SNP Links for Gene (Select 115795) - SNP

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Select item 14915774361.

rs1491577436 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTTG [Show Flanks]
Chromosome:: 3:10092710 (GRCh38)
3:10134395 (GRCh37)
Canonical SPDI:: NC_000003.12:10092710::TTTG
Gene:: FANCD2 (Varview), FANCD2OS (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTTG=0.0002/1 (ALFA)
HGVS:: NC_000003.12:g.10092710_10092711insTTTG, NC_000003.11:g.10134394_10134395insTTTG, NG_007311.1:g.71282_71283insTTTG, NG_042053.1:g.20521_20522insCAAA

Select item 14915590682.

rs1491559068 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 3:10087281 (GRCh38)
3:10128965 (GRCh37)
Canonical SPDI:: NC_000003.12:10087280:CT:
Gene:: FANCD2 (Varview), FANCD2OS (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000003.12:g.10087281_10087282del, NC_000003.11:g.10128965_10128966del, NG_007311.1:g.65853_65854del, NG_042053.1:g.25950_25951del

Select item 14913399283.

rs1491339928 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 3:10105772 (GRCh38)
3:10147456 (GRCh37)
Canonical SPDI:: NC_000003.12:10105771:TT:
Gene:: FANCD2OS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00245/37 (TOMMO)
-=0.00363/47 (GnomAD)
HGVS:: NC_000003.12:g.10105772_10105773del, NC_000003.11:g.10147456_10147457del, NG_042053.1:g.7459_7460del

Select item 14912198744.

rs1491219874 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 3:10092710 (GRCh38)
3:10134394 (GRCh37)
Canonical SPDI:: NC_000003.12:10092709:TG:
Gene:: FANCD2 (Varview), FANCD2OS (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.004384/52 (ALFA)
-=0.000549/61 (GnomAD)
HGVS:: NC_000003.12:g.10092710_10092711del, NC_000003.11:g.10134394_10134395del, NG_007311.1:g.71282_71283del, NG_042053.1:g.20521_20522del

Select item 14911373485.

rs1491137348 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 3:10107584 (GRCh38)
3:10149268 (GRCh37)
Canonical SPDI:: NC_000003.12:10107583:GC:
Gene:: FANCD2OS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.000457/64 (GnomAD)
-=0.000468/3 (1000Genomes)
HGVS:: NC_000003.12:g.10107584_10107585del, NC_000003.11:g.10149268_10149269del, NG_042053.1:g.5647_5648del

Select item 14910418806.

rs1491041880 has merged into rs35070534 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
Chromosome:: 3:10092441 (GRCh38)
3:10134125 (GRCh37)
Canonical SPDI:: NC_000003.12:10092431:TTTTTTTTTTT:TTTTTTTTT,NC_000003.12:10092431:TTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:10092431:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:10092431:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:10092431:TTTTTTTTTTT:TTTTTTTTTTTTTT
Gene:: FANCD2 (Varview), FANCD2OS (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0.00019/2 (ALFA)
-=0.22424/1123 (1000Genomes)
HGVS:: NC_000003.12:g.10092441_10092442del, NC_000003.12:g.10092442del, NC_000003.12:g.10092442dup, NC_000003.12:g.10092441_10092442dup, NC_000003.12:g.10092440_10092442dup, NC_000003.11:g.10134125_10134126del, NC_000003.11:g.10134126del, NC_000003.11:g.10134126dup, NC_000003.11:g.10134125_10134126dup, NC_000003.11:g.10134124_10134126dup, NG_007311.1:g.71013_71014del, NG_007311.1:g.71014del, NG_007311.1:g.71014dup, NG_007311.1:g.71013_71014dup, NG_007311.1:g.71012_71014dup, NG_042053.1:g.20799_20800del, NG_042053.1:g.20800del, NG_042053.1:g.20800dup, NG_042053.1:g.20799_20800dup, NG_042053.1:g.20798_20800dup

Select item 14909237527.

rs1490923752 has merged into rs574690780 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATATATATATATATATATATATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATAT [Show Flanks]
Chromosome:: 3:10105784 (GRCh38)
3:10147468 (GRCh37)
Canonical SPDI:: NC_000003.12:10105772:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATAT,NC_000003.12:10105772:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATAT,NC_000003.12:10105772:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATAT,NC_000003.12:10105772:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATAT,NC_000003.12:10105772:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATAT,NC_000003.12:10105772:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATAT,NC_000003.12:10105772:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATAT,NC_000003.12:10105772:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATAT,NC_000003.12:10105772:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATAT,NC_000003.12:10105772:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATAT,NC_000003.12:10105772:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATAT,NC_000003.12:10105772:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATAT,NC_000003.12:10105772:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATAT,NC_000003.12:10105772:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATAT,NC_000003.12:10105772:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATAT,NC_000003.12:10105772:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATAT,NC_000003.12:10105772:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATAT,NC_000003.12:10105772:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATAT,NC_000003.12:10105772:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATAT,NC_000003.12:10105772:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000003.12:10105772:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000003.12:10105772:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000003.12:10105772:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000003.12:10105772:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000003.12:10105772:TATATATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
Gene:: FANCD2OS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATAT=0./0 (ALFA)
HGVS:: NC_000003.12:g.10105774AT[5], NC_000003.12:g.10105774AT[6], NC_000003.12:g.10105774AT[7], NC_000003.12:g.10105774AT[8], NC_000003.12:g.10105774AT[9], NC_000003.12:g.10105774AT[10], NC_000003.12:g.10105774AT[11], NC_000003.12:g.10105774AT[12], NC_000003.12:g.10105774AT[13], NC_000003.12:g.10105774AT[14], NC_000003.12:g.10105774AT[15], NC_000003.12:g.10105774AT[16], NC_000003.12:g.10105774AT[17], NC_000003.12:g.10105774AT[18], NC_000003.12:g.10105774AT[19], NC_000003.12:g.10105774AT[20], NC_000003.12:g.10105774AT[21], NC_000003.12:g.10105774AT[22], NC_000003.12:g.10105774AT[23], NC_000003.12:g.10105774AT[25], NC_000003.12:g.10105774AT[26], NC_000003.12:g.10105774AT[27], NC_000003.12:g.10105774AT[28], NC_000003.12:g.10105774AT[29], NC_000003.12:g.10105774AT[30], NC_000003.11:g.10147458AT[5], NC_000003.11:g.10147458AT[6], NC_000003.11:g.10147458AT[7], NC_000003.11:g.10147458AT[8], NC_000003.11:g.10147458AT[9], NC_000003.11:g.10147458AT[10], NC_000003.11:g.10147458AT[11], NC_000003.11:g.10147458AT[12], NC_000003.11:g.10147458AT[13], NC_000003.11:g.10147458AT[14], NC_000003.11:g.10147458AT[15], NC_000003.11:g.10147458AT[16], NC_000003.11:g.10147458AT[17], NC_000003.11:g.10147458AT[18], NC_000003.11:g.10147458AT[19], NC_000003.11:g.10147458AT[20], NC_000003.11:g.10147458AT[21], NC_000003.11:g.10147458AT[22], NC_000003.11:g.10147458AT[23], NC_000003.11:g.10147458AT[25], NC_000003.11:g.10147458AT[26], NC_000003.11:g.10147458AT[27], NC_000003.11:g.10147458AT[28], NC_000003.11:g.10147458AT[29], NC_000003.11:g.10147458AT[30], NG_042053.1:g.7412TA[5], NG_042053.1:g.7412TA[6], NG_042053.1:g.7412TA[7], NG_042053.1:g.7412TA[8], NG_042053.1:g.7412TA[9], NG_042053.1:g.7412TA[10], NG_042053.1:g.7412TA[11], NG_042053.1:g.7412TA[12], NG_042053.1:g.7412TA[13], NG_042053.1:g.7412TA[14], NG_042053.1:g.7412TA[15], NG_042053.1:g.7412TA[16], NG_042053.1:g.7412TA[17], NG_042053.1:g.7412TA[18], NG_042053.1:g.7412TA[19], NG_042053.1:g.7412TA[20], NG_042053.1:g.7412TA[21], NG_042053.1:g.7412TA[22], NG_042053.1:g.7412TA[23], NG_042053.1:g.7412TA[25], NG_042053.1:g.7412TA[26], NG_042053.1:g.7412TA[27], NG_042053.1:g.7412TA[28], NG_042053.1:g.7412TA[29], NG_042053.1:g.7412TA[30]

Select item 14908814968.

rs1490881496 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:10091401 (GRCh38)
3:10133085 (GRCh37)
Canonical SPDI:: NC_000003.12:10091400:G:A
Gene:: FANCD2 (Varview), FANCD2OS (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000003.12:g.10091401G>A, NC_000003.11:g.10133085G>A, NG_007311.1:g.69973G>A, NG_042053.1:g.21831C>T

Select item 14908520359.

rs1490852035 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:10091230 (GRCh38)
3:10132914 (GRCh37)
Canonical SPDI:: NC_000003.12:10091229:G:A
Gene:: FANCD2 (Varview), FANCD2OS (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000022/3 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000003.12:g.10091230G>A, NC_000003.11:g.10132914G>A, NG_007311.1:g.69802G>A, NG_042053.1:g.22002C>T

Select item 149081193910.

rs1490811939 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:10107850 (GRCh38)
3:10149534 (GRCh37)
Canonical SPDI:: NC_000003.12:10107849:C:A,NC_000003.12:10107849:C:T
Gene:: FANCD2OS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.10107850C>A, NC_000003.12:g.10107850C>T, NC_000003.11:g.10149534C>A, NC_000003.11:g.10149534C>T, NG_042053.1:g.5382G>T, NG_042053.1:g.5382G>A

Select item 149076558611.

rs1490765586 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:10108067 (GRCh38)
3:10149751 (GRCh37)
Canonical SPDI:: NC_000003.12:10108066:C:T
Gene:: FANCD2OS (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.10108067C>T, NC_000003.11:g.10149751C>T, NG_042053.1:g.5165G>A, NM_001164839.2:c.-61G>A, NM_001164839.1:c.-61G>A, NM_173472.2:c.-61G>A, NM_173472.1:c.-61G>A, XR_007095632.1:n.189G>A, XR_007095633.1:n.189G>A, XR_007095635.1:n.189G>A, XR_007095634.1:n.189G>A, XM_047447400.1:c.-131G>A

Select item 149059833012.

rs1490598330 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:10083507 (GRCh38)
3:10125191 (GRCh37)
Canonical SPDI:: NC_000003.12:10083506:G:A
Gene:: FANCD2 (Varview), FANCD2OS (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.10083507G>A, NC_000003.11:g.10125191G>A, NG_007311.1:g.62079G>A, NG_042053.1:g.29725C>T

Select item 149039816213.

rs1490398162 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:10099127 (GRCh38)
3:10140811 (GRCh37)
Canonical SPDI:: NC_000003.12:10099126:G:A
Gene:: FANCD2 (Varview), FANCD2OS (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.10099127G>A, NC_000003.11:g.10140811G>A, NG_007311.1:g.77699G>A, NM_033084.6:c.*177G>A, NM_033084.5:c.*177G>A, NM_033084.4:c.*177G>A, NM_033084.3:c.*177G>A, NM_001374254.1:c.*177G>A, NG_042053.1:g.14105C>T

Select item 149037117914.

rs1490371179 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:10092454 (GRCh38)
3:10134138 (GRCh37)
Canonical SPDI:: NC_000003.12:10092453:C:T
Gene:: FANCD2 (Varview), FANCD2OS (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.0007/3 (ALFA)
T=0.0004/2 (Estonian)
HGVS:: NC_000003.12:g.10092454C>T, NC_000003.11:g.10134138C>T, NG_007311.1:g.71026C>T, NG_042053.1:g.20778G>A

Select item 149035627115.

rs1490356271 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:10090114 (GRCh38)
3:10131798 (GRCh37)
Canonical SPDI:: NC_000003.12:10090113:G:A
Gene:: FANCD2 (Varview), FANCD2OS (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0./0 (GnomAD)
HGVS:: NC_000003.12:g.10090114G>A, NC_000003.11:g.10131798G>A, NG_007311.1:g.68686G>A, NG_042053.1:g.23118C>T

Select item 149026182816.

rs1490261828 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:10108022 (GRCh38)
3:10149706 (GRCh37)
Canonical SPDI:: NC_000003.12:10108021:A:G
Gene:: FANCD2OS (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,5_prime_UTR_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.10108022A>G, NC_000003.11:g.10149706A>G, NG_042053.1:g.5210T>C, NM_001164839.2:c.-16T>C, NM_001164839.1:c.-16T>C, NM_173472.2:c.-16T>C, NM_173472.1:c.-16T>C, XR_007095632.1:n.234T>C, XR_007095633.1:n.234T>C, XR_007095635.1:n.234T>C, XR_007095634.1:n.234T>C, XM_047447400.1:c.-86T>C

Select item 149006289317.

rs1490062893 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCT>- [Show Flanks]
Chromosome:: 3:10090471 (GRCh38)
3:10132155 (GRCh37)
Canonical SPDI:: NC_000003.12:10090469:TTCT:T
Gene:: FANCD2 (Varview), FANCD2OS (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000422/5 (ALFA)
-=0.000143/18 (GnomAD)
HGVS:: NC_000003.12:g.10090471_10090473del, NC_000003.11:g.10132155_10132157del, NG_007311.1:g.69043_69045del, NG_042053.1:g.22760_22762del

Select item 149001839918.

rs1490018399 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:10108984 (GRCh38)
3:10150668 (GRCh37)
Canonical SPDI:: NC_000003.12:10108983:C:T
Gene:: FANCD2OS (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000003.12:g.10108984C>T, NC_000003.11:g.10150668C>T, NG_042053.1:g.4248G>A

Select item 148998447619.

rs1489984476 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 3:10101409 (GRCh38)
3:10143093 (GRCh37)
Canonical SPDI:: NC_000003.12:10101408:GGGG:GGG
Gene:: FANCD2 (Varview), FANCD2OS (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0.001096/13 (ALFA)
-=0.001698/187 (GnomAD)
HGVS:: NC_000003.12:g.10101412del, NC_000003.11:g.10143096del, NG_007311.1:g.79984del, NM_001018115.3:c.*150del, NM_001018115.2:c.*150del, NM_001018115.1:c.*150del, NM_001319984.2:c.*150del, NM_001319984.1:c.*150del, NM_001374253.1:c.*150del, NG_042053.1:g.11823del

Select item 148990793420.

rs1489907934 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:10099569 (GRCh38)
3:10141253 (GRCh37)
Canonical SPDI:: NC_000003.12:10099568:C:G
Gene:: FANCD2 (Varview), FANCD2OS (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.10099569C>G, NC_000003.11:g.10141253C>G, NG_007311.1:g.78141C>G, NM_033084.3:c.*619C>G, NG_042053.1:g.13663G>C, NM_033084.5:c.*619C>G, NM_033084.4:c.*619C>G

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