036323 (GRCh37)
Canonical SPDI:: NC_000002.12:162179812:T:TATATATATATT,NC_000002.12:162179812:T:TATATATATT,NC_000002.12:162179812:T:TATATATT,NC_000002.12:162179812:T:TATATATTT,NC_000002.12:162179812:T:TATATATTTT,NC_000002.12:162179812:T:TATATT,NC_000002.12:162179812:T:TATATTT,NC_000002.12:162179812:T:TATATTTT,NC_000002.12:162179812:T:TATATTTTTT,NC_000002.12:162179812:T:TATT,NC_000002.12:162179812:T:TATTT,NC_000002.12:162179812:T:TATTTT,NC_000002.12:162179812:T:TATTTTT,NC_000002.12:162179812:T:TATTTTTT,NC_000002.12:162179812:T:TATTTTTTT,NC_000002.12:162179812:T:TATTTTTTTT
Gene:: FAP (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATT=0./0 (ALFA)
HGVS:: NC_000002.12:g.162179813TA[5]TT[1], NC_000002.12:g.162179813TA[4]TT[1], NC_000002.12:g.162179813TA[3]TT[1], NC_000002.12:g.162179813TA[3]TTT[1], NC_000002.12:g.162179813TA[3]T[4], NC_000002.12:g.162179813TA[2]TT[1], NC_000002.12:g.162179813TA[2]TTT[1], NC_000002.12:g.162179813TA[2]T[4], NC_000002.12:g.162179813TA[2]T[6], NC_000002.12:g.162179813_162179814insATT, NC_000002.12:g.162179813_162179814insATTT, NC_000002.12:g.162179813_162179814insATTTT, NC_000002.12:g.162179813_162179814insATTTTT, NC_000002.12:g.162179813_162179814insATTTTTT, NC_000002.12:g.162179813_162179814insATTTTTTT, NC_000002.12:g.162179813_162179814insATTTTTTTT, NC_000002.11:g.163036323TA[5]TT[1], NC_000002.11:g.163036323TA[4]TT[1], NC_000002.11:g.163036323TA[3]TT[1], NC_000002.11:g.163036323TA[3]TTT[1], NC_000002.11:g.163036323TA[3]T[4], NC_000002.11:g.163036323TA[2]TT[1], NC_000002.11:g.163036323TA[2]TTT[1], NC_000002.11:g.163036323TA[2]T[4], NC_000002.11:g.163036323TA[2]T[6], NC_000002.11:g.163036323_163036324insATT, NC_000002.11:g.163036323_163036324insATTT, NC_000002.11:g.163036323_163036324insATTTT, NC_000002.11:g.163036323_163036324insATTTTT, NC_000002.11:g.163036323_163036324insATTTTTT, NC_000002.11:g.163036323_163036324insATTTTTTT, NC_000002.11:g.163036323_163036324insATTTTTTTT, NG_027991.1:g.68723_68724insATATATATATA, NG_027991.1:g.68723_68724insATATATATA, NG_027991.1:g.68723_68724insATATATA, NG_027991.1:g.68723_68724insAATATATA, NG_027991.1:g.68723A[4]TA[3], NG_027991.1:g.68723_68724insATATA, NG_027991.1:g.68723_68724insAATATA, NG_027991.1:g.68723A[4]TA[2], NG_027991.1:g.68723A[6]TA[2], NG_027991.1:g.68723_68724insATA, NG_027991.1:g.68723_68724insAATA, NG_027991.1:g.68723A[4]TA[1], NG_027991.1:g.68723A[5]TA[1], NG_027991.1:g.68723A[6]TA[1], NG_027991.1:g.68723A[7]TA[1], NG_027991.1:g.68723A[8]TA[1]

Select item 14913601466.

