SNP Links for Gene (Select 3700) - SNP

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Select item 14911036191.

rs1491103619 has merged into rs67293153 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:52812980 (GRCh38)
3:52846996 (GRCh37)
Canonical SPDI:: NC_000003.12:52812970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:52812970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:52812970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:52812970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:52812970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:52812970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:52812970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:52812970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:52812970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:52812970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:52812970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:52812970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:52812970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:52812970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:52812970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:52812970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:52812970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:52812970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:52812970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ITIH4 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
TTTTTTTTTTT=0./0 (GENOME_DK)
-=0.0755/378 (1000Genomes)
HGVS:: NC_000003.12:g.52812980_52812990del, NC_000003.12:g.52812981_52812990del, NC_000003.12:g.52812982_52812990del, NC_000003.12:g.52812983_52812990del, NC_000003.12:g.52812984_52812990del, NC_000003.12:g.52812985_52812990del, NC_000003.12:g.52812986_52812990del, NC_000003.12:g.52812987_52812990del, NC_000003.12:g.52812988_52812990del, NC_000003.12:g.52812989_52812990del, NC_000003.12:g.52812990del, NC_000003.12:g.52812990dup, NC_000003.12:g.52812989_52812990dup, NC_000003.12:g.52812988_52812990dup, NC_000003.12:g.52812987_52812990dup, NC_000003.12:g.52812986_52812990dup, NC_000003.12:g.52812985_52812990dup, NC_000003.12:g.52812977_52812990dup, NC_000003.12:g.52812972_52812990dup, NC_000003.11:g.52846996_52847006del, NC_000003.11:g.52846997_52847006del, NC_000003.11:g.52846998_52847006del, NC_000003.11:g.52846999_52847006del, NC_000003.11:g.52847000_52847006del, NC_000003.11:g.52847001_52847006del, NC_000003.11:g.52847002_52847006del, NC_000003.11:g.52847003_52847006del, NC_000003.11:g.52847004_52847006del, NC_000003.11:g.52847005_52847006del, NC_000003.11:g.52847006del, NC_000003.11:g.52847006dup, NC_000003.11:g.52847005_52847006dup, NC_000003.11:g.52847004_52847006dup, NC_000003.11:g.52847003_52847006dup, NC_000003.11:g.52847002_52847006dup, NC_000003.11:g.52847001_52847006dup, NC_000003.11:g.52846993_52847006dup, NC_000003.11:g.52846988_52847006dup, NG_016006.2:g.22721_22731del, NG_016006.2:g.22722_22731del, NG_016006.2:g.22723_22731del, NG_016006.2:g.22724_22731del, NG_016006.2:g.22725_22731del, NG_016006.2:g.22726_22731del, NG_016006.2:g.22727_22731del, NG_016006.2:g.22728_22731del, NG_016006.2:g.22729_22731del, NG_016006.2:g.22730_22731del, NG_016006.2:g.22731del, NG_016006.2:g.22731dup, NG_016006.2:g.22730_22731dup, NG_016006.2:g.22729_22731dup, NG_016006.2:g.22728_22731dup, NG_016006.2:g.22727_22731dup, NG_016006.2:g.22726_22731dup, NG_016006.2:g.22718_22731dup, NG_016006.2:g.22713_22731dup, NM_002218.5:c.