SNP Links for Protein (Select 594140567) - SNP

Select item 14897272481.

rs1489727248 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:18880291 (GRCh38)
19:18991100 (GRCh37)
Canonical SPDI:: NC_000019.10:18880290:G:A
Gene:: GDF1 (Varview), CERS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000019.10:g.18880291G>A, NC_000019.9:g.18991100G>A, NG_033056.1:g.20854C>T, NM_021267.5:c.735C>T, NM_021267.4:c.735C>T, NM_021267.3:c.735C>T, NM_198207.3:c.735C>T, NM_198207.2:c.735C>T, NM_001290265.2:c.441C>T, NM_001290265.1:c.441C>T, NM_001387440.1:c.735C>T, NM_001387444.1:c.441C>T, NM_001387445.1:c.441C>T, NM_001387441.1:c.690C>T, NM_001387442.1:c.441C>T, NM_001387439.1:c.735C>T, NM_001387443.1:c.441C>T, NG_012070.1:g.20854C>T, NM_001492.6:c.-588C>T, NM_001492.5:c.-588C>T, NM_001492.4:c.-588C>T

Select item 14896969282.

rs1489696928 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:18893508 (GRCh38)
19:19004317 (GRCh37)
Canonical SPDI:: NC_000019.10:18893507:A:C
Gene:: GDF1 (Varview), CERS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.18893508A>C, NC_000019.9:g.19004317A>C, NG_033056.1:g.7637T>G, NM_021267.5:c.317T>G, NM_021267.4:c.317T>G, NM_021267.3:c.317T>G, NM_198207.3:c.317T>G, NM_198207.2:c.317T>G, NM_001290265.2:c.23T>G, NM_001290265.1:c.23T>G, NM_001387440.1:c.317T>G, NM_001387444.1:c.23T>G, NM_001387445.1:c.23T>G, NM_001387441.1:c.317T>G, NM_001387442.1:c.23T>G, NM_001387439.1:c.317T>G, NM_001387443.1:c.23T>G, NG_012070.1:g.7637T>G, NM_001492.6:c.-1006T>G, NM_001492.5:c.-1006T>G, NM_001492.4:c.-1006T>G, NM_001387438.1:c.-586T>G, NP_067090.1:p.Phe106Cys, NP_937850.1:p.Phe106Cys, NP_001277194.1:p.Phe8Cys, NP_001374369.1:p.Phe106Cys, NP_001374373.1:p.Phe8Cys, NP_001374374.1:p.Phe8Cys, NP_001374370.1:p.Phe106Cys, NP_001374371.1:p.Phe8Cys, NP_001374368.1:p.Phe106Cys, NP_001374372.1:p.Phe8Cys

Select item 14869432013.

rs1486943201 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:18879261 (GRCh38)
19:18990070 (GRCh37)
Canonical SPDI:: NC_000019.10:18879260:T:C
Gene:: GDF1 (Varview), CERS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.18879261T>C, NC_000019.9:g.18990070T>C, NG_033056.1:g.21884A>G, NM_021267.5:c.880A>G, NM_021267.4:c.880A>G, NM_021267.3:c.880A>G, NM_198207.3:c.880A>G, NM_198207.2:c.880A>G, NM_001290265.2:c.586A>G, NM_001290265.1:c.586A>G, NM_001387440.1:c.880A>G, NM_001387444.1:c.586A>G, NM_001387445.1:c.586A>G, NM_001387441.1:c.835A>G, NM_001387442.1:c.586A>G, NM_001387439.1:c.880A>G, NM_001387443.1:c.586A>G, NG_012070.1:g.21884A>G, NM_001492.6:c.-443A>G, NM_001492.5:c.-443A>G, NM_001492.4:c.-443A>G, NP_067090.1:p.Met294Val, NP_937850.1:p.Met294Val, NP_001277194.1:p.Met196Val, NP_001374369.1:p.Met294Val, NP_001374373.1:p.Met196Val, NP_001374374.1:p.Met196Val, NP_001374370.1:p.Met279Val, NP_001374371.1:p.Met196Val, NP_001374368.1:p.Met294Val, NP_001374372.1:p.Met196Val

Select item 14838942474.

rs1483894247 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:18880408 (GRCh38)
19:18991217 (GRCh37)
Canonical SPDI:: NC_000019.10:18880407:G:A,NC_000019.10:18880407:G:C
Gene:: GDF1 (Varview), CERS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00009/1 (ALFA)
HGVS:: NC_000019.10:g.18880408G>A, NC_000019.10:g.18880408G>C, NC_000019.9:g.18991217G>A, NC_000019.9:g.18991217G>C, NG_033056.1:g.20737C>T, NG_033056.1:g.20737C>G, NM_021267.5:c.618C>T, NM_021267.5:c.618C>G, NM_021267.4:c.618C>T, NM_021267.4:c.618C>G, NM_021267.3:c.618C>T, NM_021267.3:c.618C>G, NM_198207.3:c.618C>T, NM_198207.3:c.618C>G, NM_198207.2:c.618C>T, NM_198207.2:c.618C>G, NM_001290265.2:c.324C>T, NM_001290265.2:c.324C>G, NM_001290265.1:c.324C>T, NM_001290265.1:c.324C>G, NM_001387440.1:c.618C>T, NM_001387440.1:c.618C>G, NM_001387444.1:c.324C>T, NM_001387444.1:c.324C>G, NM_001387445.1:c.324C>T, NM_001387445.1:c.324C>G, NM_001387442.1:c.324C>T, NM_001387442.1:c.324C>G, NM_001387439.1:c.618C>T, NM_001387439.1:c.618C>G, NM_001387443.1:c.324C>T, NM_001387443.1:c.324C>G, NG_012070.1:g.20737C>T, NG_012070.1:g.20737C>G, NM_001492.6:c.-705C>T, NM_001492.6:c.-705C>G, NM_001492.5:c.-705C>T, NM_001492.5:c.-705C>G, NM_001492.4:c.-705C>T, NM_001492.4:c.-705C>G

Select item 14569271245.

rs1456927124 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:18884173 (GRCh38)
19:18994982 (GRCh37)
Canonical SPDI:: NC_000019.10:18884172:G:A
Gene:: GDF1 (Varview), CERS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.18884173G>A, NC_000019.9:g.18994982G>A, NG_033056.1:g.16972C>T, NM_021267.5:c.504C>T, NM_021267.4:c.504C>T, NM_021267.3:c.504C>T, NM_198207.3:c.504C>T, NM_198207.2:c.504C>T, NM_001290265.2:c.210C>T, NM_001290265.1:c.210C>T, NM_001387440.1:c.504C>T, NM_001387444.1:c.210C>T, NM_001387445.1:c.210C>T, NM_001387441.1:c.504C>T, NM_001387442.1:c.210C>T, NM_001387439.1:c.504C>T, NM_001387443.1:c.210C>T, NG_012070.1:g.16972C>T, NM_001492.6:c.-819C>T, NM_001492.5:c.-819C>T, NM_001492.4:c.-819C>T, NM_001387438.1:c.-399C>T

Select item 14524880156.

rs1452488015 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:18879279 (GRCh38)
19:18990088 (GRCh37)
Canonical SPDI:: NC_000019.10:18879278:G:A
Gene:: GDF1 (Varview), CERS1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.18879279G>A, NC_000019.9:g.18990088G>A, NG_033056.1:g.21866C>T, NM_021267.5:c.862C>T, NM_021267.4:c.862C>T, NM_021267.3:c.862C>T, NM_198207.3:c.862C>T, NM_198207.2:c.862C>T, NM_001290265.2:c.568C>T, NM_001290265.1:c.568C>T, NM_001387440.1:c.862C>T, NM_001387444.1:c.568C>T, NM_001387445.1:c.568C>T, NM_001387441.1:c.817C>T, NM_001387442.1:c.568C>T, NM_001387439.1:c.862C>T, NM_001387443.1:c.568C>T, NG_012070.1:g.21866C>T, NM_001492.6:c.-461C>T, NM_001492.5:c.-461C>T, NM_001492.4:c.-461C>T

Select item 14487860117.

rs1448786011 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:18884160 (GRCh38)
19:18994969 (GRCh37)
Canonical SPDI:: NC_000019.10:18884159:G:A
Gene:: GDF1 (Varview), CERS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.18884160G>A, NC_000019.9:g.18994969G>A, NG_033056.1:g.16985C>T, NM_021267.5:c.517C>T, NM_021267.4:c.517C>T, NM_021267.3:c.517C>T, NM_198207.3:c.517C>T, NM_198207.2:c.517C>T, NM_001290265.2:c.223C>T, NM_001290265.1:c.223C>T, NM_001387440.1:c.517C>T, NM_001387444.1:c.223C>T, NM_001387445.1:c.223C>T, NM_001387441.1:c.517C>T, NM_001387442.1:c.223C>T, NM_001387439.1:c.517C>T, NM_001387443.1:c.223C>T, NG_012070.1:g.16985C>T, NM_001492.6:c.-806C>T, NM_001492.5:c.-806C>T, NM_001492.4:c.-806C>T, NM_001387438.1:c.-386C>T, NP_067090.1:p.Arg173Cys, NP_937850.1:p.Arg173Cys, NP_001277194.1:p.Arg75Cys, NP_001374369.1:p.Arg173Cys, NP_001374373.1:p.Arg75Cys, NP_001374374.1:p.Arg75Cys, NP_001374370.1:p.Arg173Cys, NP_001374371.1:p.Arg75Cys, NP_001374368.1:p.Arg173Cys, NP_001374372.1:p.Arg75Cys

Select item 14451298358.

rs1445129835 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:18879333 (GRCh38)
19:18990142 (GRCh37)
Canonical SPDI:: NC_000019.10:18879332:A:G
Gene:: GDF1 (Varview), CERS1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.18879333A>G, NC_000019.9:g.18990142A>G, NG_033056.1:g.21812T>C, NM_021267.5:c.808T>C, NM_021267.4:c.808T>C, NM_021267.3:c.808T>C, NM_198207.3:c.808T>C, NM_198207.2:c.808T>C, NM_001290265.2:c.514T>C, NM_001290265.1:c.514T>C, NM_001387440.1:c.808T>C, NM_001387444.1:c.514T>C, NM_001387445.1:c.514T>C, NM_001387441.1:c.763T>C, NM_001387442.1:c.514T>C, NM_001387439.1:c.808T>C, NM_001387443.1:c.514T>C, NG_012070.1:g.21812T>C, NM_001492.6:c.-515T>C, NM_001492.5:c.-515T>C, NM_001492.4:c.-515T>C, NP_067090.1:p.Cys270Arg, NP_937850.1:p.Cys270Arg, NP_001277194.1:p.Cys172Arg, NP_001374369.1:p.Cys270Arg, NP_001374373.1:p.Cys172Arg, NP_001374374.1:p.Cys172Arg, NP_001374370.1:p.Cys255Arg, NP_001374371.1:p.Cys172Arg, NP_001374368.1:p.Cys270Arg, NP_001374372.1:p.Cys172Arg

Select item 14439022239.

rs1443902223 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:18884190 (GRCh38)
19:18994999 (GRCh37)
Canonical SPDI:: NC_000019.10:18884189:T:C
Gene:: GDF1 (Varview), CERS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00004/1 (TOMMO)
C=0.00034/1 (KOREAN)
C=0.00055/1 (Korea1K)
HGVS:: NC_000019.10:g.18884190T>C, NC_000019.9:g.18994999T>C, NG_033056.1:g.16955A>G, NM_021267.5:c.487A>G, NM_021267.4:c.487A>G, NM_021267.3:c.487A>G, NM_198207.3:c.487A>G, NM_198207.2:c.487A>G, NM_001290265.2:c.193A>G, NM_001290265.1:c.193A>G, NM_001387440.1:c.487A>G, NM_001387444.1:c.193A>G, NM_001387445.1:c.193A>G, NM_001387441.1:c.487A>G, NM_001387442.1:c.193A>G, NM_001387439.1:c.487A>G, NM_001387443.1:c.193A>G, NG_012070.1:g.16955A>G, NM_001492.6:c.-836A>G, NM_001492.5:c.-836A>G, NM_001492.4:c.-836A>G, NM_001387438.1:c.-416A>G, NP_067090.1:p.Ile163Val, NP_937850.1:p.Ile163Val, NP_001277194.1:p.Ile65Val, NP_001374369.1:p.Ile163Val, NP_001374373.1:p.Ile65Val, NP_001374374.1:p.Ile65Val, NP_001374370.1:p.Ile163Val, NP_001374371.1:p.Ile65Val, NP_001374368.1:p.Ile163Val, NP_001374372.1:p.Ile65Val

Select item 143237642810.

rs1432376428 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:18879292 (GRCh38)
19:18990101 (GRCh37)
Canonical SPDI:: NC_000019.10:18879291:G:C
Gene:: GDF1 (Varview), CERS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.18879292G>C, NC_000019.9:g.18990101G>C, NG_033056.1:g.21853C>G, NM_021267.5:c.849C>G, NM_021267.4:c.849C>G, NM_021267.3:c.849C>G, NM_198207.3:c.849C>G, NM_198207.2:c.849C>G, NM_001290265.2:c.555C>G, NM_001290265.1:c.555C>G, NM_001387440.1:c.849C>G, NM_001387444.1:c.555C>G, NM_001387445.1:c.555C>G, NM_001387441.1:c.804C>G, NM_001387442.1:c.555C>G, NM_001387439.1:c.849C>G, NM_001387443.1:c.555C>G, NG_012070.1:g.21853C>G, NM_001492.6:c.-474C>G, NM_001492.5:c.-474C>G, NM_001492.4:c.-474C>G, NP_067090.1:p.Phe283Leu, NP_937850.1:p.Phe283Leu, NP_001277194.1:p.Phe185Leu, NP_001374369.1:p.Phe283Leu, NP_001374373.1:p.Phe185Leu, NP_001374374.1:p.Phe185Leu, NP_001374370.1:p.Phe268Leu, NP_001374371.1:p.Phe185Leu, NP_001374368.1:p.Phe283Leu, NP_001374372.1:p.Phe185Leu

Select item 142907339911.

rs1429073399 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:18893437 (GRCh38)
19:19004246 (GRCh37)
Canonical SPDI:: NC_000019.10:18893436:C:G
Gene:: GDF1 (Varview), CERS1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.18893437C>G, NC_000019.9:g.19004246C>G, NG_033056.1:g.7708G>C, NM_021267.5:c.388G>C, NM_021267.4:c.388G>C, NM_021267.3:c.388G>C, NM_198207.3:c.388G>C, NM_198207.2:c.388G>C, NM_001290265.2:c.94G>C, NM_001290265.1:c.94G>C, NM_001387440.1:c.388G>C, NM_001387444.1:c.94G>C, NM_001387445.1:c.94G>C, NM_001387441.1:c.388G>C, NM_001387442.1:c.94G>C, NM_001387439.1:c.388G>C, NM_001387443.1:c.94G>C, NG_012070.1:g.7708G>C, NM_001492.6:c.-935G>C, NM_001492.5:c.-935G>C, NM_001492.4:c.-935G>C, NM_001387438.1:c.-515G>C, NP_067090.1:p.Asp130His, NP_937850.1:p.Asp130His, NP_001277194.1:p.Asp32His, NP_001374369.1:p.Asp130His, NP_001374373.1:p.Asp32His, NP_001374374.1:p.Asp32His, NP_001374370.1:p.Asp130His, NP_001374371.1:p.Asp32His, NP_001374368.1:p.Asp130His, NP_001374372.1:p.Asp32His

Select item 142672319612.

rs1426723196 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:18893527 (GRCh38)
19:19004336 (GRCh37)
Canonical SPDI:: NC_000019.10:18893526:G:C
Gene:: GDF1 (Varview), CERS1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.18893527G>C, NC_000019.9:g.19004336G>C, NG_033056.1:g.7618C>G, NM_021267.5:c.298C>G, NM_021267.4:c.298C>G, NM_021267.3:c.298C>G, NM_198207.3:c.298C>G, NM_198207.2:c.298C>G, NM_001290265.2:c.4C>G, NM_001290265.1:c.4C>G, NM_001387440.1:c.298C>G, NM_001387444.1:c.4C>G, NM_001387445.1:c.4C>G, NM_001387441.1:c.298C>G, NM_001387442.1:c.4C>G, NM_001387439.1:c.298C>G, NM_001387443.1:c.4C>G, NG_012070.1:g.7618C>G, NM_001492.6:c.-1025C>G, NM_001492.5:c.-1025C>G, NM_001492.4:c.-1025C>G, NM_001387438.1:c.-605C>G, NP_067090.1:p.Pro100Ala, NP_937850.1:p.Pro100Ala, NP_001277194.1:p.Pro2Ala, NP_001374369.1:p.Pro100Ala, NP_001374373.1:p.Pro2Ala, NP_001374374.1:p.Pro2Ala, NP_001374370.1:p.Pro100Ala, NP_001374371.1:p.Pro2Ala, NP_001374368.1:p.Pro100Ala, NP_001374372.1:p.Pro2Ala

Select item 142671927713.

rs1426719277 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:18884200 (GRCh38)
19:18995009 (GRCh37)
Canonical SPDI:: NC_000019.10:18884199:A:G
Gene:: GDF1 (Varview), CERS1 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.18884200A>G, NC_000019.9:g.18995009A>G, NG_033056.1:g.16945T>C, NM_021267.5:c.477T>C, NM_021267.4:c.477T>C, NM_021267.3:c.477T>C, NM_198207.3:c.477T>C, NM_198207.2:c.477T>C, NM_001290265.2:c.183T>C, NM_001290265.1:c.183T>C, NM_001387440.1:c.477T>C, NM_001387444.1:c.183T>C, NM_001387445.1:c.183T>C, NM_001387441.1:c.477T>C, NM_001387442.1:c.183T>C, NM_001387439.1:c.477T>C, NM_001387443.1:c.183T>C, NG_012070.1:g.16945T>C, NM_001492.6:c.-846T>C, NM_001492.5:c.-846T>C, NM_001492.4:c.-846T>C, NM_001387438.1:c.-426T>C

Select item 142231627814.

rs1422316278 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:18880306 (GRCh38)
19:18991115 (GRCh37)
Canonical SPDI:: NC_000019.10:18880305:T:A
Gene:: GDF1 (Varview), CERS1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.18880306T>A, NC_000019.9:g.18991115T>A, NG_033056.1:g.20839A>T, NM_021267.5:c.720A>T, NM_021267.4:c.720A>T, NM_021267.3:c.720A>T, NM_198207.3:c.720A>T, NM_198207.2:c.720A>T, NM_001290265.2:c.426A>T, NM_001290265.1:c.426A>T, NM_001387440.1:c.720A>T, NM_001387444.1:c.426A>T, NM_001387445.1:c.426A>T, NM_001387441.1:c.675A>T, NM_001387442.1:c.426A>T, NM_001387439.1:c.720A>T, NM_001387443.1:c.426A>T, NG_012070.1:g.20839A>T, NM_001492.6:c.-603A>T, NM_001492.5:c.-603A>T, NM_001492.4:c.-603A>T

Select item 142180533815.

rs1421805338 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:18893522 (GRCh38)
19:19004331 (GRCh37)
Canonical SPDI:: NC_000019.10:18893521:C:T
Gene:: GDF1 (Varview), CERS1 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.18893522C>T, NC_000019.9:g.19004331C>T, NG_033056.1:g.7623G>A, NM_021267.5:c.303G>A, NM_021267.4:c.303G>A, NM_021267.3:c.303G>A, NM_198207.3:c.303G>A, NM_198207.2:c.303G>A, NM_001290265.2:c.9G>A, NM_001290265.1:c.9G>A, NM_001387440.1:c.303G>A, NM_001387444.1:c.9G>A, NM_001387445.1:c.9G>A, NM_001387441.1:c.303G>A, NM_001387442.1:c.9G>A, NM_001387439.1:c.303G>A, NM_001387443.1:c.9G>A, NG_012070.1:g.7623G>A, NM_001492.6:c.-1020G>A, NM_001492.5:c.-1020G>A, NM_001492.4:c.-1020G>A, NM_001387438.1:c.-600G>A

Select item 141071541516.

rs1410715415 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:18893458 (GRCh38)
19:19004267 (GRCh37)
Canonical SPDI:: NC_000019.10:18893457:T:C
Gene:: GDF1 (Varview), CERS1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.18893458T>C, NC_000019.9:g.19004267T>C, NG_033056.1:g.7687A>G, NM_021267.5:c.367A>G, NM_021267.4:c.367A>G, NM_021267.3:c.367A>G, NM_198207.3:c.367A>G, NM_198207.2:c.367A>G, NM_001290265.2:c.73A>G, NM_001290265.1:c.73A>G, NM_001387440.1:c.367A>G, NM_001387444.1:c.73A>G, NM_001387445.1:c.73A>G, NM_001387441.1:c.367A>G, NM_001387442.1:c.73A>G, NM_001387439.1:c.367A>G, NM_001387443.1:c.73A>G, NG_012070.1:g.7687A>G, NM_001492.6:c.-956A>G, NM_001492.5:c.-956A>G, NM_001492.4:c.-956A>G, NM_001387438.1:c.-536A>G, NP_067090.1:p.Thr123Ala, NP_937850.1:p.Thr123Ala, NP_001277194.1:p.Thr25Ala, NP_001374369.1:p.Thr123Ala, NP_001374373.1:p.Thr25Ala, NP_001374374.1:p.Thr25Ala, NP_001374370.1:p.Thr123Ala, NP_001374371.1:p.Thr25Ala, NP_001374368.1:p.Thr123Ala, NP_001374372.1:p.Thr25Ala

Select item 140510350017.

rs1405103500 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:18884235 (GRCh38)
19:18995044 (GRCh37)
Canonical SPDI:: NC_000019.10:18884234:T:A
Gene:: GDF1 (Varview), CERS1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000141/3 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.18884235T>A, NC_000019.9:g.18995044T>A, NG_033056.1:g.16910A>T, NM_021267.5:c.442A>T, NM_021267.4:c.442A>T, NM_021267.3:c.442A>T, NM_198207.3:c.442A>T, NM_198207.2:c.442A>T, NM_001290265.2:c.148A>T, NM_001290265.1:c.148A>T, NM_001387440.1:c.442A>T, NM_001387444.1:c.148A>T, NM_001387445.1:c.148A>T, NM_001387441.1:c.442A>T, NM_001387442.1:c.148A>T, NM_001387439.1:c.442A>T, NM_001387443.1:c.148A>T, NG_012070.1:g.16910A>T, NM_001492.6:c.-881A>T, NM_001492.5:c.-881A>T, NM_001492.4:c.-881A>T, NM_001387438.1:c.-461A>T, NP_067090.1:p.Ile148Phe, NP_937850.1:p.Ile148Phe, NP_001277194.1:p.Ile50Phe, NP_001374369.1:p.Ile148Phe, NP_001374373.1:p.Ile50Phe, NP_001374374.1:p.Ile50Phe, NP_001374370.1:p.Ile148Phe, NP_001374371.1:p.Ile50Phe, NP_001374368.1:p.Ile148Phe, NP_001374372.1:p.Ile50Phe

Select item 140380251818.

rs1403802518 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:18884114 (GRCh38)
19:18994923 (GRCh37)
Canonical SPDI:: NC_000019.10:18884113:A:G
Gene:: GDF1 (Varview), CERS1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.18884114A>G, NC_000019.9:g.18994923A>G, NG_033056.1:g.17031T>C, NM_021267.5:c.563T>C, NM_021267.4:c.563T>C, NM_021267.3:c.563T>C, NM_198207.3:c.563T>C, NM_198207.2:c.563T>C, NM_001290265.2:c.269T>C, NM_001290265.1:c.269T>C, NM_001387440.1:c.563T>C, NM_001387444.1:c.269T>C, NM_001387445.1:c.269T>C, NM_001387441.1:c.563T>C, NM_001387442.1:c.269T>C, NM_001387439.1:c.563T>C, NM_001387443.1:c.269T>C, NG_012070.1:g.17031T>C, NM_001492.6:c.-760T>C, NM_001492.5:c.-760T>C, NM_001492.4:c.-760T>C, NM_001387438.1:c.-340T>C, NP_067090.1:p.Ile188Thr, NP_937850.1:p.Ile188Thr, NP_001277194.1:p.Ile90Thr, NP_001374369.1:p.Ile188Thr, NP_001374373.1:p.Ile90Thr, NP_001374374.1:p.Ile90Thr, NP_001374370.1:p.Ile188Thr, NP_001374371.1:p.Ile90Thr, NP_001374368.1:p.Ile188Thr, NP_001374372.1:p.Ile90Thr

Select item 140362121119.

rs1403621211 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:18884096 (GRCh38)
19:18994905 (GRCh37)
Canonical SPDI:: NC_000019.10:18884095:T:A
Gene:: GDF1 (Varview), CERS1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.18884096T>A, NC_000019.9:g.18994905T>A, NG_033056.1:g.17049A>T, NM_021267.5:c.581A>T, NM_021267.4:c.581A>T, NM_021267.3:c.581A>T, NM_198207.3:c.581A>T, NM_198207.2:c.581A>T, NM_001290265.2:c.287A>T, NM_001290265.1:c.287A>T, NM_001387440.1:c.581A>T, NM_001387444.1:c.287A>T, NM_001387445.1:c.287A>T, NM_001387441.1:c.581A>T, NM_001387442.1:c.287A>T, NM_001387439.1:c.581A>T, NM_001387443.1:c.287A>T, NG_012070.1:g.17049A>T, NM_001492.6:c.-742A>T, NM_001492.5:c.-742A>T, NM_001492.4:c.-742A>T, NM_001387438.1:c.-322A>T, NP_067090.1:p.Tyr194Phe, NP_937850.1:p.Tyr194Phe, NP_001277194.1:p.Tyr96Phe, NP_001374369.1:p.Tyr194Phe, NP_001374373.1:p.Tyr96Phe, NP_001374374.1:p.Tyr96Phe, NP_001374370.1:p.Tyr194Phe, NP_001374371.1:p.Tyr96Phe, NP_001374368.1:p.Tyr194Phe, NP_001374372.1:p.Tyr96Phe

Select item 140203071920.

rs1402030719 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:18879379 (GRCh38)
19:18990188 (GRCh37)
Canonical SPDI:: NC_000019.10:18879378:G:A,NC_000019.10:18879378:G:T
Gene:: GDF1 (Varview), CERS1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00003/8 (TOPMED)
HGVS:: NC_000019.10:g.18879379G>A, NC_000019.10:g.18879379G>T, NC_000019.9:g.18990188G>A, NC_000019.9:g.18990188G>T, NG_033056.1:g.21766C>T, NG_033056.1:g.21766C>A, NM_021267.5:c.762C>T, NM_021267.5:c.762C>A, NM_021267.4:c.762C>T, NM_021267.4:c.762C>A, NM_021267.3:c.762C>T, NM_021267.3:c.762C>A, NM_198207.3:c.762C>T, NM_198207.3:c.762C>A, NM_198207.2:c.762C>T, NM_198207.2:c.762C>A, NM_001290265.2:c.468C>T, NM_001290265.2:c.468C>A, NM_001290265.1:c.468C>T, NM_001290265.1:c.468C>A, NM_001387440.1:c.762C>T, NM_001387440.1:c.762C>A, NM_001387444.1:c.468C>T, NM_001387444.1:c.468C>A, NM_001387445.1:c.468C>T, NM_001387445.1:c.468C>A, NM_001387441.1:c.717C>T, NM_001387441.1:c.717C>A, NM_001387442.1:c.468C>T, NM_001387442.1:c.468C>A, NM_001387439.1:c.762C>T, NM_001387439.1:c.762C>A, NM_001387443.1:c.468C>T, NM_001387443.1:c.468C>A, NG_012070.1:g.21766C>T, NG_012070.1:g.21766C>A, NM_001492.6:c.-561C>T, NM_001492.6:c.-561C>A, NM_001492.5:c.-561C>T, NM_001492.5:c.-561C>A, NM_001492.4:c.-561C>T, NM_001492.4:c.-561C>A, NP_067090.1:p.Phe254Leu, NP_937850.1:p.Phe254Leu, NP_001277194.1:p.Phe156Leu, NP_001374369.1:p.Phe254Leu, NP_001374373.1:p.Phe156Leu, NP_001374374.1:p.Phe156Leu, NP_001374370.1:p.Phe239Leu, NP_001374371.1:p.Phe156Leu, NP_001374368.1:p.Phe254Leu, NP_001374372.1:p.Phe156Leu

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dbSNP

Result Filters

Clinical Significance

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Annotation

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Custom range

Additional filters

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Items: 1 to 20 of 257

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