rs1491360146 has merged into rs1206502227 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:162179821 (GRCh38)
2:163036331 (GRCh37)
Canonical SPDI:: NC_000002.12:162179812:TTTTTTTTTTTTTT:TTTTTTTT,NC_000002.12:162179812:TTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:162179812:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:162179812:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:162179812:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:162179812:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:162179812:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:162179812:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:162179812:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:162179812:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:162179812:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:162179812:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:162179812:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:162179812:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:162179812:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:162179812:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:162179812:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:162179812:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: FAP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.162179821_162179826del, NC_000002.12:g.162179822_162179826del, NC_000002.12:g.162179823_162179826del, NC_000002.12:g.162179824_162179826del, NC_000002.12:g.162179825_162179826del, NC_000002.12:g.162179826del, NC_000002.12:g.162179826dup, NC_000002.12:g.162179825_162179826dup, NC_000002.12:g.162179824_162179826dup, NC_000002.12:g.162179823_162179826dup, NC_000002.12:g.162179822_162179826dup, NC_000002.12:g.162179821_162179826dup, NC_000002.12:g.162179820_162179826dup, NC_000002.12:g.162179819_162179826dup, NC_000002.12:g.162179818_162179826dup, NC_000002.12:g.162179817_162179826dup, NC_000002.12:g.162179826_162179827insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.162179826_162179827insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.163036331_163036336del, NC_000002.11:g.163036332_163036336del, NC_000002.11:g.163036333_163036336del, NC_000002.11:g.163036334_163036336del, NC_000002.11:g.163036335_163036336del, NC_000002.11:g.163036336del, NC_000002.11:g.163036336dup, NC_000002.11:g.163036335_163036336dup, NC_000002.11:g.163036334_163036336dup, NC_000002.11:g.163036333_163036336dup, NC_000002.11:g.163036332_163036336dup, NC_000002.11:g.163036331_163036336dup, NC_000002.11:g.163036330_163036336dup, NC_000002.11:g.163036329_163036336dup, NC_000002.11:g.163036328_163036336dup, NC_000002.11:g.163036327_163036336dup, NC_000002.11:g.163036336_163036337insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.163036336_163036337insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027991.1:g.68718_68723del, NG_027991.1:g.68719_68723del, NG_027991.1:g.68720_68723del, NG_027991.1:g.68721_68723del, NG_027991.1:g.68722_68723del, NG_027991.1:g.68723del, NG_027991.1:g.68723dup, NG_027991.1:g.68722_68723dup, NG_027991.1:g.68721_68723dup, NG_027991.1:g.68720_68723dup, NG_027991.1:g.68719_68723dup, NG_027991.1:g.68718_68723dup, NG_027991.1:g.68717_68723dup, NG_027991.1:g.68716_68723dup, NG_027991.1:g.68715_68723dup, NG_027991.1:g.68714_68723dup, NG_027991.1:g.68723_68724insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_027991.1:g.68723_68724insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14913097937.

rs1491309793 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 2:162194332 (GRCh38)
2:163050842 (GRCh37)
Canonical SPDI:: NC_000002.12:162194331:GA:
Gene:: FAP (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000033/4 (GnomAD)
HGVS:: NC_000002.12:g.162194332_162194333del, NC_000002.11:g.163050842_163050843del, NG_027991.1:g.54203_54204del

Select item 14912402218.

rs1491240221 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 2:162179245 (GRCh38)
2:163035755 (GRCh37)
Canonical SPDI:: NC_000002.12:162179244:GT:
Gene:: FAP (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00005/5 (GnomAD)
HGVS:: NC_000002.12:g.162179245_162179246del, NC_000002.11:g.163035755_163035756del, NG_027991.1:g.69290_69291del

Select item 14911348059.

rs1491134805 has merged into rs10708873 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:162179258 (GRCh38)
2:163035768 (GRCh37)
Canonical SPDI:: NC_000002.12:162179245:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:162179245:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:162179245:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:162179245:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:162179245:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:162179245:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:162179245:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:162179245:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:162179245:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:162179245:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: FAP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.2724/1364 (1000Genomes)
HGVS:: NC_000002.12:g.162179258_162179264del, NC_000002.12:g.162179261_162179264del, NC_000002.12:g.162179262_162179264del, NC_000002.12:g.162179263_162179264del, NC_000002.12:g.162179264del, NC_000002.12:g.162179264dup, NC_000002.12:g.162179263_162179264dup, NC_000002.12:g.162179262_162179264dup, NC_000002.12:g.162179261_162179264dup, NC_000002.12:g.162179250_162179264dup, NC_000002.11:g.163035768_163035774del, NC_000002.11:g.163035771_163035774del, NC_000002.11:g.163035772_163035774del, NC_000002.11:g.163035773_163035774del, NC_000002.11:g.163035774del, NC_000002.11:g.163035774dup, NC_000002.11:g.163035773_163035774dup, NC_000002.11:g.163035772_163035774dup, NC_000002.11:g.163035771_163035774dup, NC_000002.11:g.163035760_163035774dup, NG_027991.1:g.69284_69290del, NG_027991.1:g.69287_69290del, NG_027991.1:g.69288_69290del, NG_027991.1:g.69289_69290del, NG_027991.1:g.69290del, NG_027991.1:g.69290dup, NG_027991.1:g.69289_69290dup, NG_027991.1:g.69288_69290dup, NG_027991.1:g.69287_69290dup, NG_027991.1:g.69276_69290dup

Select item 149112799310.