*440_*450del, NM_002218.5:c.*441_*450del, NM_002218.5:c.*442_*450del, NM_002218.5:c.*443_*450del, NM_002218.5:c.*444_*450del, NM_002218.5:c.*445_*450del, NM_002218.5:c.*446_*450del, NM_002218.5:c.*447_*450del, NM_002218.5:c.*448_*450del, NM_002218.5:c.*449_*450del, NM_002218.5:c.*450del, NM_002218.5:c.*450dup, NM_002218.5:c.*449_*450dup, NM_002218.5:c.*448_*450dup, NM_002218.5:c.*447_*450dup, NM_002218.5:c.*446_*450dup, NM_002218.5:c.*445_*450dup, NM_002218.5:c.*437_*450dup, NM_002218.5:c.*432_*450dup, NM_002218.4:c.*431_*432insAAAAAAAAAAAAAAAAAAA, NM_002218.4:c.*431_*432insAAAAAAAA, NM_002218.4:c.*431_*432insAAAAAAAAA, NM_002218.4:c.*431_*432insAAAAAAAAAA, NM_002218.4:c.*431_*432insAAAAAAAAAAA, NM_002218.4:c.*431_*432insAAAAAAAAAAAA, NM_002218.4:c.*431_*432insAAAAAAAAAAAAA, NM_002218.4:c.*431_*432insAAAAAAAAAAAAAA, NM_002218.4:c.*431_*432insAAAAAAAAAAAAAAA, NM_002218.4:c.*431_*432insAAAAAAAAAAAAAAAA, NM_002218.4:c.*431_*432insAAAAAAAAAAAAAAAAA, NM_002218.4:c.*431_*432insAAAAAAAAAAAAAAAAAA, NM_002218.4:c.*431_*432insAAAAAAAAAAAAAAAAAAAA, NM_002218.4:c.*431_*432insAAAAAAAAAAAAAAAAAAAAA, NM_002218.4:c.*431_*432insAAAAAAAAAAAAAAAAAAAAAA, NM_002218.4:c.*431_*432insAAAAAAAAAAAAAAAAAAAAAAA, NM_002218.4:c.*431_*432insAAAAAAAAAAAAAAAAAAAAAAAA, NM_002218.4:c.*431_*432insAAAAAAAAAAAAAAAAAAAAAAAAA, NM_002218.4:c.*431_*432insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_002218.4:c.*431_*432insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_001166449.2:c.*440_*450del, NM_001166449.2:c.*441_*450del, NM_001166449.2:c.*442_*450del, NM_001166449.2:c.*443_*450del, NM_001166449.2:c.*444_*450del, NM_001166449.2:c.*445_*450del, NM_001166449.2:c.*446_*450del, NM_001166449.2:c.*447_*450del, NM_001166449.2:c.*448_*450del, NM_001166449.2:c.*449_*450del, NM_001166449.2:c.*450del, NM_001166449.2:c.*450dup, NM_001166449.2:c.*449_*450dup, NM_001166449.2:c.*448_*450dup, NM_001166449.2:c.*447_*450dup, NM_001166449.2:c.*446_*450dup, NM_001166449.2:c.*445_*450dup, NM_001166449.2:c.*437_*450dup, NM_001166449.2:c.*432_*450dup, NM_001166449.1:c.*431_*432insAAAAAAAAAAAAAAAAAAA, NM_001166449.1:c.*431_*432insAAAAAAAA, NM_001166449.1:c.*431_*432insAAAAAAAAA, NM_001166449.1:c.*431_*432insAAAAAAAAAA, NM_001166449.1:c.*431_*432insAAAAAAAAAAA, NM_001166449.1:c.*431_*432insAAAAAAAAAAAA, NM_001166449.1:c.*431_*432insAAAAAAAAAAAAA, NM_001166449.1:c.*431_*432insAAAAAAAAAAAAAA, NM_001166449.1:c.*431_*432insAAAAAAAAAAAAAAA, NM_001166449.1:c.*431_*432insAAAAAAAAAAAAAAAA, NM_001166449.1:c.*431_*432insAAAAAAAAAAAAAAAAA, NM_001166449.1:c.*431_*432insAAAAAAAAAAAAAAAAAA, NM_001166449.1:c.*431_*432insAAAAAAAAAAAAAAAAAAAA, NM_001166449.1:c.*431_*432insAAAAAAAAAAAAAAAAAAAAA, NM_001166449.1:c.*431_*432insAAAAAAAAAAAAAAAAAAAAAA, NM_001166449.1:c.*431_*432insAAAAAAAAAAAAAAAAAAAAAAA, NM_001166449.1:c.*431_*432insAAAAAAAAAAAAAAAAAAAAAAAA, NM_001166449.1:c.*431_*432insAAAAAAAAAAAAAAAAAAAAAAAAA, NM_001166449.1:c.*431_*432insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_001166449.1:c.*431_*432insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14909500952.

rs1490950095 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:52812630 (GRCh38)
3:52846646 (GRCh37)
Canonical SPDI:: NC_000003.12:52812629:C:T
Gene:: ITIH4 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000003.12:g.52812630C>T, NC_000003.11:g.52846646C>T, NG_016006.2:g.23072G>A

Select item 14907948363.

rs1490794836 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:52828126 (GRCh38)
3:52862142 (GRCh37)
Canonical SPDI:: NC_000003.12:52828125:C:T
Gene:: ITIH4 (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.52828126C>T, NC_000003.11:g.52862142C>T, NG_016006.2:g.7576G>A

Select item 14906106424.

rs1490610642 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACTC>- [Show Flanks]
Chromosome:: 3:52814618 (GRCh38)
3:52848634 (GRCh37)
Canonical SPDI:: NC_000003.12:52814614:CTCACTC:CTC
Gene:: ITIH4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTC=0./0 (ALFA)
HGVS:: NC_000003.12:g.52814618_52814621del, NC_000003.11:g.52848634_52848637del, NG_016006.2:g.21084_21087del

Select item 14905613625.

rs1490561362 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCGT>- [Show Flanks]
Chromosome:: 3:52826127 (GRCh38)
3:52860143 (GRCh37)
Canonical SPDI:: NC_000003.12:52826124:GTCCGT:GT
Gene:: ITIH4 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000003.12:g.52826127_52826130del, NC_000003.11:g.52860143_52860146del, NG_016006.2:g.9574_9577del

Select item 14905568586.

rs1490556858 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 3:52815523 (GRCh38)
3:52849539 (GRCh37)
Canonical SPDI:: NC_000003.12:52815522:T:C,NC_000003.12:52815522:T:G
Gene:: ITIH4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000003.12:g.52815523T>C, NC_000003.12:g.52815523T>G, NC_000003.11:g.52849539T>C, NC_000003.11:g.52849539T>G, NG_016006.2:g.20179A>G, NG_016006.2:g.20179A>C

Select item 14905521357.

rs1490552135 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:52830479 (GRCh38)
3:52864495 (GRCh37)
Canonical SPDI:: NC_000003.12:52830478:T:C
Gene:: ITIH4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.52830479T>C, NC_000003.11:g.52864495T>C, NG_016006.2:g.5223A>G

Select item 14905219618.

rs1490521961 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:52813927 (GRCh38)
3:52847943 (GRCh37)
Canonical SPDI:: NC_000003.12:52813926:C:A,NC_000003.12:52813926:C:T
Gene:: ITIH4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000005/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.52813927C>A, NC_000003.12:g.52813927C>T, NC_000003.11:g.52847943C>A, NC_000003.11:g.52847943C>T, NG_016006.2:g.21775G>T, NG_016006.2:g.21775G>A

Select item 14902873779.

rs1490287377 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:52813653 (GRCh38)
3:52847669 (GRCh37)
Canonical SPDI:: NC_000003.12:52813652:T:C
Gene:: ITIH4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.52813653T>C, NC_000003.11:g.52847669T>C, NG_016006.2:g.22049A>G

Select item 149023257010.

rs1490232570 [Homo sapiens]

Variant type:: DEL
Alleles:: GCAC>- [Show Flanks]
Chromosome:: 3:52827734 (GRCh38)
3:52861750 (GRCh37)
Canonical SPDI:: NC_000003.12:52827733:GCAC:
Gene:: ITIH4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000021/3 (GnomAD)
-=0.000026/7 (TOPMED)
HGVS:: NC_000003.12:g.52827734_52827737del, NC_000003.11:g.52861750_52861753del, NG_016006.2:g.7965_7968del

Select item 148985825511.

rs1489858255 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:52826767 (GRCh38)
3:52860783 (GRCh37)
Canonical SPDI:: NC_000003.12:52826766:C:T
Gene:: ITIH4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.52826767C>T, NC_000003.11:g.52860783C>T, NG_016006.2:g.8935G>A

Select item 148963524912.

rs1489635249 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:52814814 (GRCh38)
3:52848830 (GRCh37)
Canonical SPDI:: NC_000003.12:52814813:G:C
Gene:: ITIH4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.52814814G>C, NC_000003.11:g.52848830G>C, NG_016006.2:g.20888C>G

Select item 148921806513.

rs1489218065 has merged into rs745725178 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 3:52815232 (GRCh38)
3:52849248 (GRCh37)
Canonical SPDI:: NC_000003.12:52815231:TTTTTTT:TTTTTT,NC_000003.12:52815231:TTTTTTT:TTTTTTTT
Gene:: ITIH4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000035/1 (TOMMO)
-=0.002342/15 (1000Genomes)
-=0.025/1 (GENOME_DK)
HGVS:: NC_000003.12:g.52815238del, NC_000003.12:g.52815238dup, NC_000003.11:g.52849254del, NC_000003.11:g.52849254dup, NG_016006.2:g.20470del, NG_016006.2:g.20470dup

Select item 148911516314.

rs1489115163 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 3:52813550 (GRCh38)
3:52847566 (GRCh37)
Canonical SPDI:: NC_000003.12:52813547:AAAA:AA
Gene:: ITIH4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0./0 (ALFA)
HGVS:: NC_000003.12:g.52813550_52813551del, NC_000003.11:g.52847566_52847567del, NG_016006.2:g.22153_22154del

Select item 148888036715.

rs1488880367 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:52817353 (GRCh38)
3:52851369 (GRCh37)
Canonical SPDI:: NC_000003.12:52817352:C:A
Gene:: ITIH4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.52817353C>A, NC_000003.11:g.52851369C>A, NG_016006.2:g.18349G>T

Select item 148885424516.

rs1488854245 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:52817042 (GRCh38)
3:52851058 (GRCh37)
Canonical SPDI:: NC_000003.12:52817041:G:T
Gene:: ITIH4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000012/3 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000003.12:g.52817042G>T, NC_000003.11:g.52851058G>T, NG_016006.2:g.18660C>A, NM_002218.5:c.2313C>A, NM_002218.4:c.2313C>A, NM_001166449.2:c.2223C>A, NM_001166449.1:c.2223C>A

Select item 148849029317.

rs1488490293 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:52813233 (GRCh38)
3:52847249 (GRCh37)
Canonical SPDI:: NC_000003.12:52813232:G:A,NC_000003.12:52813232:G:T
Gene:: ITIH4 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.52813233G>A, NC_000003.12:g.52813233G>T, NC_000003.11:g.52847249G>A, NC_000003.11:g.52847249G>T, NG_016006.2:g.22469C>T, NG_016006.2:g.22469C>A, NM_002218.5:c.*188C>T, NM_002218.5:c.*188C>A, NM_002218.4:c.*188C>T, NM_002218.4:c.*188C>A, NM_001166449.2:c.*188C>T, NM_001166449.2:c.*188C>A, NM_001166449.1:c.*188C>T, NM_001166449.1:c.*188C>A

Select item 148762178018.

rs1487621780 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:52825867 (GRCh38)
3:52859883 (GRCh37)
Canonical SPDI:: NC_000003.12:52825866:T:C
Gene:: ITIH4 (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.52825867T>C, NC_000003.11:g.52859883T>C, NG_016006.2:g.9835A>G

Select item 148747900219.

rs1487479002 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:52830569 (GRCh38)
3:52864585 (GRCh37)
Canonical SPDI:: NC_000003.12:52830568:G:T
Gene:: ITIH4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.52830569G>T, NC_000003.11:g.52864585G>T, NG_016006.2:g.5133C>A, NM_002218.5:c.74C>A, NM_002218.4:c.74C>A, NM_001166449.2:c.74C>A, NM_001166449.1:c.74C>A, NP_002209.2:p.Thr25Asn, NP_001159921.1:p.Thr25Asn

Select item 148741191220.

rs1487411912 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:52818364 (GRCh38)
3:52852380 (GRCh37)
Canonical SPDI:: NC_000003.12:52818363:G:C
Gene:: ITIH4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.52818364G>C, NC_000003.11:g.52852380G>C, NG_016006.2:g.17338C>G

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