rs1491127993 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGAT [Show Flanks]
Chromosome:: 2:162218560 (GRCh38)
2:163075071 (GRCh37)
Canonical SPDI:: NC_000002.12:162218560:T:TAGAT
Gene:: FAP (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000002.12:g.162218561_162218562insAGAT, NC_000002.11:g.163075071_163075072insAGAT, NG_027991.1:g.29975_29976insTCTA

Select item 149092608611.

rs1490926086 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:162190880 (GRCh38)
2:163047390 (GRCh37)
Canonical SPDI:: NC_000002.12:162190879:A:T
Gene:: FAP (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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_000002.12:g.162190880A>T, NC_000002.11:g.163047390A>T, NG_027991.1:g.57656T>A

Select item 149089060312.

rs1490890603 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:162242836 (GRCh38)
2:163099346 (GRCh37)
Canonical SPDI:: NC_000002.12:162242835:A:G
Gene:: FAP (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.162242836A>G, NC_000002.11:g.163099346A>G, NG_027991.1:g.5700T>C

Select item 149086512113.

rs1490865121 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:162244127 (GRCh38)
2:163100637 (GRCh37)
Canonical SPDI:: NC_000002.12:162244126:A:G
Gene:: FAP (Varview), LOC105373724 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000002.12:g.162244127A>G, NC_000002.11:g.163100637A>G, NG_027991.1:g.4409T>C

Select item 149084820614.

rs1490848206 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:162188860 (GRCh38)
2:163045370 (GRCh37)
Canonical SPDI:: NC_000002.12:162188859:C:A
Gene:: FAP (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.162188860C>A, NC_000002.11:g.163045370C>A, NG_027991.1:g.59676G>T

Select item 149070743315.

rs1490707433 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:162211035 (GRCh38)
2:163067545 (GRCh37)
Canonical SPDI:: NC_000002.12:162211034:G:A,NC_000002.12:162211034:G:T
Gene:: FAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.162211035G>A, NC_000002.12:g.162211035G>T, NC_000002.11:g.163067545G>A, NC_000002.11:g.163067545G>T, NG_027991.1:g.37501C>T, NG_027991.1:g.37501C>A

Select item 149064430216.

rs1490644302 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:162193468 (GRCh38)
2:163049978 (GRCh37)
Canonical SPDI:: NC_000002.12:162193467:C:G
Gene:: FAP (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00003/8 (TOPMED)
G=0.000043/6 (GnomAD)
HGVS:: NC_000002.12:g.162193468C>G, NC_000002.11:g.163049978C>G, NG_027991.1:g.55068G>C, XM_011510797.4:c.*687G>C, XM_011510797.3:c.*687G>C, XM_011510797.2:c.*687G>C, XM_011510797.1:c.*687G>C

Select item 149064390417.

rs1490643904 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:162228399 (GRCh38)
2:163084909 (GRCh37)
Canonical SPDI:: NC_000002.12:162228398:T:C
Gene:: FAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.162228399T>C, NC_000002.11:g.163084909T>C, NG_027991.1:g.20137A>G

Select item 149059924018.

rs1490599240 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:162228567 (GRCh38)
2:163085077 (GRCh37)
Canonical SPDI:: NC_000002.12:162228566:A:G
Gene:: FAP (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000002.12:g.162228567A>G, NC_000002.11:g.163085077A>G, NG_027991.1:g.19969T>C

Select item 149055877819.

rs1490558778 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:162183212 (GRCh38)
2:163039722 (GRCh37)
Canonical SPDI:: NC_000002.12:162183211:C:T
Gene:: FAP (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.162183212C>T, NC_000002.11:g.163039722C>T, NG_027991.1:g.65324G>A

Select item 149038995820.

rs1490389958 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:162188220 (GRCh38)
2:163044730 (GRCh37)
Canonical SPDI:: NC_000002.12:162188219:A:G
Gene:: FAP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.162188220A>G, NC_000002.11:g.163044730A>G, NG_027991.1:g.60316T>C, NM_004460.5:c.1763T>C, NM_004460.4:c.1763T>C, NM_004460.3:c.1763T>C, NM_004460.2:c.1763T>C, NM_001291807.3:c.1688T>C, NM_001291807.2:c.1688T>C, NM_001291807.1:c.1688T>C, XM_011510796.4:c.1733T>C, XM_011510796.3:c.1733T>C, XM_011510796.2:c.1733T>C, XM_011510796.1:c.1733T>C, NP_004451.2:p.Val588Ala, NP_001278736.1:p.Val563Ala, XP_011509098.1:p.Val578Ala

<< First< Prev

Page of 50

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1000

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity